Basal Ganglia Calcification, Idiopathic, 6 (IBGC6)

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OMIM 56 616413 OMIM Phenotypic Series 56 PS213600 MeSH 43 D001480 D002114

MedGen 41 C4225335 CN231252 SNOMED-CT via HPO 68 128613002 21061000119107 246545002 252157006 255314001 263681008 313307000 32798002 35489007 386807006 43105007 52448006 55533009 78667006 8011004 84757009 91175000 more

UniProtKB/Swiss-Prot : ⁷³ Basal ganglia calcification, idiopathic, 6: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 6, is also known as ibgc6. An important gene associated with Basal Ganglia Calcification, Idiopathic, 6 is XPR1 (Xenotropic And Polytropic Retrovirus Receptor 1). Affiliated tissues include brain, cerebellum and thalamus, and related phenotypes are seizures and depressivity

OMIM : ⁵⁶ Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (616413)

Clinical features from OMIM:

616413

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 6

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 6.