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 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 all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.2023+5C>TSNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
5 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dupduplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
6 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)SNV Uncertain significance 581169 rs374802057 5:149511568-149511568 5:150132005-150132005
7 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
8 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
9 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>TSNV Uncertain significance 572749 rs571983343 5:149500576-149500576 5:150121013-150121013
10 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
11 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)SNV Uncertain significance 656806 5:149505038-149505038 5:150125475-150125475
12 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)SNV Uncertain significance 663275 5:149509449-149509449 5:150129886-150129886
13 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)SNV Uncertain significance 639829 5:149512503-149512503 5:150132940-150132940
14 PDGFRB NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)SNV Benign 258780 rs17110944 5:149515397-149515397 5:150135834-150135834
15 PDGFRB NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)SNV Benign 473404 rs56072663 5:149504348-149504348 5:150124785-150124785
16 PDGFRB NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)SNV Benign 473402 rs41287110 5:149509446-149509446 5:150129883-150129883
17 PDGFRB NM_002609.4(PDGFRB):c.102C>T (p.Val34=)SNV Benign 473399 rs17708515 5:149515380-149515380 5:150135817-150135817

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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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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