loading...| Preferred Name |
ICHTHYOSIS, X-LINKED |
| Synonyms |
PLACENTAL STEROID SULFATASE DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/308100 |
| altLabel |
PLACENTAL STEROID SULFATASE DEFICIENCY STEROID SULFATASE DEFICIENCY SSDD STEROID SULFATASE DEFICIENCY DISEASE ICHTHYOSIS, X-LINKED, COMPLICATED XLI STS DEFICIENCY |
| cui |
C2677713 C0079588 C2720163 C2717836 |
| Gene Locus |
Xp22.32 |
| Gene Symbol |
STS ARSC1 XLI ARSC SSDD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022649 http://purl.bioontology.org/ontology/OMIM/MTHU022659 http://purl.bioontology.org/ontology/OMIM/MTHU022644 http://purl.bioontology.org/ontology/OMIM/MTHU022646 http://purl.bioontology.org/ontology/OMIM/MTHU022650 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU022648 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU022647 http://purl.bioontology.org/ontology/OMIM/MTHU022651 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
308100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ICHTHYOSIS, X-LINKED |
| Scope Statement |
Caused by mutation in the steroid sulfatase gene (STS, 300747.0001) [MOLECULAR BASIS] Symptoms improve during the summer [MISCELLANEOUS] Incidence of 1 in 6,000 males [MISCELLANEOUS] Onset soon after birth or within the first year of life [MISCELLANEOUS] Most (80 to 90%) of cases result from deletions of the STS gene [MISCELLANEOUS] A subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at Xp22.3 [MISCELLANEOUS] |
| tui |
T047 |