Rare Disease List

Explore rare disease basics, symptom clues, diagnosis paths, and care management information

Found 176 diseases

21-Hydroxylase Deficiency

21-hydroxylase deficiency is the most common form of congenital adrenal hyperplasia, often related to CYP21A2 gene variants, and can affect the balance of cortisol, aldosterone, and androgens.

Metabolic and Endocrine DisordersPrevalence: Classic form occurs in approximately 1 in 12,000–15,000 live births; reported incidence in China is about 1/20,000–1/10,000, though actual identification rates are affected by screening and healthcare access.ICD-10: E25.0China First Rare Disease Catalog item 1

Achondroplasia

Achondroplasia is a skeletal growth disorder usually caused by an activating FGFR3 variant, leading to short-limbed short stature and a need for lifelong monitoring of breathing, spine, neurologic, he...

Skeletal and Connective Tissue DisordersPrevalence: Included in China's second rare disease catalog; international estimates are commonly about 1 in 15,000-40,000 newborns.China Second Rare Disease Catalog item 1

Acquired hemophilia

Acquired hemophilia is a rare acquired bleeding disorder, most often caused by autoantibodies against factor VIII, that can cause sudden serious bleeding in people with no previous bleeding history.

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; published estimates are often about 0.2-1.5 cases per million people per year, with higher risk in older adults and around pregnancy/postpartum.China Second Rare Disease Catalog item 2

Acromegaly

Acromegaly is a chronic endocrine disorder caused by long-term excess growth hormone and IGF-1, usually from a pituitary adenoma, leading to gradual changes in hands, feet, facial features, soft tissu...

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; NIDDK notes an estimated 3-14 diagnosed cases per 100,000 people.China Second Rare Disease Catalog item 3

Adult-onset Still disease

Adult-onset Still disease is a rare autoinflammatory condition often suggested by recurrent high fevers, joint pain or arthritis, a fever-linked salmon-colored rash, and markedly elevated ferritin.

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; estimates vary by study, and the condition is considered rare.China Second Rare Disease Catalog item 4

Alagille syndrome

Alagille syndrome is a multisystem genetic condition, often related to JAG1 or NOTCH2 variants, that can affect bile ducts, liver, heart, blood vessels, eyes, spine, kidneys, and facial features.

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 70,000 newborns, likely underestimated for mild cases.China Second Rare Disease Catalog item 5

Albinism

Albinism is a group of genetic disorders related to abnormal melanin synthesis or distribution, commonly affecting skin, hair, and eye pigmentation, and may be accompanied by vision development issues...

Dermatologic DisordersPrevalence: The prevalence of oculocutaneous albinism varies across populations, with common estimates of approximately 1 in 12,000–20,000; ocular albinism is relatively rarer.China First Rare Disease Catalog item 2

Alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency is an inherited SERPINA1-related condition that can increase the risk of early COPD/emphysema and can also cause liver disease in infants, children, or adults.

Respiratory DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 1,500-3,500 people of European ancestry, and it is less common in people of Asian descent.China Second Rare Disease Catalog item 6

Alport Syndrome

Alport syndrome is a hereditary kidney disease related to type IV collagen gene variants, often presenting with persistent hematuria as a clue and possibly accompanied by hearing and eye problems.

Renal and Urologic DisordersPrevalence: It is a rare hereditary kidney disease; true prevalence is affected by region, screening, and genetic testing availability.China First Rare Disease Catalog item 3

Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis is a progressive neurological disease affecting motor neurons, which can gradually cause muscle weakness, atrophy, and impaired swallowing and breathing.

Neurological DisordersPrevalence: Estimated at approximately 2–5 per 100,000 people worldwide, though prevalence varies by region, age structure, and reporting methods.ICD-10: G12.2China First Rare Disease Catalog item 4

ANCA-associated vasculitis

ANCA-associated vasculitis is a group of rare autoimmune small-vessel vasculitides, including GPA, MPA, and EGPA, that can affect the sinuses, lungs, kidneys, skin, nerves, and other organs.

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; the overall group is rare, with frequency varying by subtype and population.China Second Rare Disease Catalog item 7

Angelman Syndrome

Angelman syndrome is a genetic neurodevelopmental disorder that mainly affects neural development, commonly presenting with developmental delay, limited language ability, motor coordination difficulti...

Genetic and Developmental DisordersPrevalence: Estimated to occur in approximately 1 in 12,000–20,000 newborns, with variations across different sources and regions.China First Rare Disease Catalog item 5

Arginase Deficiency

Arginase deficiency is a urea cycle-related inherited metabolic disorder, often presenting in childhood with gradually developing spasticity, growth stagnation or regression, seizures, and elevated ar...

Metabolic and Endocrine DisordersPrevalence: This is an extremely rare condition with an estimated low prevalence, influenced by newborn screening coverage and diagnostic accessibility.China First Rare Disease Catalog item 6

Asphyxiating Thoracic Dystrophy / Jeune Syndrome

Jeune Syndrome is a genetic skeletal ciliopathy, often presenting with a narrow chest, short ribs, short limbs, and respiratory problems in infancy, with possible involvement of kidneys, liver, or ret...

Skeletal and Connective Tissue DisordersPrevalence: Estimated approximately 1 in 100,000-130,000 people, a rare genetic skeletal developmental abnormality.China First Rare Disease Catalog item 7

Atypical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome (aHUS) is a group of rare diseases characterized by microvascular thrombosis, hemolytic anemia, low platelets, and kidney injury, often related to abnormal complemen...

Renal and Urologic DisordersPrevalence: This is a rare disease. MedlinePlus estimates the annual incidence in the United States is about 1 in 500,000 people.China First Rare Disease Catalog item 8

Autoimmune Encephalitis

Autoimmune encephalitis is a group of brain inflammations caused when the immune system attacks brain tissue or structures related to nerve cells, which may cause changes in behavior and mental state,...

Neurological DisordersPrevalence: A relatively uncommon but increasingly recognized neuroimmune disease; the exact prevalence varies depending on antibody testing and diagnostic capabilities.China First Rare Disease Catalog item 9

Autoimmune Hypophysitis

Autoimmune hypophysitis is a rare condition where immune inflammation affects the pituitary gland, which may cause headache, vision changes, diabetes insipidus, or multiple hormone deficiencies.

Metabolic and Endocrine DisordersPrevalence: Overall very rare, with widely varying estimates in published research; some types are more common in pregnant or postpartum women, and can also occur in other populations or in contexts related to immunotherapy.China First Rare Disease Catalog item 10

Autoimmune Insulin Receptopathy (Type B Insulin Resistance)

Autoimmune insulin receptopathy is an extremely rare autoimmune disorder caused by autoantibodies against the insulin receptor. It can lead to severe insulin resistance, high blood sugar, and may also...

Metabolic and Endocrine DisordersPrevalence: Extremely rare; the exact prevalence is unknown. Published literature mostly consists of case reports and case series. It is often associated with a background of autoimmune diseases such as systemic lupus erythematosus.China First Rare Disease Catalog item 11

Bardet-Biedl syndrome

Bardet-Biedl syndrome is a rare inherited ciliopathy that can affect the retina, weight, kidneys, hands and feet, pubertal or reproductive development, learning, and several other body systems.

Genetic and Developmental DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 140,000-160,000 newborns in most of North America and Europe, with higher rates in some populations.China Second Rare Disease Catalog item 8

Behçet's disease

Behçet's disease is a recurrent systemic vasculitis often suggested by mouth ulcers, genital ulcers, skin lesions, and eye inflammation, and it can also affect joints, the gut, nervous system, and lar...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; it is more common in parts of the Mediterranean, Middle East, and Asia, and MedlinePlus Genetics notes it is generally fewer than 1 in 100,000 people in the United States.China Second Rare Disease Catalog item 9

Beta-Ketothiolase Deficiency

Beta-ketothiolase deficiency is a rare genetic metabolic disorder that affects isoleucine and ketone body metabolism. Infections, fasting, or stress may trigger ketoacidosis.

Metabolic and Endocrine DisordersPrevalence: Very rare, with few reported cases in published medical literature; newborn screening coverage and diagnostic capacity vary by region, affecting detection rates.China First Rare Disease Catalog item 12

Biotinidase Deficiency

Biotinidase Deficiency is a genetic metabolic disorder that can be detected through newborn screening. Timely biotin supplementation can usually prevent many neurological, skin, and metabolic problems...

Metabolic and Endocrine DisordersPrevalence: It is a rare disease. Screening data varies widely across regions. Many countries and regions have already included it in newborn or genetic metabolic screening programs.China First Rare Disease Catalog item 13

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome is a rare venous malformation syndrome that causes soft blue-purple skin lesions and gastrointestinal lesions that can lead to chronic bleeding and iron-deficiency anem...

Dermatologic DisordersPrevalence: Included in China's second rare disease catalog; it is very rare, with much of the literature based on case reports and small series.China Second Rare Disease Catalog item 10

Cardiac Ion Channelopathies

Cardiac ion channelopathies are a group of inherited or acquired arrhythmia disorders affecting the heart's electrical activity, which may cause syncope, arrhythmias, or sudden death risk even when ca...

Cardiovascular DisordersPrevalence: Varies significantly across subtypes. Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia each have distinct population distributions and diagnostic criteria.China First Rare Disease Catalog item 14

Primary Carnitine Deficiency

Primary Carnitine Deficiency is an inherited metabolic disorder linked to the SLC22A5 gene that can affect the body's ability to use fat for energy, potentially involving low blood sugar, liver, heart...

Metabolic and Endocrine DisordersPrevalence: This is a rare condition. Newborn screening detection rates vary widely by region. Screening results can also be influenced by the mother's carnitine status and other factors, so follow-up testing is often needed to confirm.China First Rare Disease Catalog item 15

Castleman Disease

Castleman disease is a group of rare lymph node overgrowth disorders that may appear as a single enlarged lymph node area or involve multiple lymph node areas along with fever, fatigue, anemia, or org...

Hematologic DisordersPrevalence: Generally a rare disease overall. Different studies use varying definitions for unicentric, multicentric, and idiopathic multicentric types. Personal risk assessment requires combining pathology and subtype classification.China First Rare Disease Catalog item 16

CDKL5-deficiency disorder

CDKL5-deficiency disorder is a rare X-linked dominant neurodevelopmental condition in which seizures often begin in early infancy and are followed by significant developmental delay.

Neurological DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates an incidence of about 1 in 40,000 to 60,000 newborns, with about 90% of diagnosed people being girls.China Second Rare Disease Catalog item 11

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a group of inherited peripheral nerve disorders that often present with gradual weakness in the feet and lower legs, foot drop, high arches, reduced sensation, or freque...

Neurological DisordersPrevalence: CMT is considered one of the most common inherited peripheral nerve disorders, though statistics vary widely across countries and subtypes.China First Rare Disease Catalog item 17

Choroideremia

Choroideremia is a rare X-linked inherited eye disease caused by CHM gene variants, usually starting with night blindness and gradually narrowing the visual field before central vision is affected lat...

Ophthalmologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates a prevalence of about 1 in 50,000 to 100,000 people, and it may be underdiagnosed because it resembles other retinal disorders.China Second Rare Disease Catalog item 12

Chronic inflammatory demyelinating polyneuropathy

Chronic inflammatory demyelinating polyneuropathy is an immune-mediated peripheral nerve disorder that often causes weakness, numbness, imbalance, and reduced reflexes that progress or relapse over mo...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; estimates vary, and Cleveland Clinic cites about 0.8 to 8.9 new U.S. cases per 100,000 people each year.China Second Rare Disease Catalog item 13

Citrullinemia

Citrullinemia is a group of inherited metabolic disorders that affect the urea cycle or related transport processes, which may cause elevated blood ammonia levels and lead to acute neurological sympto...

Metabolic and Endocrine DisordersPrevalence: Type I and Type II have different regional distributions. Type I belongs to urea cycle disorders, while Type II is associated with citrin deficiency and has been reported more frequently in East Asian populations.China First Rare Disease Catalog item 18

Clear cell sarcoma of kidney

Clear cell sarcoma of kidney is a rare malignant kidney tumor of childhood, most often seen before age 3, that requires pathology confirmation and treatment by a pediatric oncology team.

Rare TumorsPrevalence: Included in China's second rare disease catalog; NCI PDQ states that it accounts for about 5% of primary renal malignancies in children and about 20 new U.S. cases per year, most often before age 3.China Second Rare Disease Catalog item 14

Cold agglutinin disease

Cold agglutinin disease is a rare autoimmune hemolytic anemia in which cold-triggered antibodies can lead to red blood cell destruction, anemia, jaundice, dark urine, and cold-induced color changes in...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall, more often reported in adults and older adults, and estimates vary by whether primary and secondary cases are counted together.China Second Rare Disease Catalog item 15

Congenital Adrenal Hypoplasia

Congenital adrenal hypoplasia is an inherited adrenal insufficiency disorder that can present in newborns or children with hypoglycemia, vomiting, dehydration, low blood pressure, skin darkening, or s...

Metabolic and Endocrine DisordersPrevalence: Overall rare. The X-linked NR0B1-related type mainly affects males, though prevalence varies due to family variants and carrier females.China First Rare Disease Catalog item 19

Congenital biliary atresia

Congenital biliary atresia is a serious infant liver and bile duct disease in which bile cannot drain normally, leading to persistent jaundice, pale stools, dark urine, and progressive liver injury.

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; Mayo Clinic cites about 1 in 10,000 to 20,000 live births, with variation by region and screening practice.China Second Rare Disease Catalog item 16

Congenital factor VII deficiency

Congenital factor VII deficiency is a rare inherited bleeding disorder caused by F7 gene variants, ranging from no symptoms to nosebleeds, heavy menstrual bleeding, surgical bleeding, or rarely life-t...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 300,000 to 500,000 people and describes it as one of the more common rare clotting factor deficiencies.China Second Rare Disease Catalog item 17

Congenital Hyperinsulinemic Hypoglycemia

Congenital hyperinsulinemic hypoglycemia is a group of inherited low blood sugar disorders where abnormal insulin regulation causes repeated low blood sugar in infants or children, which can seriously...

Metabolic and Endocrine DisordersPrevalence: Generally rare, severity ranges from short-term neonatal low blood sugar to persistent, treatment-resistant hypoglycemia.China First Rare Disease Catalog item 20

Congenital Myasthenic Syndrome

Congenital Myasthenic Syndrome is a group of inherited neuromuscular junction disorders, often presenting with fluctuating muscle weakness and fatigue starting from infancy, ptosis, and swallowing or ...

Neurological DisordersPrevalence: Generally rare, with multiple related genes and subtypes; different subtypes vary significantly in age of onset, severity, and treatment response.China First Rare Disease Catalog item 21

Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)

Congenital myotonia is an inherited skeletal muscle ion channel disorder that often appears in childhood with muscle stiffness, difficulty initiating movement, and a "warm-up" phenomenon where symptom...

Neurological DisordersPrevalence: Generally rare worldwide. MedlinePlus estimates about 1 in 100,000 people are affected, with higher rates reported in some northern European regions.China First Rare Disease Catalog item 22

Congenital Scoliosis

Congenital scoliosis is a structural spinal curve caused by abnormal vertebral formation or segmentation during embryonic development, which may gradually progress as a child grows.

Skeletal and Connective Tissue DisordersPrevalence: Generally rare, with wide variation in severity; some children are identified at birth or during checkups, while others are recognized due to trunk asymmetry, screening for associated abnormalities, or imaging studies.China First Rare Disease Catalog item 23

Coronary Artery Ectasia

Coronary artery ectasia is abnormal localized or diffuse dilation of the coronary arteries, which may be related to atherosclerosis, Kawasaki disease, vasculitis, or connective tissue disease.

Cardiovascular DisordersPrevalence: It is not uncommon to be found incidentally during coronary angiography or coronary CTA, but as a disease in China's rare disease directory, evaluation needs to consider the cause, extent, and clinical risk.China First Rare Disease Catalog item 24

Cryopyrin-associated periodic syndrome/NLRP3-associated systemic autoinflammatory disease

CAPS/NLRP3-associated systemic autoinflammatory disease is a rare NLRP3-related condition that often begins in infancy or childhood with recurrent fever, hive-like rash, joint pain, and inflammation a...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates CAPS collectively at about 2 to 5 per million people, likely underdiagnosed.China Second Rare Disease Catalog item 18

Cutaneous neuroendocrine carcinoma (Merkel cell carcinoma)

Cutaneous neuroendocrine carcinoma, also called Merkel cell carcinoma, is a rare but aggressive skin cancer that often appears as a fast-growing painless lump on sun-exposed skin and needs biopsy, sta...

Rare TumorsPrevalence: Included in China's second rare disease catalog; NCI describes it as a very rare skin cancer, with sun exposure and weakened immunity increasing risk.China Second Rare Disease Catalog item 19

Cutaneous T-cell lymphomas

Cutaneous T-cell lymphomas are non-Hodgkin lymphomas that mainly involve the skin, most often mycosis fungoides or Sézary syndrome, and may present for years as persistent itchy patches, plaques, or t...

Rare TumorsPrevalence: Included in China's second rare disease catalog; they are rare overall, and estimates vary by subtype, stage, and registry definition.China Second Rare Disease Catalog item 20

Cystinosis

Cystinosis is an inherited CTNS-related lysosomal storage disorder in which cystine builds up inside cells, mainly damaging the kidneys and eyes but also affecting the thyroid, muscles, pancreas, and ...

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 100,000 to 200,000 newborns worldwide, with regional variation.China Second Rare Disease Catalog item 21

Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans is a rare, usually slow-growing but locally aggressive skin soft tissue tumor that can extend into surrounding tissue and recur if not fully removed.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is rare overall and makes up a very small share of skin tumors, with estimates varying by registry.China Second Rare Disease Catalog item 22

Diamond-Blackfan Anemia

Diamond-Blackfan anemia is an inherited condition where the bone marrow cannot make enough red blood cells. It usually appears in infancy and may be accompanied by growth delay, birth defects, and inc...

Hematologic DisordersPrevalence: MedlinePlus describes it affecting about 5 to 7 per million newborns, and GeneReviews also lists it as a rare inherited disorder of red blood cell production.China First Rare Disease Catalog item 25

Eosinophilic gastroenteritis

Eosinophilic gastroenteritis is a rare chronic gastrointestinal inflammatory disorder in which excess eosinophils infiltrate the stomach, small intestine, colon, or multiple sites, causing recurrent a...

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall and can affect children or adults, with true frequency affected by diagnostic criteria and biopsy practice.China Second Rare Disease Catalog item 23

Epithelioid sarcoma

Epithelioid sarcoma is a rare aggressive soft tissue sarcoma, often affecting teenagers and young adults, that may begin as a painless nodule or non-healing sore on the hand, forearm, foot, knee, or l...

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is a rare soft tissue sarcoma, most often seen in adolescents and young to middle-aged adults, with incidence varying by registry.China Second Rare Disease Catalog item 24

Erdheim-Chester Disease

Erdheim-Chester Disease (ECD) is an extremely rare histiocytic neoplasm/histiocytosis that can affect long bones, perirenal tissue, cardiovascular system, lungs, orbits, brain, pituitary gland, and ot...

Hematologic DisordersPrevalence: Global case numbers are very few, primarily affecting adults. The actual number of affected individuals may be underestimated due to misdiagnosis and missed diagnoses.China First Rare Disease Catalog item 26

Fabry Disease

Fabry Disease is an X-linked lysosomal storage disorder that can affect the nervous system, skin, kidneys, heart, cerebral blood vessels, eyes, and gastrointestinal tract, often leading to delayed dia...

Metabolic and Endocrine DisordersPrevalence: The classic type is rare, while later-onset forms may be more common but are often missed; detection rates vary greatly depending on the population screened.China First Rare Disease Catalog item 27

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is an inherited muscle disorder that mainly causes progressive weakness of the face, shoulder blades, and upper arms, and can also affect the trunk, legs, hearin...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 20,000 people, with about 95% of cases being FSHD1.China Second Rare Disease Catalog item 25

Familial adenomatous polyposis

Familial adenomatous polyposis is an APC-related inherited colorectal cancer predisposition syndrome in which many colon adenomas often begin in adolescence and require lifelong cancer-prevention care...

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics describes an incidence of about 1 in 8,500 people and about 0.5% of all colorectal cancer.China Second Rare Disease Catalog item 27

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis is an inherited immune-regulation disorder in which overactive immune cells can quickly cause prolonged fever, cytopenias, enlarged liver or spleen, and org...

Multisystem DisordersPrevalence: Included in China's second rare disease catalog; it is very rare overall and often presents in infancy or childhood, although later presentation can occur.China Second Rare Disease Catalog item 26

Familial Mediterranean Fever

Familial Mediterranean Fever is a hereditary autoinflammatory disease marked by recurrent short fevers, often with abdominal pain, chest pain, joint pain, rash, or risk of amyloidosis.

Immunologic and Rheumatologic DisordersPrevalence: More common in Mediterranean and related populations, including some Jewish, Armenian, Arab, Turkish, and North African groups; can also occur in other populations.China First Rare Disease Catalog item 28

Fanconi Anemia

Fanconi anemia is an inherited DNA repair defect that can cause congenital abnormalities, bone marrow failure, and increased risk of leukemia and solid tumors.

Hematologic DisordersPrevalence: Generally rare, with varying carrier rates and incidence in different populations. Some patients are born with structural abnormalities, while others are first identified through cytopenias or cancer risk.China First Rare Disease Catalog item 29

Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva is a rare ACVR1-related connective tissue disorder in which soft tissues gradually form extra bone after painful flare-ups, limiting movement over time.

Skeletal and Connective Tissue DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics describes an estimated frequency of about 1 in 1 million people worldwide, with several hundred reported cases.China Second Rare Disease Catalog item 28

Fragile X syndrome

Fragile X syndrome is an FMR1 CGG-repeat expansion disorder that can cause speech and cognitive delay, learning difficulties, attention and behavioral challenges, and autism-spectrum features.

Neurological DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics describes a frequency of about 1 in 4,000 males and 1 in 8,000 females.China Second Rare Disease Catalog item 29

Galactosemia

Galactosemia is a group of galactose metabolism disorders; the classic type can quickly cause feeding difficulties, jaundice, liver damage, infection, and bleeding risk in newborns after lactose intak...

Metabolic and Endocrine DisordersPrevalence: MedlinePlus describes the classic type as affecting approximately 1 in 30,000 to 60,000 newborns, with other types being rarer.China First Rare Disease Catalog item 30

Gangliosidosis

Gangliosidosis refers to a group of autosomal recessive lysosomal storage disorders in which enzyme defects allow GM1 or GM2 gangliosides to build up, causing developmental regression, movement proble...

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates GM1 gangliosidosis at about 1 in 100,000 to 200,000 newborns, while GM2 frequencies vary by population.China Second Rare Disease Catalog item 30

Gastroenteropancreatic neuroendocrine neoplasm

Gastroenteropancreatic neuroendocrine neoplasms are rare tumors from neuroendocrine cells in the digestive tract or pancreas; some grow slowly, while others secrete hormones that cause diarrhea, flush...

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is uncommon overall, and frequency estimates vary by site, grade, and registry method.China Second Rare Disease Catalog item 31

Gastrointestinal stromal tumor

Gastrointestinal stromal tumor is a rare tumor of the GI tract wall, often driven by KIT or PDGFRA variants, with treatment decisions guided by pathology, mutation type, size, and location.

Rare TumorsPrevalence: Included in China's second rare disease catalog; NCI PDQ describes GISTs as less than 1% of all GI tumors, though very small indolent tumors may be undercounted.China Second Rare Disease Catalog item 32

Gaucher’s Disease

Gaucher disease is a lysosomal storage disorder that can cause enlarged liver and spleen, anemia, low platelets, bone pain or bone crises, and some types also affect the nervous system.

Metabolic and Endocrine DisordersPrevalence: Generally rare; type 1 is more common in the Ashkenazi Jewish population. Age of onset and severity vary widely across types.China First Rare Disease Catalog item 31

Generalized Myasthenia Gravis

Generalized Myasthenia Gravis is an autoimmune disease affecting the connection between nerves and muscles, causing fluctuating weakness in muscles of the eyes, face, swallowing, speech, limbs, or bre...

Neurological DisordersPrevalence: A rare neurological immune disease that can occur at any age. Common onset groups include young women and older men.China First Rare Disease Catalog item 32

Generalized pustular psoriasis

Generalized pustular psoriasis is a rare but potentially severe systemic inflammatory skin disease that can cause sudden widespread painful red skin, sterile pustules, fever, dehydration, and organ-co...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall, and flare frequency and severity vary widely.China Second Rare Disease Catalog item 33

Genetic hypoparathyroidism

Genetic hypoparathyroidism is a group of inherited low-calcium disorders caused by abnormal parathyroid development, PTH secretion, or calcium-sensing pathways, leading to hypocalcemia, hyperphosphate...

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall, with wide variation by genetic type and age at diagnosis.China Second Rare Disease Catalog item 34

Giant cell arteritis

Giant cell arteritis is a medium- and large-vessel vasculitis mainly affecting people over 50, often causing new headache, scalp tenderness, jaw pain with chewing, and vision symptoms that can become ...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; it mainly affects adults over age 50, with frequency varying by ancestry and region.China Second Rare Disease Catalog item 35

Giant cell tumor of bone

Giant cell tumor of bone is a rare primary bone tumor that is usually not cancer in the usual sense, but it can grow aggressively where it starts, damage bone, cause pain and swelling, and recur after...

Rare TumorsPrevalence: Included in China's second rare disease catalog; GARD lists it as a rare disease that usually begins in adulthood, with frequency varying by registry and diagnostic definition.China Second Rare Disease Catalog item 36

Gitelman Syndrome

Gitelman Syndrome is an inherited salt-wasting kidney tubule disorder, often presenting with low potassium, low magnesium, metabolic alkalosis, low urinary calcium, and fatigue or muscle cramps.

Metabolic and Endocrine DisordersPrevalence: MedlinePlus Genetics estimates about 1 in 40,000 people worldwide; symptoms vary widely, and many are diagnosed in adolescence or adulthood due to low potassium.China First Rare Disease Catalog item 33

Glanzmann thrombasthenia

Glanzmann thrombasthenia is an autosomal recessive platelet function disorder in which platelet counts may be normal but platelets cannot aggregate properly, causing recurrent nosebleeds, gum bleeding...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 1 million people worldwide, with higher frequency in some communities.China Second Rare Disease Catalog item 37

Glioblastoma

Glioblastoma is an aggressive adult primary central nervous system tumor that may cause new or worsening headache, seizures, weakness, speech or vision changes, and needs coordinated care from neurosu...

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is a rare central nervous system tumor, relatively common among adult malignant primary brain tumors but still uncommon in the general population.China Second Rare Disease Catalog item 38

Glutaric Acidemia Type I

Glutaric acidemia type I is an organic acid metabolism disorder that can cause acute brain injury and movement problems in infants and young children after infections or fasting if not identified in t...

Metabolic and Endocrine DisordersPrevalence: Generally rare, with variation across regions and populations; many areas can find clues through newborn screening.China First Rare Disease Catalog item 34

Glycogen Storage Disease (Type I, II)

Type I and Type II glycogen storage disease are both inherited metabolic conditions affecting how the body processes glycogen, but Type I mainly impacts blood sugar and liver/kidney metabolism, while ...

Metabolic and Endocrine DisordersPrevalence: Both are rare diseases. Estimated rates vary widely across countries and screening programs. Some regions have added these to newborn screening or high-risk screening.China First Rare Disease Catalog item 35

Gorlin syndrome

Gorlin syndrome is an inherited tumor predisposition syndrome that can cause early or repeated basal cell carcinomas, jaw keratocysts, small pits on the palms or soles, and skeletal features, requirin...

Rare TumorsPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 31,000 people, although mild cases and variable family expression affect recognition.China Second Rare Disease Catalog item 39

Hemophilia

Hemophilia is a group of inherited bleeding disorders caused by missing or low clotting factors. Type A and Type B are the most common forms, and people may have prolonged bleeding after joint, muscle...

Hematologic DisordersPrevalence: Hemophilia A is more common than Hemophilia B. Severity depends on clotting factor activity levels. Female carriers may also have bleeding symptoms.China First Rare Disease Catalog item 36

Hepatolenticular Degeneration (Wilson Disease)

Hepatolenticular degeneration is an ATP7B-related copper metabolism disorder in which copper accumulates in the liver, brain, and other tissues, potentially causing liver disease, movement disorders, ...

Metabolic and Endocrine DisordersPrevalence: Generally rare, often identified in children, teenagers, or young adults, though the age range is broad; age alone should not completely rule out the diagnosis.China First Rare Disease Catalog item 37

Hereditary Angioedema (HAE)

Hereditary angioedema is a condition involving recurrent deep swelling that can affect the skin, gastrointestinal tract, and upper airway; airway involvement may be life-threatening.

Immunologic and Rheumatologic DisordersPrevalence: Overall rare, symptoms often begin in childhood or adolescence but may also be identified in adulthood.China First Rare Disease Catalog item 38

Hereditary Epidermolysis Bullosa

Hereditary epidermolysis bullosa is a group of genetic conditions in which the skin and mucous membranes are unusually fragile; even minor friction can cause blisters, erosions, chronic wounds, and pa...

Skeletal and Connective Tissue DisordersPrevalence: Overall rare, with many subtypes; severity varies greatly from localized blisters to multi-system involvement.China First Rare Disease Catalog item 39

Hereditary Fructose Intolerance

Hereditary Fructose Intolerance is an ALDOB-related fructose metabolism disorder. Ingestion of fructose, sucrose, or sorbitol may cause vomiting, low blood sugar, liver and kidney damage, among other ...

Metabolic and Endocrine DisordersPrevalence: MedlinePlus Genetics estimates a global incidence of approximately 1/20,000-1/30,000 annually; mild cases or those who spontaneously avoid dietary triggers may be identified later.China First Rare Disease Catalog item 40

Hereditary Hypomagnesemia

Hereditary hypomagnesemia is a group of genetic disorders affecting magnesium absorption in the intestines or retention in the kidneys, which can lead to various presentations including low magnesium,...

Renal and Urologic DisordersPrevalence: Overall rare with significant variation by genetic type; some present in infancy, while others are found in childhood or adulthood due to low magnesium, kidney calcification, or family screening.China First Rare Disease Catalog item 41

CADASIL

CADASIL is a NOTCH3-related hereditary small vessel disease of the brain, which can cause migraine with aura, recurrent lacunar strokes, mood changes, cognitive decline, and white matter changes.

Neurological DisordersPrevalence: Overall rare, but the NOTCH3-related phenotype spectrum is broad; some families present with typical features, while others have milder symptoms or are identified later.China First Rare Disease Catalog item 42

Hereditary Spastic Paraplegia

Hereditary spastic paraplegia is a group of inherited neurological disorders whose core features are spasticity, stiffness, and walking difficulty affecting both legs.

Neurological DisordersPrevalence: Generally rare. Many genes are involved. Age of onset can range from childhood to adulthood, and progression speed varies widely.China First Rare Disease Catalog item 43

Hidradenitis suppurativa

Hidradenitis suppurativa is a chronic, recurrent inflammatory skin disease that often causes painful nodules, abscesses, draining tunnels, and scarring in friction-prone areas such as the armpits, gro...

Dermatologic DisordersPrevalence: Included in China's second rare disease catalog; estimates vary widely, and underdiagnosis or misdiagnosis strongly affects statistics.China Second Rare Disease Catalog item 40

Holocarboxylase Synthetase Deficiency

Holocarboxylase Synthetase Deficiency is a genetic metabolic disorder affecting biotin utilization. In infants, it may present with feeding difficulties, rash, hair loss, breathing problems, sleepines...

Metabolic and Endocrine DisordersPrevalence: MedlinePlus Genetics mentions an estimated incidence of approximately 1 in 87,000 people; actual identification is influenced by newborn screening and access to metabolic testing.China First Rare Disease Catalog item 44

Homocysteinemia

Homocysteinemia is a group of inherited metabolic disorders in which amino acid metabolism abnormalities cause homocysteine to build up in the blood. Typical features include eye abnormalities, bone p...

Metabolic and Endocrine DisordersPrevalence: The classic form (cystathionine beta-synthase deficiency) has a global prevalence of approximately 1/200,000 to 1/350,000, with considerable variation by region.China First Rare Disease Catalog item 45

Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia is a serious inherited lipid metabolism disorder where patients have extremely high LDL-C levels, and can develop skin xanthomas and early-onset atherosclerosi...

Metabolic and Endocrine DisordersPrevalence: Extremely rare, with a global prevalence of approximately 1 in 160,000 to 1 in 300,000, though it may be higher in certain populations due to founder effects.China First Rare Disease Catalog item 46

Huntington Disease

Huntington's disease is a rare autosomal dominant neurodegenerative disease, characterized primarily by involuntary choreiform movements, psychiatric symptoms, and progressive cognitive decline.

Neurological DisordersPrevalence: Global prevalence is approximately 5–10 per 100,000; rates are higher in European and North American populations and lower in Asian populations.China First Rare Disease Catalog item 47

Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome is an extremely rare childhood premature-aging condition, usually caused by a new LMNA variant, with severe growth failure, loss of body fat, skin and hair changes...

Genetic and Developmental DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics describes it as extremely rare, with most cases caused by new variants rather than inherited from a parent.China Second Rare Disease Catalog item 41

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

HHH Syndrome is a rare autosomal recessive inherited disorder caused by mutations in the SLC25A15 gene, which leads to impaired mitochondrial ornithine transport, resulting in elevated blood ammonia, ...

Metabolic and Endocrine DisordersPrevalence: Extremely rare, with fewer than 100 cases reported worldwide, making it one of the rarest types of urea cycle disordersChina First Rare Disease Catalog item 48

Hyperphenylalaninemia

Hyperphenylalaninemia (HPA) is a group of common inherited amino acid metabolic disorders caused by deficiency of phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4), leading to ...

Metabolic and Endocrine DisordersPrevalence: Incidence in Chinese newborns 1985-2011: approximately 1 in 10,397; varies widely across global regionsChina First Rare Disease Catalog item 49

Hypophosphatasia

Hypophosphatasia is a rare single-gene inherited disorder caused by ALPL gene mutations that reduce alkaline phosphatase activity, leading to impaired bone and tooth mineralization. It was included in...

Skeletal and Connective Tissue DisordersPrevalence: Severe form incidence is approximately 1/100,000; milder forms have higher incidence; classified as a rare disease in ChinaChina First Rare Disease Catalog item 50

Hypophosphatemic Rickets

Hypophosphatemic rickets is a group of inherited or acquired diseases in which excessive phosphate loss by the kidneys leads to low blood phosphate levels, causing impaired bone mineralization; it pre...

Skeletal and Connective Tissue DisordersPrevalence: Incidence is approximately 3.9 per 100,000, with a prevalence of about 1 in 21,000; XLH accounts for more than 80% of inherited hypophosphatemic rickets.China First Rare Disease Catalog item 51

Idiopathic Cardiomyopathy

Idiopathic cardiomyopathy is a group of myocardial diseases diagnosed after excluding clearly identifiable secondary causes, which may present with heart failure, arrhythmias, conduction abnormalities...

Cardiovascular DisordersPrevalence: The prevalence of idiopathic dilated cardiomyopathy (DCM) is approximately 36.5/100,000 (about 1/2,700), with about 20-35% being familial. The prevalence of arrhythmogenic right ventricular cardiomyopathy (ARVC) is approximately 1/2,000 to 1/1,000. The estimated prevalence of restrictive cardiomyopathy is approximately 1/100,000 to 9/100,000. The detection rate of left ventricular noncompaction by echocardiography is approximately 1.4/10,000.China First Rare Disease Catalog item 52

Idiopathic Hypogonadotropic Hypogonadism

Idiopathic Hypogonadotropic Hypogonadism is a rare endocrine disorder caused by impaired function of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, leading to insufficient secretion of go...

Metabolic and Endocrine DisordersPrevalence: The overall incidence of IHH is approximately 1~10/100,000. Kallmann syndrome (KS) accounts for about 40%~60% of all IHH patients, with a prevalence of approximately 1/48,000 in Finland, more common in males than females. Some KS patients may experience spontaneous remission (approximately 10%~20%).China First Rare Disease Catalog item 53

Inflammatory myofibroblastic tumor

Inflammatory myofibroblastic tumor is a rare intermediate soft tissue tumor that can arise in the lung, abdomen, pelvis, bladder, head and neck, or other sites, and often needs pathology plus ALK and ...

Rare TumorsPrevalence: Included in China's second rare disease catalog; GARD lists inflammatory myofibroblastic tumor as a rare disease that can affect children, adolescents, and adults.China Second Rare Disease Catalog item 42

Kallmann Syndrome

Kallmann syndrome often presents as delayed puberty or underdeveloped secondary sex characteristics with reduced or absent smell, and diagnosis usually requires endocrine evaluation.

Genetic and Developmental DisordersPrevalence: Estimated at about 1 in 30,000 males and 1 in 120,000 females; actual diagnosis rates may vary by care pathway.ICD-10: E23.0China First Rare Disease Catalog item 59

Leber congenital amaurosis

Leber congenital amaurosis is a group of inherited retinal diseases beginning in infancy or early childhood, causing severe visual impairment, nystagmus, light sensitivity, or night blindness and requ...

Ophthalmologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics describes LCA as a rare condition accounting for a small share of retinal dystrophies.China Second Rare Disease Catalog item 43

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a severe childhood-onset developmental and epileptic encephalopathy with multiple seizure types, drop attacks, cognitive and behavioral difficulties, and seizures that are o...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; Epilepsy Foundation describes it as an uncommon but severe childhood epilepsy syndrome.China Second Rare Disease Catalog item 44

Limbal stem cell deficiency

Limbal stem cell deficiency occurs when the stem cells at the edge of the cornea are reduced or dysfunctional, causing recurrent redness, pain, light sensitivity, reduced vision, unstable corneal surf...

Ophthalmologic DisordersPrevalence: Included in China's second rare disease catalog; it is uncommon and may follow chemical or thermal injury, severe ocular surface inflammation, congenital disease, contact lens damage, or repeated eye surgery.China Second Rare Disease Catalog item 45

Malignant hyperthermia

Malignant hyperthermia is an inherited anesthesia emergency in which a person may feel well until certain inhaled anesthetics or succinylcholine trigger a fast, life-threatening high-metabolism reacti...

Multisystem DisordersPrevalence: Included in China's second rare disease catalog; many susceptible people are never identified because they have not been exposed to triggering anesthetic drugs.China Second Rare Disease Catalog item 46

Malignant pleural mesothelioma

Malignant pleural mesothelioma is a rare cancer of the pleural lining, often linked to asbestos exposure, that may first look like recurrent pleural fluid, breathlessness, or chest pain.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is uncommon overall, but risk is higher after asbestos or related occupational exposure, often many years earlier.China Second Rare Disease Catalog item 47

Melanoma

Melanoma is a cancer of melanocytes that can arise in skin, nails, mucosa, or the eye; it is included in China's second rare disease catalog, although frequency varies greatly by country and ancestry.

Rare TumorsPrevalence: Included in China's second rare disease catalog; melanoma is not globally rare in every region, and acral or mucosal melanoma deserves particular attention in many Asian populations.China Second Rare Disease Catalog item 48

Metachromatic leukodystrophy

Metachromatic leukodystrophy is usually an ARSA-related lysosomal storage disease in which sulfatides build up and progressively damage central and peripheral nerve myelin.

Neurological DisordersPrevalence: Included in China's second rare disease catalog; international estimates are about 1 in 40,000 to 160,000 people, with higher rates in some genetically isolated groups.China Second Rare Disease Catalog item 49

Monogenic non-syndromic obesity

Monogenic non-syndromic obesity is early-onset severe obesity caused by a single-gene change that often affects hunger, fullness, and energy regulation rather than willpower.

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall, but should be considered in children with severe rapid weight gain before age 5 and persistent hyperphagia.China Second Rare Disease Catalog item 50

Multiple endocrine neoplasia

Multiple endocrine neoplasia is a group of inherited endocrine tumor syndromes in which one person can develop tumors or overgrowth in two or more hormone-producing glands.

Rare TumorsPrevalence: Included in China's second rare disease catalog; MEN1 and MEN2 are each estimated internationally at roughly tens of thousands of people per case, while MEN4 is rarer.China Second Rare Disease Catalog item 51

Narcolepsy

Narcolepsy is a chronic sleep-wake regulation disorder marked by uncontrollable daytime sleepiness, sometimes with cataplexy, sleep paralysis, hallucinations, and fragmented nighttime sleep.

Neurological DisordersPrevalence: Included in China's second rare disease catalog; frequency varies by region, and mild or pediatric cases may be underdiagnosed.China Second Rare Disease Catalog item 52

Neuroblastoma

Neuroblastoma is a sympathetic nervous system cancer seen mostly in infants and children, arising in the adrenal gland or paraspinal nerve tissue with highly variable risk and treatment intensity.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is an uncommon childhood cancer, usually diagnosed before age 5, and sometimes found before birth or in infancy.China Second Rare Disease Catalog item 53

Neurofibromatosis

Neurofibromatosis is a group of inherited nervous-system tumor predisposition disorders that can affect skin, peripheral nerves, brain and spine, eyes, bones, hearing, and learning.

Genetic and Developmental DisordersPrevalence: Included in China's second rare disease catalog; NF1 is the most common form, while NF2-related schwannomatosis and other schwannomatoses are rarer.China Second Rare Disease Catalog item 54

Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis is a group of inherited lysosomal neurodegenerative disorders that often cause vision loss, seizures, developmental or cognitive regression, movement problems, and incre...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; NCLs are rare overall but are an important cause of inherited childhood neurodegeneration, with age of onset and speed varying by CLN type.China Second Rare Disease Catalog item 55

Neurotrophic keratitis

Neurotrophic keratitis is an ocular surface disease caused by impaired corneal sensory nerves, where the eye may not hurt much even while epithelial defects, ulcers, or perforation risk develop.

Ophthalmologic DisordersPrevalence: Included in China's second rare disease catalog; it is uncommon and often follows herpes eye disease, trigeminal nerve injury, ocular surgery, diabetes, or chronic ocular surface disease.China Second Rare Disease Catalog item 56

Osteosarcoma

Osteosarcoma is a malignant bone tumor that makes abnormal bone-like tissue, often arising in adolescent long bones and usually requiring combined chemotherapy and surgery.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is uncommon overall, with a peak in adolescents and frequent involvement of long bones around the knee.China Second Rare Disease Catalog item 57

Pemphigus

Pemphigus is a group of autoimmune blistering diseases in which antibodies attack connections between skin or mucosal cells, causing recurrent blisters, erosions, and painful mouth or skin wounds.

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; pemphigus is rare overall, with pemphigus vulgaris often involving the mouth and pemphigus foliaceus more often affecting superficial skin.China Second Rare Disease Catalog item 58

Persistent pulmonary hypertension of the newborn

Persistent pulmonary hypertension of the newborn is a critical newborn condition in which lung blood vessels fail to relax after birth, causing severe low oxygen that needs rapid NICU care.

Respiratory DisordersPrevalence: Included in China's second rare disease catalog; it often occurs with perinatal hypoxia, meconium aspiration, pneumonia or sepsis, abnormal lung development, or congenital diaphragmatic hernia.China Second Rare Disease Catalog item 59

Pheochromocytoma

Pheochromocytoma is a neuroendocrine tumor of adrenal medulla chromaffin cells that can release catecholamines and cause episodic or sustained hypertension, palpitations, headache, and sweating.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is uncommon among people with hypertension, but important because it can cause hypertensive crisis, arrhythmia, and anesthesia risk.China Second Rare Disease Catalog item 60

PIK3CA-related overgrowth spectrum

PIK3CA-related overgrowth spectrum is a group of disorders caused by activating mosaic PIK3CA variants, leading to asymmetric overgrowth of soft tissue, vessels, lymphatics, fat, bone, or brain tissue...

Genetic and Developmental DisordersPrevalence: Included in China's second rare disease catalog; it is rare overall and often delayed because findings are split across vascular malformation, limb overgrowth, spine, or neurologic clinics.China Second Rare Disease Catalog item 61

Polycythaemia vera

Polycythaemia vera is a myeloproliferative neoplasm in which the bone marrow makes too many red blood cells, often with high white cells or platelets, thickening blood and increasing clot risk.

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; it is more common in older adults but can occur in younger people and must be distinguished from secondary erythrocytosis.China Second Rare Disease Catalog item 62

Primary biliary cholangitis

Primary biliary cholangitis is a chronic autoimmune cholestatic liver disease in which small intrahepatic bile ducts are gradually damaged, causing itch, fatigue, cholestasis, and fibrosis risk.

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; it is more common in middle-aged women, and many people are found before symptoms through alkaline phosphatase elevation and antimitochondrial antibodies.China Second Rare Disease Catalog item 63

Primary growth hormone deficiency

Primary growth hormone deficiency is insufficient growth hormone secretion from pituitary or hypothalamic causes, most often noticed in children as slow growth and marked short stature.

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; childhood GHD is uncommon, but should be assessed when growth velocity is clearly low or the height curve crosses downward.China Second Rare Disease Catalog item 64

Primary IGF1 deficiency

Primary IGF1 deficiency is a disorder in which the body cannot make enough IGF-1 or cannot respond properly to growth hormone, causing severe postnatal growth failure and short stature.

Metabolic and Endocrine DisordersPrevalence: Included in China's second rare disease catalog; severe primary IGF-1 deficiency is very rare and classically has very low height and IGF-1 with normal or high growth hormone.China Second Rare Disease Catalog item 65

Primary immunodeficiency

Primary immunodeficiency is a large group of inherited or inborn immune system disorders that can cause recurrent, severe, or unusual infections and may also involve autoimmunity, allergy, inflammatio...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; frequency varies greatly by subtype. NIAID notes more than 200 recognized forms and about 500,000 affected people in the United States.China Second Rare Disease Catalog item 66

Primary myelofibrosis

Primary myelofibrosis is a rare myeloproliferative neoplasm in which bone marrow is gradually replaced by fibrous tissue, causing anemia, enlarged spleen, constitutional symptoms, bleeding, or clot ri...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 500,000 people worldwide, most often diagnosed at ages 50 to 80 but possible at any age.China Second Rare Disease Catalog item 67

Primary sclerosing cholangitis

Primary sclerosing cholangitis is a chronic bile duct disease in which inflammation and scarring narrow bile ducts inside and outside the liver, causing cholestasis, liver injury, and frequent associa...

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; PSC is rare overall, varies by population and geography, and is often seen in people with inflammatory bowel disease such as ulcerative colitis.China Second Rare Disease Catalog item 68

Progressive fibrosing interstitial lung disease

Progressive fibrosing interstitial lung disease describes a progressive fibrosis pattern across several interstitial lung diseases, with worsening breathlessness, dry cough, lung function, or CT findi...

Respiratory DisordersPrevalence: Included in China's second rare disease catalog; it is not one single disease but a progressive phenotype across ILDs, so rarity and causes vary by region, ancestry, exposure, and underlying condition.China Second Rare Disease Catalog item 69

Recurrent pericarditis

Recurrent pericarditis is return of pericardial inflammation after a symptom-free interval, causing repeated chest pain and inflammation and sometimes pericardial effusion or tamponade risk.

Cardiovascular DisordersPrevalence: Included in China's second rare disease catalog; the American Heart Association notes that about 15% to 30% of people treated for acute pericarditis may have recurrence, and colchicine lowers recurrence risk.China Second Rare Disease Catalog item 70

Retinopathy of prematurity

Retinopathy of prematurity is abnormal retinal blood vessel development in premature or very low birth weight infants, which can cause retinal detachment and lifelong vision loss if severe.

Ophthalmologic DisordersPrevalence: Included in China's second rare disease catalog; risk is driven mainly by gestational age, birth weight, and neonatal illness, with the smallest and earliest babies at highest risk.China Second Rare Disease Catalog item 71

Rett syndrome

Rett syndrome is a neurodevelopmental disorder usually caused by MECP2 variants, often causing early developmental regression, loss of purposeful hand use, repetitive hand movements, seizures, and bre...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 9,000 to 10,000 females, while affected males are rare and often more severely affected.China Second Rare Disease Catalog item 72

Short bowel syndrome

Short bowel syndrome occurs when the small intestine is too short or too damaged to absorb enough fluids, electrolytes, and nutrients, causing diarrhea, dehydration, malnutrition, and sometimes long-t...

Digestive and Hepatic DisordersPrevalence: Included in China's second rare disease catalog; chronic SBS is rare and often follows bowel resection, congenital intestinal disorders, necrotizing enterocolitis, or Crohn disease.China Second Rare Disease Catalog item 73

Systemic juvenile idiopathic arthritis

Systemic juvenile idiopathic arthritis is a childhood-onset autoinflammatory disease with recurrent high fever, rash, and arthritis, with macrophage activation syndrome as a serious complication.

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; JIA is a group of childhood arthritis conditions, and systemic JIA is a less common subtype with frequency varying by population and criteria.China Second Rare Disease Catalog item 74

Systemic mastocytosis

Systemic mastocytosis is a rare blood disorder in which mast cells accumulate in bone marrow and other organs, causing flushing, itching, diarrhea, bone pain, allergic reactions, or organ damage.

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; MedlinePlus Genetics estimates about 1 in 10,000 to 20,000 people worldwide, with most adult cases linked to acquired KIT variants.China Second Rare Disease Catalog item 75

Takayasu arteritis

Takayasu arteritis is a rare large-vessel vasculitis that mainly affects the aorta and its major branches, causing narrowing, blockage, or aneurysm that can affect blood pressure and blood flow to the...

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; it is uncommon worldwide, reported more often in some Asian populations and in young women, but it can affect any sex or age.China Second Rare Disease Catalog item 76

Tenosynovial giant cell tumor/Pigmented villonodular synovitis

Tenosynovial giant cell tumor is a rare locally aggressive tumor of the synovium, tendon sheath, or bursa that is usually benign but can cause recurrent swelling, pain, locking, and joint damage.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is a rare soft tissue and joint-area tumor, with localized disease more common and diffuse disease more likely to recur or impair function.China Second Rare Disease Catalog item 77

Thalassemia major

Thalassemia major is a severe inherited globin production disorder that causes serious anemia in infancy or early childhood and often requires regular transfusions, iron chelation, and lifelong specia...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; thalassemia carrier frequency varies greatly by ancestry and region, being more common around the Mediterranean, Middle East, South Asia, Southeast Asia, and parts of southern China, while severe transfusion-dependent disease remains a rare specialist-managed condition.China Second Rare Disease Catalog item 78

Thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura is a rare, life-threatening thrombotic microangiopathy in which severe ADAMTS13 deficiency causes tiny clots, low platelets, hemolytic anemia, and organ injury.

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; TTP is rare and may be acquired immune-mediated or congenital from ADAMTS13 deficiency, with sudden episodes that can be life-threatening.China Second Rare Disease Catalog item 79

Transthyretin amyloidosis

Transthyretin amyloidosis is a systemic disease in which misfolded TTR protein deposits in nerves, the heart, and other tissues, causing peripheral neuropathy, cardiomyopathy, and autonomic or gastroi...

Multisystem DisordersPrevalence: Included in China's second rare disease catalog; hereditary ATTR varies widely by family and region, while wild-type ATTR cardiomyopathy is more common in older adults and is probably underdiagnosed.China Second Rare Disease Catalog item 80

Tumor-induced osteomalacia

Tumor-induced osteomalacia is a rare acquired phosphate-wasting bone disease, usually caused by a small hidden tumor producing excess FGF23 and leading to bone pain, muscle weakness, and fractures.

Rare TumorsPrevalence: Included in China's second rare disease catalog; TIO is very rare, and the causative tumor is often small and difficult to locate, so diagnosis can be delayed for years.China Second Rare Disease Catalog item 82

Tumor necrosis factor receptor-associated periodic syndrome

TRAPS is a rare inherited autoinflammatory disease in which TNFRSF1A variants cause recurrent long fever episodes with rash, muscle pain, abdominal pain, eye swelling, and high inflammatory markers.

Immunologic and Rheumatologic DisordersPrevalence: Included in China's second rare disease catalog; TRAPS is rare worldwide, often starts in childhood, and can also be diagnosed for the first time in adults.China Second Rare Disease Catalog item 81

Von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome is an autosomal dominant tumor predisposition syndrome that can cause cysts and tumors in the retina, brain and spinal cord, kidneys, adrenal glands, pancreas, and inner ear...

Rare TumorsPrevalence: Included in China's second rare disease catalog; NCI patient materials commonly cite an estimate of about 1 in 36,000 people, with wide variation even within families.China Second Rare Disease Catalog item 83

Von Willebrand disease type 3

Von Willebrand disease type 3 is the rarest and most severe VWD type, with little or no functional VWF and often low factor VIII, causing recurrent mucosal, soft tissue, joint, and procedure-related b...

Hematologic DisordersPrevalence: Included in China's second rare disease catalog; VWD overall is common, but type 3 is rare and usually autosomal recessive.China Second Rare Disease Catalog item 84

Waldenström macroglobulinemia/Lymphoplasmacytic lymphoma

Waldenström macroglobulinemia is a rare indolent B-cell lymphoma in which lymphoplasmacytic cells in bone marrow produce excess IgM, causing anemia, infection, bleeding, neuropathy, or hyperviscosity.

Rare TumorsPrevalence: Included in China's second rare disease catalog; it is a rare non-Hodgkin lymphoma, more often diagnosed in older adults.China Second Rare Disease Catalog item 85

West syndrome/Infantile spasms syndrome

West syndrome/infantile spasms syndrome is a severe infant epilepsy syndrome with clusters of brief nodding, jackknife, or extension spasms, abnormal EEG, and possible developmental arrest or regressi...

Neurological DisordersPrevalence: Included in China's second rare disease catalog; it most often appears in the first year of life and is a pediatric neurology emergency to recognize early.China Second Rare Disease Catalog item 86

Idiopathic Pulmonary Arterial Hypertension

Idiopathic pulmonary arterial hypertension is a rare vascular disease of unknown cause characterized by elevated pulmonary artery pressure leading to right heart failure; early presentation is exertio...

Cardiovascular DisordersPrevalence: Annual incidence is approximately 0.9–10.7 cases per million; prevalence is about 6–26 cases per million; more common in women.China First Rare Disease Catalog item 54

Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis is a progressive interstitial lung disease of unknown cause characterized by scarring of lung tissue, manifesting as exertional dyspnea and dry cough; antifibrotic medica...

Respiratory DisordersPrevalence: Incidence is approximately 0.09–1.30 per 10,000 persons; prevalence is about 0.33–4.51 per 10,000; primarily affects men over 60; median survival is 3–5 years after diagnosis.China First Rare Disease Catalog item 55

IgG4-Related Disease

IgG4-related disease is a chronic immune-mediated fibroinflammatory condition that can affect multiple organs, characterized by IgG4-positive plasma cell infiltration and fibrosis, often presenting as...

Immunologic and Rheumatologic DisordersPrevalence: Prevalence is unknown; primarily affects middle-aged to older men; recognition has increased in recent years with growing awareness.China First Rare Disease Catalog item 56

Inborn Errors of Bile Acid Synthesis

Inborn errors of bile acid synthesis are rare genetic enzyme deficiencies that impair hepatic bile acid production, leading to cholestasis, fat malabsorption, and fat-soluble vitamin deficiencies; ora...

Digestive and Hepatic DisordersPrevalence: Overall prevalence is unknown; all types are extremely rare; 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency is the most common form.China First Rare Disease Catalog item 57

Isovaleric Acidemia

Isovaleric acidemia is an autosomal recessive organic acidemia caused by isovaleryl-CoA dehydrogenase deficiency, leading to toxic accumulation of isovaleric acid; metabolic crises can occur in the ne...

Metabolic and Endocrine DisordersPrevalence: Incidence is approximately 1 in 62,000–250,000 live births; varies by region, with higher rates reported in some German populations.China First Rare Disease Catalog item 58

Langerhans Cell Histiocytosis

Langerhans cell histiocytosis is a rare disease characterized by abnormal proliferation of Langerhans cells that can affect bones, skin, the pituitary, and other organs; treatment is stratified by ext...

Rare TumorsPrevalence: Annual incidence is approximately 0.5–5.4 cases per million; most common in children, with peak age 1–3 years; pulmonary LCH in adults is rare and strongly associated with smoking.China First Rare Disease Catalog item 60

Laron Syndrome

Laron syndrome is an autosomal recessive disorder caused by growth hormone receptor deficiency leading to insufficient insulin-like growth factor-1 (IGF-1) production; it presents with severe growth f...

Metabolic and Endocrine DisordersPrevalence: Extremely rare; approximately 250–300 cases reported worldwide; higher prevalence in certain populations such as Israel, Mediterranean regions, and Ecuador.China First Rare Disease Catalog item 61

Leber Hereditary Optic Neuropathy

Leber hereditary optic neuropathy is a maternally inherited mitochondrial disease caused by mitochondrial DNA mutations leading to optic nerve degeneration; it presents with painless, subacute central...

Ophthalmologic DisordersPrevalence: Prevalence is approximately 1 in 30,000–50,000; most common in young men aged 15–35 years; male-to-female ratio is approximately 3:1 to 8:1.China First Rare Disease Catalog item 62

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency is an autosomal recessive fatty acid oxidation disorder caused by HADHA gene mutations that prevent effective utilization of long-chain fats for e...

Metabolic and Endocrine DisordersPrevalence: Extremely rare; prevalence is approximately 1 in 100,000–200,000; higher incidence reported in parts of Northern Europe such as Estonia and Finland.China First Rare Disease Catalog item 63

Lymphangioleiomyomatosis (LAM)

Lymphangioleiomyomatosis is a rare cystic lung disease that almost exclusively affects women, characterized by abnormal proliferation of smooth muscle-like LAM cells leading to cystic lung destruction...

Respiratory DisordersPrevalence: Prevalence is approximately 1 in 400,000–1,000,000; occurs almost exclusively in women, especially during reproductive years; both sporadic LAM and TSC-associated LAM are recognized.China First Rare Disease Catalog item 64

Lysinuric Protein Intolerance

Lysinuric protein intolerance is an autosomal recessive amino acid transport disorder caused by SLC7A7 gene mutations that impair intestinal and renal absorption of dibasic amino acids; high-protein m...

Metabolic and Endocrine DisordersPrevalence: Extremely rare; prevalence is approximately 1 in 60,000–200,000; highest incidence in the Finnish population (about 1 in 20,000), with cases also reported in Japan and Italy.China First Rare Disease Catalog item 65

Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency is an autosomal recessive lysosomal storage disease caused by LIPA gene mutations that prevent breakdown of cholesterol esters and triglycerides within lysosomes, lead...

Metabolic and Endocrine DisordersPrevalence: Prevalence is approximately 1 in 40,000–300,000; the severe infantile form (Wolman disease) is extremely rare, while the late-onset form (cholesterol ester storage disease) is more common but frequently underdiagnosed.China First Rare Disease Catalog item 66

Maple Syrup Urine Disease

Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, or DBT genes; toxic accumulation of leucine, isoleucine, and...

Metabolic and Endocrine DisordersPrevalence: Incidence is approximately 1 in 185,000–300,000 live births; much higher in the Mennonite population (about 1 in 380).China First Rare Disease Catalog item 67

Marfan Syndrome

Marfan syndrome is an autosomal dominant connective tissue disorder caused by FBN1 gene mutations leading to fibrillin-1 deficiency; it affects the skeleton, eyes, and cardiovascular system, with aort...

Skeletal and Connective Tissue DisordersPrevalence: Prevalence is approximately 1 in 5,000–10,000; no gender or racial predilection; approximately 75% are familial and 25% arise from de novo mutations.China First Rare Disease Catalog item 68

McCune-Albright Syndrome

McCune-Albright syndrome is a rare mosaic disorder caused by somatic GNAS gene mutations that lead to fibrous dysplasia of bone, café-au-lait skin spots, and endocrine hyperfunction (precocious pubert...

Genetic and Developmental DisordersPrevalence: Prevalence is approximately 1 in 100,000–1,000,000; affects both sexes, but female precocious puberty is more prominent; no racial predilection.China First Rare Disease Catalog item 69

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

MCADD is the most common fatty acid oxidation disorder, caused by ACADM gene variants that prevent the body from breaking down medium-chain fats for energy, often leading to hypoketotic hypoglycemia d...

Metabolic and Endocrine DisordersPrevalence: Worldwide incidence approximately 1 in 15,000 live births; higher in Northern European populations (e.g., approximately 1 in 8,500 in the Netherlands). Neonatal screening coverage is expanding in China.China First Rare Disease Catalog item 70

Methylmalonic Acidemia

Methylmalonic acidemia is a group of autosomal recessive organic acidemias caused by deficiency of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin, leading to toxic accumulation of methylma...

Metabolic and Endocrine DisordersPrevalence: Worldwide incidence approximately 1 in 50,000 to 1 in 100,000 live births; neonatal screening is expanding in China with regional variation in detection rates.China First Rare Disease Catalog item 71

Mitochondrial Encephalomyopathy

Mitochondrial encephalomyopathies are a group of progressive disorders caused by defects in mitochondrial function, affecting tissues with high energy demands such as the brain, muscles, heart, and ne...

Metabolic and Endocrine DisordersPrevalence: The overall incidence of primary mitochondrial disease is approximately 1 in 5,000 live births; each specific subtype is rarer. Mitochondrial disorders are among the most common inherited metabolic disorders in adults.China First Rare Disease Catalog item 72

Mucopolysaccharidosis

Mucopolysaccharidoses are a group of autosomal recessive or X-linked lysosomal storage disorders caused by deficiency of specific enzymes needed to break down glycosaminoglycans, leading to progressiv...

Metabolic and Endocrine DisordersPrevalence: Combined incidence of all MPS types is approximately 1 in 25,000 live births. MPS I (Hurler) approximately 1 in 100,000; MPS II (Hunter) approximately 1 in 100,000 to 1 in 170,000 males; MPS VI (Maroteaux-Lamy) approximately 1 in 250,000 to 1 in 600,000.China First Rare Disease Catalog item 73

Multifocal Motor Neuropathy

Multifocal motor neuropathy is a rare, treatable immune-mediated peripheral neuropathy characterized by progressive asymmetric weakness in the limbs without significant sensory loss, often with motor ...

Neurological DisordersPrevalence: Estimated prevalence approximately 1-2 per 100,000 population; onset typically between ages 20 and 70, with a slight male predominance.China First Rare Disease Catalog item 74

Multiple Acyl-CoA Dehydrogenase Deficiency

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a group of autosomal recessive fatty acid oxidation disorders caused by defects in electron transfer flavoprotein (ETF) or its dehydrogenase (ETFDH...

Metabolic and Endocrine DisordersPrevalence: Neonatal-onset forms occur in approximately 1 in 100,000 to 1 in 250,000 live births; late-onset forms are more common, particularly ETFDH-related MADD in Chinese and East Asian populations.China First Rare Disease Catalog item 75

Multiple Sclerosis

Multiple sclerosis is a chronic autoimmune demyelinating disease of the central nervous system in which the immune system mistakenly attacks the myelin sheath covering nerve fibers, disrupting nerve s...

Neurological DisordersPrevalence: Worldwide prevalence is approximately 30-100 per 100,000; highest incidence in Northern Europe and North America. China is a low-prevalence region, but detection rates are rising with improved diagnostics, with an estimated prevalence of approximately 2-5 per 100,000.China First Rare Disease Catalog item 76

Multiple System Atrophy

Multiple system atrophy is a rare, sporadic, rapidly progressive neurodegenerative disorder characterized by a combination of autonomic failure, parkinsonian features, and cerebellar ataxia, with path...

Neurological DisordersPrevalence: Prevalence is approximately 2-5 per 100,000; onset is typically in the 50s-60s, with slight male predominance. Disease progression is rapid, with median survival of approximately 6-10 years after diagnosis.China First Rare Disease Catalog item 77

Myotonic Dystrophy

Myotonic dystrophy is a group of autosomal dominant multisystem disorders characterized by myotonia, progressive muscle weakness, and characteristic multisystem involvement including frontal balding, ...

Neurological DisordersPrevalence: DM1 is the most common adult muscular dystrophy worldwide, with a prevalence of approximately 5-20 per 100,000; DM2 prevalence is approximately 1-5 per 100,000. DM1 has a congenital form that can present with severe symptoms at birth.China First Rare Disease Catalog item 78

N-acetylglutamate Synthase Deficiency

N-acetylglutamate synthase deficiency is the rarest urea cycle disorder, caused by NAGS gene variants that prevent synthesis of N-acetylglutamate, the essential cofactor for carbamoyl phosphate synthe...

Metabolic and Endocrine DisordersPrevalence: Extremely rare, with only several dozen cases reported worldwide. It is the least common urea cycle disorder, but clinical presentations can be very severe. A small number of cases have been reported in China.China First Rare Disease Catalog item 79

Neonatal Diabetes Mellitus

Neonatal diabetes mellitus is a group of monogenic forms of diabetes diagnosed within the first six months of life, divided into transient and permanent types; approximately 50% are caused by KCNJ11 o...

Metabolic and Endocrine DisordersPrevalence: Incidence is approximately 1 in 90,000 to 1 in 260,000 live births; it represents an important cause of hyperglycemia in the newborn period. With expanding genetic testing, more cases are being accurately classified.China First Rare Disease Catalog item 80

Neuromyelitis Optica

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory demyelinating disease of the central nervous system characterized by anti-aquaporin-4 antibodies (AQP4-IgG), primarily affe...

Neurological DisordersPrevalence: Worldwide prevalence is approximately 0.5-4 per 100,000; more common in Asian and African populations, with a marked female predominance (approximately 4-9:1). Detection rates in China are rising with AQP4 antibody testing availability.China First Rare Disease Catalog item 81

Niemann-Pick Disease

Niemann-Pick disease is a group of inherited lysosomal storage disorders, mainly divided into types A/B (acid sphingomyelinase deficiency) and type C (NPC1/NPC2 gene mutations causing defective intrac...

Metabolic and Endocrine DisordersPrevalence: Types A/B combined occur in approximately 1 in 250,000 live births; type C occurs in approximately 1 in 100,000 to 1 in 150,000. Carrier frequency varies among populations, with certain mutations more common in people of Hispanic descent.China First Rare Disease Catalog item 82

Non-Syndromic Deafness

Non-syndromic deafness refers to inherited hearing loss without associated abnormalities in other organ systems; approximately 50% of cases are caused by GJB2 gene mutations, making it the most common...

Genetic and Developmental DisordersPrevalence: Worldwide congenital deafness occurs in approximately 1-3 per 1,000 newborns, with approximately 50-60% being genetic, and approximately 70% of genetic deafness being non-syndromic. Newborn hearing screening coverage in China exceeds 90%, with GJB2 mutations being the most common cause.China First Rare Disease Catalog item 83

Noonan Syndrome

Noonan syndrome is a group of autosomal dominant RAS/MAPK pathway disorders (RASopathies) characterized by distinctive facial features, short stature, congenital heart disease (especially pulmonary va...

Genetic and Developmental DisordersPrevalence: Incidence is approximately 1 in 1,000 to 1 in 2,500 live births, making it one of the more common single-gene genetic syndromes. It affects both sexes and all ethnicities equally.China First Rare Disease Catalog item 84

Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency is an X-linked urea cycle disorder caused by mutations in the OTC gene, leading to impaired ammonia detoxification and life-threatening hyperammonemia; phenylbuty...

Metabolic and Endocrine DisordersPrevalence: Estimated prevalence is approximately 1 in 56,000 to 1 in 77,000 live births. It is the most common urea cycle disorder. Males are more severely affected due to X-linked inheritance; female carriers can have variable symptoms.China First Rare Disease Catalog item 85

Osteogenesis Imperfecta (Brittle Bone Disease)

Osteogenesis Imperfecta

Osteogenesis imperfecta is a group of inherited connective tissue disorders caused by defects in type I collagen (primarily COL1A1 and COL1A2 genes), characterized by bone fragility leading to frequen...

Skeletal and Connective Tissue DisordersPrevalence: Estimated prevalence is approximately 6 to 7 per 100,000 people worldwide. It affects all ethnic groups equally. Approximately 35% of cases are due to new mutations with no family history.China First Rare Disease Catalog item 86

Parkinson Disease (Young-onset, Early-onset)

Young-onset Parkinson disease refers to Parkinson disease diagnosed before age 50, with approximately 10-20% of cases having a genetic basis involving genes such as LRRK2, PARK2, PINK1, and SNCA; it i...

Neurological DisordersPrevalence: Parkinson disease affects approximately 1-2 per 1,000 people overall; young-onset (<50 years) accounts for approximately 5-10% of all cases. In China, there are over 3 million people with Parkinson disease, with young-onset cases likely underdiagnosed due to diagnostic delay.China First Rare Disease Catalog item 87

Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria is a rare acquired clonal hematopoietic stem cell disorder caused by PIGA gene mutations, resulting in deficiency of glycosylphosphatidylinositol (GPI)-anchored pro...

Hematologic DisordersPrevalence: Estimated prevalence is approximately 1 to 1.5 per million people. Peak incidence is in the 30s to 40s, affecting both sexes equally. Asian populations may have a slightly higher incidence. Approximately 10-15% of patients with aplastic anemia may develop PNH.China First Rare Disease Catalog item 88

Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome is a rare autosomal dominant hereditary cancer syndrome caused by STK11/LKB1 gene mutations, characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin pig...

Digestive and Hepatic DisordersPrevalence: Estimated prevalence is approximately 1 in 25,000 to 1 in 280,000. There is no sex or racial predilection. Due to nonspecific symptoms, the true prevalence may be underestimated. Approximately 50% of cases are familial, and 50% are due to new mutations.China First Rare Disease Catalog item 89

Phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by deficiency of phenylalanine hydroxylase, leading to toxic buildup of phenylalanine; newborn screening enables e...

Metabolic and Endocrine DisordersPrevalence: Global incidence is approximately 1 in 10,000–24,000 live births; in China about 1 in 15,924. Rates vary significantly by ethnicity and geography, with higher incidence in Northern Europe, Turkey, and parts of China.China First Rare Disease Catalog item 90