IBGC6
MCID: BSL039
MIFTS: 23

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 57 74 29 6
Ibgc6 57 74
Calcification, Basal Ganglia, Idiopathic, Type 6 40

Characteristics:

OMIM:

57
Miscellaneous:
adult onset
progressive disorder
some patients may be asymptomatic
variable features

Inheritance:
autosomal dominant


HPO:

32
basal ganglia calcification, idiopathic, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

Summaries for Basal Ganglia Calcification, Idiopathic, 6

UniProtKB/Swiss-Prot : 74 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 : 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)

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 depressivity 32 HP:0000716
3 dysarthria 32 HP:0001260
4 memory impairment 32 HP:0002354
5 dementia 32 HP:0000726
6 choreoathetosis 32 HP:0001266
7 parkinsonism 32 HP:0001300
8 palilalia 32 HP:0031814
9 basal ganglia calcification 32 HP:0002135

Symptoms via clinical synopsis from OMIM:

57
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 29 XPR1

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 6

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

41
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. 8 71
25938945 2015
2
Familial idiopathic cerebral calcifications. 8 71
886353 1977
3
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). 8
15596772 2004
4
Primary Familial Brain Calcification 71
20301594 2004
5
Familial palilalia. 8
4795427 1973

Variations for Basal Ganglia Calcification, Idiopathic, 6

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 XPR1 NM_004736.4(XPR1): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs786205901 1:180772734-180772734 1:180803598-180803598
2 XPR1 NM_004736.4(XPR1): c.407G> A (p.Ser136Asn) single nucleotide variant Pathogenic rs786205902 1:180772707-180772707 1:180803571-180803571
3 XPR1 NM_004736.4(XPR1): c.419T> C (p.Leu140Pro) single nucleotide variant Pathogenic rs786205903 1:180772719-180772719 1:180803583-180803583
4 XPR1 NM_004736.4(XPR1): c.653T> C (p.Leu218Ser) single nucleotide variant Pathogenic rs786205904 1:180775665-180775665 1:180806529-180806529
5 XPR1 NM_004736.4(XPR1): c.1954G> A (p.Val652Ile) single nucleotide variant Uncertain significance 1:180849357-180849357 1:180880221-180880221

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

74
# 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....