ODCs

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Gastrointestinal stromal tumor

1 OMIM reference -
5 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

1 associated gene
21 signs/symptoms

Gastrointestinal stromal tumor

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

KIT	(UniProt - OMIM)	PTEN	(UniProt - OMIM)
PDGFRA	(UniProt - OMIM)
SDHA	(UniProt - OMIM)
SDHB	(UniProt - OMIM)
SDHC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFRA	(0.63)	PTEN

Citations in the biomedical literature:

Gastrointestinal stromal tumor		Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	Synonym(s): - GIST		Synonym(s): - SOLAMEN syndrome

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: D046152		External references: No OMIM references No MeSH references

Gastrointestinal stromal tumor		Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	Very frequent - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Sarcoma Frequent - Asthenia / fatigue / weakness - Constipation - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intestinal obstruction / ileus - Intestinal perforation - Nausea / vomiting / regurgitation / merycism / hyperemesis Occasional - Anaemia - Colon neoplasm / tumor / carcinoma / cancer - Cutaneous rash - Digestive neoplasm / tumor / carcinoma / cancer - Esophageal neoplasm / tumor / carcinoma / cancer - Hepatitis / icterus / cholestasis - Irregular / in bands / reticular skin hyperpigmentation - Rectum / rectal neoplasm / tumor / carcinoma / cancer - Small bowel neoplasm / tumor / carcinoma / cancer		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Follicular / erythematous / edematous papules / milium - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lymphangioma / lymphatic malformations - Rippled skin - Subcutaneous nodules / lipomas / tumefaction / swelling - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Varices / varicous veins / venous insufficiency Frequent - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Breast neoplasm / tumor / carcinoma / cancer - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mutiple fractures / bone fragility - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Talipes-varus / metatarsal varus - Thyroid neoplasm / tumor / carcinoma / cancer - Visceral angiomatosis (excluding skin)