CAPOK
MCID: CNC020
MIFTS: 12

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma (CAPOK)

Categories: Cancer diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

MalaCards integrated aliases for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

Name: Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 58 6
Capok 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 moroccan sibs (last curated march 2019)


Classifications:



External Ids:

OMIM 58 618373

Summaries for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

OMIM : 58 CAPOK syndrome 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). (618373)

MalaCards based summary : Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma, is also known as capok. An important gene associated with Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma is SASH1 (SAM And SH3 Domain Containing 1). Affiliated tissues include skin.

Related Diseases for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Symptoms & Phenotypes for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
palmoplantar keratoderma
squamous cell carcinoma
cutaneous ulcers
hypo- and hyperpigmented macules
reticular hypo- and hyperpigmentation of distal extremities

Head And Neck Eyes:
conjunctival telangiectasias

Skin Nails Hair Hair:
alopecia of the scalp, eyebrows, and eyelashes

Neoplasia:
squamous cell carcinoma, recurrent

Skin Nails Hair Nails:
dystrophic nails

Head And Neck Teeth:
brittle teeth (in 1 patient)
complete tooth loss in second decade of life (in 1 patient)

Endocrine Features:
multinodular goiter (in 1 patient)

Clinical features from OMIM:

618373

Drugs & Therapeutics for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Search Clinical Trials , NIH Clinical Center for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

Genetic Tests for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Anatomical Context for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

MalaCards organs/tissues related to Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

42
Skin

Publications for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Articles related to Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

# Title Authors Year
1
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. ( 25315659 )
2015

Variations for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

ClinVar genetic disease variations for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SASH1 NM_015278.5(SASH1): c.1849G> A (p.Glu617Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587781245 GRCh38 Chromosome 6, 148533885: 148533885
2 SASH1 NM_015278.5(SASH1): c.1849G> A (p.Glu617Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587781245 GRCh37 Chromosome 6, 148855021: 148855021

Expression for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Search GEO for disease gene expression data for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma.

Pathways for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

GO Terms for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

Sources for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and...

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75 UMLS via Orphanet
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