{"orpha":281090,"name":"Syndromic recessive X-linked ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Recessive X-linked ichthyosis with extracutaneous manifestations","Syndromic RXLI"],"definition":"A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281090/","orphanet_url":"https://www.orpha.net/en/disease/detail/281090","names":{"fr":{"name":"Ichtyose liée à l'X syndromique","synonyms":["Ichtyose liée à l'X avec manifestations extra-cutanées","Ichtyose récessive liée à l'X syndromique","RXLI syndromique"],"definition":"Maladie rare de la peau, d'origine génétique, appartenant aux troubles mendéliens de la cornification (MeDOC pour Mendelian Disorders of Cornification), caractérisée par une desquamation cutanée généralement légère en association avec des manifestations extracutanées, formant ainsi un syndrome."},"de":{"name":"Ichthyose, syndromale, X-chromosomal-rezessive","synonyms":["Ichthyose, X-chromosomal-rezessive, syndromale Form","RXLI, syndromal"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, die zu den Verhornungsstörungen (Mendelian Disorders of Cornification; MeDOC) gehört und durch eine im Allgemeinen leichte Abschuppung der Haut in Verbindung mit extrakutanen Manifestationen als Teil eines Syndroms gekennzeichnet ist."},"es":{"name":"Ictiosis sindrómica recesiva ligada al cromosoma X","definition":"Es una enfermedad cutánea poco frecuente de origen genético incluida dentro de los trastornos genéticos de la cornificación y caracterizada por una descamación cutánea generalmente leve asociada a manifestaciones extracutáneas como parte de un síndrome."},"it":{"name":"Ittiosi sindromica recessiva legata all'X","synonyms":["Ittiosi sindromica recessiva legata all'X","RXLI sindromica"],"definition":"L'ittiosi sindromica recessiva legata all'X (RXLI) riguarda i casi di RXLI (si veda questo termine) associati a segni extracutanei che fanno parte di una sindrome."},"nl":{"name":"Syndromale recessieve X-gebonden ichthyosis","synonyms":["Recessieve X-gebonden ichthyosis met extracutane manifestaties","Syndromale RXLI"],"definition":"Een zeldzame genetische aandoening van huid die behoort tot de 'Mendelian Disorders of Cornification (MeDOC)' (Mendeliaanse aandoeningen van verhoorning), gekenmerkt door doorgaans milde afschilfering van huid in associatie met extracutane manifestaties als deel van een syndroom."},"pt":{"name":"Ictiose ligada ao X sindromática recessiva","synonyms":["Ictiose sindrómica, recessiva ligada ao X","RXLI sindrómica"],"definition":"Doença genética rara da pele que pertence ao grupo das Doenças Mendelianas da Cornificação (MeDOC), caracterizada por uma descamação cutânea que habitualmente é ligeira em associação com manifestações extracutâneas como parte de uma síndrome."},"pl":{"name":"Syndromiczna rybia łuska sprzężona z chromosomem X","synonyms":["Syndromiczna recesywna rybia łuska sprzężona z chromosomem X","Syndromiczna RXLI"]},"cs":{"name":"Syndromická X-vázaná ichtyóza","synonyms":["Syndromická RXLI","Syndromická recesivní X-vázaná ichtyóza"]},"uk":{"name":"Синдромний рецесивний іхтіоз, зчеплений з Х-хромосомою","synonyms":["Рецесивний Х-зчеплений іхтіоз з позашкірними проявами","Синдром RXLI"],"definition":"A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome."},"zh":{"name":"综合征性X连锁隐性遗传鱼鳞病","synonyms":["伴有皮外表现的隐性X连锁鱼鳞病"],"definition":"综合征型X连锁隐性遗传鱼鳞病（RXLI）是一种RXLI（见本术语），其皮肤外表现为综合征症状的一部分。"},"tr":{"name":"Sendromik resesif X'e bağlı iktiyoz","synonyms":["Sendrom RXLI","Ekstrakutanöz belirtiler ile seyreden X'e bağlı çekinik iktiyoz"]}},"xrefs":[{"source":"OMIM","code":"308100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"53659080"},{"source":"MONDO","code":"0017264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274085","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281210,"name":"X-linked ichthyosis syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"STS","name":"steroid sulfatase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"3165728[PMID]_10692123[PMID]_15888481[PMID]_18076704[PMID]","hgnc":"11425","ensembl":"ENSG00000101846","omim":"300747","loci":["Xp22.31"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010866","label":"Abdominal wall defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002577","label":"Abnormal stomach morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004298","label":"Abnormality of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","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:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100617","label":"Testicular seminoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}