Melanoma, cutaneous malignant, susceptibility to, 2

Preferred Label : Melanoma, cutaneous malignant, susceptibility to, 2;

Symbol : CMM2;

CISMeF acronym : CMM2;

Type : Phenotype, molecular basis known;

Description : Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the cyclin-dependent kinase inhibitor 2A gene (CDKN2A, 600160.0001);

Neoplasia : Malignant melanoma;

Laboratory abnormalities : Frequent deletions of chromosome 9 in melanoma;

Prefixed ID : #155601;

Details

Origin ID

155601;

UMLS CUI

C1835044;

Automatic exact mappings (from CISMeF team)
- CDKN2A wt Allele [NCIt concept]
- cyclin dependent kinase inhibitor 2A [ORDO Gene]
- cyclin dependent kinase inhibitor 2A [HGNC gene]
Genes related to phenotype
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutaneous melanoma [HPO term]
ORDO concept(s)
- Familial melanoma [ORDO Disease]
See also inter- (CISMeF)
- Cutaneous Malignant Melanoma 2 [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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