Gastrointestinal stromal tumor

Preferred Label : Gastrointestinal stromal tumor;

Symbol : GIST;

CISMeF acronym : GIST;

Type : Phenotype, molecular basis known;

Description : Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum.;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Caused by mutation in the platelet-derived growth factor receptor alpha gene (PDGFRA, 173490.0001); Caused by mutation in the V-KIT Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog gene (KIT, 164920.0011);

Prefixed ID : #606764;

Details

Origin ID

606764;

UMLS CUI

C0238198;

Automatic exact mappings (from CISMeF team)
- Gastrointestinal stromal tumour, primary site [ICD-11 Category]
- intestinal cancer [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Gastrointestinal Stromal Tumor [NCIt concept]
- Gastrointestinal stroma tumor [HPO term]
- Gastrointestinal stromal sarcoma [ICD-O code]
- Gastrointestinal stromal tumor [PASCAL descriptor]
- Gastrointestinal stromal tumor [ORDO Disease]
- Gastrointestinal stromal tumor [MedDRA LLT]
- Gastrointestinal stromal tumor [HRDO Sign]
- Gastrointestinal stromal tumor (disorder) [SNOMED CT concept]
- Gastrointestinal stromal tumor, uncertain malignant potential (morphologic abnormality) [SNOMED CT concept]
- Gastrointestinal stromal tumour [ICD-11 Extension code]
- Gastrointestinal stromal tumour [MedDRA Preferred Term]
- gastrointestinal stromal tumor [DO Concept]
- gastrointestinal stromal tumor [Disease (Nov.)]
- gastrointestinal stromal tumor [Radlex concept]
- gastrointestinal stromal tumors [MeSH Descriptor]
- gastrointestinal stromal tumors [MeSH concept]
DO Cross reference
- gastrointestinal stromal tumor [DO Concept]
Genes related to phenotype
- Kit protooncogene, receptor tyrosine kinase [OMIM gene]
- Succinate dehydrogenase Complex, subunit C [OMIM gene]
- Succinate dehydrogenase complex, iron-sulfur subunit b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Dysphagia [HPO term]
- Gastrointestinal stroma tumor [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Intestinal obstruction [HPO term]
- Isolated cases [HPO term]
- Large hands [HPO term]
- Neurofibromas [HPO term]
- Sporadic [HPO term]
- Urticaria [HPO term]
ORDO concept(s)
- Gastrointestinal stromal tumor [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Gastrointestinal Stromal Tumor [NCIt concept]
- Gastrointestinal stroma tumor [HPO term]
- Gastrointestinal stromal sarcoma [ICD-O code]
- Gastrointestinal stromal tumor [MedDRA LLT]
- Gastrointestinal stromal tumor (disorder) [SNOMED CT concept]
- Gastrointestinal stromal tumor (morphologic abnormality) [SNOMED CT concept]
- Gastrointestinal stromal tumour [MedDRA Preferred Term]
- gastrointestinal stromal tumor [Radlex concept]
- gastrointestinal stromal tumor [DO Concept]
- gastrointestinal stromal tumor [Disease (Nov.)]
- gastrointestinal stromal tumors [MeSH Descriptor]
- gastrointestinal stromal tumors [MeSH concept]

Keyword's position in hierarchy(ies) :

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