{"orpha":468666,"name":"Isolated generalized anhidrosis with normal sweat glands","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468666/","orphanet_url":"https://www.orpha.net/en/disease/detail/468666","names":{"fr":{"name":"Anhidrose isolée généralisée avec glandes sudoripares normales","synonyms":["Anhidrose isolée généralisée avec glandes sudorales normales"],"definition":"Maladie dermatologique rare d'origine génétique caractérisée par une anhidrose congénitale généralisée à l'origine d'une intolérance sévère à la chaleur, due à une altération fonctionnelle de la production de sueur eccrine. La biopsie de la peau révèle une morphologie et un nombre de glandes sudoripares normaux. On n'observe pas de malformations dentaires, d'anomalies capillaires, unguéales ou d'autres anomalies cutanées ou extracutanées."},"de":{"name":"Anhidrose, generalisierte isolierte, mit normalen Schweißdrüsen","definition":"Eine seltene genetisch bedingte Hauterkrankung, die durch eine kongenitale generalisierte Anhidrose gekennzeichnet ist, die aufgrund einer funktionell gestörten ekkrinen Schweißproduktion zu einer schweren Hitzeintoleranz führt. Die Hautbiopsie zeigt eine normale Morphologie und Anzahl der Schweißdrüsen. Zahn-, Haar-, Nagel- oder andere Haut- oder extrakutane Anomalien sind nicht vorhanden."},"es":{"name":"Anhidrosis generalizada aislada con glándulas sudoríparas normales","definition":"Es una enfermedad genética de la piel poco frecuente caracterizada por una anhidrosis congénita generalizada que resulta en una intolerancia al calor grave debido a una alteración funcional de la producción de sudor ecrino. La biopsia de la piel revela una morfología y un número de glándulas sudoríparas normales. No se asocia con anomalías dentales, capilares, ungueales u otras alteraciones cutáneas o extracutáneas."},"it":{"name":"Anidrosi generalizzata isolata con ghiandole sudoripare normali","definition":"Si tratta di una malattia cutanea genetica rara, caratterizzata da anidrosi generalizzata congenita che esita in una grave intolleranza al caldo, secondaria alla compromissione funzionale della produzione di sudore eccrino. La biopsia della cute mostra ghiandole sudoripare normali per morfologia e numero. Non si associa ad anomalie dei denti, dei capelli e delle unghie o ad altre anomalie cutanee ed extracutanee."},"nl":{"name":"Geïsoleerde gegeneraliseerde anhidrose met normale zweetklieren","definition":"Een zeldzame, genetische huidaandoening, gekarakteriseerd door congenitale gegeneraliseerde anhidrose die resulteert in ernstige intolerantie voor hitte als gevolg van functioneel verstoorde eccriene zweetproductie. Biopsie van huid toont een normaal aantal zweetklieren met normale morfologie. Anomalieën van tand, haar of nagel zijn afwezig, net als andere huidanomalieën of extracutane anomalieën."},"pt":{"name":"Anidrose isolada generalizada com glândulas sudoriparas normais"},"pl":{"name":"Izolowana uogólniona anhydroza z prawidłowymi gruczołami potowymi"},"cs":{"name":"Izolovaná generalizovaná anhidróza s normálními potními žlázami"},"uk":{"name":"Ізольований генералізований ангідроз з нормальними потовими залозами","definition":"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent."},"zh":{"name":"单发的全身性无汗症伴正常汗腺","definition":"是一种罕见的遗传性皮肤病，其特征是先天性全身性无汗症，由于汗腺分泌功能受损，导致严重不耐热。皮肤活检显示汗腺的形态和数量正常。牙齿、毛发、指甲或其他皮肤或皮外异常均不存在。"},"tr":{"name":"Normal ter bezleri ile izole jeneralize anhidroz"}},"xrefs":[{"source":"OMIM","code":"106190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE01.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568836","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ITPR2","name":"inositol 1,4,5-trisphosphate receptor type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25329695[PMID]","hgnc":"6181","ensembl":"ENSG00000123104","omim":"600144","loci":["12p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"25329695[PMID]_2401610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25329695[PMID]_2401610[PMID]"}],"phenotypes":null}