Hereditary Gastrointestinal Stromal Tumor

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).

**Synonyms:** - Familial GIST - Familial GIST Syndrome - Familial Gastrointestinal Stromal Tumor - Familial Gastrointestinal Stromal Tumor