IBGC6
MCID: BSL039
MIFTS: 24

Basal Ganglia Calcification, Idiopathic, 6 (IBGC6)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 6

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

Name: Basal Ganglia Calcification, Idiopathic, 6 56 73 29 6
Ibgc6 56 73
Calcification, Basal Ganglia, Idiopathic, Type 6 39

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
progressive disorder
some patients may be asymptomatic
variable features

Inheritance:
autosomal dominant


HPO:

31
basal ganglia calcification, idiopathic, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 6

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 seizure and memory impairment

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)

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 memory impairment 31 HP:0002354
3 depressivity 31 HP:0000716
4 dysarthria 31 HP:0001260
5 choreoathetosis 31 HP:0001266
6 dementia 31 HP:0000726
7 parkinsonism 31 HP:0001300
8 basal ganglia calcification 31 HP:0002135
9 palilalia 31 HP:0031814

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
cognitive impairment
memory impairment
dysarthria
involuntary movements
choreoathetosis
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 29 XPR1

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 6

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

40
Brain, Cerebellum, Thalamus

Publications for Basal Ganglia Calcification, Idiopathic, 6

Articles related to Basal Ganglia Calcification, Idiopathic, 6:

# Title Authors PMID Year
1
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. 6 56
25938945 2015
2
Familial idiopathic cerebral calcifications. 56 6
886353 1977
3
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). 56
15596772 2004
4
Primary Familial Brain Calcification 6
20301594 2004
5
Familial palilalia. 56
4795427 1973

Variations for Basal Ganglia Calcification, Idiopathic, 6

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XPR1 NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)SNV Pathogenic 192303 rs786205901 1:180772734-180772734 1:180803598-180803598
2 XPR1 NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)SNV Pathogenic 192304 rs786205902 1:180772707-180772707 1:180803571-180803571
3 XPR1 NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)SNV Pathogenic 192305 rs786205903 1:180772719-180772719 1:180803583-180803583
4 XPR1 NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)SNV Pathogenic 192306 rs786205904 1:180775665-180775665 1:180806529-180806529
5 XPR1 NM_004736.4(XPR1):c.1954G>A (p.Val652Ile)SNV Uncertain significance 634593 rs748681314 1:180849357-180849357 1:180880221-180880221

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

73
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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