ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

4 OMIM references -
3 associated genes
12 signs/symptoms

Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

Bilateral striopallidodentate calcinosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TYK2	(0.65)	PDGFRB

Citations in the biomedical literature:

Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency		Bilateral striopallidodentate calcinosis
	Synonym(s): - AR hyper-IgE syndrome due to TYK2 deficiency - AR-HIES due to TYK2 deficiency		Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification

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

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

	Epidemiological data: (no data available)		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

Bilateral striopallidodentate calcinosis
	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
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
(no data available)