Details of Disease | DrugMAP

General Information of Disease (ID: DIS8PLFS)

Disease Name	Basal ganglia calcification, idiopathic, 6
Synonyms	IBGC6; XPR1 bilateral striopallidodentate calcinosis; basal ganglia calcification, idiopathic, 6; bilateral striopallidodentate calcinosis caused by mutation in XPR1; basal ganglia calcification, idiopathic, type 6
Definition	Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.
Disease Hierarchy	DISNZJTB: Bilateral striopallidodentate calcinosis DISBBY0S: Idiopathic disease DIS8PLFS: Basal ganglia calcification, idiopathic, 6
Disease Identifiers	MONDO ID MONDO_0014628 UMLS CUI C4225335 OMIM ID 616413 MedGen ID 901404

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XPR1	OTG4FVQB	Strong	Autosomal dominant	[1]
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References

1	Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.