BSPDC
MCID: BSL033
MIFTS: 41

Basal Ganglia Cancification, Idiopathic, 1 (BSPDC) malady

Neuronal diseases category

Summaries for Basal Ganglia Cancification, Idiopathic, 1

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46OMIM, 32MalaCards
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MalaCards: Basal Ganglia Cancification, Idiopathic, 1, also known as bilateral striopallidodentate calcinosis, is related to calcinosis and basal ganglia disease, and has symptoms including structural anomalies of the liver and the biliary tract, corneal clouding/opacity/vascularisation and intrauterine growth retardation. An important gene associated with Basal Ganglia Cancification, Idiopathic, 1 is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2), and among its related pathways are Signaling in Gap Junctions and Human Embryonic Stem Cell Pluripotency. The compounds sunitinib malate and dmpq dihydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related mouse phenotype vision/eye.

Description from OMIM:46 213600,606656,615483,615007

Aliases & Classifications for Basal Ganglia Cancification, Idiopathic, 1

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46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

basal ganglia cancification, idiopathic, 1 46
bilateral striopallidodentate calcinosis 48
idiopathic basal ganglia calcification 48
cerebrovascular ferrocalcinosis 48
bspdc 48


External Ids:

SNOMED-CT via Orphanet57 110997000
ICD10 via Orphanet26 G23.8

Related Diseases for Basal Ganglia Cancification, Idiopathic, 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Basal Ganglia Cancification, Idiopathic, 1:



Diseases related to basal ganglia cancification, idiopathic, 1

Clinical Features for Basal Ganglia Cancification, Idiopathic, 1

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46OMIM, 48Orphanet
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Clinical features from OMIM:

213600,606656,615483,615007

Clinical synopsis from OMIM:

213600

Symptoms:

48 (show all 12)
  • structural anomalies of the liver and the biliary tract
  • corneal clouding/opacity/vascularisation
  • intrauterine growth retardation
  • autosomal recessive inheritance
  • thrombocytopenia/thrombopenia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intracranial/cerebral calcifications
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • dilated cerebral ventricles without hydrocephaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • purpura/petichiae
  • microcephaly

Drugs & Therapeutics for Basal Ganglia Cancification, Idiopathic, 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Basal Ganglia Cancification, Idiopathic, 1

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Anatomical Context for Basal Ganglia Cancification, Idiopathic, 1

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32MalaCards
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MalaCards organs/tissues related to Basal Ganglia Cancification, Idiopathic, 1:

32
Brain, Liver

Animal Models for Basal Ganglia Cancification, Idiopathic, 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Basal Ganglia Cancification, Idiopathic, 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6SLC20A2, PDGFRB, PDGFB

Publications for Basal Ganglia Cancification, Idiopathic, 1

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Genetic Variations for Basal Ganglia Cancification, Idiopathic, 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Basal Ganglia Cancification, Idiopathic, 1:

62
id Symbol AA change Variation ID SNP ID
1SLC20A2p.Gly498ArgVAR_067546
2SLC20A2p.Glu575LysVAR_067547
3SLC20A2p.Thr595MetVAR_067548
4SLC20A2p.Ser601LeuVAR_067549
5SLC20A2p.Ser601TrpVAR_067550

Expression for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

Search GEO for disease gene expression data for Basal Ganglia Cancification, Idiopathic, 1.

Pathways for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

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51QIAGEN, 29KEGG, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PDGFRB, PDGFB
29.1PDGFRB, PDGFB
3
Hide members
9.1PDGFB, PDGFRB
4
Hide members
9.1PDGFRB, PDGFB
5
Hide members
9.1PDGFRB, PDGFB
6
Hide members
9.1PDGFRB, PDGFB
79.1PDGFRB, PDGFB
8
Development PDGF signaling via STATs and NF-kB
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9.1PDGFB, PDGFRB
9
G-protein signaling H-RAS regulation pathway
Hide members
9.1PDGFRB, PDGFB
10
Cytoskeleton remodeling Role of PDGFs in cell migration
Hide members
9.1PDGFRB, PDGFB
119.1PDGFB, PDGFRB
129.1PDGFRB, PDGFB
13
Hide members
9.1PDGFRB, PDGFB
149.1PDGFRB, PDGFB
159.1PDGFRB, PDGFB

Compounds for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

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59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank
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Compounds related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sunitinib malate599.3PDGFRB, PDGFB
2dmpq dihydrochloride599.2PDGFB, PDGFRB
3su 16f599.2PDGFB, PDGFRB
4su 6668599.1PDGFB, PDGFRB
5imatinib44 49 1111.1PDGFRB, PDGFB
6bromodeoxyuridine449.0PDGFRB, PDGFB
7tgf beta1448.8PDGFRB, PDGFB

GO Terms for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

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16Gene Ontology
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Biological processes related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:0722629.5PDGFRB, PDGFB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:0357939.5PDGFRB, PDGFB
3positive regulation of DNA biosynthetic processGO:20005739.5PDGFB, PDGFRB
4positive regulation of chemotaxisGO:0509219.5PDGFRB, PDGFB
5positive regulation of calcium ion importGO:0902809.5PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:0149119.5PDGFB, PDGFRB
7cell chemotaxisGO:0603269.4PDGFRB, PDGFB
8platelet-derived growth factor receptor signaling pathwayGO:0480089.4PDGFB, PDGFRB
9positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4PDGFB, PDGFRB
10positive regulation of mitosisGO:0458409.4PDGFRB, PDGFB
11positive regulation of reactive oxygen species metabolic processGO:20003799.4PDGFRB, PDGFB
12positive regulation of smooth muscle cell proliferationGO:0486619.4PDGFB, PDGFRB
13positive regulation of MAP kinase activityGO:0434069.4PDGFRB, PDGFB
14positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.4PDGFRB, PDGFB
15peptidyl-tyrosine phosphorylationGO:0181089.3PDGFB, PDGFRB
16response to estradiol stimulusGO:0323559.3PDGFRB, PDGFB
17positive regulation of ERK1 and ERK2 cascadeGO:0703749.3PDGFRB, PDGFB
18positive regulation of cell migrationGO:0303359.2PDGFB, PDGFRB
19transforming growth factor beta receptor signaling pathwayGO:0071799.2PDGFRB, PDGFB
20phosphatidylinositol-mediated signalingGO:0480159.1PDGFRB, PDGFB
21epidermal growth factor receptor signaling pathwayGO:0071739.1PDGFRB, PDGFB
22fibroblast growth factor receptor signaling pathwayGO:0085439.0PDGFB, PDGFRB
23Fc-epsilon receptor signaling pathwayGO:0380958.8PDGFRB, PDGFB

Molecular functions related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:0051619.1PDGFRB, PDGFB
2platelet-derived growth factor bindingGO:0484078.8PDGFRB, PDGFB

Products for genes affiliated with Basal Ganglia Cancification, Idiopathic, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Basal Ganglia Cancification, Idiopathic, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet