MCID: BSL032
MIFTS: 18

Basal Ganglia Calcification, Idiopathic, 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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

Name: Basal Ganglia Calcification, Idiopathic, 4 53 71 28 13 69
Ibgc4 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nystagmus, depressivity and dementia. An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include brain.

OMIM : 53 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:

53
Head And Neck Eyes:
nystagmus (rare)

Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)

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

Clinical features from OMIM:

615007

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 depressivity 31 HP:0000716
3 dementia 31 occasional (7.5%) HP:0000726
4 parkinsonism 31 occasional (7.5%) HP:0001300
5 migraine 31 occasional (7.5%) HP:0002076
6 basal ganglia calcification 31 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 28 PDGFRB

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

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

38
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:

71
# 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
# 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.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs397509382 GRCh37 Chromosome 5, 149497359: 149497359
3 PDGFRB NM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys) single nucleotide variant Likely pathogenic rs138008832 GRCh38 Chromosome 5, 150123142: 150123142

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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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