MCID: BSL032
MIFTS: 13

Basal Ganglia Calcification, Idiopathic, 4 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

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 46 9


Classifications:



External Ids:

OMIM46 615007

Summaries for Basal Ganglia Calcification, Idiopathic, 4

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OMIM:46 Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of... (615007) more...

MalaCards based summary: Basal Ganglia Calcification, Idiopathic, 4 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 polypeptide). Affiliated tissues include brain.

Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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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:

(show all 6)
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 autosomal dominant inheritance HP:0000006
6 basal ganglia calcification HP:0002135

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

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Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Calcification, Idiopathic, 4

Search 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:

31
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:

63
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Leu658ProVAR_069320
2PDGFRBp.Arg987TrpVAR_069321

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 pathogenicGRCh38Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet