Tumor predisposition syndrome 3

Preferred Label : Tumor predisposition syndrome 3;

Symbol : TPDS3;

CISMeF acronym : CMM10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMM10; Melanoma, cutaneous malignant, susceptibility to, 10; GLM9; Long telomere syndrome, pot1-related; Glioma susceptibility 9;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the protection of telomeres 1 gene (POT1, 606478.0001);

Neoplasia : Cutaneous malignant melanoma; Possibly increased risk for other cancers;

Prefixed ID : #615848;

Details

Origin ID

615848;

UMLS CUI

C4014476;

Automatic exact mappings (from CISMeF team)
- POT1 wt Allele [NCIt concept]
Genes related to phenotype
- Protection of telomeres 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Melanoma [HPO term]
ORDO concept(s)
- Familial melanoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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