MCID: BSL032
MIFTS: 19

Basal Ganglia Calcification, Idiopathic, 4

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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

Name: Basal Ganglia Calcification, Idiopathic, 4 54 71 29 13 69
Ibgc4 71

Characteristics:

OMIM:

54
Miscellaneous:
variable age of onset of symptoms
most patients are asymptomatic
one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

Inheritance:
autosomal dominant


HPO:

32
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, also known as ibgc4, is related to primary familial brain calcification 4, and has symptoms including nystagmus, migraine and parkinsonism. An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include brain.

OMIM : 54
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

Diseases in the Basal Ganglia Calcification, Idiopathic, 5 family:

Basal Ganglia Calcification, Idiopathic, 6 Basal Ganglia Calcification, Idiopathic, 2
Basal Ganglia Calcification, Idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 1

Diseases related to Basal Ganglia Calcification, Idiopathic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 primary familial brain calcification 4 10.8

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
subcortical and periventricular white matter abnormalities seen on mri (in some patients)
subcortical atrophy (in some patients)
migraine (in some patients)
dementia (in some patients)
impaired executive function (in some patients)
more
Head And Neck- Eyes:
nystagmus (rare)

Neurologic- Behavioral Psychiatric Manifestations:
depression (in some patients)


Clinical features from OMIM:

615007

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 migraine 32 occasional (7.5%) HP:0002076
3 parkinsonism 32 occasional (7.5%) HP:0001300
4 depression 32 HP:0000716
5 dementia 32 occasional (7.5%) HP:0000726
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:

id Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 4 29

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

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

39
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
id 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
id 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

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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