familial atypical multiple mole melanoma syndrome
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary cancer syndrome |
| gptkbp:alsoKnownAs |
B-K mole syndrome
FAMMM syndrome familial atypical multiple mole melanoma |
| gptkbp:characterizedBy |
increased risk of melanoma
family history of melanoma multiple atypical moles |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
Clark et al.
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial atypical multiple mole melanoma syndrome
|
| gptkbp:ICD-10_code |
D22
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
genetic counseling
patient education regular skin examinations |
| gptkbp:mutationAssociatedWith |
gptkb:CDK4_gene
gptkb:CDKN2A_gene |
| gptkbp:OMIM |
155601
|
| gptkbp:riskFactor |
pancreatic cancer
cutaneous melanoma |
| gptkbp:symptom |
dysplastic nevi
|
| gptkbp:UMLS_CUI |
C0342417
|
| gptkbp:bfsParent |
gptkb:CDKN2A
|
| gptkbp:bfsLayer |
6
|