Rare Disease List

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

Found 54 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

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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

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

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

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

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

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

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

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

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

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

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