Gist-Plus Syndrome (GISTPS)

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OMIM® 57 175510 MeSH 44 D046152 MedGen 41 C1868000 C5193005

SNOMED-CT via HPO 68 128755003 263681008 35327006 420120006 49723003 more EFO 17 EFO_0010279

OMIM® : ⁵⁷ GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018). (175510) (Updated 05-Mar-2021)

MalaCards based summary : Gist-Plus Syndrome, also known as polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, is related to gastrointestinal stromal tumor. An important gene associated with Gist-Plus Syndrome is PDGFRA (Platelet Derived Growth Factor Receptor Alpha). Related phenotypes are intestinal polyposis and gastrointestinal stroma tumor

UniProtKB/Swiss-Prot : ⁷³ GIST-plus syndrome: A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation.

Clinical features from OMIM®:

175510 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Gist-Plus Syndrome

Search GEO for disease gene expression data for Gist-Plus Syndrome.