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GTR Home > Conditions/Phenotypes > Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

Synonyms
CAPOK SYNDROME

Summary

CAPOK syndrome (CAPOK) is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed (Courcet et al., 2015). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1, SASH1
    Summary: SAM and SH3 domain containing 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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