Details of Disease

General Information of Disease (ID: DISNZJTB)

Disease Name Bilateral striopallidodentate calcinosis
Synonyms
basal ganglia calcification, idiopathic; idiopathic basal ganglia calcification; Fahr disease; basal ganglia degeneration with calcification; Primary Familial Brain Calcification; PFBC; BSPDC; primary familial brain calcification; cerebrovascular ferrocalcinosis; basal ganglia calcification
Definition
A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.|Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISFWL8F: Hereditary dementia
DIS2IRZ8: Basal ganglia disorder
DISNZJTB: Bilateral striopallidodentate calcinosis

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
XPR1 OTG4FVQB Supportive Autosomal dominant [1]
JAM2 OTHVJJRJ Supportive Autosomal dominant [5]
MYORG OTVK4VMH Supportive Autosomal dominant [6]
PDGFB OTMFMFC3 Supportive Autosomal dominant [2]
PDGFRB OTYSNK9Q Supportive Autosomal dominant [3]
SLC20A2 OT6E2DAX Supportive Autosomal dominant [4]
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⏷ Show the Full List of 6 DOT(s)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDGFB TTQA6SX Supportive Autosomal dominant [2]
PDGFRB TTI7421 Supportive Autosomal dominant [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC20A2 DTFD4VB Supportive Autosomal dominant [4]
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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.
2 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.
3 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.
4 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.
5 Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. Brain. 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392.
6 A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain. 2019 Feb 1;142(2):e4. doi: 10.1093/brain/awy343.