CAPOK
MCID: CNC020
MIFTS: 18

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

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare 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 57 74 6
Capok 57 74
Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618373
Orphanet 59 ORPHA447961
MedGen 42 CN258269

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

OMIM : 57 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, and related phenotypes are palmoplantar keratoderma and nail dystrophy

UniProtKB/Swiss-Prot : 74 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma: An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma.

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

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

Human phenotypes related to Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 nail dystrophy 32 HP:0008404
3 squamous cell carcinoma 32 HP:0002860
4 multinodular goiter 32 HP:0005987

Symptoms via clinical synopsis from OMIM:

57
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:

41
Skin

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

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

# Title Authors PMID Year
1
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. 8 71
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 GRCh37 Pos GRCh38 Pos
1 SASH1 NM_015278.5(SASH1): c.1849G> A (p.Glu617Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587781245 6:148855021-148855021 6:148533885-148533885

Cosmic variations for Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM99602 skin,forearm,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 12

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....