Details of Disease

General Information of Disease (ID: DISB983R)

Disease Name Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Synonyms CAPOK; CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISB983R: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease Identifiers
MONDO ID
MONDO_0018657
UMLS CUI
C5681108
MedGen ID
1807813
Orphanet ID
447961
SNOMED CT ID
1230005002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SASH1 OTQA8BD4 Supportive Autosomal recessive [1]
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References

1 Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.