IBGC4
MCID: BSL032
MIFTS: 18

Basal Ganglia Calcification, Idiopathic, 4 (IBGC4) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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

Name: Basal Ganglia Calcification, Idiopathic, 4 54 66 29 13 69
Ibgc4 66

Characteristics:

HPO:

32
basal ganglia calcification, idiopathic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 615007

Summaries for Basal Ganglia Calcification, Idiopathic, 4

UniProtKB/Swiss-Prot : 66 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, depression and migraine. 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... (615007) more...

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 basal ganglia calcification, idiopathic, 1 10.9

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 4

Symptoms by clinical synopsis from OMIM:

615007

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 HP:0000639
2 depression 32 HP:0000716
3 migraine 32 HP:0002076
4 dementia 32 HP:0000726
5 parkinsonism 32 HP:0001300
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:

66
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....