" /> Desmoid disease, hereditary - CISMeF





Preferred Label : Desmoid disease, hereditary;

Symbol : DESMD;

CISMeF acronym : FIF; DESMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fibromatosis, familial infiltrative; FIF;

Included titles and symbols : Desmoid tumor caused by somatic mutation;

Description : Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000).;

Inheritance : Autosomal dominant;

Prefixed ID : #135290;

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31/07/2025


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