Olmsted syndrome, X-linked

Preferred Label : Olmsted syndrome, X-linked;

Symbol : OLMSX;

CISMeF acronym : OLMSX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked; PPKMX;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0008);

Prefixed ID : #300918;

Details

Origin ID

300918;

UMLS CUI

C3806745;

Currated CISMeF NLP mapping
- X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques [DO Concept]
DO Cross reference
- X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques [DO Concept]
Genes related to phenotype
- Membrane-bound transcription factor protease, site 2 [OMIM gene]
HPO term(s)
- Alopecia totalis [HPO term]
- Blepharitis [HPO term]
- Epidermal acanthosis [HPO term]
- Hyperkeratosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Posterior blepharitis [HPO term]
- Subungual hyperkeratosis [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]

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