IBGC4
MCID: BSL032
MIFTS: 23

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 73 29 13 6 71
Ibgc4 57 73
Calcification, Basal Ganglia, Idiopathic, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 615007
OMIM Phenotypic Series 57 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 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) (Updated 05-Mar-2021)

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
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. 6 57
23255827 2013
2
Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. 57
19506901 2009

Variations for Basal Ganglia Calcification, Idiopathic, 4

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

6 (show top 50) (show all 75)
# 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.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 5:149505134-149505134 5:150125571-150125571
4 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 5:149505134-149505134 5:150125571-150125571
5 PDGFRB NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) SNV Likely pathogenic 135650 rs138008832 5:149502705-149502705 5:150123142-150123142
6 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>T SNV Uncertain significance 572749 rs571983343 5:149500576-149500576 5:150121013-150121013
7 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
8 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) SNV Uncertain significance 581169 rs374802057 5:149511568-149511568 5:150132005-150132005
9 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
10 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
11 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
12 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) SNV Uncertain significance 639829 rs1580808180 5:149512503-149512503 5:150132940-150132940
13 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) SNV Uncertain significance 656806 rs770027941 5:149505038-149505038 5:150125475-150125475
14 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) SNV Uncertain significance 663275 rs765124485 5:149509449-149509449 5:150129886-150129886
15 PDGFRB NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) SNV Uncertain significance 948189 5:149499685-149499685 5:150120122-150120122
16 PDGFRB NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) SNV Uncertain significance 951630 5:149515306-149515306 5:150135743-150135743
17 PDGFRB NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) SNV Uncertain significance 955087 5:149514567-149514567 5:150135004-150135004
18 PDGFRB NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) SNV Uncertain significance 958188 5:149498342-149498342 5:150118779-150118779
19 PDGFRB NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) SNV Uncertain significance 958594 5:149500570-149500570 5:150121007-150121007
20 PDGFRB NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) SNV Uncertain significance 971582 5:149515148-149515148 5:150135585-150135585
21 PDGFRB NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter) SNV Uncertain significance 931386 5:149505129-149505129 5:150125566-150125566
22 PDGFRB NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys) SNV Uncertain significance 523454 rs1554107047 5:149495406-149495406 5:150115843-150115843
23 PDGFRB NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr) SNV Uncertain significance 932040 5:149500828-149500828 5:150121265-150121265
24 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>T SNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
25 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) SNV Uncertain significance 863633 5:149505049-149505049 5:150125486-150125486
26 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) SNV Uncertain significance 863739 5:149515439-149515439 5:150135876-150135876
27 PDGFRB NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) SNV Likely benign 707454 rs142992960 5:149509395-149509395 5:150129832-150129832
28 PDGFRB NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) SNV Likely benign 783158 rs75748462 5:149497346-149497346 5:150117783-150117783
29 PDGFRB NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) SNV Likely benign 785900 rs370594710 5:149497399-149497399 5:150117836-150117836
30 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) SNV Likely benign 540600 rs540480924 5:149509427-149509427 5:150129864-150129864
31 PDGFRB NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) SNV Likely benign 772270 rs147303614 5:149515219-149515219 5:150135656-150135656
32 PDGFRB NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) SNV Likely benign 772273 rs371192118 5:149509345-149509345 5:150129782-150129782
33 PDGFRB NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) SNV Likely benign 707690 rs2229560 5:149514363-149514363 5:150134800-150134800
34 PDGFRB NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) SNV Likely benign 711863 rs199649903 5:149504384-149504384 5:150124821-150124821
35 PDGFRB NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) SNV Likely benign 712760 rs144234864 5:149499618-149499618 5:150120055-150120055
36 PDGFRB NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) SNV Likely benign 712778 rs375836509 5:149497285-149497285 5:150117722-150117722
37 PDGFRB NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) SNV Likely benign 712779 rs776113877 5:149497321-149497321 5:150117758-150117758
38 PDGFRB NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) SNV Likely benign 733483 rs35731372 5:149497358-149497358 5:150117795-150117795
39 PDGFRB NM_002609.4(PDGFRB):c.726G>C (p.Val242=) SNV Likely benign 735955 rs149027530 5:149513477-149513477 5:150133914-150133914
40 PDGFRB NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) SNV Likely benign 736581 rs555800957 5:149501549-149501549 5:150121986-150121986
41 PDGFRB NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) SNV Likely benign 767315 rs141511317 5:149495443-149495443 5:150115880-150115880
42 PDGFRB NM_002609.4(PDGFRB):c.1872T>C (p.His624=) SNV Benign 767318 rs141371542 5:149504330-149504330 5:150124767-150124767
43 PDGFRB NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) SNV Benign 767332 rs200225593 5:149512321-149512321 5:150132758-150132758
44 PDGFRB NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) SNV Benign 767571 rs183852315 5:149495377-149495377 5:150115814-150115814
45 PDGFRB NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) SNV Benign 770053 rs142689325 5:149502624-149502624 5:150123061-150123061
46 PDGFRB NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) SNV Benign 770095 rs41287114 5:149513489-149513489 5:150133926-150133926
47 PDGFRB NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) SNV Benign 771564 rs139623802 5:149498325-149498325 5:150118762-150118762
48 PDGFRB NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) SNV Benign 772148 rs150562879 5:149509360-149509360 5:150129797-150129797
49 PDGFRB NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) SNV Benign 707132 rs114435947 5:149495360-149495360 5:150115797-150115797
50 PDGFRB NM_002609.4(PDGFRB):c.1579+10C>T SNV Benign 707151 rs571420039 5:149509310-149509310 5:150129747-150129747

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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45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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