Ichthyosis, X-linked

Preferred Label : Ichthyosis, X-linked;

Symbol : XLI;

CISMeF acronym : SSDD; XLI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Steroid sulfatase deficiency; Sts deficiency; Placental steroid sulfatase deficiency; Steroid sulfatase deficiency disease; SSDD;

Included titles and symbols : Ichthyosis, X-linked, complicated;

Description : Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris (146700), which is caused by mutations in the filaggrin gene (FLG; 135940). Ichthyosis can also be observed in multiple sulfatase deficiency (272200) (Shapiro, 1977). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the steroid sulfatase gene (STS, 300747.0001);

Neoplasia : Increased risk of testicular cancer;

Laboratory abnormalities : Pregnant mothers of affected children have decreased plasma and urinary estrogen; Decreased or absent steroid sulfatase activity;

Prefixed ID : #308100;

Details

Origin ID

308100;

UMLS CUI

C0079588;

Automatic exact mappings (from CISMeF team)
- DCX wt Allele [NCIt concept]
- STS wt Allele [NCIt concept]
- ichthyosis, X-Linked, complicated [MeSH Supplementary Concept]
- ichthyosis, X-Linked, complicated [MeSH concept]
- placental steroid sulfatase deficiency [MeSH concept]
- steroid sulfatase deficiency disease [MeSH concept]
Currated CISMeF NLP mapping
- Recessive X-linked ichthyosis [ORDO Disease]
- Syndromic recessive X-linked ichthyosis [ORDO Disease]
- X linked ichthyosis [Disease (Nov.)]
- X-Linked Ichthyosis [NCIt concept]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
- ichthyosis, X-Linked [MeSH concept]
- ichthyosis, x-linked [MeSH Descriptor]
- sex-linked ichthyosis [SNOMED Notion]
DO Cross reference
- X-linked ichthyosis [DO Concept]
Genes related to phenotype
- Steroid sulfatase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Corneal opacities on slit-lamp exam [HPO term]
- Cryptorchidism [HPO term]
- Hypertrophic ichthyosis, esp scalp, ears, neck and flexures [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Neoplasm [HPO term]
- Opacification of the corneal stroma [HPO term]
- X-linked recessive inheritance [HPO term]
NCIt concept(s)
- STS Gene [NCIt concept]
- STS wt Allele [NCIt concept]
- Steryl-Sulfatase [NCIt concept]
ORDO concept(s)
- Recessive X-linked ichthyosis [ORDO Disease]
- Syndromic recessive X-linked ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X linked ichthyosis [Disease (Nov.)]
- X-Linked Ichthyosis [NCIt concept]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
- ichthyosis, X-Linked [MeSH concept]
- ichthyosis, x-linked [MeSH Descriptor]
- sex-linked ichthyosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Syndromic recessive X-linked ichthyosis (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- X linked ichthyosis [Disease (Nov.)]

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