MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CMM2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 155601
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012056) Cutaneous melanoma 10 / 7739
2
(HPO:0002861) Melanoma 18 / 7739
3
(OMIM) Frequent deletions of chromosome 9 in melanoma 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Molecular genetics OMIM The identification of the CDKN2A gene (600160) in melanoma cell lines by study of homozygous deletions for the 9p21 region (Kamb et al., 1994) and the identification of nonsense, missense, and frameshift mutations in those cell lines that ...
Population genetics OMIM In affected members of 3 unrelated Italian families with autosomal dominant malignant melanoma, Binni et al. (2010) identified heterozygous mutations in exon 1B of the CDKN2A gene affecting the p14(ARF) isoform (see 600160.0020 and 600160.0021). These 3 families ...