{"orpha":64,"name":"Alström syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64/","orphanet_url":"https://www.orpha.net/en/disease/detail/64","names":{"fr":{"name":"Syndrome d'Alström","definition":"Maladie multisystémique rare caractérisée par une dystrophie des cônes et des bâtonnets, une surdité, une obésité, une résistance à l'insuline et une hyperinsulinémie, un diabète sucré de type 2, une cardiomyopathie dilatée (CMD) et un dysfonctionnement hépatique et rénal progressif."},"de":{"name":"Alström-Syndrom","definition":"Eine seltene Multisystemerkrankung, die durch Zapfenstäbchendystrophie, Hörverlust, Adipositas, Insulinresistenz und Hyperinsulinämie, Typ-2-Diabetes mellitus, dilatative Kardiomyopathie (DCM) und progressive Leber- und Nierenfunktionsstörung gekennzeichnet ist."},"es":{"name":"Síndrome de Alström","definition":"Es un trastorno multisistémico poco frecuente caracterizado por distrofia de conos y bastones, pérdida auditiva, obesidad, resistencia a la insulina e hiperinsulinemia, diabetes mellitus tipo 2, miocardiopatía dilatada (MCD) y disfunción renal y hepática progresiva."},"it":{"name":"Sindrome di Alström","definition":"La sindrome di Alström (AS) è una malattia multisistemica rara, caratterizzata da distrofia dei coni e dei bastoncelli, sordità, obesità, insulino-resistenza ed iperinsulinemia, diabete mellito tipo 2, cardiomiopatia dilatativa (CMD) e disfunzione epatica e renale progressiva."},"nl":{"name":"Syndroom van Alström","definition":"Een zeldzame, multisystemische stoornis gekarakteriseerd door kegel-staafdystrofie, gehoorverlies, obesitas, insulineresistentie en hyperinsulinemie, type 2 diabetes mellitus, gedilateerde cardiomyopathie (DCM), en progressieve lever- en nierdisfunctie."},"pt":{"name":"Síndrome Alström"},"pl":{"name":"Zespół Alströma","definition":"Zespół Alströma (AS - Alström syndrome) to choroba wieloukładowa charakteryzująca się dystrofią czopków i pręcików, utratą słuchu, otyłością, opornością na insulinę i hiperinsulinemią, cukrzycą typu 2, kardiomiopatią rozstrzeniową (dilated cardiomiopathy – DCM; sprawdź ten termin) oraz postępującą dysfunkcją wątroby i nerek."},"cs":{"name":"Alströmův syndrom"},"uk":{"name":"Синдром Альстрема","definition":"A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction."},"zh":{"name":"Alstr÷m 综合征"},"tr":{"name":"Alström sendromu"}},"xrefs":[{"source":"OMIM","code":"203800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"325733255"},{"source":"MONDO","code":"0008763","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056769","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068783","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3087,"name":"Retinohepatoendocrinologic syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":181376,"name":"Rare diabetes mellitus type 2","classifications":[193]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"ALMS1","name":"ALMS1 centrosome and basal body associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301444[PMID]","hgnc":"428","ensembl":"ENSG00000116127","omim":"606844","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_22043170[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":950.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-26","source":"17940554[PMID_20301444[PMID]","terms":[{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000548","label":"Cone/cone-rod dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031865","label":"Abnormal liver physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004469","label":"Chronic bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025383","label":"Dorsocervical fat pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004438","label":"Hyperostosis frontalis interna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004626","label":"Lumbar scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008373","label":"Puberty and gonadal disorders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010863","label":"Receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025496","label":"Abnormal coronary artery physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025488","label":"Detrusor sphincter dyssynergia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011510","label":"Drusen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010790","label":"Hyoplasia of the Leydig cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001685","label":"Myocardial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000832","label":"Primary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012786","label":"Recurrent cystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012860","label":"Testicular fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}