{"orpha":90301,"name":"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90301/","orphanet_url":"https://www.orpha.net/en/disease/detail/90301","names":{"fr":{"name":"Syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale","definition":"Ce syndrome est caractérisé par l'association d'une acanthosis nigricans, d'une résistance à l'insuline, de crampes musculaires sévères et d'une hypertrophie acrale"},"de":{"name":"Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrößerung-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation von Akanthosis nigricans, Insulinresistenz, schweren Muskelkrämpfen und Hypertrophie der Akren."},"es":{"name":"Síndrome de acantosis nigricans-resistencia a la insulina-calambres musculares-agrandamiento acral","definition":"Este síndrome se caracteriza por la asociación de acantosis nigricans, resistencia a la insulina, calambres musculares graves e hipertrofia acral."},"it":{"name":"Sindrome acanthosis nigricans-resistenza all'insulina-crampi muscolari-ingrandimento delle estremità"},"nl":{"name":"Acanthosis nigricans - insulineresistentie - spierkrampen - acrale vergroting-syndroom","definition":"Dit syndroom wordt gekarakteriseerd door de associatie van acanthosis nigricans, insulineresistentie, ernstige spierkrampen, en acrale hypertrofie."},"pt":{"name":"Síndrome de acantose nigricans-resistência à insulina-cãibras musculares-alargamento acral","definition":"Este síndrome é caracterizado pela associação de acantose nigricans, resistência à insulina, cãibras musculares graves e hipertrofia acral."},"pl":{"name":"Rogowacenie ciemne - oporność na insulinę - mrowienie mięśni - powiększenie kończyn"},"cs":{"name":"Syndrom zahrnující acanthosis nigricans, inzulinovou rezistenci, svalové křeče a akrální zvětšení"},"uk":{"name":"Синдром чорного акантозу-інсулінорезистентності-мязових судом-збільшення акрального отвору","definition":"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."},"zh":{"name":"黑棘皮病-胰岛素抵抗-肌肉痉挛-肢端肿大综合征"},"tr":{"name":"Akantosis nigrikans-insülin direnci-kas krampları-akral genişleme sendromu"}},"xrefs":[{"source":"OMIM","code":"200170","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305258","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6997748[PMID]_6587221[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-04","source":"6997748[PMID]","terms":[{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null}]}}