IBGC4
MCID: BSL032
MIFTS: 24

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 56 73 29 13 6 71
Ibgc4 56 73
Calcification, Basal Ganglia, Idiopathic, Type 4 39

Characteristics:

OMIM:

56
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:

31
basal ganglia calcification, idiopathic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615007
OMIM Phenotypic Series 56 PS213600
UMLS 71 C3554321

Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : 73 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 : 56 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 migraine 31 occasional (7.5%) HP:0002076
3 dementia 31 occasional (7.5%) HP:0000726
4 parkinsonism 31 occasional (7.5%) HP:0001300
5 depressivity 31 HP:0000716
6 basal ganglia calcification 31 HP:0002135

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
23255827 2013
2
Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. 56
19506901 2009
3
Primary Familial Brain Calcification 6
20301594 2004

Variations for Basal Ganglia Calcification, Idiopathic, 4

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

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRB NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)SNV Pathogenic 39588 rs397509381 5:149503863-149503863 5:150124300-150124300
2 PDGFRB NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)SNV Pathogenic 39589 rs397509382 5:149497359-149497359 5:150117796-150117796
3 PDGFRB NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)SNV Likely pathogenic 135650 rs138008832 5:149502705-149502705 5:150123142-150123142
4 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)SNV Uncertain significance 863633 5:149505049-149505049 5:150125486-150125486
5 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)SNV Uncertain significance 863739 5:149515439-149515439 5:150135876-150135876
6 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dupduplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
7 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)SNV Uncertain significance 581169 rs374802057 5:149511568-149511568 5:150132005-150132005
8 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
9 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
10 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>TSNV Uncertain significance 572749 rs571983343 5:149500576-149500576 5:150121013-150121013
11 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
12 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)SNV Uncertain significance 656806 5:149505038-149505038 5:150125475-150125475
13 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)SNV Uncertain significance 663275 5:149509449-149509449 5:150129886-150129886
14 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)SNV Uncertain significance 639829 5:149512503-149512503 5:150132940-150132940
15 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>TSNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
16 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)SNV Likely benign 540600 rs540480924 5:149509427-149509427 5:150129864-150129864
17 PDGFRB NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)SNV Likely benign 707454 5:149509395-149509395 5:150129832-150129832
18 PDGFRB NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)SNV Likely benign 772273 5:149509345-149509345 5:150129782-150129782
19 PDGFRB NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)SNV Likely benign 767315 5:149495443-149495443 5:150115880-150115880
20 PDGFRB NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)SNV Likely benign 707690 5:149514363-149514363 5:150134800-150134800
21 PDGFRB NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)SNV Likely benign 772270 5:149515219-149515219 5:150135656-150135656
22 PDGFRB NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)SNV Likely benign 783158 5:149497346-149497346 5:150117783-150117783
23 PDGFRB NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)SNV Likely benign 785900 5:149497399-149497399 5:150117836-150117836
24 PDGFRB NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)SNV Likely benign 712778 5:149497285-149497285 5:150117722-150117722
25 PDGFRB NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)SNV Likely benign 712779 5:149497321-149497321 5:150117758-150117758
26 PDGFRB NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)SNV Likely benign 712760 5:149499618-149499618 5:150120055-150120055
27 PDGFRB NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)SNV Likely benign 711863 5:149504384-149504384 5:150124821-150124821
28 PDGFRB NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)SNV Likely benign 733483 5:149497358-149497358 5:150117795-150117795
29 PDGFRB NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)SNV Likely benign 736581 5:149501549-149501549 5:150121986-150121986
30 PDGFRB NM_002609.4(PDGFRB):c.726G>C (p.Val242=)SNV Likely benign 735955 5:149513477-149513477 5:150133914-150133914
31 PDGFRB NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)SNV Benign/Likely benign 285888 rs41287112 5:149512494-149512494 5:150132931-150132931
32 PDGFRB NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)SNV Benign/Likely benign 286389 rs41287108 5:149500514-149500514 5:150120951-150120951
33 PDGFRB NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)SNV Benign/Likely benign 377063 rs2229558 5:149512407-149512407 5:150132844-150132844
34 PDGFRB NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)SNV Benign/Likely benign 707132 5:149495360-149495360 5:150115797-150115797
35 PDGFRB NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)SNV Benign 707246 5:149500535-149500535 5:150120972-150120972
36 PDGFRB NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)SNV Benign 473404 rs56072663 5:149504348-149504348 5:150124785-150124785
37 PDGFRB NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)SNV Benign 473403 rs148974733 5:149509394-149509394 5:150129831-150129831
38 PDGFRB NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)SNV Benign 473406 rs149417689 5:149497199-149497199 5:150117636-150117636
39 PDGFRB NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)SNV Benign 473400 rs2228439 5:149511636-149511636 5:150132073-150132073
40 PDGFRB NM_002609.4(PDGFRB):c.365-4G>TSNV Benign 473407 rs139448702 5:149514583-149514583 5:150135020-150135020
41 PDGFRB NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)SNV Benign 473405 rs148709288 5:149499657-149499657 5:150120094-150120094
42 PDGFRB NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)SNV Benign 473402 rs41287110 5:149509446-149509446 5:150129883-150129883
43 PDGFRB NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)SNV Benign 473401 rs74943037 5:149509508-149509508 5:150129945-150129945
44 PDGFRB NM_002609.4(PDGFRB):c.102C>T (p.Val34=)SNV Benign 473399 rs17708515 5:149515380-149515380 5:150135817-150135817
45 PDGFRB NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)SNV Benign 772148 5:149509360-149509360 5:150129797-150129797
46 PDGFRB NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)SNV Benign 774381 5:149509462-149509462 5:150129899-150129899
47 PDGFRB NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)SNV Benign 767332 5:149512321-149512321 5:150132758-150132758
48 PDGFRB NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)SNV Benign 772279 5:149512332-149512332 5:150132769-150132769
49 PDGFRB NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)SNV Benign 772768 5:149512495-149512495 5:150132932-150132932
50 PDGFRB NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)SNV Benign 770095 5:149513489-149513489 5:150133926-150133926

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

73
# 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

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