{"orpha":461,"name":"Recessive X-linked ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RXLI","Steroid sulfatase deficiency","X-linked ichthyosis","XLI"],"definition":"A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-461/","orphanet_url":"https://www.orpha.net/en/disease/detail/461","names":{"fr":{"name":"Ichtyose récessive liée à l'X","synonyms":["Déficit en stéroïde sulfatase","Ichtyose liée à l'X","RXLI","XLI"],"definition":"Maladie rare de la peau appartenant aux troubles mendéliens de la cornification (MeDOC pour Mendelian Disorders of Cornification), caractérisée par une hyperkératose généralisée et une desquamation cutanée. La maladie est de forme plutôt légère."},"de":{"name":"Ichthyose, X-chromosomal-rezessive","synonyms":["XLI","RXLI","Steroidsulfatase-Mangel"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, die zu den Verhornungsstörungen (Mendelian Disorders of Cornification; MeDOC) gehört und durch eine generalisierte Hyperkeratose und Schuppung der Haut gekennzeichnet ist. Der Krankheitsverlauf ist eher mild."},"es":{"name":"Ictiosis recesiva ligada al cromosoma X","synonyms":["Deficiencia de esteroide sulfatasa","Ictiosis ligada al cromosoma X","RXLI","XLI"],"definition":"Es una enfermedad cutánea de origen genético y poco frecuente incluida dentro de los trastornos genéticos de la cornificación y caracterizada por una hiperqueratosis generalizada y descamación de la piel. Suele ser un proceso de escasa gravedad."},"it":{"name":"Ittiosi recessiva legata all'X","synonyms":["Deficit di solfatasi steroidea","Ittiosi legata all'X","RXLI","XLI"],"definition":"L'ittiosi recessiva legata all'X (RXLI) è una genodermatosi appartenente ai disturbi mendeliani della corneificazione (MeDOC), caratterizzati da ipercheratosi generalizzata e desquamazione cutanea."},"nl":{"name":"Recessieve X-gebonden ichthyosis","synonyms":["RXLI","Steroïdesulfatasedeficiëntie","X-gebonden ichthyosis","XLI"],"definition":"Een zeldzame genetische aandoening van huid die behoort tot de 'Mendelian Disorders of Cornification (MeDOC)' (Mendeliaanse aandoeningen van verhoorning), gekenmerkt door gegeneraliseerde hyperkeratose en afschilfering van huid. De aandoening is eerder mild."},"pt":{"name":"Ictiose ligada ao X recessiva","synonyms":["Deficiência de sulfatase de esteroides"],"definition":"Doença genética cutânea rara que pertence aos Distúrbios Mendelianos da Cornificação (MeDOC) e caracterizada por hiperqueratose generalizada e descamação da pele. A doença é muito discreta."},"pl":{"name":"Recesywna rybia łuska sprzężona z chromosomem X","synonyms":["Niedobór sulfatazy steroidowej","RXLI","Rybia łuska sprzężona z płcią","XLI"],"definition":"Rzadka genetyczna choroba skóry, należąca do zaburzeń rogowacenia dziedziczonych według praw Mendla, która charakteryzuje się uogólnioną hiperkeratozą i łuszczeniem skóry. Przebieg choroby jest raczej łagodny."},"cs":{"name":"X-vázaná recesivní ichtyóza","synonyms":["RXLI","Deficit steroid-sulfatázy","X-vázaná ichtyóza","XLI"]},"uk":{"name":"Рецесивний іхтіоз, зчеплений з Х-хромосомою","synonyms":["RXLI","Дефіцит стероїдної сульфатази","XLI","Х-зчеплений іхтіоз"],"definition":"A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild."},"zh":{"name":"X连锁隐性遗传鱼鳞病","synonyms":["类固醇硫酸酯酶缺乏症"]},"tr":{"name":"X'e bağlı resesif iktiyoz","synonyms":["XLI","RXLI","X'e bağlı iktiyoz","Steroid sülfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"308100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.1","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC20.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1466487054"},{"source":"MONDO","code":"0010622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2720163","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"STS","name":"steroid sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10583107[PMID]_10692123[PMID]","hgnc":"11425","ensembl":"ENSG00000101846","omim":"300747","loci":["Xp22.31"]},{"symbol":"FLG","name":"filaggrin","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"29054605[PMID]","hgnc":"3748","ensembl":"ENSG00000143631","omim":"135940","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.6,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":9.9,"area":"Italy","status":"Not yet validated","source":"12920363[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-13","source":"37363400[PMID]_29672931[PMID]","terms":[{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007549","label":"Desquamation of skin soon after birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null}]}}