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 |