{"orpha":573,"name":"Monilethrix","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Moniliform hair syndrome"],"definition":"A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-573/","orphanet_url":"https://www.orpha.net/en/disease/detail/573","names":{"fr":{"name":"Monilethrix","synonyms":["Aplasie moniliforme","Syndrome de Sabouraud"],"definition":"Le monilethrix est une génodermatose rare caractérisée par une dysplasie du cuir chevelu conduisant à une hypotrichose."},"de":{"name":"Monilethrix","synonyms":["Monilitrichie"],"definition":"Die Monilethrix ist eine seltene Genodermatose und gekennzeichnet durch eine Dysplasie des Haarschaftes mit daraus resultierende Hypotrichose."},"es":{"name":"Monilethrix","synonyms":["Síndrome del cabello moniliforme"],"definition":"Es una genodermatosis poco frecuente caracterizada por una displasia del tallo piloso que da lugar a una hipotricosis."},"it":{"name":"Monilethrix","synonyms":["Sindrome dei capelli moniliformi"],"definition":"Il monilethrix è una genodermatosi rara caratterizzata dalla displasia dei fusti piliferi che provoca ipotricosi."},"nl":{"name":"Monilethrix","synonyms":["Moniliform haarsyndroom"],"definition":"Een zeldzame genodermatose gekarakteriseerd door dysplasie van haarschachten die leidt tot hypotrichose."},"pt":{"name":"Moniletrix","definition":"A moniletrix é uma genodermatose rara, caracterizada por uma displasia do eixo do cabelo, resultando em hipotricose."},"pl":{"name":"Włosy paciorkowate","synonyms":["Zespół włosów paciorkowatych"]},"cs":{"name":"Moniletrix","synonyms":["Syndrom moniliformních vlasů"]},"uk":{"name":"Монілетрикс","synonyms":["Синдром моніліформного волосся"],"definition":"A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis."},"zh":{"name":"念珠状毛发","synonyms":["念珠状毛发综合征"]},"tr":{"name":"Moniletriks","synonyms":["Moniliform saç sendromu"]}},"xrefs":[{"source":"OMIM","code":"158000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621169","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621170","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"415074833"},{"source":"MONDO","code":"0008009","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546966","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"93","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79366,"name":"Isolated hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DSG4","name":"desmoglein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16575393[PMID]_21495994[PMID]","hgnc":"21307","ensembl":"ENSG00000175065","omim":"607892","loci":["18q12.1"]},{"symbol":"KRT81","name":"keratin 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9402962[PMID]_9665406[PMID]","hgnc":"6458","ensembl":"ENSG00000205426","omim":"602153","loci":["12q13.13"]},{"symbol":"KRT83","name":"keratin 83","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15744029[PMID]","hgnc":"6460","ensembl":"ENSG00000170523","omim":"602765","loci":["12q13.13"]},{"symbol":"KRT86","name":"keratin 86","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9241275[PMID]_22670615[PMID]","hgnc":"6463","ensembl":"ENSG00000170442","omim":"601928","loci":["12q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"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:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null}]}}