GISTPS
MCID: GST108
MIFTS: 22
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Gist-Plus Syndrome (GISTPS)
Categories:
Gastrointestinal diseases, Genetic diseases, Skin diseases
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MalaCards integrated aliases for Gist-Plus Syndrome:
Characteristics:HPO:31Classifications: |
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. |
Diseases related to Gist-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Gist-Plus Syndrome:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:175510 (Updated 05-Mar-2021) |
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Articles related to Gist-Plus Syndrome:(show all 11)
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ClinVar genetic disease variations for Gist-Plus Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Gist-Plus Syndrome:73
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Search
GEO
for disease gene expression data for Gist-Plus Syndrome.
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