Hereditary Atypical Mole Melanoma Syndrome

Preferred Label : Hereditary Atypical Mole Melanoma Syndrome;

NCIt synonyms : FAMM Syndrome; Familial Atypical Mole Melanoma Syndrome;

NCIt related terms : Familial atypical multiple mole melanoma (FAMMM); familial atypical multiple mole melanoma syndrome; FAMMM syndrome;

CISMeF acronym : FAMM;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome caused by mutation(s) in the CDKN2A gene. It is characterized by the presence of multiple melanocytic nevi, some of which are atypical, and a family history of melanoma. Patients are at an increased risk of developing melanoma and other malignancies, including pancreatic, breast, and lung carcinoma.;

Alternative definition : NCI-GLOSS: An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. FAMMM syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer.;

Neoplastic status : Undetermined;

Codes from synonyms : CDR0000270857; CDR0000270858;

Details

Origin ID

C27264;

UMLS CUI

C2314896;

Automatic exact mappings (from CISMeF team)
- Atypical mole [ORDO Disease]
- Familial atypical multiple mole melanoma syndrome [MedDRA LLT]
- Melanoma, cutaneous malignant, susceptibility to, 1 [OMIM Phenotype]
- dysplastic nevus syndrome [DO Concept]
- dysplastic nevus syndrome [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- FAMMM [MedDRA LLT]
- Familial atypical multiple mole melanoma syndrome [MedDRA LLT]
- Familial melanoma [ORDO Disease]
Validated automatic mappings to NTBT
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Pancreatic Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
disease_has_associated_disease
- Melanocytic Nevus [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Germline CDKN2A Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CDKN2A Gene [NCIt concept]
disease_may_have_associated_disease
- Melanoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDKN2A Gene [NCIt concept]
- CDKN2A wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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