IBGC2
MCID: BSL031
MIFTS: 16

Basal Ganglia Calcification, Idiopathic, 2 (IBGC2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 2

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 2:

Name: Basal Ganglia Calcification, Idiopathic, 2 57 29 13
Basal Ganglia Calcification, Idiopathic 2 72
Ibgc2 57

Classifications:



External Ids:

MedGen 42 C1847731
UMLS 72 C1847731

Summaries for Basal Ganglia Calcification, Idiopathic, 2

OMIM : 57 Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic (summary by Volpato et al., 2009). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (606656)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 2, also known as basal ganglia calcification, idiopathic 2, is related to primary familial brain calcification and basal ganglia calcification, idiopathic, 1. An important gene associated with Basal Ganglia Calcification, Idiopathic, 2 is IBGC2 (Basal Ganglia Calcification, Idiopathic, 2). Affiliated tissues include brain.

Related Diseases for Basal Ganglia Calcification, Idiopathic, 2

Diseases in the Basal Ganglia Calcification, Idiopathic, 1 family:

Basal Ganglia Calcification, Idiopathic, 2 Basal Ganglia Calcification, Idiopathic, 4
Basal Ganglia Calcification, Idiopathic, 5 Basal Ganglia Calcification, Idiopathic, 6
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Diseases related to Basal Ganglia Calcification, Idiopathic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary familial brain calcification 11.6
2 basal ganglia calcification, idiopathic, 1 10.2
3 basal ganglia calcification 10.2

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 2

Clinical features from OMIM:

606656

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 2

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 2

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 2

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 2:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 2 29

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 2

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 2:

41
Brain

Publications for Basal Ganglia Calcification, Idiopathic, 2

Articles related to Basal Ganglia Calcification, Idiopathic, 2:

# Title Authors PMID Year
1
Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. 8
20552677 2010
2
2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. 8
19757205 2009
3
Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC). 8
18361429 2008
4
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). 38
29627011 2018
5
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. 38
27862320 2016
6
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. 38
27671522 2016
7
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). 38
20838928 2011

Variations for Basal Ganglia Calcification, Idiopathic, 2

Expression for Basal Ganglia Calcification, Idiopathic, 2

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 2.

Pathways for Basal Ganglia Calcification, Idiopathic, 2

GO Terms for Basal Ganglia Calcification, Idiopathic, 2

Sources for Basal Ganglia Calcification, Idiopathic, 2

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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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
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