basal ganglia calcification, idiopathic, type 3

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basal ganglia calcification, idiopathic, type 3

An autosomal dominant condition (OMIM:614540) characterised by symmetrical calcification of basal ganglia and other brain regions, which has a range of clinical presentations, from asymptomatic to neuropsychiatric symptoms including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headaches.  

Molecular pathology
Defects of SLC20A2, which encodes a sodium-dependent phosphate symporter that plays a key role in phosphate homeostasis, cause idiopathic basal ganglia calcification type 3.
References in periodicals archive ?
Further refinement of the IBGC3 locus identified missense mutations, small deletions and splice site mutations in the SLC20A2 gene, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry (5), (10), (11).
23 chromosomal region (IBGC3) (3), (5) Sequencing results of candidate genes within IBGC3 region in the index subjects of these two Chinese families identified a missense mutation in each family in SLC20A2 (5).