ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Gastrointestinal stromal tumor

1 OMIM reference -
5 associated genes
18 signs/symptoms

Cherubism

Gastrointestinal stromal tumor

SH3BP2	(UniProt - OMIM)		KIT	(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)	SH3BP2	(0.72)	KIT

Citations in the biomedical literature:

Cherubism		Gastrointestinal stromal tumor
	Synonym(s): - CRBM		Synonym(s): - GIST

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: D002636		External references: 1 OMIM reference - 1 MeSH reference: D046152


COMMON SIGNS	- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia

Cherubism		Gastrointestinal stromal tumor
	Very frequent - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Enlargment of jaw / large jaw - High cheek bones Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - Tooth shape anomaly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Apnea / sleep apnea - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Visual loss / blindness / amblyopia		Very frequent - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Sarcoma Frequent - Asthenia / fatigue / weakness - Constipation - 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