" /> Cowden syndrome 1 - CISMeF





Preferred Label : Cowden syndrome 1;

Symbol : CWS1;

CISMeF acronym : BBRS; BZS; CD; CPD6; CWS1; LDD; MHAM; PHTS; RMSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cs; Multiple hamartoma syndrome; CD; MHAM; Bannayan-zonana syndrome; Macrocephaly, pseudopapilledema, and multiple hemangiomata; PHTS; Ruvalcaba-myhre-smith syndrome; Bannayan-riley-ruvalcaba syndrome; RMSS; BBRS; Macrocephaly, multiple lipomas, and hemangiomata; BZS; Pten hamartoma tumor syndrome with granular cell tumor; Riley-smith syndrome; Pten hamartoma tumor syndrome;

Included titles and symbols : Dysplastic gangliocytoma of the cerebellum; Cerebelloparenchymal disorder VI; Cerebellar granule cell hypertrophy and megalencephaly; Lhermitte-duclos disease; Proteus-like syndrome; CPD6; LDD;

Description : Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. - Genetic Heterogeneity of Cowden Syndrome Mutations in the SDHB gene (185470) on chromosome 1p36.1-p35 cause Cowden syndrome-2 (CWD2; 612359). Mutations in the SDHD gene (602690) on chromosome 11q23 cause Cowden syndrome-3 (CWD3; 615106). Hypermethylation of the promoter of the KLLN gene (612105), which shares the same transcription site as the PTEN gene on 10q23, results in Cowden syndrome-4 (CWD4; 615107). Mutations in PIK3CA (171834) on 3q26.3 cause Cowden syndrome-5 (CWD5; 615108). Mutations in AKT1 (164730) on 14q32.3 cause Cowden syndrome-6 (CWD6; 615109).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatase and tensin homolog gene (PTEN, 601728.0001);

Neoplasia : Breast cancer; Ovarian carcinoma; Cervical carcinoma; Uterine adenocarcinoma; Thyroid cancer (follicular cell); Transitional cell carcinoma of the bladder; Meningioma; Mucosal neuromas;

Prefixed ID : #158350;

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29/07/2025


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