{"orpha":91132,"name":"Ichthyosis-hypotrichosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypotrichosis-congenital ichthyosis syndrome","IFAH syndrome","IHS","Ichthyosis-follicular atrophoderma-hypotrichosis syndrome","Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"],"definition":"Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91132/","orphanet_url":"https://www.orpha.net/en/disease/detail/91132","names":{"fr":{"name":"Syndrome d'ichtyose-hypotrichose","synonyms":["IHS","Syndrome IFAH","Syndrome d'hypotrichose-ichtyose congénitale","Syndrome d'ichtyose-atrophodermie folliculaire-hypotrichose","Syndrome d'ichtyose-atrophodermie folliculaire-hypotrichose-hypohidrose"],"definition":"Le syndrome d'ichtyose-hypotrichose se caractérise par une ichtyose congénitale et un système pileux peu développé. Il a été décrit chez trois individus issus d'une famille israélo-arabe consanguine. Ce syndrome, de transmission autosomique récessive, serait lié à une mutation faux sens dans le gène <i>ST14</i>, codant la maltriptase, une nouvelle protéase de type trypsine. L'analyse d'échantillons de peau des patients suggère un rôle de cette enzyme dans la desquamation de l'épiderme."},"de":{"name":"Ichthyose-Hypotrichose-Syndrom","synonyms":["Hypotrichose - Ichthyose, kongenital","Hypotrichose-kongenitale Ichthyose-Syndrom","IFAH-Syndrom","IHS","Ichthyose-follikuläre Atrophodermie-Hypotrichose-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch kongenitale Ichthyose und Hypotrichose."},"es":{"name":"Síndrome hipotricosis e ictiosis","synonyms":["IHS","Síndrome IFAH","Síndrome de hipotricosis-ictiosis congénita","Síndrome de ictiosis-atrofodermia folicular-hipotricosis","Síndrome de ictiosis-atrofodermia folicular-hipotricosis-hipohidrosis"],"definition":"Es un síndrome caracterizado por ictiosis e hipotricosis congénita. Se ha descrito en tres miembros de una familia árabe israelí consanguínea. El síndrome se transmite como un rasgo autosómico recesivo y está causado por una mutación sin sentido en el gen <i>ST14</i>, que codifica para la proteasa matriptasa. El análisis de muestras de piel de los pacientes sugiere que esta enzima juega un papel en la descamación epidérmica."},"it":{"name":"Sindrome ittiosi-ipotricosi","synonyms":["IHS","Ipotricosi - ittiosi congenita","Sindrome IFAH","Sindrome ipotricosi-ittiosi congenita","Sindrome ittiosi-atrofoderma follicolare-ipotricosi","Sindrome ittiosi-atrofoderma follicolare-ipotricosi-ipoidrosi"]},"nl":{"name":"Ichthyosis - hypotrichose-syndroom","synonyms":["Hypotrichose - congenitale ichthyosis-syndroom","IFAH-syndroom","IHS","Ichthyosis - folliculaire atrofodermie - hypotrichose - hypohidrose-syndroom","Ichthyosis - folliculaire atrofodermie - hypotrichose-syndroom"],"definition":"Een syndroom, gekenmerkt door congenitale ichthyosis en hypotrichose. Ichthyosis - hypotrichose-syndroom werd beschreven bij drie leden van een bloedverwante Arabisch-Israëlische familie. Het syndroom wordt overgeërfd als een autosomaal recessief kenmerk, en wordt veroorzaakt door een missense mutatie in het gen <i>ST14</i>, dat codeert voor het protease genaamd matriptase. Analyse van huidstalen van patiënten doet vermoeden dat dit enzym een rol speelt in epidermale desquamatie."},"pt":{"name":"Síndrome de ictiose-hipotricose","synonyms":["Síndrome de ictiose-atrofoderma folicular-hipotricose-hipohidrose","IHS","Síndrome IFAH","Síndrome de hipotricose-ictiose congénita","Síndrome de ictiose-atrofoderma folicular-hipotricose"]},"pl":{"name":"Zespół rybiej łuski i hipotrichozy","synonyms":["IHS","Zespół hipotrichozy i rybiej łuski wrodzonej","Zespół IFAH","Zespół rybiej łuski, atrofodermii mieszkowej i hipotrichozy","Zespół rybiej łuski, atrofodermii mieszkowej, hipotrichozy i hipohydrozy"]},"cs":{"name":"Ichtyóza s hypotrichózou","synonyms":["Syndrom zahrnující hypotrichózu a vrozenou ichtyózu","IFAH syndrom","IHS","Syndrom zahrnující ichtyózu, folikulární atrofodermii a hypotrichózu","Syndrom zahrnující ichtyózu, folikulární atrofodermii, hypotrichózu a hypohidrózu"]},"uk":{"name":"Синдром іхтіозу-гіпотрихозу","synonyms":["Синдром гіпотрихозу - вродженого іхтіозу","Синдром іхтіозу-фолікулярної атрофодермії-гіпотрихозу","Синдром іхтіозу-фолікулярної атрофодермії-гіпотрихозу-гіпогідрозу","Синдром IFAH","IHS"],"definition":"Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation."},"zh":{"name":"鱼鳞病-毛发稀少综合征","synonyms":["鱼鳞病-毛囊性皮肤萎缩-毛发稀少症-少汗症综合征"]},"tr":{"name":"İktiyoz-hipotrikoz sendromu","synonyms":["IHS","IFAH sendromu","Hipotrikoz-doğumsal iktiyoz sendromu","İktiyoz-foliküler atrofoderma-hipotrikoz sendromu","İktiyoz-foliküler atrofoderma-hipotrikoz-hipohidroz sendromu"]}},"xrefs":[{"source":"OMIM","code":"602400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"637628049"},{"source":"MONDO","code":"0011218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10116","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":281222,"name":"Autosomal ichthyosis syndrome with prominent hair abnormalities","classifications":[156,187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"ST14","name":"ST14 transmembrane serine protease matriptase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17273967[PMID]","hgnc":"11344","ensembl":"ENSG00000149418","omim":"606797","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"26596219[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26596219[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null}]}}