Gist-Plus Syndrome (GISTPS)

Alias:
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal
Gastrointestinal Stromal Tumor/gist-Plus Syndrome, Somatic or Familial
Gistps
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal, Formerly
Gastrointestinal Stromal Tumor/gist-Plus Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gist-Plus Syndrome, also known as polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, is related to gastrointestinal stromal tumor and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Gist-Plus Syndrome is PDGFRA (Platelet Derived Growth Factor Receptor Alpha). Affiliated tissues include skin, and related phenotypes are intestinal polyposis and gastrointestinal stroma tumor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
34
11

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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