Details of Disease | DrugMAP

General Information of Disease (ID: DISQM83V)

Disease Name	Basal ganglia calcification, idiopathic, 5
Synonyms	IBGC5; basal ganglia calcification, idiopathic, type 5; basal ganglia calcification, idiopathic, 5
Disease Hierarchy	DISNZJTB: Bilateral striopallidodentate calcinosis DISBBY0S: Idiopathic disease DISQM83V: Basal ganglia calcification, idiopathic, 5
Disease Identifiers	MONDO ID MONDO_0014204 UMLS CUI C3809645 OMIM ID 615483 MedGen ID 815975

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
PDGFB	TTQA6SX	moderate	Biomarker	[1]
PDGFB	TTQA6SX	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
PDGFB	OTMFMFC3	Strong	Autosomal dominant	[2]
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References

1	White matter involvement in a family with a novel PDGFB mutation.Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun.
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.