{"orpha":2297,"name":"Insulin-resistance syndrome type A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare insulin-resistance syndrome characterized by marked hyperinsulinemia, frequently associated with glucose tolerance abnormalities or diabetes, acanthosis nigricans, and hyperandrogenism in females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2297/","orphanet_url":"https://www.orpha.net/en/disease/detail/2297","names":{"fr":{"name":"Syndrome d'insulino-résistance type A","synonyms":["Syndrome de résistance à l'insuline type A"],"definition":"Syndrome rare d'insulino-résistance caractérisé par une hyperinsulinémie marquée, fréquemment associée à des anomalies de la tolérance au glucose ou au diabète, à un acanthosis nigricans et à une hyperandrogénie chez les femmes."},"de":{"name":"Insulinresistenz-Syndrom Typ A","definition":"Ein seltenes Insulinresistenzsyndrom, das durch eine ausgeprägte Hyperinsulinämie gekennzeichnet ist und häufig mit Anomalien der Glukosetoleranz oder Diabetes, Acanthosis nigricans und Hyperandrogenismus bei Frauen einhergeht."},"es":{"name":"Síndrome de resistencia a la insulina tipo A","definition":"Es un síndrome poco frecuente de resistencia a la insulina caracterizado por hiperinsulinemia marcada, frecuentemente asociada con alteraciones de la tolerancia a la glucosa o diabetes, acantosis nigricans e hiperandrogenismo en mujeres."},"it":{"name":"Sindrome da insulino-resistenza, tipo A"},"nl":{"name":"Insulineresistentiesyndroom type A","definition":"Een zeldzaam syndroom van insulineresistentie, gekenmerkt door duidelijke hyperinsulinemie, vaak geassocieerd met afwijkingen van de glucosetolerantie of diabetes, acanthosis nigricans, en hyperandrogenisme bij vrouwen."},"pt":{"name":"Síndrome resistência à insulina tipo A"},"pl":{"name":"Zespół oporności na insulinę typu A"},"cs":{"name":"Syndrom inzulinové rezistence, typ A"},"uk":{"name":"Синдром інсулінорезистентності, тип А","definition":"Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight."},"zh":{"name":"胰岛素抵抗综合征A型"},"tr":{"name":"A tipi insülin direnci sendromu"}},"xrefs":[{"source":"OMIM","code":"610549","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"343459534"},{"source":"MONDO","code":"0012520","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342336","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"INSR","name":"insulin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8288049[PMID]_20339196[PMID]","hgnc":"6091","ensembl":"ENSG00000171105","omim":"147670","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null}]}}