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 52 70 27 12 68
 
Ibgc4 70

Characteristics:

HPO:

64
basal ganglia calcification, idiopathic, 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 615007

Summaries for Basal Ganglia Calcification, Idiopathic, 4

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UniProtKB/Swiss-Prot:70 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:52 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, 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:

idRelated DiseaseScoreTop Affiliating Genes
1basal ganglia calcification, idiopathic, 110.9

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

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Symptoms by clinical synopsis from OMIM:

615007

Clinical features from OMIM:

615007

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

 64
id Description HPO Frequency HPO Source Accession
1 nystagmus64 rare (5%) HP:0000639
2 dementia64 rare (5%) HP:0000726
3 parkinsonism64 rare (5%) HP:0001300
4 migraine64 rare (5%) HP:0002076
5 basal ganglia calcification64 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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Genetic tests related to Basal Ganglia Calcification, Idiopathic, 4:

id Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 427

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

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

36
Brain

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:

70
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Leu658ProVAR_069320rs397509381
2PDGFRBp.Arg987TrpVAR_069321rs397509382
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)SNVLikely pathogenicrs138008832GRCh38Chr 5, 150123142: 150123142
2PDGFRBNM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro)SNVPathogenicrs397509381GRCh37Chr 5, 149503863: 149503863
3PDGFRBNM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp)SNVPathogenicrs397509382GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet