IBGC4
MCID: BSL032
MIFTS: 18

Basal Ganglia Calcification, Idiopathic, 4 (IBGC4)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 75 29 13 6 73
Ibgc4 57 75
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:



Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : 75 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 related phenotypes are nystagmus and depressivity

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

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

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 depressivity 32 HP:0000716
3 migraine 32 occasional (7.5%) HP:0002076
4 dementia 32 occasional (7.5%) HP:0000726
5 parkinsonism 32 occasional (7.5%) HP:0001300
6 basal ganglia calcification 32 HP:0002135

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

Publications for Basal Ganglia Calcification, Idiopathic, 4

Variations for Basal Ganglia Calcification, Idiopathic, 4

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

75
# 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

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

6 (show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDGFRB NM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro) single nucleotide variant Pathogenic rs397509381 GRCh37 Chromosome 5, 149503863: 149503863
2 PDGFRB NM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro) single nucleotide variant Pathogenic rs397509381 GRCh38 Chromosome 5, 150124300: 150124300
3 PDGFRB NM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs397509382 GRCh37 Chromosome 5, 149497359: 149497359
4 PDGFRB NM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs397509382 GRCh38 Chromosome 5, 150117796: 150117796
5 PDGFRB NM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys) single nucleotide variant Likely pathogenic rs138008832 GRCh38 Chromosome 5, 150123142: 150123142
6 PDGFRB NM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys) single nucleotide variant Likely pathogenic rs138008832 GRCh37 Chromosome 5, 149502705: 149502705
7 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh38 Chromosome 5, 150135834: 150135834
8 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh37 Chromosome 5, 149515397: 149515397
9 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh37 Chromosome 5, 149500514: 149500514
10 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh38 Chromosome 5, 150120951: 150120951
11 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh37 Chromosome 5, 149512407: 149512407
12 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh38 Chromosome 5, 150132844: 150132844
13 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh37 Chromosome 5, 149504348: 149504348
14 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh38 Chromosome 5, 150124785: 150124785
15 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh37 Chromosome 5, 149509394: 149509394
16 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh38 Chromosome 5, 150129831: 150129831
17 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh37 Chromosome 5, 149497199: 149497199
18 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh38 Chromosome 5, 150117636: 150117636
19 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh37 Chromosome 5, 149511636: 149511636
20 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh38 Chromosome 5, 150132073: 150132073
21 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh37 Chromosome 5, 149514583: 149514583
22 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh38 Chromosome 5, 150135020: 150135020
23 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
24 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
25 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
26 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
27 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
28 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
29 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
30 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
31 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh38 Chromosome 5, 150124245: 150124245
32 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh37 Chromosome 5, 149503808: 149503808
33 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh38 Chromosome 5, 150125491: 150125491
34 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh37 Chromosome 5, 149505054: 149505054
35 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
36 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427
37 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh38 Chromosome 5, 150118807: 150118807
38 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh37 Chromosome 5, 149498370: 149498370
39 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 150124230: 150137067
40 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 149503793: 149516630
41 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance rs374802057 GRCh37 Chromosome 5, 149511568: 149511568
42 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance rs374802057 GRCh38 Chromosome 5, 150132005: 150132005
43 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149514460: 149514460
44 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150134897: 150134897
45 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150117816: 150117816
46 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149497379: 149497379
47 PDGFRB NM_002609.3(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance rs571983343 GRCh38 Chromosome 5, 150121013: 150121013
48 PDGFRB NM_002609.3(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance rs571983343 GRCh37 Chromosome 5, 149500576: 149500576
49 PDGFRB NM_002609.3(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150130560: 150130560
50 PDGFRB NM_002609.3(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149510123: 149510123

Expression for Basal Ganglia Calcification, Idiopathic, 4

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Pathways for Basal Ganglia Calcification, Idiopathic, 4

GO Terms for Basal Ganglia Calcification, Idiopathic, 4

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