MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
DYSPLASTIC NEVUS SYNDROME, HEREDITARY
MELANOMA, MALIGNANT
B-K MOLE SYNDROME
MELANOMA, FAMILIAL
MELANOMA, CUTANEOUS MALIGNANT
MLM
CMM1
FAMMM
DNS
CMM
Number of Symptoms 5
OrphanetNr:
OMIM Id: 155600
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:0007716) Intraocular melanoma 5 / 7739
2
(HPO:0001054) Numerous nevi 8 / 7739
3
(HPO:0001062) Atypical nevus 3 / 7739
4
(HPO:0002861) Melanoma 18 / 7739
5
(OMIM) Atypical nevi often present in non-sun exposed areas 2 / 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). ...
Clinical Description OMIM Several writers (e.g., Moschella, 1961; Schoch, 1963; Salamon et al., 1963) commented on the usual fair complexion, blue eyes, and multiple ephelides in patients with familial melanoma.

In a questionnaire study, Kopf et al. (1986) found ...

Molecular genetics OMIM - Somatic Mutations

By examining DNA copy number in 283 known miRNA genes, Zhang et al. (2006) found a high proportion of copy number abnormalities in 227 human ovarian cancer, breast cancer, and melanoma specimens. Changes ...