{"orpha":55654,"name":"Hypotrichosis simplex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary hypotrichosis simplex"],"definition":"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-55654/","orphanet_url":"https://www.orpha.net/en/disease/detail/55654","names":{"fr":{"name":"Hypotrichose simple","synonyms":["Hypotrichose héréditaire simple"],"definition":"L'hypotrichose simple (HS) ou hypotrichose simple héréditaire est caractérisée par une pilosité réduite du cuir chevelu et du corps (cheveux rares, fins et courts) en l'absence d'autres anomalies."},"de":{"name":"Hypotrichosis simplex","synonyms":["Hypotrichosis simplex, hereditäre"],"definition":"Die Hypotrichosis simplex (HS) oder die heriditäre Hypotrichosis simplex (HHS) ist gekennzeichnet durch reduzierten Haarwuchs auf der Kopfhaut und am Körper (mit spärlichen, dünnen und kurzen Haaren). Weitere Anomalien bestehen nicht."},"es":{"name":"Hipotricosis simple","synonyms":["Hipotricosis hereditaria simple"],"definition":"La hipotricosis simple (HS) o hipotricosis hereditaria simple (HHS) se caracteriza por una pilosidad reducida en el cuero cabelludo y el resto del cuerpo (con pelo escaso, fino y corto) en ausencia de otras anomalías."},"it":{"name":"Ipotricosi semplice","synonyms":["Ipotricosi semplice ereditaria"]},"nl":{"name":"Hypotrichosis simplex","synonyms":["Erfelijke hypotrichose simplex"],"definition":"Hypotrichosis simplex (HS) of hereditaire hypotrichosis simplex (HHS) wordt gekenmerkt door verminderde beharing op scalp en lichaam (met schaars dun en kort haar) in afwezigheid van andere anomalieën."},"pt":{"name":"Hipotricose simples","definition":"A hipotricose simples (HS) ou hipotricose simples hereditária (HHS) é caracterizada por pilosidade reduzida no couro cabeludo e corpo (com pêlo esparso, fino e curto), na ausência de outras anomalias."},"pl":{"name":"Hipotrichoza prosta","synonyms":["Dziedziczna hipotrichoza prosta"]},"cs":{"name":"Hypotrichosis simplex","synonyms":["Hereditární hypotrichosis simplex"]},"uk":{"name":"Простий гіпотрихоз","synonyms":["Спадковий гіпотрихоз простий"],"definition":"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies."},"zh":{"name":"单纯性少毛症","synonyms":["遗传性单纯性少毛症"]},"tr":{"name":"Hipotrikoz simpleks","synonyms":["Kalıtsal hipotrikoz simpleks"]}},"xrefs":[{"source":"OMIM","code":"278150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604379","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605389","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607903","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614237","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614238","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615059","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615885","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618275","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620177","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L65.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"16649961"},{"source":"MONDO","code":"0018914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854310","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9170","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"APCDD1","name":"APC down-regulated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20393562[PMID]","hgnc":"15718","ensembl":"ENSG00000154856","omim":"607479","loci":["18p11.22"]},{"symbol":"DSG4","name":"desmoglein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16770573[PMID]","hgnc":"21307","ensembl":"ENSG00000175065","omim":"607892","loci":["18q12.1"]},{"symbol":"LIPH","name":"lipase H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18445047[PMID]","hgnc":"18483","ensembl":"ENSG00000163898","omim":"607365","loci":["3q27.2"]},{"symbol":"LPAR6","name":"lysophosphatidic acid receptor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18461368[PMID]","hgnc":"15520","ensembl":"ENSG00000139679","omim":"609239","loci":["13q14.2"]},{"symbol":"LSS","name":"lanosterol synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30401459[PMID]","hgnc":"6708","ensembl":"ENSG00000160285","omim":"600909","loci":["21q22.3"]},{"symbol":"RPL21","name":"ribosomal protein L21","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21412954[PMID]","hgnc":"10313","ensembl":"ENSG00000122026","omim":"603636","loci":["13q12.2"]},{"symbol":"SNRPE","name":"small nuclear ribonucleoprotein polypeptide E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23246290[PMID]","hgnc":"11161","ensembl":"ENSG00000182004","omim":"128260","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":"20393562[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null}]}}