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Rare Disease Directory * Home * Diseases * Resources * Contact Us * * Sign Up * Home * Diseases * Resources * Contact Us * * Sign Up WELCOME TO RARE DISEASE DIRECTORY Your comprehensive source for information on rare diseases. * Learn More Join us in our mission to raise awareness about rare diseases. OUR DIRECTORY Explore our database of rare diseases. Digestive SystemEndocrine SystemSkin and Connective TissueRespiratory SystemNervous SystemBlood and Immune SystemSkeletal SystemRenal SystemMusculoskeletal SystemCardiovascular SystemMetabolic DisordersGenetic DisordersLiverEyeAutoimmune Disorders * ACHALASIA 77 1233 Achalasia is a rare esophageal disorder characterized by the failure of the lower esophageal sphincter (LES) to relax properly. This results in difficulty swallowing, chest pain, and regurgitation of food. * ACROMEGALY 199 1233 A hormonal disorder caused by excess growth hormone, often from a pituitary tumor, leading to enlarged body parts (hands, feet, face) and joint pain. * ADDISON’S DISEASE 198 1233 A disorder where the adrenal glands don’t produce enough hormones (cortisol and aldosterone), leading to fatigue, weight loss, and low blood pressure. * ALBINISM 190 1233 A genetic condition where there is a lack of melanin, causing very light skin, hair, and vision problems. * ALPHA-1 ANTITRYPSIN DEFICIENCY 185 1233 A genetic disorder leading to lung and liver disease due to low levels of alpha-1 antitrypsin, a protein that protects the lungs from damage. * ALS (AMYOTROPHIC LATERAL SCLEROSIS) 176 1233 A progressive neurodegenerative disease affecting motor neurons, causing muscle weakness, paralysis, and eventually death. * ANGELMAN SYNDROME 173 1233 A genetic disorder caused by issues on chromosome 15, leading to developmental delays, balance issues, seizures, and a happy demeanor. * ANTIPHOSPHOLIPID SYNDROME 159 1233 An autoimmune disorder causing blood clots in arteries and veins due to antibodies attacking phospholipids, leading to strokes, miscarriages, and deep vein thrombosis. * APERT SYNDROME 147 1233 A genetic disorder that causes premature fusion of skull bones, leading to facial abnormalities and fusion of fingers and toes (syndactyly). * ATAXIA TELANGIECTASIA 145 1233 A rare genetic disease causing degeneration of the nervous system and immune system problems, leading to poor coordination and increased cancer risk. * AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD) 187 1233 A genetic disorder causing cysts in the kidneys, leading to kidney enlargement, high blood pressure, and kidney failure. * BECKER MUSCULAR DYSTROPHY 142 1233 A genetic disorder caused by mutations in the dystrophin gene, leading to progressive muscle weakness and wasting, particularly in the legs and pelvis. * BEHÇET’S DISEASE 130 1233 An autoimmune disorder causing inflammation of blood vessels, leading to mouth sores, genital ulcers, skin lesions, and eye inflammation. * BIRT-HOGG-DUBÉ SYNDROME 128 1233 A genetic disorder that causes skin tumors, lung cysts, and kidney tumors due to mutations in the FLCN gene. * BLOOM SYNDROME 112 1233 A genetic disorder that results in small body size, sensitivity to sunlight, and a high risk of cancer due to defective DNA repair mechanisms. * BRUGADA SYNDROME 111 1233 A genetic heart condition causing abnormal electrical activity in the heart, leading to a high risk of sudden cardiac death. * CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT II) 104 1233 A metabolic disorder causing the body to improperly break down fats, leading to muscle weakness and pain after exercise. * CAT EYE SYNDROME 91 1233 A rare chromosomal disorder causing malformations of the eyes, ears, heart, and kidneys, due to a partial trisomy of chromosome 22. * CHARCOT-MARIE-TOOTH DISEASE 88 1233 A group of genetic disorders affecting peripheral nerves, leading to muscle weakness and atrophy, especially in the hands and feet. * CHÉDIAK-HIGASHI SYNDROME 85 1233 A rare immune system disorder caused by mutations in the LYST gene, leading to recurrent infections, partial albinism, and nervous system issues. * CHIARI MALFORMATION 78 1233 A structural defect in the cerebellum where it extends into the spinal canal, causing headaches, dizziness, and balance problems. * CHRONIC GRANULOMATOUS DISEASE 67 1233 An inherited immune disorder where white blood cells can’t kill certain bacteria and fungi, leading to frequent infections and granuloma formation. * CHURG-STRAUSS SYNDROME (EGPA) 56 1233 A rare autoimmune disease causing inflammation of blood vessels, leading to asthma, allergic rhinitis, and organ damage. * COFFIN-LOWRY SYNDROME 54 1233 A genetic disorder caused by mutations in the RPS6KA3 gene, leading to intellectual disabilities, delayed development, and skeletal abnormalities. * CUSHING'S SYNDROME 47 1233 A condition caused by prolonged exposure to high cortisol levels, often from a tumor, leading to weight gain, high blood pressure, and fragile skin. * CYCLIC VOMITING SYNDROME 38 1233 A disorder characterized by recurrent episodes of severe nausea and vomiting, with no apparent cause, and can be triggered by stress or certain foods. * CYSTIC FIBROSIS 35 1233 A genetic disorder affecting the lungs and digestive system, caused by a mutation in the CFTR gene, leading to thick mucus buildup and frequent lung infections. * DANDY-WALKER SYNDROME 32 1233 A congenital brain malformation affecting the cerebellum, leading to problems with movement, coordination, and fluid buildup in the brain (hydrocephalus). * DERMATOMYOSITIS 23 1233 An inflammatory disease affecting muscles and skin, causing muscle weakness and a skin rash, possibly linked to an autoimmune response. * DUCHENNE MUSCULAR DYSTROPHY 20 1233 A severe genetic disorder caused by a lack of dystrophin, leading to progressive muscle degeneration and weakness, primarily affecting boys. * EHLERS-DANLOS SYNDROME 9 1233 A group of genetic disorders affecting connective tissue, leading to hypermobile joints, stretchy skin, and a higher risk of dislocations and injuries. * EISENMENGER SYNDROME 6 1233 A condition caused by long-term congenital heart defects leading to abnormal blood flow and high blood pressure in the lungs, resulting in cyanosis. * FABRY DISEASE 1233 A genetic disorder caused by the buildup of a specific type of fat (globotriaosylceramide) in the body, leading to pain, kidney failure, and heart problems. * FAMILIAL ADENOMATOUS POLYPOSIS 1233 A genetic disorder causing numerous polyps in the colon, which if untreated, can lead to colorectal cancer. * FAMILIAL MEDITERRANEAN FEVER 1233 A genetic inflammatory disorder causing recurrent fevers and painful inflammation of the abdomen, chest, or joints. * FANCONI ANEMIA 1233 A rare genetic disorder causing bone marrow failure, leading to decreased blood cell production and an increased risk of cancer. * FETAL ALCOHOL SYNDROME 1233 A condition resulting from alcohol exposure during pregnancy, causing growth deficiencies, facial abnormalities, and intellectual disabilities. * FRAGILE X SYNDROME 1233 A genetic condition caused by a mutation in the FMR1 gene, leading to intellectual disabilities, behavioral issues, and developmental delays. * FRIEDREICH’S ATAXIA 1233 A genetic neurodegenerative disorder causing progressive damage to the nervous system, leading to poor coordination, heart disease, and diabetes. * GAUCHER DISEASE 1233 A genetic disorder where fat-laden Gaucher cells accumulate in organs, leading to organ enlargement, bone pain, and fatigue. * GIANT CELL ARTERITIS 1233 A form of vasculitis that causes inflammation of the arteries, often in the head, leading to headaches, vision loss, and jaw pain. * GITELMAN SYNDROME 1233 A genetic disorder affecting kidney function, causing electrolyte imbalances, leading to muscle cramps, fatigue, and salt cravings. * GLANZMANN’S THROMBASTHENIA 1233 A rare genetic bleeding disorder where platelets don’t function properly, leading to easy bruising, bleeding gums, and nosebleeds. * GLYCOGEN STORAGE DISEASE 1233 A group of genetic disorders where the body is unable to break down glycogen, leading to low blood sugar, muscle cramps, and liver enlargement. * GOODPASTURE SYNDROME 1233 An autoimmune disease where antibodies attack the lungs and kidneys, leading to bleeding in the lungs and kidney failure. * GUILLAIN-BARRÉ SYNDROME 1233 An autoimmune disorder where the immune system attacks the nerves, leading to muscle weakness, paralysis, and respiratory failure in severe cases. * HEMOPHILIA A & B 1233 A genetic bleeding disorder caused by a deficiency in clotting factors, leading to excessive bleeding and easy bruising. * HEREDITARY ANGIOEDEMA 1233 A genetic disorder causing recurrent episodes of severe swelling, particularly in the face, airways, and abdomen, due to a deficiency in C1-inhibitor protein. * HEREDITARY HEMORRHAGIC TELANGIECTASIA 1233 A genetic disorder affecting blood vessels, leading to abnormal blood vessel formation and frequent nosebleeds. * HIRSCHSPRUNG DISEASE 1233 A congenital condition where nerves are missing from parts of the intestine, leading to bowel obstruction, constipation, and swollen abdomen. * HUNTINGTON'S DISEASE 1233 A genetic neurodegenerative disorder that causes uncontrolled movements, emotional disturbances, and cognitive decline. * HURLER SYNDROME 1233 A rare genetic disorder where the body lacks the enzyme to break down long chains of sugar molecules, leading to skeletal deformities and organ damage. * HYPOPHOSPHATASIA 1233 A genetic disorder that affects the development of bones and teeth, leading to bone deformities, fractures, and early tooth loss. * IDIOPATHIC PULMONARY FIBROSIS 1233 A condition where lung tissue becomes scarred and stiff for unknown reasons, leading to breathing difficulties and reduced oxygen supply to the blood. * JOUBERT SYNDROME 1233 A rare genetic disorder affecting brain development, leading to coordination issues, developmental delays, and abnormal breathing patterns. * KABUKI SYNDROME 1233 A rare genetic disorder causing distinctive facial features, developmental delays, intellectual disabilities, and skeletal abnormalities, often due to mutations in the KMT2D gene. * KALLMANN SYNDROME 1233 A genetic disorder that affects the development of the hypothalamus, causing delayed or absent puberty and an impaired sense of smell. * KAWASAKI DISEASE 1233 A rare childhood illness causing inflammation of the blood vessels, leading to fever, rash, swollen glands, and in severe cases, heart complications. * KLINEFELTER SYNDROME 1233 A genetic condition where males are born with an extra X chromosome (XXY), leading to infertility, reduced testosterone, and learning difficulties. * KRABBE DISEASE 1233 A rare genetic disorder where the body can’t produce enough galactocerebrosidase, leading to severe neurological damage, developmental regression, and early death. * LARSEN SYNDROME 1233 A genetic disorder causing joint dislocations, skeletal abnormalities, and distinctive facial features, often resulting from mutations in the FLNB gene. * LEBER HEREDITARY OPTIC NEUROPATHY 1233 A mitochondrial genetic disorder leading to sudden vision loss due to the degeneration of optic nerve cells. * LENNOX-GASTAUT SYNDROME 1233 A severe form of epilepsy with multiple types of seizures, typically beginning in childhood, often caused by brain malformations or injuries. * LESCH-NYHAN SYNDROME 1233 A rare genetic disorder caused by a deficiency in the HPRT enzyme, leading to neurological dysfunction, self-injurious behavior, and gout. * LOWE SYNDROME 1233 A genetic disorder affecting the eyes, brain, and kidneys, leading to cataracts, intellectual disabilities, and kidney dysfunction, caused by mutations in the OCRL gene. * LUPUS (SYSTEMIC LUPUS ERYTHEMATOSUS) 1233 An autoimmune disease where the immune system attacks healthy tissues, leading to joint pain, skin rashes, and organ damage. * LYMPHANGIOLEIOMYOMATOSIS (LAM) 1233 A rare lung disease that affects women, causing the growth of abnormal smooth muscle cells, leading to cystic lung destruction and respiratory failure. * MAPLE SYRUP URINE DISEASE 1233 A genetic metabolic disorder where the body can’t break down certain amino acids, leading to a characteristic sweet-smelling urine and neurological damage. * MARFAN SYNDROME 1233 A genetic disorder affecting connective tissue, leading to tall stature, long limbs, heart defects, and a risk of aortic rupture. * MCARDLE DISEASE 1233 A metabolic disorder where muscles can’t break down glycogen for energy, leading to muscle cramps, weakness, and fatigue during exercise. * MENKES DISEASE 1233 A genetic disorder affecting copper levels in the body, leading to poor growth, developmental delays, and distinctive "kinky" hair. * METACHROMATIC LEUKODYSTROPHY 1233 A genetic disorder affecting the white matter of the brain, causing progressive loss of motor skills, muscle wasting, and intellectual decline. * MITOCHONDRIAL MYOPATHY 1233 A group of disorders caused by mutations in mitochondrial DNA, leading to muscle weakness, exercise intolerance, and heart or respiratory problems. * MOYAMOYA DISEASE 1233 A rare blood vessel disorder where arteries in the brain become blocked, leading to strokes, seizures, and cognitive decline. * MULTIPLE ENDOCRINE NEOPLASIA 1233 A genetic disorder that causes tumors in multiple endocrine glands, leading to hormonal imbalances, often caused by mutations in the RET gene. * MYASTHENIA GRAVIS 1233 A chronic autoimmune neuromuscular disorder that causes muscle weakness and fatigue due to the immune system attacking acetylcholine receptors. * NEUROFIBROMATOSIS TYPE 1 & 2 1233 Genetic disorders causing the growth of tumors on nerves, leading to skin abnormalities, bone deformities, and hearing loss (in type 2). * NIEMANN-PICK DISEASE 1233 A group of genetic disorders where harmful quantities of lipids accumulate in cells, leading to organ damage and neurological issues. * NOONAN SYNDROME 1233 A genetic disorder causing abnormal facial features, heart defects, and short stature, often due to mutations in the PTPN11 gene. * PATAU SYNDROME (TRISOMY 13) 1233 A genetic disorder caused by an extra chromosome 13, leading to severe intellectual disabilities, heart defects, and early death. * PHENYLKETONURIA (PKU) 1233 A genetic metabolic disorder where the body can’t break down phenylalanine, leading to intellectual disabilities if untreated. * PITT-HOPKINS SYNDROME 1233 A rare genetic disorder affecting the TCF4 gene, leading to intellectual disabilities, developmental delays, and breathing abnormalities. * POMPE DISEASE 1233 A rare genetic disorder where glycogen builds up in the body, leading to muscle weakness, respiratory problems, and heart enlargement. * PORPHYRIA 1233 A group of disorders caused by the buildup of porphyrins in the body, leading to abdominal pain, neurological issues, and sensitivity to sunlight. * PRADER-WILLI SYNDROME 1233 A genetic disorder causing insatiable hunger, obesity, intellectual disabilities, and short stature, due to missing or defective genes on chromosome 15. * PRIMARY BILIARY CIRRHOSIS 1233 A chronic autoimmune disease where the immune system attacks the bile ducts, leading to liver damage, fatigue, and jaundice. * PRIMARY SCLEROSING CHOLANGITIS 1233 A chronic liver disease causing inflammation and scarring of bile ducts, leading to liver damage and an increased risk of cancer. * PROGERIA 1233 A rare genetic disorder causing rapid aging in children, leading to premature heart disease, hair loss, and early death. * RETINITIS PIGMENTOSA 1233 A group of genetic disorders causing the breakdown of photoreceptor cells in the eyes, leading to progressive vision loss and eventual blindness. * RETT SYNDROME 1233 A rare genetic disorder affecting brain development in girls, leading to severe cognitive and physical disabilities, caused by mutations in the MECP2 gene. * SARCOIDOSIS 1233 An inflammatory disease where small clumps of immune cells (granulomas) form in various organs, most commonly the lungs, causing coughing, fatigue, and skin rashes. * SCLERODERMA 1233 An autoimmune disease causing hardening and tightening of the skin and connective tissues, leading to joint pain, heart, and lung issues. * SEVERE COMBINED IMMUNODEFICIENCY (SCID) 1233 A group of genetic disorders affecting the immune system, leaving individuals highly susceptible to infections. * SJOGREN’S SYNDROME 1233 An autoimmune disorder where the immune system attacks glands that produce moisture, leading to dry eyes, dry mouth, and joint pain. * SMITH-LEMLI-OPITZ SYNDROME 1233 A genetic disorder affecting cholesterol metabolism, leading to intellectual disabilities, growth delays, and distinctive facial features. * SPINAL MUSCULAR ATROPHY (SMA) 1233 A genetic disorder affecting motor neurons, leading to progressive muscle weakness and atrophy, caused by mutations in the SMN1 gene. * STICKLER SYNDROME 1233 A genetic disorder causing vision, hearing, and joint problems due to abnormalities in collagen production. * TAY-SACHS DISEASE 1233 A fatal genetic disorder where harmful substances accumulate in the brain, leading to progressive neurological damage, blindness, and death in early childhood. * THALASSEMIA 1233 A genetic blood disorder affecting hemoglobin production, leading to anemia, fatigue, and organ damage. * TURNER SYNDROME 1233 A genetic condition affecting females, where one of the X chromosomes is missing or partially missing, leading to short stature, infertility, and heart defects. Show all FREQUENTLY ASKED QUESTIONS Have questions? We've got answers. * What is a rare disease? A disease is rare if it affects fewer than 1 in 2000 people. Because of this scarcity, traditionally these diseases have lacked funding and treatment options. * Where can I find support? Find affiliated charities and information under our directory here. If you are interested in capitalising on your valuable data, take a look at the Rare Disease Collective. * More FAQs CONTACT US Have more questions? Get in touch with us. Full Name Email Message Submit Error. Your form has not been submitted This is what the server says: There must be an @ at the beginning. I will retry Reply Uh oh! I will retry SEARCH DISEASES Find detailed information about a specific disease. Disease Name Search Error. Your form has not been submitted This is what the server says: There must be an @ at the beginning. I will retry Reply Uh oh! 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