Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

Preferred Label : Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma;

Symbol : CAPOK;

CISMeF acronym : CAPOK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Capok syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sterile alpha motifs- and SH3 domain-containing protein-1 gene (SASH1, 607955.0004);

Neoplasia : Squamous cell carcinoma, recurrent;

Prefixed ID : #618373;

Details

Origin ID

618373;

UMLS CUI

C5193062;

Currated CISMeF NLP mapping
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome [ORDO Disease]
Genes related to phenotype
- Sam- and sh3 domain-containing protein 1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Multinodular goiter [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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