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GENATLAS PHENOTYPE

last update : 05-11-2014

Symbol	BGCI4
Location	5q32
Name	idiopathic basal ganglia calcification-4
Corresponding gene	PDGFRB
Other symbol(s)	IBGC4
Main clinical features	accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia about half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function; migraine or depression may occur in younger individuals brain imaging showed basal ganglia calcifications and periventricular and subcortical abnormalities on MRI
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)