Details of Disease | DrugMAP

General Information of Disease (ID: DIS452BK)

Disease Name	Basal ganglia calcification, idiopathic, 4
Synonyms	IBGC4; basal ganglia calcification, idiopathic, 4; basal ganglia calcification, idiopathic, type 4
Disease Hierarchy	DISNZJTB: Bilateral striopallidodentate calcinosis DISBBY0S: Idiopathic disease DIS452BK: Basal ganglia calcification, idiopathic, 4
Disease Identifiers	MONDO ID MONDO_0014004 UMLS CUI C3554321 OMIM ID 615007 MedGen ID 767235

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDGFRB	TTI7421	Limited	Biomarker	[1]
PDGFRB	TTI7421	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDGFRB	OTYSNK9Q	Strong	Autosomal dominant	[2]
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References

1	Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.J Cell Mol Med. 2015 Jan;19(1):239-48. doi: 10.1111/jcmm.12443. Epub 2014 Oct 8.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.