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GENATLAS PHENOTYPE

last update : 05-11-2014

Symbol	BGCI5
Location	22q13.1
Name	idiopathic basal ganglia calcification-5
Corresponding gene	PDGFB
Other symbol(s)	IBGC5
Main clinical features	progressive neurologic symptoms associated with brain calcifications mainly affecting the basal ganglia; calcifications may also occur in the thalamus, cerebellum, or white matter motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression but some patients are asymptomatic; age at symptom onset ranges from late childhood to adulthood; the disorder is progressive
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)