ODCs

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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 2

Gastrointestinal stromal tumor

1 OMIM reference -
5 associated genes
18 signs/symptoms

Metachondromatosis

Gastrointestinal stromal tumor

PTPN11	(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)	PTPN11 PTPN11	(0.9) (0.65)	KIT PDGFRA

Citations in the biomedical literature:

Metachondromatosis		Gastrointestinal stromal tumor
	Synonym(s): (no synonyms)		Synonym(s): - GIST

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D046152

Metachondromatosis		Gastrointestinal stromal tumor
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		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