Understanding Rare Diseases

1 in 15,000 to 40,000 live births 50 trials

Achondroplasia

Also known as: ACH, Dwarfism

Achondroplasia is the most common form of dwarfism, characterized by rhizomelic shortening of the limbs, relatively large head with frontal bossing, a...

Geneticist, Pediatrician

Gastroenterologist, Neurologist

Acute Intermittent Porphyria

Also known as: AIP, Swedish Porphyria

Acute Intermittent Porphyria (AIP) is a rare genetic metabolic disorder characterized by deficiency of the enzyme hydroxymethylbilane synthase (also k...

1 in 20,000 15 trials

1 in 200,000 to 1 in 1,000,000 live births 5 trials

Adenosine Deaminase Deficiency (ADA Deficiency)

Also known as: ADA-SCID, Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency

Adenosine Deaminase Deficiency (ADA Deficiency) is a rare, inherited metabolic disorder that causes severe combined immunodeficiency (SCID). It result...

Immunologist, Geneticist

1 in 17,000 males 30 trials

Adrenoleukodystrophy

Also known as: ALD, X-linked Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a genetic disorder characterized by the buildup of very long-chain fatty acids (VLCFAs) in the brain, nervous system, an...

Neurologist, Endocrinologist

Estimated 1 in 30,000 to 1 in 70,000 live births 25 trials

Alagille Syndrome

Also known as: ALGS, Arteriohepatic Dysplasia

Alagille syndrome is a genetic disorder that affects multiple organ systems in the body, including the liver, heart, kidneys, and eyes. The most promi...

Gastroenterologist, Hepatologist

Estimated at less than 1 in 1,000,000 5 trials

Alexander Disease

Also known as: AxD, Fibrillary Astrocytopathy

Alexander disease is a rare and often fatal neurological disorder characterized by the progressive destruction of white matter in the brain (leukodyst...

1 in 3,000 to 1 in 5,000 individuals of European descent 50 trials

Alpha-1 Antitrypsin Deficiency

Also known as: AATD, Alpha1-antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder characterized by a deficiency of alpha-1 antitrypsin (AAT), a protein primarily produced i...

Pulmonologist, Hepatologist

2 to 5 per 100,000 156 trials

Amyotrophic Lateral Sclerosis

Also known as: ALS, Lou Gehrig's Disease

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, causing loss of muscle...

Neurologist, Pulmonologist

1 in 12,000 to 1 in 20,000 live births 30 trials

Angelman Syndrome

Also known as: AS, Happy Puppet Syndrome

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. It is characterized by severe intellectual disability, dela...

40-50 per 100,000 150 trials

Antiphospholipid Syndrome (APS)

Also known as: Hughes Syndrome, Anticardiolipin Syndrome

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies (aPL) in the blood, which leads...

Rheumatologist, Hematologist

1 in 65,000 to 1 in 88,000 live births 15 trials

Apert Syndrome

Also known as: Acrocephalosyndactyly Type I, ACS1

Apert syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain skull bones) and syndactyly (fusion) of the f...

Clinical Geneticist, Craniofacial Surgeon

🧠 Neurological

Arachnoiditis

Also known as: Spinal Arachnoiditis, Adhesive Arachnoiditis

Arachnoiditis is a painful and debilitating condition characterized by inflammation of the arachnoid membrane, one of the three membranes that surroun...

Unknown; considered rare

Neurologist, Pain Management Specialist

⚗️ Metabolic

Argyria

Also known as: Silver poisoning, Blue skin

Argyria is a rare condition caused by the accumulation of silver in the body, leading to a permanent bluish-gray discoloration of the skin and other t...

Extremely rare

Dermatologist, Toxicologist

1 in 3,000 to 1 in 5,000 live births 15 trials

Arthrogryposis Multiplex Congenita

Also known as: AMC, Multiple Congenital Contractures

Arthrogryposis Multiplex Congenita (AMC) describes a condition characterized by multiple joint contractures present at birth. It is not a specific dia...

Clinical Geneticist, Orthopedic Surgeon

Varies depending on the population and underlying conditions; higher in immunocompromised individuals. 50 trials

Aspergillosis

Also known as: Aspergillus infection, Fungal lung infection

Aspergillosis is an infection caused by Aspergillus, a common mold that lives indoors and outdoors. Most people breathe in Aspergillus spores every da...

Pulmonologist, Infectious Disease Specialist

Estimated 1 in 1,000,000 15 trials

Autoimmune Lymphoproliferative Syndrome

Also known as: ALPS, Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare genetic disorder characterized by a failure of lymphocyte homeostasis, leading to chronic, no...

Immunologist, Hematologist

1 in 100,000 to 1 in 160,000 in Europe and North America; higher in certain isolated populations 25 trials

Bardet-Biedl Syndrome

Also known as: BBS

Bardet-Biedl Syndrome (BBS) is a rare, genetically heterogeneous disorder characterized by a combination of clinical features, including retinal dystr...

Clinical Geneticist, Ophthalmologist

Approximately 1 in 100,000 live births 25 trials

Batten Disease

Also known as: Neuronal Ceroid Lipofuscinoses (NCLs), Spielmeyer-Vogt Disease

Batten disease is a rare, fatal, autosomal recessive neurodegenerative disorder that begins in childhood. It is the general name for a group of disord...

Neurologist, Pediatric Neurologist

5.2 per 100,000 worldwide; higher in countries along the Silk Road 150 trials

Behcet's Disease

Also known as: Behçet's Syndrome, Adamantiades-Behçet Disease

Behcet's Disease is a rare, chronic, multisystem inflammatory disorder characterized by recurrent oral ulcers, genital ulcers, and uveitis (eye inflam...

Rheumatologist, Ophthalmologist

Approximately 16 to 133 per million individuals 15 trials

Benign Essential Blepharospasm

Also known as: BEB, Idiopathic Blepharospasm

Benign Essential Blepharospasm (BEB) is a neurological movement disorder characterized by involuntary, forceful, and repetitive contractions of the mu...

Neurologist, Ophthalmologist

Less than 1 in 1,000,000 5 trials

Bernard-Soulier Syndrome

Also known as: BSS, Giant Platelet Syndrome

Bernard-Soulier syndrome (BSS) is a rare genetic bleeding disorder characterized by abnormally large platelets (thrombocytopenia), a reduced platelet ...

Hematologist, Geneticist

Less than 1 in 200,000 25 trials

Birt-Hogg-Dube Syndrome

Also known as: BHD Syndrome, Fibrofolliculomas, Trichodiscomas, and Acrochordons

Birt-Hogg-Dube (BHD) syndrome is a rare genetic disorder characterized by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), lung cysts a...

Dermatologist, Pulmonologist

1 in 200,000 to 1 in 400,000 live births 25 trials

Blackfan-Diamond Anemia

Also known as: Diamond-Blackfan Anemia, DBA

Blackfan-Diamond anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by a selective deficiency in erythroid progenitors, leadi...

Hematologist, Pediatric Hematologist

1 in 48,000 Ashkenazi Jews; rarer in other populations 5 trials

Bloom Syndrome

Also known as: Bloom-Torre-Machacek syndrome, Congenital telangiectatic erythema and stunted growth

Bloom syndrome is a rare autosomal recessive genetic disorder characterized by short stature, sun-sensitive skin rash (telangiectatic erythema) on the...

Gastroenterologist, Dermatologist

Blue Rubber Bleb Nevus Syndrome

Also known as: Bean Syndrome, BRBNS

Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare disorder characterized by the presence of multiple, distinctive, bluish-purple, rubbery, cutaneous (...

<1 / 1 000 000 3 trials

Borjeson-Forssman-Lehmann Syndrome

Also known as: BFLS, Mental Retardation, Epilepsy, Gynecomastia Syndrome

Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare X-linked intellectual disability syndrome characterized by intellectual disability, epilepsy, endo...

<1 / 1,000,000

Approximately 1-4 per 1,000 live births for obstetrical brachial plexus palsy; variable for traumatic injuries. 25 trials

Brachial Plexus Injury

Also known as: Brachial Plexus Palsy, Erb's Palsy

Brachial plexus injury refers to damage to the brachial plexus, a network of nerves that originates in the neck and shoulder and provides motor and se...

Neurologist, Neurosurgeon

1 in 40,000 to 1 in 200,000 live births

Campomelic Dysplasia

Also known as: CMD1, Campomelic syndrome

Campomelic dysplasia (CMD) is a rare, severe skeletal dysplasia characterized by bowing of the long bones, particularly the femurs and tibias (campome...

Clinical Geneticist, Pediatric Orthopedist

1 in 6,400 to 1 in 13,500 among Ashkenazi Jewish individuals; rarer in other populations. 5 trials

Canavan Disease

Also known as: Aspartoacylase Deficiency, ASPA Deficiency

Canavan disease is a rare, progressive, inherited neurological disorder characterized by the spongy degeneration of the white matter (myelin) in the b...

Endocrinologist, Cardiologist

Carney Complex

Also known as: CNC, LAMB syndrome

Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome characterized by spotty skin pigmentation (lentigines, blue nevi, and c...

<1 / 1 000 000 15 trials

1 in 50,000 to 1 in 150,000 live births 5 trials

Cat Eye Syndrome

Also known as: CES, Schmid-Fraccaro Syndrome

Cat Eye Syndrome (CES) is a rare genetic disorder caused by a partial trisomy or tetrasomy of chromosome 22, specifically involving the 22pter-q11 reg...

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Also known as: CADASIL, Hereditary multi-infarct dementia

CADASIL is a hereditary stroke disorder caused by mutations in the NOTCH3 gene. It leads to thickening of blood vessel walls, reducing blood flow to t...

1-9 / 100,000 15 trials

Estimated 1-9 / 100,000 15 trials

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Also known as: CADASIL syndrome, Hereditary multi-infarct dementia

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary stroke disorder caused by mutatio...

Charcot-Marie-Tooth Disease

Also known as: CMT, Hereditary Motor and Sensory Neuropathy

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves. These nerves carry signals from the brain and s...

1 in 2,500 100 trials

1 in 8,500 to 1 in 10,000 live births 25 trials

CHARGE Syndrome

Also known as: Hall-Hittner Syndrome, Coloboma, Heart Defects, Choanal Atresia, Retarded Growth and Development, Genital Hypoplasia, and Ear Anomalies

CHARGE syndrome is a rare, complex genetic disorder characterized by a specific pattern of congenital anomalies. The acronym CHARGE stands for Colobom...

Clinical Geneticist, Cardiologist

1 in 100,000 births 5 trials

Chondrodysplasia Punctata

Also known as: CDP, Conradi-Hünermann-Happle syndrome

Chondrodysplasia punctata (CDP) is a heterogeneous group of rare genetic disorders characterized by abnormalities of cartilage and bone development, l...

Clinical Geneticist, Pediatric Orthopedist

1 in 200,000 to 1 in 250,000 live births 30 trials

Chronic Granulomatous Disease

Also known as: CGD, Quie Syndrome

Chronic Granulomatous Disease (CGD) is a group of hereditary diseases in which certain cells of the immune system have difficulty forming reactive oxy...

Immunologist, Hematologist

Neurologist, Neuroimmunologist

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Also known as: CIDP, Chronic relapsing polyneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a rare acquired immune-mediated inflammatory disorder of the peripheral nervous system. It...

1-9 / 100,000 150 trials

Estimated at 1 in 200,000 to 1 in 250,000 live births 5 trials

Cockayne Syndrome

Also known as: CS, Neill-Dingwall syndrome

Cockayne syndrome (CS) is a rare, autosomal recessive disorder characterized by growth failure, impaired neurological development, sensitivity to sunl...

1 in 50,000 to 100,000 live births 5 trials

Coffin-Lowry Syndrome

Also known as: CLS, Mental Retardation with Facial and Digital Anomalies

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, skeletal abnormalities, ...

Clinical Geneticist, Pediatric Neurologist

1 in 10,000 to 1 in 15,000 live births 25 trials

Congenital Adrenal Hyperplasia

Also known as: CAH, Adrenogenital Syndrome

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders that affect the adrenal glands. These disorders result in the...

Endocrinologist, Pediatric Endocrinologist

1 in 50,000 to 1 in 200,000 live births 5 trials

Congenital Central Hypoventilation Syndrome

Also known as: CCHS, Ondine's Curse

Congenital Central Hypoventilation Syndrome (CCHS) is a rare, lifelong disorder affecting the autonomic nervous system, primarily impacting respirator...

Pulmonologist, Neurologist

Estimated 1 in 500,000 15 trials

Congenital Myasthenic Syndrome

Also known as: CMS, Familial infantile myasthenia

Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders affecting neuromuscular transmission. They are characterized by...

Neurologist, Clinical Geneticist

Estimated 1 in 300,000 to 1 in 1,250,000 live births 15 trials

Costello Syndrome

Also known as: RASopathy, Facio-cardio-cutaneous syndrome

Costello syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, cardiac abno...

Clinical Geneticist, Cardiologist

1 in 2,500 births 50 trials

Craniosynostosis

Also known as: Cranial stenosis, Premature cranial suture closure

Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant's skull prematurely fuses by turning into bone (ossification)...

Craniofacial Surgeon, Neurosurgeon

1 in 20,000 to 1 in 50,000 live births 5 trials

Cri-du-Chat Syndrome

Also known as: 5p Minus Syndrome, Cat Cry Syndrome

Cri-du-Chat syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm (p arm) of chromosome 5. The syndrome is cha...

1 in 25,000 live births 15 trials

Crouzon Syndrome

Also known as: Craniofacial Dysostosis, Crouzon Disease

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the...

Craniofacial Surgeon, Geneticist

1 in 2,500 to 3,500 Caucasian newborns 156 trials

Cystic Fibrosis

Also known as: CF, Mucoviscidosis

Cystic fibrosis is a progressive genetic disease that causes persistent lung infections and limits the ability to breathe over time. It affects the ce...

Pulmonologist, Gastroenterologist

1 in 30,000 to 1 in 100,000 15 trials

Darier's Disease

Also known as: Darier-White Disease, Keratosis Follicularis

Darier's disease (DD) is a rare autosomal dominant skin disorder characterized by persistent, greasy, and scaling papules and plaques on the seborrhei...

Dermatologist, Geneticist

Clinical Geneticist, Dermatologist

De Barsy Syndrome

Also known as: Autosomal Recessive Cutis Laxa, Progeroid Syndrome

De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by cutis laxa (loose, wrinkled skin), growth retardation, intellectual ...

Less than 1 in 1,000,000

Less than 1 in 100,000 5 trials

Dejerine-Sottas Disease

Also known as: Hereditary Motor and Sensory Neuropathy Type 3, HMSN III

Dejerine-Sottas disease (DSD) is a rare, inherited neurological disorder characterized by progressive muscle weakness and sensory loss, typically begi...

Rheumatologist, Dermatologist

Dermatomyositis

Also known as: DM, Polymyositis with skin involvement

Dermatomyositis is a rare autoimmune disease characterized by muscle inflammation (myositis) and a distinctive skin rash. The condition can affect bot...

1 in 100,000 150 trials

🎗️ Oncological Active Research

Desmoplastic Small Round Cell Tumor

Also known as: DSRCT, Desmoplastic Small Round Cell Sarcoma

Desmoplastic Small Round Cell Tumor (DSRCT) is a rare and aggressive type of cancer that primarily occurs in adolescents and young adults. It is chara...

Very rare (less than 1 in 1,000,000) 25 trials

Pediatric Oncologist, Medical Oncologist

1 in 3,000 to 1 in 6,000 live births 35 trials

DiGeorge Syndrome

Also known as: 22q11.2 deletion syndrome, Velocardiofacial syndrome (VCFS)

DiGeorge syndrome is a genetic disorder caused by a deletion on chromosome 22, specifically at the 22q11.2 locus. This deletion leads to the maldevelo...

Clinical Geneticist, Cardiologist

Rare (estimated 1-9 / 1,000,000) 5 trials

Distal Spinal Muscular Atrophy

Also known as: dSMA, Distal SMA

Distal spinal muscular atrophy (dSMA) comprises a group of rare genetic disorders characterized by progressive muscle weakness and wasting (atrophy) p...

Endocrinologist, Geneticist

Donohue Syndrome (Leprechaunism)

Also known as: Leprechaunism, Insulin Resistance Syndrome Type A

Donohue syndrome, also known as leprechaunism, is a rare genetic disorder characterized by extreme insulin resistance, growth retardation, and distinc...

Less than 1 in 1,000,000

Dubowitz Syndrome

Also known as: Facio-oculo-acousticorenal syndrome, Dubowitz-like syndrome

Dubowitz syndrome is a rare genetic disorder characterized by growth retardation, microcephaly, distinctive facial features, eczema, and mild to moder...

Less than 1 in 1,000,000

Approximately 1 in 3,500-5,000 live male births 250 trials

Duchenne Muscular Dystrophy

Also known as: DMD, Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy (DMD) is a severe X-linked recessive genetic disorder characterized by progressive muscle degeneration and weakness due to...

Dyskeratosis Congenita

Also known as: Zinsser-Cole-Engman Syndrome, DC

Dyskeratosis Congenita (DC) is a rare, inherited bone marrow failure syndrome characterized by the triad of abnormal skin pigmentation, nail dystrophy...

1 in 1,000,000 25 trials

Hematologist, Geneticist

1 in 10,000 births 15 trials

Ectodermal Dysplasia

Also known as: ED, Hypohidrotic Ectodermal Dysplasia (HED)

Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by abnormal development of ectodermal structures, including the skin, hair,...

Geneticist, Dermatologist

1 in 5,000 (all types combined) 42 trials

Ehlers-Danlos Syndrome

Also known as: EDS, Ehlers-Danlos Syndromes

Ehlers-Danlos syndromes are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, or processing of co...

Geneticist, Rheumatologist

Approximately 1 in 20,000 live births 150 trials

Epidermolysis Bullosa

Also known as: EB, Bullous Dermatosis

Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders characterized by extreme skin fragility and blistering. Blisters and skin erosion...

Dermatologist, Geneticist

1 in 75,000 to 1 in 200,000 5 trials

Erythropoietic Protoporphyria

Also known as: EPP, Protoporphyria

Erythropoietic protoporphyria (EPP) is a rare genetic metabolic disorder characterized by abnormal accumulation of protoporphyrin in erythrocytes (red...

Dermatologist, Gastroenterologist

1 in 40,000 to 1 in 117,000 50 trials

Fabry Disease

Also known as: Alpha-galactosidase A deficiency, GLA deficiency

Fabry disease is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This deficiency le...

Nephrologist, Cardiologist

Neurologist, Cardiologist

Familial Amyloid Polyneuropathy

Also known as: FAP, Transthyretin Amyloidosis

Familial Amyloid Polyneuropathy (FAP) is a rare, progressive, and inherited disorder caused by mutations in the transthyretin (TTR) gene. These mutati...

1 in 100,000 50 trials

1 in 200 to 1 in 1,000 in at-risk populations 15 trials

Familial Mediterranean Fever

Also known as: FMF, Periodic Fever Syndrome, Autosomal Recessive

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent, short episodes of fever accompanied by inflam...

Rheumatologist, Gastroenterologist

1 in 100,000 births 50 trials

Fanconi Anemia

Also known as: FA, Familial Pancytopenia

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, physical abnormalities, and an increased risk of certain cancers....

1 specialist

Clinical Geneticist, Orthopedic Surgeon

Fibrodysplasia Ossificans Progressiva

Also known as: FOP, Myositis Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder characterized by the abnormal development of bone in areas of the bo...

1 in 1,000,000 15 trials

Approximately 7 per million people 50 trials

Focal Segmental Glomerulosclerosis (FSGS)

Also known as: FSGS, Focal Sclerosis

Focal Segmental Glomerulosclerosis (FSGS) is a pathological lesion of the kidney characterized by sclerosis (scarring) of some glomeruli and in only s...

Nephrologist, Pediatric Nephrologist

Approximately 1 in 4,000 males and 1 in 8,000 females 50 trials

Fragile X Syndrome

Also known as: FXS, Martin-Bell Syndrome

Fragile X syndrome (FXS) is a genetic disorder and the most common known single-gene cause of autism spectrum disorder and intellectual disability. It...

Clinical Geneticist, Pediatric Neurologist

1 in 40,000 to 1 in 50,000 50 trials

Friedreich's Ataxia

Also known as: FRDA, Spinocerebellar Degeneration with Cardiomyopathy

Friedreich's ataxia (FRDA) is a rare, inherited neurodegenerative disease that causes progressive damage to the nervous system, resulting in symptoms ...

Neurologist, Cardiologist

1 in 30,000 to 60,000 newborns 5 trials

Galactosemia

Also known as: GALT Deficiency, Classic Galactosemia

Galactosemia is a rare inherited metabolic disorder that affects an individual's ability to metabolize galactose, a sugar found in milk and other dair...

Metabolic Geneticist, Pediatrician

1 in 10,000 to 1 in 30,000 live births 25 trials

Gardner Syndrome

Also known as: Familial Colorectal Polyposis with Extracolonic Manifestations, APC-Associated Polyposis Conditions

Gardner syndrome is a rare genetic disorder characterized by the presence of multiple colorectal polyps (adenomas), various types of benign and malign...

Gastroenterologist, Geneticist

1 in 40,000 to 60,000 (1 in 450 Ashkenazi Jewish) 52 trials

Gaucher Disease

Also known as: Gaucher's Disease, Glucocerebrosidase Deficiency

Gaucher disease is an inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to accumulation of fatty substa...

Hematologist, Geneticist

40-240 per 100,000 individuals over 50 years old 50 trials

Giant Cell Arteritis

Also known as: Temporal Arteritis, Horton's Arteritis

Giant cell arteritis (GCA) is a chronic inflammatory disease of large and medium-sized arteries, predominantly affecting branches of the aortic arch, ...

Rheumatologist, Ophthalmologist

1 in 100,000 newborns 5 trials

Glutaric Acidemia Type 1

Also known as: GA1, Glutaric Aciduria Type I

Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder in which the body is unable to properly process certain amino acids, particularl...

Metabolic Geneticist, Neurologist

Approximately 1 in 20,000 to 40,000 live births 35 trials

Glycogen Storage Disease

Also known as: GSD, Glycogenosis

Glycogen storage disease (GSD) is a group of inherited metabolic disorders caused by defects in enzymes that regulate the synthesis or breakdown of gl...

Metabolic Geneticist, Pediatric Gastroenterologist

Estimated at 1 in 1,000,000 5 trials

Goodpasture Syndrome

Also known as: Anti-GBM Disease, Goodpasture's Disease

Goodpasture syndrome is a rare autoimmune disorder characterized by the presence of circulating antibodies that attack the glomerular basement membran...

Nephrologist, Pulmonologist

1 in 31,000 to 1 in 164,000 live births 30 trials

Gorlin Syndrome

Also known as: Nevoid Basal Cell Carcinoma Syndrome (NBCCS), Basal Cell Nevus Syndrome (BCNS)

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder characterized by a combination of developmenta...

Clinical Geneticist, Dermatologist

Estimated 3 cases per 100,000 people 50 trials

Granulomatosis with Polyangiitis (GPA)

Also known as: GPA, Wegener's Granulomatosis

Granulomatosis with Polyangiitis (GPA) is a rare autoimmune disease characterized by inflammation of blood vessels (vasculitis) in the nose, sinuses, ...

Rheumatologist, Nephrologist

1-4 per 100,000 150 trials

Guillain-Barré Syndrome

Also known as: Acute inflammatory demyelinating polyneuropathy (AIDP), Acute motor axonal neuropathy (AMAN)

Guillain-Barré Syndrome (GBS) is a rare autoimmune disorder in which the body's immune system attacks the peripheral nerves. This leads to muscle weak...

Neurologist, Intensivist

Approximately 1 in 5,000 males for Hemophilia A; 1 in 30,000 males for Hemophilia B 150 trials

Hemophilia

Also known as: Haemophilia, Classic Hemophilia

Hemophilia is a rare, inherited bleeding disorder in which the blood does not clot normally. This is due to a deficiency or absence of certain clottin...

Hematologist, Pediatric Hematologist

🔬 Other

Henoch-Schönlein Purpura

Also known as: IgA Vasculitis, Anaphylactoid Purpura

Henoch-Schönlein Purpura (HSP), also known as IgA vasculitis, is a systemic small vessel vasculitis characterized by deposition of IgA-containing immu...

3-26.7 per 100,000 children 25 trials

Pediatric Rheumatologist, Nephrologist

Allergist/Immunologist, Hematologist

Hereditary Angioedema

Also known as: HAE, C1 Inhibitor Deficiency

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema). The swelling most commonly...

1 in 50,000 50 trials

1 in 200 to 1 in 400 individuals of Northern European descent 30 trials

Hereditary Hemochromatosis

Also known as: HFE-related hemochromatosis, Primary hemochromatosis

Hereditary hemochromatosis is a genetic disorder characterized by excessive iron absorption from the diet, leading to iron accumulation in the body's ...

Gastroenterologist, Hepatologist

Hereditary Spastic Paraplegia

Also known as: HSP, Familial Spastic Paraplegia

Hereditary Spastic Paraplegia (HSP) is a group of inherited neurological disorders characterized by progressive weakness and stiffness (spasticity) of...

1-9 / 100,000 25 trials

1 in 5,000 live births 30 trials

Hirschsprung's Disease

Also known as: Congenital Aganglionic Megacolon, HSCR

Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal colon, leading to chronic constipation an...

Pediatric Surgeon, Gastroenterologist

🎗️ Oncological Active Research

Histiocytosis

Also known as: Langerhans Cell Histiocytosis (LCH), Non-Langerhans Cell Histiocytosis (Non-LCH)

Histiocytosis refers to a group of rare disorders characterized by the abnormal accumulation of histiocytes (a type of immune cell) in various tissues...

Estimated 1-9 / 1,000,000 50 trials

Hematologist, Oncologist

1 in 200,000 to 1 in 300,000 live births 15 trials

Homocystinuria

Also known as: Classical Homocystinuria, HCU

Homocystinuria is a rare, inherited metabolic disorder caused by a deficiency of cystathionine beta-synthase (CBS), an enzyme essential for processing...

Metabolic Geneticist, Ophthalmologist

3 to 7 per 100,000 in Western populations 89 trials

Huntington's Disease

Also known as: Huntington's Chorea, HD

Huntington's disease is a progressive neurodegenerative disorder caused by an inherited defect in a single gene. It causes the progressive breakdown o...

Approximately 1 in 500 births 50 trials

Hydrocephalus

Also known as: Water on the brain, Increased intracranial pressure

Hydrocephalus is a condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) within the ventricles of the brain. This excess fl...

Neurosurgeon, Neurologist

Immunologist, Hematologist

Hyper IgM Syndrome

Also known as: HIGM, CD40 Ligand Deficiency

Hyper IgM syndrome is a group of rare genetic disorders characterized by a defect in the immune system, specifically affecting the ability of B cells ...

1 in 1,000,000 15 trials

1 in 100,000 live births (severe forms); carrier frequency estimated at 1 in 300 in European populations 15 trials

Hypophosphatasia

Also known as: HPP, Rathbun's disease

Hypophosphatasia (HPP) is a rare genetic metabolic disorder characterized by defective bone mineralization. This defect results from a deficiency of t...

Endocrinologist, Geneticist

Approximately 1 in 250 people are affected by some form of ichthyosis. Severe forms are rarer. 50 trials

Ichthyosis

Also known as: Fish Scale Disease, Xeroderma

Ichthyosis is a group of genetic skin disorders characterized by dry, thickened, scaling skin. The severity and type of scaling can vary widely depend...

Dermatologist, Geneticist

🌬️ Respiratory Active Research

Idiopathic Pulmonary Fibrosis

Also known as: IPF, Cryptogenic Fibrosing Alveolitis

Idiopathic Pulmonary Fibrosis (IPF) is a chronic, progressive, and ultimately fatal disease characterized by the scarring (fibrosis) of the lung tissu...

2-29 per 100,000 worldwide 350 trials

Pulmonologist, Rheumatologist

5-10 per 100,000 adults; 1-5 per 100,000 children 150 trials

Immune Thrombocytopenic Purpura (ITP)

Also known as: Idiopathic Thrombocytopenic Purpura, Autoimmune Thrombocytopenic Purpura

Immune Thrombocytopenic Purpura (ITP) is an autoimmune disorder characterized by a low platelet count (thrombocytopenia) due to the immune system atta...

Hematologist, Immunologist

1-9 / 1,000,000 25 trials

Inclusion Body Myositis

Also known as: IBM, Sporadic Inclusion Body Myositis (sIBM)

Inclusion Body Myositis (IBM) is a rare, acquired muscle disease characterized by progressive muscle weakness and wasting, predominantly affecting the...

Neurologist, Rheumatologist

1 in 80,000 to 100,000 live births 15 trials

Joubert Syndrome

Also known as: JS, Joubert Syndrome and Related Disorders (JSRD)

Joubert syndrome (JS) is a rare genetic disorder characterized by the malformation of the brainstem and cerebellum, specifically the 'molar tooth sign...

1 in 32,000 births 15 trials

Kabuki Syndrome

Also known as: Kabuki Make-up Syndrome, Niikawa-Kuroki Syndrome

Kabuki syndrome is a rare, multisystem disorder characterized by distinctive facial features (arched eyebrows, long palpebral fissures with eversion o...

1 in 20,000 to 1 in 40,000 live births 20 trials

Kartagener Syndrome

Also known as: Primary Ciliary Dyskinesia with Situs Inversus, PCD with Situs Inversus

Kartagener syndrome is a rare genetic disorder characterized by the triad of situs inversus (reversal of the internal organs), chronic sinusitis, and ...

Pulmonologist, Otolaryngologist (ENT specialist)

Neurologist, Ophthalmologist

Kearns-Sayre Syndrome

Also known as: KSS, Ophthalmoplegia-plus syndrome

Kearns-Sayre Syndrome (KSS) is a rare mitochondrial disorder characterized by progressive external ophthalmoplegia (PEO), pigmentary retinopathy, and ...

1-9 / 100,000 5 trials

1 in 500 to 1 in 1,000 newborn males 30 trials

Klinefelter Syndrome

Also known as: 47,XXY Syndrome, XXY Syndrome

Klinefelter syndrome is a genetic condition that results when a male is born with an extra copy of the X chromosome. Instead of the typical XY chromos...

Endocrinologist, Geneticist

Vascular Surgeon, Dermatologist

Klippel-Trenaunay Syndrome

Also known as: KTS, Angio-osteohypertrophy syndrome

Klippel-Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by the triad of port-wine stain (capillary malformation), varico...

1 in 100,000 15 trials

Approximately 1 in 100,000 births 15 trials

Krabbe Disease

Also known as: Globoid Cell Leukodystrophy, Galactosylceramidase Deficiency

Krabbe disease is a rare, inherited lysosomal storage disorder that affects the nervous system. It results from a deficiency of the enzyme galactosylc...

1 in 5,000 to 10,000 45 trials

Marfan Syndrome

Also known as: Marfan's Syndrome, MFS

Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support and structure to organs and tissues throughout...

Cardiologist, Cardiothoracic Surgeon

Pantothenate Kinase-Associated Neurodegeneration

Also known as: PKAN, Hallervorden-Spatz Syndrome

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder characterized by progressive movement difficulties,...

1-9 / 1,000,000 5 trials

🩸 Hematological Active Research

Sickle Cell Disease

Also known as: SCD, Sickle Cell Anemia

Sickle cell disease is a group of inherited red blood cell disorders in which red blood cells become hard and sticky and look like a C-shaped farm too...

1 in 365 African American births; 1 in 16,300 Hispanic American births 187 trials

Hematologist, Pediatric Hematologist

❤️ Cardiovascular Active Research

Tetralogy of Fallot

Also known as: TOF, Fallot's Tetralogy

Tetralogy of Fallot is a congenital heart defect that consists of four structural abnormalities: a ventricular septal defect, pulmonary stenosis, righ...

3 to 6 per 10,000 live births 38 trials

1 specialist