gastrointestinal stromal tumor
Findings
No curated finding names gastrointestinal stromal tumor yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Definition from the Mondo Disease Ontology (MONDO:0011719), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gastrointestinal stroma tumorHPOHP:0100723
- Very frequent (80% to 99% of cases)
- Neoplasm of the stomachHPOHP:0006753
- Very frequent (80% to 99% of cases)
- SarcomaHPOHP:0100242
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Gastrointestinal hemorrhage
Show the remaining 6
- Irregular hyperpigmentationHPOHP:0007400
- Occasional (5% to 29% of cases)
- Neoplasm of the colonHPOHP:0100273
- Occasional (5% to 29% of cases)
- Neoplasm of the gastrointestinal tractHPOHP:0007378
- Occasional (5% to 29% of cases)
- Neoplasm of the rectumHPOHP:0100743
- Occasional (5% to 29% of cases)
- Neoplasm of the small intestineHPOHP:0100833
- Occasional (5% to 29% of cases)
- Skin rashHPOHP:0000988
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KITHGNC:6342
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- PDGFRAHGNC:8803
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- SDHBHGNC:10681
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
Other names
8 names
Resolves to: gastrointestinal stromal tumor
- Also called
- gastrointestinal stromal neoplasmgastrointestinal stromal sarcomagastrointestinal stromal tumor (gist)gastrointestinal stromal tumor, familial, isolated casesgastrointestinal stromal tumor, isolated casesGastrointestinal Stromal Tumorsgastrointestinal stromal tumour (gist)GIST