All Rare Diseases

Giant Cell Tumour of Bone is a rare bone tumour that most often affects young adults. It is usually non-cancerous but ca...

Systemic lupus erythematosus (lupus) is a chronic autoimmune disease in which the immune system attacks the body's own t...

Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive system. It...

Huntington's disease is a genetic condition that causes the gradual breakdown of nerve cells in the brain. It affects mo...

Spinal muscular atrophy is a genetic condition that causes muscle weakness and wasting. It affects a protein needed for ...

Multiple Sclerosis is a chronic autoimmune disease of the central nervous system in which the immune system attacks the ...

Sickle Cell Disease is an inherited blood disorder in which red blood cells become rigid and sickle-shaped, blocking blo...

ANCA-associated Vasculitis is a group of rare autoimmune diseases characterised by inflammation of small blood vessels, ...

Sarcoidosis is a chronic inflammatory disease characterised by the formation of granulomas that can affect any organ but...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, causing fluid-filled c...

Neurofibromatosis type 1 is a genetic condition that causes tumours called neurofibromas to grow on nerves, along with s...

Duchenne muscular dystrophy is a genetic condition causing progressive muscle weakness, mainly affecting boys. It is cau...

Motor neuron disease (MND), also known as ALS, is a progressive neurodegenerative condition that destroys the nerve cell...

Neuromyelitis Optica Spectrum Disorder is a rare autoimmune disease of the central nervous system that primarily attacks...

Cushing's Syndrome is a complex hormonal condition caused by prolonged exposure to high levels of cortisol, most commonl...

Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease in which scar tissue builds up in the lungs, making br...

Alopecia areata is an autoimmune condition that causes unpredictable hair loss, ranging from small patches to complete l...

Immune Thrombocytopenia is an autoimmune disorder in which the immune system destroys platelets, causing low platelet co...

Fabry disease is a rare genetic condition where a missing enzyme causes a fatty substance to build up in blood vessel wa...

Tuberous sclerosis complex is a genetic condition that causes non-cancerous tumours to grow in the brain and other vital...

Myelodysplastic Syndrome encompasses a group of blood cancers in which the bone marrow produces abnormal, dysfunctional ...

Scleroderma (systemic sclerosis) is a rare autoimmune connective tissue disease characterised by fibrosis of the skin an...

Gaucher disease is a genetic condition where a fatty substance builds up in cells and organs due to a missing enzyme. It...

Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vesse...

Guillain-Barré Syndrome is a rare neurological disorder in which the immune system mistakenly attacks the peripheral ner...

Mitochondrial Disease refers to a group of genetic disorders caused by mutations in mitochondrial or nuclear DNA that im...

Spinocerebellar Ataxia refers to a group of inherited progressive neurological disorders characterised by degeneration o...

Amyloidosis is a group of conditions where abnormal proteins called amyloid fibres build up in organs, causing progressi...

Eosinophilic Oesophagitis is a chronic immune-mediated condition in which a type of white blood cell (eosinophil) accumu...

Epidermolysis bullosa is a group of rare genetic conditions that cause extremely fragile skin that blisters and tears ea...

Primary Biliary Cholangitis is a chronic autoimmune liver disease that slowly destroys the small bile ducts within the l...

Primary Sclerosing Cholangitis is a chronic progressive disease of the bile ducts characterised by inflammation and fibr...

Dystonia is a neurological movement disorder characterised by involuntary, sustained or repetitive muscle contractions c...

Achalasia is a rare disorder of the oesophagus that makes it difficult to swallow food and liquids. It occurs when the n...

Haemophilia is a rare inherited bleeding disorder caused by deficiency of clotting factor VIII (Haemophilia A) or factor...

Rett syndrome is a rare genetic condition that affects brain development, mainly in girls. After a period of typical ear...

Phenylketonuria is a genetic condition where the body cannot properly break down an amino acid called phenylalanine. Wit...

Congenital adrenal hyperplasia is a group of inherited conditions affecting the adrenal glands, most commonly caused by ...

Dermatomyositis is a rare autoimmune condition causing muscle inflammation and weakness, accompanied by characteristic s...

Hereditary angioedema is a rare genetic condition causing recurrent episodes of severe swelling in the skin, abdomen, an...

Ehlers-Danlos syndrome is a group of genetic conditions affecting connective tissue. It causes joints to be unusually fl...

Familial Mediterranean Fever is the most common hereditary autoinflammatory disease, caused by mutations in the MEFV gen...

Fragile X syndrome is the most common inherited cause of intellectual disability and the leading single-gene cause of au...

Pulmonary arterial hypertension is a rare, progressive condition causing high blood pressure in the arteries supplying t...

Primary ciliary dyskinesia is a rare genetic condition caused by defective cilia function, leading to chronic respirator...

Myalgic Encephalomyelitis / Chronic Fatigue Syndrome is a complex, chronic disease characterised by profound fatigue tha...

Multiple System Atrophy is a rare and fatal neurodegenerative disease that affects movement, balance, and the autonomic ...

Addison's Disease is a rare disorder in which the adrenal glands do not produce sufficient steroid hormones, particularl...

Charcot-Marie-Tooth disease is a group of inherited conditions that damage the peripheral nerves, causing progressive mu...

Polycythaemia Vera is a myeloproliferative neoplasm in which the bone marrow overproduces red blood cells, causing blood...

Idiopathic Intracranial Hypertension is a condition of raised pressure within the skull without an identifiable cause su...

Batten disease (neuronal ceroid lipofuscinosis) is a group of rare and fatal genetic neurological disorders that cause p...

Eosinophilic Granulomatosis with Polyangiitis is a rare ANCA-associated systemic vasculitis characterised by severe asth...

Acromegaly is a rare hormonal disorder caused by excess growth hormone production, usually from a benign pituitary tumou...

Narcolepsy is a chronic neurological condition caused by loss of orexin-producing neurons in the brain, causing excessiv...

Pompe disease is a rare genetic condition where glycogen builds up in cells because of a missing enzyme, causing progres...

Prader-Willi syndrome is a complex genetic condition caused by loss of function of genes on chromosome 15. It causes hyp...

Turner syndrome is a chromosomal condition affecting females, caused by a missing or partially missing X chromosome. It ...

Progressive Supranuclear Palsy is a rare brain disease that causes degeneration of cells in the brainstem and cerebral c...

Friedreich ataxia is a progressive genetic condition that damages the nervous system and heart, causing loss of coordina...

Wilson disease is a genetic condition where copper accumulates in the liver, brain, and other organs due to a faulty ATP...

Hereditary haemochromatosis is a genetic condition where the body absorbs too much iron from food, leading to iron build...

Transverse Myelitis is an inflammatory condition affecting the spinal cord that disrupts the nerve signals running throu...

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, causing progressive weakness ...

Common Variable Immunodeficiency is the most common symptomatic primary antibody deficiency, characterised by low immuno...

Von Willebrand Disease is the most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Will...

Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It cause...

Alpha-1 antitrypsin deficiency is an inherited condition where the body does not produce enough of a protective protein ...

Tenosynovial Giant Cell Tumour (TGCT) is a rare, locally aggressive tumour arising from the synovial tissue of joints, t...

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition caused by ACVR1 mutations, causing muscle...

Von Hippel-Lindau Disease is a rare hereditary condition caused by mutations in the VHL tumour suppressor gene, predispo...

Myotonic dystrophy type 1 is the most common adult-onset muscular dystrophy, causing progressive muscle weakness, myoton...

Paroxysmal Nocturnal Haemoglobinuria is a rare acquired disorder of haematopoietic stem cells caused by a somatic mutati...

Primary immunodeficiencies are a diverse group of over 450 genetic conditions that impair the immune system. Common vari...

Metachromatic leukodystrophy is a rare lysosomal storage disease caused by arylsulfatase A deficiency, causing sulfatide...

Alport syndrome is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes encoding type IV c...

Essential Thrombocythaemia is the most common myeloproliferative neoplasm, characterised by sustained elevation of plate...

Angelman syndrome is a genetic condition affecting the nervous system that causes severe intellectual disability, speech...

Limb-Girdle Muscular Dystrophy encompasses more than 30 distinct genetic subtypes of progressive muscle disease affectin...

Williams syndrome is caused by a deletion of approximately 25 genes on chromosome 7, including the elastin gene. It caus...

Osteogenesis imperfecta (brittle bone disease) is a group of genetic conditions causing fragile bones that fracture easi...

Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease that almost exclusively affects women, causing cystic ...

Usher Syndrome is the leading genetic cause of combined deafness and blindness, caused by mutations in any of several ge...

22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome, caused by a small deletion on chromosom...

Stiff Person Spectrum Disorder is a rare autoimmune neurological condition causing progressive muscle rigidity, painful ...

Myasthenia gravis is a chronic autoimmune condition in which the immune system attacks the connection between nerves and...

Pitt-Hopkins syndrome is a rare neurodevelopmental condition caused by mutations in the TCF4 gene, causing intellectual ...

Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual ...

Kabuki syndrome is a rare genetic condition caused by mutations in KMT2D or KDM6A genes, causing intellectual disability...

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by IDS enzyme deficienc...

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the IDUA enzyme, leading to...

Ataxia-telangiectasia is a rare progressive neurological condition caused by ATM gene mutations, impairing DNA repair. I...

CHARGE syndrome is caused by mutations in the CHD7 gene and affects multiple organ systems including the eyes (coloboma)...

Sanfilippo syndrome (MPS III) is a rare lysosomal storage disorder caused by enzyme deficiencies that result in heparan ...

Behcet's disease is a rare systemic vasculitis causing recurrent oral ulcers, genital ulcers, eye inflammation, and skin...

Krabbe disease is a rare lysosomal storage disorder caused by galactocerebrosidase (GALC) enzyme deficiency, causing rap...

Tay-Sachs Disease is a rare inherited lysosomal storage disorder caused by mutations in the HEXA gene, resulting in the ...

Porphyria refers to a group of rare disorders caused by enzyme deficiencies in the heme biosynthesis pathway, affecting ...

Cornelia de Lange syndrome is a rare genetic condition affecting multiple organ systems, caused by mutations in cohesin ...

Beta-thalassaemia is an inherited blood disorder caused by mutations in the HBB gene that reduce or eliminate production...

Alpha-Thalassaemia is an inherited blood disorder caused by mutations in the alpha-globin genes, resulting in reduced or...

Niemann-Pick disease type C is a rare lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes, causing prog...

Cri du Chat syndrome is caused by a deletion on the short arm of chromosome 5. It is characterised by a distinctive high...

Hyperprolinaemia is a rare metabolic disorder in which the amino acid proline accumulates in the blood due to an enzyme ...