ODCs

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4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Bilateral striopallidodentate calcinosis

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFRB	(0.63)	IRF8

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): - MSMD due to partial IRF8 deficiency - MSMD due to partial interferon regulatory factor 8 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Bilateral striopallidodentate calcinosis		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
	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		Very frequent - Autosomal dominant inheritance - Fever / chilling - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lymphadenopathy / polyadenopathies