{"orpha":281127,"name":"Acral self-healing collodion baby","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acral SHCB"],"definition":"A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281127/","orphanet_url":"https://www.orpha.net/en/disease/detail/281127","names":{"fr":{"name":"Bébé collodion à guérison spontanée, forme acrale","synonyms":["SHCB acral"],"definition":"Bébé collodion à guérison spontanée, forme acrale est une variante du bébé collodion à guérison spontanée (BCGS) caractérisée par la présence à la naissance d'une pellicule de collodion uniquement aux extrémités."},"de":{"name":"Selbstheilendes Kollodiumbaby, akrales","synonyms":["SHCB, akrales"]},"es":{"name":"Bebé colodión autorresolutivo acral","synonyms":["BCA acral"],"definition":"Es una variante del bebé colodión autorresolutivo (SHCB; por sus siglas en inglés), caracterizada por la presencia en el nacimiento de una membrana colodión exclusivamente en las extremidades."},"it":{"name":"Collodion baby acrale con regressione spontanea","definition":"La forma acrale del collodium baby a remissione spontanea (SHCB) è una variante della SHCB (si veda questo termine) caratterizzata dalla presenza, alla nascita, di una membrana di collodio esclusivamente a livello delle estremità."},"nl":{"name":"Acrale zelfhelende collodionbaby","synonyms":["Acrale SHCB"],"definition":"Een variant van zelfhelende collodionbaby (SHCB), gekarakteriseerd door een collodionmembraan dat bij de geboorte enkel aanwezig is aan de ledematen."},"pt":{"name":"Bébe colódio acral com regressão espontânea","synonyms":["SHCB acral"],"definition":"O bebé colódio auto-curável acral (SHCB) é uma variante de SHCB (ver este termo), caracterizada pela presença à nascença de uma membrana colódio apenas nas extremidades."},"pl":{"name":"Kończynowy samowyleczalny zespół dziecka kolodionowego","synonyms":["Kończynowy SHCB"]},"cs":{"name":"Postižení kůže aker typu collodion baby se spontánní úpravou","synonyms":["Akrální SHCB"]},"uk":{"name":"Акральний самозагоювальний колодіон немовляти","synonyms":["Acral SHCB"],"definition":"A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities."},"zh":{"name":"肢端自愈性火棉胶样儿","synonyms":["肢端型SHCB"],"definition":"一种自愈火棉胶样儿（SHCB）的变体，其特征是出生时只有有四肢有火棉胶膜。"},"tr":{"name":"Kendiliğinden iyileşen akral kolodyumlu bebek","synonyms":["Akral SHCB"]}},"xrefs":[{"source":"OMIM","code":"242300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"897773833"},{"source":"MONDO","code":"0017268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","classifications":[147,156,187,189]}],"children":[],"genes":[{"symbol":"TGM1","name":"transglutaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19500103[PMID]","hgnc":"11777","ensembl":"ENSG00000092295","omim":"190195","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19500103[PMID]_[EXPERT]"},{"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":"2019-06-24","source":"19500103[PMID]_22739337[PMID]","terms":[{"hpo":"HP:0012098","label":"Edema of the dorsum of feet","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007559","label":"Localized epidermolytic hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025524","label":"Palmoplantar scaling skin","frequency":"Very frequent (99-80%)","criteria":null}]}}