Tumor predisposition syndrome 1

Preferred Label : Tumor predisposition syndrome 1;

Symbol : TPDS1;

CISMeF acronym : TPDS;

Type : Phenotype, molecular basis known;

Description : This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma (155720), cutaneous melanoma (155600), malignant mesothelioma on exposure to asbestos (156240), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by Wiesner et al., 2011, Testa et al., 2011, Abdel-Rahman et al., 2011, and Popova et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BRCA1-associated protein 1 (BAP1, 603089.0001);

Neoplasia : Mesothelioma, malignant, after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type;

Prefixed ID : #614327;

Details

Origin ID

614327;

UMLS CUI

C3280492;

Automatic exact mappings (from CISMeF team)
- BAP1-related tumor predisposition syndrome [ORDO Disease]
Genes related to phenotype
- Brca1-associated protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutaneous melanoma [HPO term]
- Lung adenocarcinoma [HPO term]
- Meningioma [HPO term]
- Renal cell carcinoma [HPO term]
- Uveal melanoma [HPO term]
ORDO concept(s)
- BAP1-related tumor predisposition syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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