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GENATLAS PHENOTYPE |
last update : 13-02-2013 |
Symbol | MHAM |
Location | 10q23.31 |
Name | Cowden syndrome |
Other name(s) |
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Corresponding gene | PTEN |
Other symbol(s) | CWD,CS,CD, PHTS, CWS1 |
Main clinical features |
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Genetic determination | autosomal dominant |
Related entries | BZS, MCAUTS |
Function/system disorder | dermatology |
digestive tract/gastrointestinal | |
neoplasia | |
Type | malignancy |
Gene product |
Name | tumor suppressor gene |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|  
|  
| R173H, mostly frequent
| other
|  
| abnormal protein/loss of function
| alterations within the promoter appear to correlate with a high prevalence of breast cancer
| |
Remark(s) |
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Genotype/Phenotype correlations | the splice variants expressional profiles are distinct among CS, CS-like, and BRRS, regardless of PTEN mutation status, supporting the concept that modulation of PTEN inactivation may also occur at the transcription level influencing the specific phenotypes seen in these syndromes |