IBGC4
MCID: BSL032
MIFTS: 23

Basal Ganglia Calcification, Idiopathic, 4 (IBGC4)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 4:

Name: Basal Ganglia Calcification, Idiopathic, 4 57 74 29 13 6 72
Ibgc4 57 74
Calcification, Basal Ganglia, Idiopathic, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
most patients are asymptomatic
one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
variable age of onset of symptoms


HPO:

32
basal ganglia calcification, idiopathic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

UMLS 72 C3554321

Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : 74 Basal ganglia calcification, idiopathic, 4: 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, 4, is also known as ibgc4. An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include brain and smooth muscle, and related phenotypes are nystagmus and migraine

OMIM : 57 Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (615007)

Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 migraine 32 occasional (7.5%) HP:0002076
3 dementia 32 occasional (7.5%) HP:0000726
4 parkinsonism 32 occasional (7.5%) HP:0001300
5 depressivity 32 HP:0000716
6 basal ganglia calcification 32 HP:0002135

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
basal ganglia calcifications
dementia (in some patients)
parkinsonism (in some)
impaired executive function (in some patients)
migraine (in some patients)
more
Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)

Head And Neck Eyes:
nystagmus (rare)

Clinical features from OMIM:

615007

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 4

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 4

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 4:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 4 29 PDGFRB

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:

41
Brain, Smooth Muscle

Publications for Basal Ganglia Calcification, Idiopathic, 4

Articles related to Basal Ganglia Calcification, Idiopathic, 4:

# Title Authors PMID Year
1
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. 8 71
23255827 2013
2
Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. 8
19506901 2009
3
Primary Familial Brain Calcification 71
20301594 2004

Variations for Basal Ganglia Calcification, Idiopathic, 4

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRB NM_002609.4(PDGFRB): c.1973T> C (p.Leu658Pro) single nucleotide variant Pathogenic rs397509381 5:149503863-149503863 5:150124300-150124300
2 PDGFRB NM_002609.4(PDGFRB): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs397509382 5:149497359-149497359 5:150117796-150117796
3 PDGFRB NM_002609.4(PDGFRB): c.2083C> T (p.Arg695Cys) single nucleotide variant Likely pathogenic rs138008832 5:149502705-149502705 5:150123142-150123142
4 PDGFRB NM_002609.4(PDGFRB): c.937A> G (p.Ser313Gly) single nucleotide variant Uncertain significance 5:149512503-149512503 5:150132940-150132940
5 PDGFRB NM_002609.4(PDGFRB): c.1450G> A (p.Glu484Lys) single nucleotide variant Uncertain significance 5:149509449-149509449 5:150129886-150129886
6 PDGFRB NM_002609.4(PDGFRB): c.1777T> C (p.Trp593Arg) single nucleotide variant Uncertain significance 5:149505038-149505038 5:150125475-150125475
7 PDGFRB NM_002609.4(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 5:149503808-149503808 5:150124245-150124245
8 PDGFRB NM_002609.4(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 5:149509427-149509427 5:150129864-150129864
9 PDGFRB NC_000005.9: g.(?_149503793)_(149516630_?)dup duplication Uncertain significance 5:149503793-149516630 5:150124230-150137067
10 PDGFRB NM_002609.4(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance 5:149511568-149511568 5:150132005-150132005
11 PDGFRB NM_002609.4(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance 5:149514460-149514460 5:150134897-150134897
12 PDGFRB NM_002609.4(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance 5:149497379-149497379 5:150117816-150117816
13 PDGFRB NM_002609.4(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance 5:149500576-149500576 5:150121013-150121013
14 PDGFRB NM_002609.4(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance 5:149510123-149510123 5:150130560-150130560
15 PDGFRB NM_002609.4(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 5:149512407-149512407 5:150132844-150132844
16 PDGFRB NM_002609.4(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 5:149500514-149500514 5:150120951-150120951
17 PDGFRB NM_002609.4(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 5:149515397-149515397 5:150135834-150135834
18 PDGFRB NM_002609.4(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 5:149504348-149504348 5:150124785-150124785
19 PDGFRB NM_002609.4(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 5:149514583-149514583 5:150135020-150135020
20 PDGFRB NM_002609.4(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 5:149499657-149499657 5:150120094-150120094
21 PDGFRB NM_002609.4(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 5:149509446-149509446 5:150129883-150129883
22 PDGFRB NM_002609.4(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 5:149509508-149509508 5:150129945-150129945
23 PDGFRB NM_002609.4(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 5:149515380-149515380 5:150135817-150135817
24 PDGFRB NM_002609.4(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 5:149498370-149498370 5:150118807-150118807
25 PDGFRB NM_002609.4(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 5:149505054-149505054 5:150125491-150125491
26 PDGFRB NM_002609.4(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 5:149511636-149511636 5:150132073-150132073
27 PDGFRB NM_002609.4(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 5:149497199-149497199 5:150117636-150117636
28 PDGFRB NM_002609.4(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 5:149509394-149509394 5:150129831-150129831

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

74
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Leu658Pro VAR_069320 rs397509381
2 PDGFRB p.Arg987Trp VAR_069321 rs397509382
3 PDGFRB p.Glu1071Val VAR_075395

Expression for Basal Ganglia Calcification, Idiopathic, 4

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 4.

Pathways for Basal Ganglia Calcification, Idiopathic, 4

GO Terms for Basal Ganglia Calcification, Idiopathic, 4

Sources for Basal Ganglia Calcification, Idiopathic, 4

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....