{"orpha":1410,"name":"Uncombable hair syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pili trianguli et canaliculi"],"definition":"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1410/","orphanet_url":"https://www.orpha.net/en/disease/detail/1410","names":{"fr":{"name":"Syndrome des cheveux incoiffables","synonyms":["Pili trianguli et canaliculi"],"definition":"Le syndrome des cheveux incoiffables (SCI) ou <i>pili trianguli</i> et <i>canaliculi</i> est une dysplasie rare du cuir chevelu."},"de":{"name":"Syndrom der nicht kämmbaren Haare","synonyms":["Pili trianguli et canaliculi"],"definition":"Das Syndrom der nicht kämmbaren Haare (UHS), oder pili trianguli et canaliculi, ist eine seltene Dysplasie des Haarschaftes."},"es":{"name":"Síndrome del cabello impeinable","definition":"El síndrome del cabello impeinable (SCI) o <i>pili trianguli et canaliculi</i>, es una displasia poco frecuente del tallo piloso del cuero cabelludo."},"it":{"name":"Sindrome dei capelli non pettinabili","synonyms":["Peli triangolari e scanalati"],"definition":"La sindrome dei capelli impettinabili (UHS), o <i>pili trianguli et canaliculi</i>, è una displasia rara del fusto pilifero del cuoio capelluto."},"nl":{"name":"Onkambaar haar-syndroom","synonyms":["Pili trianguli et canaliculi"],"definition":"Onkambaar haar-syndroom (UHS), of pili trianguli et canaliculi, is een zeldzame dysplasie van haarschachten van scalp."},"pt":{"name":"Síndrome cabelo impenteável","synonyms":["Pili trianguli et canaliculi"]},"pl":{"name":"Zespół włosów niedających się uczesać","synonyms":["Włosy trójkątne i kanalikowate"]},"cs":{"name":"Syndrom neučesatelných vlasů","synonyms":["Pili trianguli et canaliculi"]},"uk":{"name":"Синдром нечесаного волосся","synonyms":["Pili trianguli et canaliculi"],"definition":"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia."},"zh":{"name":"难梳头发综合征","synonyms":["难梳头发综合征"]},"tr":{"name":"Taranamayan saç sendromu","synonyms":["Pili trianguli et canaliculi"]}},"xrefs":[{"source":"OMIM","code":"191480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617251","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617252","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"244892708"},{"source":"MONDO","code":"0008621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536939","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432347","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5404","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":719,"name":"OBSOLETE: Pili canulati","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79366,"name":"Isolated hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"PADI3","name":"peptidyl arginine deiminase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27866708[PMID]","hgnc":"18337","ensembl":"ENSG00000142619","omim":"606755","loci":["1p36.13"]},{"symbol":"TGM3","name":"transglutaminase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27866708[PMID]","hgnc":"11779","ensembl":"ENSG00000125780","omim":"600238","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["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:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Occasional (29-5%)","criteria":null}]}}