Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Familial atypical multiple mole melanoma syndrome
Synonyms

B-K mole syndrome

Melanoma-pancreatic cancer syndrome

Familial dysplastic nevus syndrome

FAMMM syndrome

FAMM-PC syndrome

Familial atypical mole syndrome

Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Definitions

Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.
ID

http://www.orpha.net/ORDO/Orphanet_404560
alternative_term

B-K mole syndrome

Melanoma-pancreatic cancer syndrome

Familial dysplastic nevus syndrome

FAMMM syndrome

FAMM-PC syndrome

Familial atypical mole syndrome

Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
definition

Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404560
has_age_of_onset

All ages
has_inheritance

Autosomal dominant
hasDbXref

ICD-10:C43.9

OMIM:155600

UMLS:C2314896

OMIM:606719
label

Familial atypical multiple mole melanoma syndrome
notation

ORPHA:404560
part_of

http://www.orpha.net/ORDO/Orphanet_140162

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487
prefixIRI

ORDO:Orphanet_404560
prefLabel

Familial atypical multiple mole melanoma syndrome
present_in

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_140162

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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