ODCs

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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

Metachondromatosis

Bilateral striopallidodentate calcinosis

PTPN11	(UniProt - OMIM)		PDGFB	(UniProt - OMIM)
			PDGFRB	(UniProt - OMIM)
			SLC20A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.99)	PDGFRB

Citations in the biomedical literature:

Metachondromatosis		Bilateral striopallidodentate calcinosis
	Synonym(s): (no synonyms)		Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Metachondromatosis		Bilateral striopallidodentate calcinosis
	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 - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral calcifications - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Frequent - Corneal clouding / opacity / vascularisation - Structural anomalies of the liver and the biliary tract