MELANOMA, UVEAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr:
OMIM Id: 155720
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:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Uveal melanoma is the most common primary intraocular malignancy. Canning and Hungerford (1988) found reports of 12 families with adequate documentation of the occurrence of uveal melanomas in 2 or more members. They described 2 more families, each ...
Molecular genetics OMIM Hearle et al. (2003) screened 385 patients with uveal melanomas for germline mutations in the BRCA2 (600185), p16(INK4A)/p14(ARF) (600160), and p15 (600431) genes. Their findings suggested that fewer than 2% of uveal melanoma cases could be ascribed to ...