Rare Diseases
Diseases
Rare diseases, grouped by the body system they affect. Each page has a plain-language summary, key facts, clinical trials and any updates. You can follow each disease.
200 diseases
Neuromuscular diseases (35)
- Aicardi-Goutières syndrome (AGS) · 1 update
- Amyotrophic lateral sclerosis (ALS) · 2 updates
- Aromatic L-amino acid decarboxylase (AADC) deficiency · 1 update
- Ataxia-telangiectasia (A-T) · 2 updates
- Becker muscular dystrophy (BMD) · 1 update
- CDKL5 deficiency disorder (CDD) · 1 update
- Charcot-Marie-Tooth disease (CMT) · 2 updates
- Chronic inflammatory demyelinating polyneuropathy (CIDP) · 2 updates
- Congenital myasthenic syndromes (CMS) · 2 updates
- Creutzfeldt-Jakob disease (CJD) · 1 update
- Dravet syndrome · 2 updates
- Duchenne muscular dystrophy (DMD) · 3 updates
- Early-onset generalized torsion dystonia (DYT1) · 1 update
- Facioscapulohumeral muscular dystrophy (FSHD) · 1 update
- Friedreich ataxia · 1 update
- Guillain-Barré syndrome (GBS) · 2 updates
- Hereditary spastic paraplegia (HSP) · 1 update
- Hereditary transthyretin amyloidosis (ATTRv) · 1 update
- Huntington disease · 2 updates
- Leigh syndrome · 1 update
- Lennox-Gastaut syndrome (LGS) · 1 update
- Limb-girdle muscular dystrophy (LGMD) · 1 update
- MELAS syndrome · 1 update
- Multiple system atrophy (MSA) · 1 update
- Myasthenia gravis (MG) · 2 updates
- Myotonic dystrophy type 1 (DM1, Steinert disease) · 2 updates
- Narcolepsy type 1 · 2 updates
- Neuromyelitis optica spectrum disorder (NMOSD) · 2 updates
- Progressive supranuclear palsy (PSP) · 1 update
- Rett syndrome · 2 updates
- Spinal and bulbar muscular atrophy (Kennedy disease) · 2 updates
- Spinal muscular atrophy (SMA) · 6 updates
- Spinocerebellar ataxia type 3 (Machado-Joseph disease) · 1 update
- Thymidine kinase 2 (TK2) deficiency · 2 updates
- West syndrome (infantile spasms) · 2 updates
Inborn errors of metabolism (32)
- Acute intermittent porphyria (AIP) · 1 update
- Alkaptonuria (AKU) · 1 update
- Arginase deficiency (argininemia) · 1 update
- Argininosuccinic aciduria (ASA) · 1 update
- Biotinidase deficiency · 2 updates
- Citrullinemia type 1 · 1 update
- Classic galactosemia · 1 update
- Classic homocystinuria (CBS deficiency) · 1 update
- CPS1 deficiency (urea cycle disorder) · 1 update
- Familial chylomicronemia syndrome (FCS) · 2 updates
- Glutaric aciduria type 1 (GA1) · 1 update
- Glycogen storage disease type Ia · 2 updates
- Glycogen storage disease type III (Cori-Forbes disease) · 1 update
- Hereditary fructose intolerance (HFI) · 1 update
- Homozygous familial hypercholesterolemia (HoFH) · 2 updates
- Isovaleric acidemia · 1 update
- LCHAD deficiency (long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency) · 1 update
- Maple syrup urine disease (MSUD) · 2 updates
- McArdle disease (glycogen storage disease type V) · 1 update
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency · 1 update
- Methylmalonic acidemia (MMA) · 2 updates
- Ornithine transcarbamylase (OTC) deficiency · 1 update
- Phenylketonuria (PKU) · 2 updates
- Primary carnitine deficiency · 1 update
- Primary hyperoxaluria type 1 (PH1) · 2 updates
- Propionic acidemia · 1 update
- Smith-Lemli-Opitz syndrome (SLOS) · 1 update
- Tyrosinemia type 1 · 1 update
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency · 1 update
- Wilson disease · 2 updates
- X-linked adrenoleukodystrophy (X-ALD) · 1 update
- Zellweger spectrum disorder (ZSD) · 1 update
Lysosomal storage diseases (20)
- Acid sphingomyelinase deficiency (ASMD, Niemann-Pick disease types A/B) · 1 update
- Alpha-mannosidosis · 1 update
- CLN2 disease (neuronal ceroid lipofuscinosis type 2) · 1 update
- Fabry disease · 2 updates
- Gaucher disease · 2 updates
- GM1 gangliosidosis · 2 updates
- Hunter syndrome (MPS II) · 2 updates
- Krabbe disease (globoid cell leukodystrophy) · 1 update
- Lysosomal acid lipase deficiency (LAL-D) · 1 update
- Maroteaux-Lamy syndrome (MPS VI) · 1 update
- Metachromatic leukodystrophy (MLD) · 1 update
- Morquio A syndrome (MPS IVA) · 2 updates
- Mucopolysaccharidosis type I (MPS I; Hurler/Scheie) · 1 update
- Nephropathic cystinosis · 2 updates
- Niemann-Pick disease type C (NPC) · 2 updates
- Pompe disease (glycogen storage disease type II) · 2 updates
- Sandhoff disease · 1 update
- Sanfilippo syndrome type A (MPS IIIA) · 1 update
- Sly syndrome (MPS VII) · 1 update
- Tay-Sachs disease · 1 update
Blood and immune system diseases (35)
- Acquired aplastic anemia · 2 updates
- Atypical hemolytic uremic syndrome (aHUS) · 1 update
- Autosomal dominant hyper-IgE syndrome (Job syndrome) · 1 update
- Behçet disease · 2 updates
- Chronic granulomatous disease (CGD) · 2 updates
- Common variable immunodeficiency (CVID) · 2 updates
- Congenital factor VII deficiency · 1 update
- Cryopyrin-associated periodic syndrome (CAPS) · 1 update
- Diamond-Blackfan anemia (DBA) · 1 update
- Familial Mediterranean fever (FMF) · 2 updates
- Fanconi anemia · 1 update
- Glanzmann thrombasthenia · 1 update
- Granulomatosis with polyangiitis (GPA, Wegener's) · 2 updates
- Hemophagocytic lymphohistiocytosis (HLH) · 2 updates
- Hemophilia (A and B) · 6 updates
- Hereditary angioedema (HAE) · 4 updates
- Hereditary spherocytosis · 2 updates
- Immune thrombocytopenia (ITP) · 1 update
- Leukocyte adhesion deficiency type I (LAD-I) · 1 update
- Mevalonate kinase deficiency (MKD, hyper-IgD syndrome) · 1 update
- Paroxysmal nocturnal hemoglobinuria (PNH) · 2 updates
- Pyruvate kinase deficiency · 1 update
- Severe combined immunodeficiency (SCID) · 1 update
- Severe congenital neutropenia (SCN) · 1 update
- Sickle cell disease · 2 updates
- Systemic juvenile idiopathic arthritis (Still's disease) · 1 update
- Systemic lupus erythematosus (SLE) · 2 updates
- Systemic sclerosis (scleroderma) · 1 update
- Takayasu arteritis · 2 updates
- Thalassemia · 2 updates
- Thrombotic thrombocytopenic purpura (TTP) · 2 updates
- TNF receptor-associated periodic syndrome (TRAPS) · 1 update
- von Willebrand disease (VWD) · 1 update
- Wiskott-Aldrich syndrome · 2 updates
- X-linked agammaglobulinemia (Bruton disease) · 1 update
Lung diseases (10)
- Alpha-1 antitrypsin deficiency (AATD) · 2 updates
- Chronic thromboembolic pulmonary hypertension (CTEPH) · 2 updates
- Congenital diaphragmatic hernia (CDH) · 1 update
- Cystic fibrosis · 2 updates
- Idiopathic pulmonary fibrosis (IPF) · 1 update
- Lymphangioleiomyomatosis (LAM) · 2 updates
- Primary ciliary dyskinesia (PCD) · 2 updates
- Pulmonary alveolar proteinosis (PAP) · 2 updates
- Pulmonary arterial hypertension (PAH) · 2 updates
- Sarcoidosis · 2 updates
Heart and blood vessel diseases (5)
- Brugada syndrome · 1 update
- Bundgaard syndrome · 1 update
- Congenital long QT syndrome (LQTS) · 1 update
- Marfan syndrome · 1 update
- Vascular Ehlers-Danlos syndrome (vEDS) · 1 update
Kidney diseases (5)
- Alport syndrome · 2 updates
- Autosomal recessive polycystic kidney disease (ARPKD) · 2 updates
- Bartter syndrome · 1 update
- Congenital nephrotic syndrome, Finnish type · 1 update
- Gitelman syndrome · 1 update
Liver and digestive diseases (4)
- Alagille syndrome · 1 update
- Biliary atresia · 1 update
- Hirschsprung disease · 2 updates
- Progressive familial intrahepatic cholestasis (PFIC) · 1 update
Hormone and bone diseases (7)
- Achondroplasia · 2 updates
- Congenital adrenal hyperplasia (21-hydroxylase deficiency, CAH) · 3 updates
- Fibrodysplasia ossificans progressiva (FOP) · 2 updates
- Hypophosphatasia (HPP) · 2 updates
- Osteogenesis imperfecta (brittle bone disease) · 2 updates
- Turner syndrome · 2 updates
- X-linked hypophosphatemia (XLH) · 1 update
Eye and hearing diseases (16)
- Achromatopsia (complete color blindness) · 1 update
- Aniridia (absence of the iris from birth) · 1 update
- Choroideremia · 1 update
- Leber congenital amaurosis (LCA) · 1 update
- Leber hereditary optic neuropathy (LHON) · 1 update
- Macular telangiectasia type 2 (MacTel) · 1 update
- OTOF-related congenital hearing loss · 2 updates
- Pendred syndrome · 1 update
- Primary congenital glaucoma (raised eye pressure from birth) · 2 updates
- Retinitis pigmentosa (RP) · 2 updates
- Retinoblastoma · 1 update
- Stargardt disease · 2 updates
- Usher syndrome · 1 update
- Vogt-Koyanagi-Harada disease (VKH) · 2 updates
- Waardenburg syndrome · 1 update
- X-linked retinoschisis (XLRS) · 2 updates
Skin diseases (7)
- Autosomal recessive congenital ichthyosis (ARCI) · 1 update
- Epidermolysis bullosa (butterfly skin disease) · 2 updates
- Hypohidrotic ectodermal dysplasia (HED) · 1 update
- Incontinentia pigmenti (IP) · 1 update
- Oculocutaneous albinism (OCA) · 1 update
- Pemphigus vulgaris · 1 update
- Xeroderma pigmentosum (XP) · 1 update
Genetic syndromes and other conditions (24)
- 22q11.2 deletion syndrome (DiGeorge syndrome) · 2 updates
- Angelman syndrome · 1 update
- Apert syndrome · 1 update
- Bardet-Biedl syndrome (BBS) · 2 updates
- Beckwith-Wiedemann syndrome (BWS) · 1 update
- CHARGE syndrome · 1 update
- Cornelia de Lange syndrome (CdLS) · 1 update
- Edwards syndrome (trisomy 18) · 1 update
- Fragile X syndrome · 1 update
- Hutchinson-Gilford progeria syndrome (progeria) · 1 update
- Joubert syndrome · 1 update
- Kabuki syndrome · 1 update
- Neurofibromatosis type 1 (NF1) · 2 updates
- Neurofibromatosis type 2 (NF2) · 1 update
- Noonan syndrome · 2 updates
- Prader-Willi syndrome · 2 updates
- Silver-Russell syndrome (SRS) · 1 update
- Smith-Magenis syndrome (SMS) · 1 update
- Sotos syndrome · 1 update
- Sturge-Weber syndrome · 1 update
- Treacher Collins syndrome · 1 update
- Tuberous sclerosis complex (TSC) · 1 update
- Von Hippel-Lindau disease (VHL) · 1 update
- Williams syndrome · 1 update