| H00134 | |
| H number | H00134 |
| Name | X-linked ichthyosis |
| Description | X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism. |
| Category | Congenital malformation |
| Network | - |
| Gene | STS [HSA:412] [KO:K01131] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.01 ICD-10: Q80.1 MeSH: D016114 OMIM: 308100 |
| Reference | PMID:15561802 AUTHORS Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV TITLE Steroid sulfatase: molecular biology, regulation, and inhibition. JOURNAL Endocr Rev 26:171-202 (2005) DOI:10.1210/er.2004-0003 PMID:9252398 AUTHORS Alperin ES, Shapiro LJ TITLE Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. JOURNAL J Biol Chem 272:20756-63 (1997) DOI:10.1074/jbc.272.33.20756 PMID:18413370 AUTHORS Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR TITLE X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. JOURNAL J Med Genet 45:519-24 (2008) DOI:10.1136/jmg.2008.057729 |