MCID: BSL032
MIFTS: 18

Basal Ganglia Calcification, Idiopathic, 4 malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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Aliases & Descriptions for Basal Ganglia Calcification, Idiopathic, 4:

Name: Basal Ganglia Calcification, Idiopathic, 4 49 11 67 24 65
 
Ibgc4 67

Characteristics:

HPO:

61
basal ganglia calcification, idiopathic, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 615007
UMLS65 C3554321

Summaries for Basal Ganglia Calcification, Idiopathic, 4

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UniProtKB/Swiss-Prot:67 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 basal ganglia calcification, idiopathic, 1, and has symptoms including nystagmus, dementia 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:49 Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of... (615007) more...

Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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Diseases in the Basal Ganglia Calcification, Idiopathic, 1 family:

Basal Ganglia Calcification, Idiopathic, 6 Basal Ganglia Calcification, Idiopathic, 2
basal ganglia calcification, idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 5

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

idRelated DiseaseScoreTop Affiliating Genes
1basal ganglia calcification, idiopathic, 110.4

Symptoms for Basal Ganglia Calcification, Idiopathic, 4

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Symptoms by clinical synopsis from OMIM:

615007

Clinical features from OMIM:

615007

HPO human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:

id Description Frequency HPO Source Accession
1 nystagmus rare (5%) HP:0000639
2 dementia rare (5%) HP:0000726
3 parkinsonism rare (5%) HP:0001300
4 migraine rare (5%) HP:0002076
5 basal ganglia calcification HP:0002135

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 4

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 4

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Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

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

33
Brain

Animal Models for Basal Ganglia Calcification, Idiopathic, 4 or affiliated genes

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Publications for Basal Ganglia Calcification, Idiopathic, 4

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Variations for Basal Ganglia Calcification, Idiopathic, 4

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

67
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Leu658ProVAR_069320
2PDGFRBp.Arg987TrpVAR_069321
3PDGFRBp.Glu1071ValVAR_075395

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys)single nucleotide variantLikely pathogenicrs138008832GRCh38Chr 5, 150123142: 150123142
2PDGFRBNM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro)single nucleotide variantPathogenicrs397509381GRCh37Chr 5, 149503863: 149503863
3PDGFRBNM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp)single nucleotide variantPathogenicrs397509382GRCh37Chr 5, 149497359: 149497359

Expression for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 4.

Pathways for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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GO Terms for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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Sources for Basal Ganglia Calcification, Idiopathic, 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet