Details of Disease

General Information of Disease (ID: DIS44NTG)

Disease Name Basal ganglia calcification, idiopathic, 1
Synonyms
striopallidodentate calcinosis, autosomal dominant, adult-onset; Fahr disease, familial; Fahr disease, familial, formerly; striopallidodentate calcinosis, bilateral; basal ganglia calcification, idiopathic, 3; cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset; basal ganglia calcification, idiopathic, 3, formerly; ferrocalcinosis, cerebrovascular; basal ganglia calcification, idiopathic, 1; idiopathic basal ganglia calcification 1; IBGC1; IBGC2; basal ganglia calcification, idiopathic, type 1; basal ganglia calcification, idiopathic, 2
Disease Hierarchy
DISNZJTB: Bilateral striopallidodentate calcinosis
DISBBY0S: Idiopathic disease
DIS44NTG: Basal ganglia calcification, idiopathic, 1
Disease Identifiers
MONDO ID
MONDO_0024538
MESH ID
C536275
UMLS CUI
C4551624
OMIM ID
213600
MedGen ID
1637664

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDGFB TTQA6SX Strong Biomarker [1]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC20A2 DTFD4VB Limited Biomarker [2]
SLC20A2 DTFD4VB Strong Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MIA2 OTOGTUTU Strong Genetic Variation [4]
SLC20A2 OT6E2DAX Strong Autosomal dominant [3]
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References

1 Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.
2 Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.Acta Neurol Scand. 2017 Jul;136(1):59-63. doi: 10.1111/ane.12697. Epub 2016 Oct 10.
3 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.
4 Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.J Mol Neurosci. 2013 Mar;49(3):614-7. doi: 10.1007/s12031-012-9898-y. Epub 2012 Oct 5.