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IBGC6
MCID: BSL039
MIFTS: 21
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Basal Ganglia Calcification, Idiopathic, 6 (IBGC6)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 6:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
adult onset progressive disorder some patients may be asymptomatic variable features HPO:32
basal ganglia calcification, idiopathic, 6:
Onset and clinical course adult onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
75
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 depressivity and seizures OMIM : 57 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) |
Diseases in the Familial Idiopathic Basal Ganglia Calcification family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616413Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 6:32 (show all 9)
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 6:41
Brain,
Cerebellum,
Thalamus
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Genes related to Basal Ganglia Calcification, Idiopathic, 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 6:75
ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 6:6
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Search
GEO
for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 6.
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