{"orpha":59303,"name":"Neonatal ichthyosis-sclerosing cholangitis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IHSC","Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome","NISCH syndrome"],"definition":"Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59303/","orphanet_url":"https://www.orpha.net/en/disease/detail/59303","names":{"fr":{"name":"Syndrome néonatal d'ichtyose-cholangite sclérosante","synonyms":["IHSC","Syndrome NISCH","Syndrome d'ichtyose-hypotrichose-cholangite sclérosante"],"definition":"L'ichtyose néonatale - cholangite sclérosante (syndrome NISCH) est une ichtyose syndromique très rare et complexe, caractérisée par une hypotrichose du cuir chevelu, une alopécie cicatricielle, une ichtyose et une cholangite sclérosante."},"de":{"name":"Neonatale Ichthyose-sklerosierende Cholangitis-Syndrom","synonyms":["IHSC","Ichthyosis mit Hypotrichose und sklerosierender Cholangitis","NISCH-Syndrom"],"definition":"Das Neonatale Ichthyose-Sklerosierende-Cholangitis (NISCH)-Syndrom ist ein sehr seltenes, komplexes Ichthyose-Syndrom mit Hypotrichose der Kopfhaut, narbiger Alopezie, Ichthyose und sklerosierender Cholangitis."},"es":{"name":"Síndrome neonatal de ictiosis-colangitis esclerosante","synonyms":["IHSC","Síndrome NISCH","Síndrome de ictiosis-hipotricosis-colangitis esclerosante"],"definition":"La ictiosis neonatal-colangitis esclerosante (síndrome NISCH) es una ictiosis sindrómica muy rara y compleja, caracterizada por hipotricosis del cuero cabelludo, alopecia cicatricial, ictiosis y la colangitis esclerosante."},"it":{"name":"Ittiosi - ipotricosi - colangite sclerosante","synonyms":["IHSC","Sindrome NISCH"]},"nl":{"name":"Neonatale ichthyosis - scleroserende cholangitis-syndroom","synonyms":["IHSC","Ichthyosis - hypotrichose - scleroserende cholangitis-syndroom","NISCH-syndroom"],"definition":"Neonatale ichthyosis - scleroserende cholangitis (NISCH)-syndroom is een zeer zeldzaam complex ichthyosis-syndroom, gekenmerkt door hypotrichose van scalp, alopecie door littekenvorming, ichthyosis en scleroserende cholangitis."},"pt":{"name":"Síndrome de ictiose neonatal-colangite esclerosante","synonyms":["Síndrome NISCH"],"definition":"A ictiose neonatal - colangite esclerosante (síndrome NISCH) é uma síndrome muito rara de ictiose complexa caracterizada por hipotricose do couro cabeludo, alopecia cicatricial, ictiose e colangite esclerosante."},"pl":{"name":"Noworodkowy zespół rybiej łuski i stwardniającego zapalenia dróg żółciowych","synonyms":["IHSC","Zespół NISCH","Zespół rybiej łuski, hipotrichozy i stwardniającego zapalenia dróg żółciowych"]},"cs":{"name":"Syndrom zahrnující ichtyózu, hypotrichózu a sklerotizující cholangitidu","synonyms":["IHSC","NISCH syndrom"]},"uk":{"name":"Синдром неонатального іхтіозу-склерозуючого холангіту","synonyms":["Синдром іхтіозу-гіпотрихозу-склерозуючого холангіту","IHSC","Синдром NISCH"],"definition":"Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis."},"zh":{"name":"新生儿鱼鳞病-硬化性胆管炎综合征","synonyms":["鱼鳞病-毛发稀少-硬化性胆管炎综合征"]},"tr":{"name":"Yenidoğan iktiyoz-sklerozan kolanjit sendromu","synonyms":["IHSC","NISCH sendromu","İktiyoz-hipotrikoz-sklerozan kolanjit sendromu"]}},"xrefs":[{"source":"OMIM","code":"607626","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB96.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1192293625"},{"source":"MONDO","code":"0011874","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564365","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843355","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10583","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":281222,"name":"Autosomal ichthyosis syndrome with prominent hair abnormalities","classifications":[156,187]},{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":447771,"name":"Sclerosing cholangitis","classifications":[183,233]}],"children":[],"genes":[{"symbol":"CLDN1","name":"claudin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15521008[PMID]","hgnc":"2032","ensembl":"ENSG00000163347","omim":"603718","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"22030598[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22030598[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","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:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null}]}}