IBGC6
MCID: BSL039
MIFTS: 21

Basal Ganglia Calcification, Idiopathic, 6 (IBGC6)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 6

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 6:

Name: Basal Ganglia Calcification, Idiopathic, 6 58 76 30 6
Ibgc6 58 76
Calcification, Basal Ganglia, Idiopathic, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
progressive disorder
some patients may be asymptomatic
variable features


HPO:

33
basal ganglia calcification, idiopathic, 6:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 6

UniProtKB/Swiss-Prot : 76 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 : 58 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)

Related Diseases for Basal Ganglia Calcification, Idiopathic, 6

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 6

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 6:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 depressivity 33 HP:0000716
3 dysarthria 33 HP:0001260
4 memory impairment 33 HP:0002354
5 dementia 33 HP:0000726
6 choreoathetosis 33 HP:0001266
7 parkinsonism 33 HP:0001300
8 palilalia 33 HP:0031814
9 basal ganglia calcification 33 HP:0002135

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
cognitive impairment
memory impairment
dementia
involuntary movements
more
Neurologic Behavioral Psychiatric Manifestations:
depression
behavioral abnormalities
nervous affect

Clinical features from OMIM:

616413

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 6

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

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 6

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 6:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 6 30 XPR1

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 6

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 6:

42
Brain, Cerebellum, Thalamus

Publications for Basal Ganglia Calcification, Idiopathic, 6

Articles related to Basal Ganglia Calcification, Idiopathic, 6:

# Title Authors Year
1
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. ( 25938945 )
2015
2
Familial idiopathic cerebral calcifications. ( 886353 )
1977

Variations for Basal Ganglia Calcification, Idiopathic, 6

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 6:

76
# Symbol AA change Variation ID SNP ID
1 XPR1 p.Ser136Asn VAR_073840 rs786205902
2 XPR1 p.Leu140Pro VAR_073841 rs786205903
3 XPR1 p.Leu145Pro VAR_073842 rs786205901
4 XPR1 p.Leu218Ser VAR_073843 rs786205904

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XPR1 NM_004736.3(XPR1): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs786205901 GRCh38 Chromosome 1, 180803598: 180803598
2 XPR1 NM_004736.3(XPR1): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs786205901 GRCh37 Chromosome 1, 180772734: 180772734
3 XPR1 NM_004736.3(XPR1): c.407G> A (p.Ser136Asn) single nucleotide variant Pathogenic rs786205902 GRCh38 Chromosome 1, 180803571: 180803571
4 XPR1 NM_004736.3(XPR1): c.407G> A (p.Ser136Asn) single nucleotide variant Pathogenic rs786205902 GRCh37 Chromosome 1, 180772707: 180772707
5 XPR1 NM_004736.3(XPR1): c.419T> C (p.Leu140Pro) single nucleotide variant Pathogenic rs786205903 GRCh38 Chromosome 1, 180803583: 180803583
6 XPR1 NM_004736.3(XPR1): c.419T> C (p.Leu140Pro) single nucleotide variant Pathogenic rs786205903 GRCh37 Chromosome 1, 180772719: 180772719
7 XPR1 NM_004736.3(XPR1): c.653T> C (p.Leu218Ser) single nucleotide variant Pathogenic rs786205904 GRCh37 Chromosome 1, 180775665: 180775665
8 XPR1 NM_004736.3(XPR1): c.653T> C (p.Leu218Ser) single nucleotide variant Pathogenic rs786205904 GRCh38 Chromosome 1, 180806529: 180806529

Expression for Basal Ganglia Calcification, Idiopathic, 6

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

Pathways for Basal Ganglia Calcification, Idiopathic, 6

GO Terms for Basal Ganglia Calcification, Idiopathic, 6

Sources for Basal Ganglia Calcification, Idiopathic, 6

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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