BSPDC
MCID: BSL033
MIFTS: 41

Basal Ganglia Cancification, Idiopathic, 1 (BSPDC) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Basal Ganglia Cancification, Idiopathic, 1

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48OMIM, 34MalaCards
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MalaCards: Basal Ganglia Cancification, Idiopathic, 1, also known as bilateral striopallidodentate calcinosis, is related to calcinosis and familial idiopathic basal ganglia calcification, 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 PI-3K cascade and Ca-dependent events. 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:48 213600,606656,615483,615007

Aliases & Classifications for Basal Ganglia Cancification, Idiopathic, 1

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50Orphanet, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

basal ganglia cancification, idiopathic, 1 48
bilateral striopallidodentate calcinosis 50
idiopathic basal ganglia calcification 50
cerebrovascular ferrocalcinosis 50
bspdc 50


External Ids:

SNOMED-CT via Orphanet60 110997000
ICD10 via Orphanet27 G23.8
UMLS via Orphanet64 C0393590

Related Diseases for Basal Ganglia Cancification, Idiopathic, 1

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18GeneCards, 19GeneDecks
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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

Symptoms for Basal Ganglia Cancification, Idiopathic, 1

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

213600

Clinical features from OMIM:

213600,606656,615483,615007

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Basal Ganglia Cancification, Idiopathic, 1:

34
Brain, Liver

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

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38MGI
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MGI Mouse Phenotypes related to Basal Ganglia Cancification, Idiopathic, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6SLC20A2, PDGFB, PDGFRB

Publications for Basal Ganglia Cancification, Idiopathic, 1

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Variations for Basal Ganglia Cancification, Idiopathic, 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Cancification, Idiopathic, 1:

65
id Symbol AA change Variation ID SNP ID
1SLC20A2p.Gly498ArgVAR_067546
2SLC20A2p.Glu575LysVAR_067547
3SLC20A2p.Thr595MetVAR_067548
4SLC20A2p.Ser601LeuVAR_067549
5SLC20A2p.Ser601TrpVAR_067550

Clinvar genetic disease variations for Basal Ganglia Cancification, Idiopathic, 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC20A2SLC20A2, GLY498ARGsingle nucleotide variantPathogenic
2SLC20A2NM_006749.4(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
3SLC20A2NM_006749.4(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
4SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
5SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
6SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
7SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
8SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444

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

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Pathways related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PDGFB, PDGFRB
2
Show member pathways
9.1PDGFB, PDGFRB
3
Show member pathways
9.1PDGFRB, PDGFB
4
Show member pathways
9.1PDGFB, PDGFRB
59.1PDGFRB, PDGFB
6
Show member pathways
MAPK signaling pathway39
9.1PDGFB, PDGFRB
79.1PDGFB, PDGFRB
8
Show member pathways
9.1PDGFB, PDGFRB
99.1PDGFRB, PDGFB
10
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.1PDGFB, PDGFRB
11
Show member pathways
9.1PDGFB, PDGFRB
12
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1PDGFRB, PDGFB
139.1PDGFB, PDGFRB
149.1PDGFB, PDGFRB
159.1PDGFRB, PDGFB
16
Show member pathways
PDGF Pathway39
9.1PDGFB, PDGFRB
179.1PDGFRB, PDGFB
18
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.1PDGFB, PDGFRB
19
Show member pathways
Signaling Pathways in Glioblastoma39
9.1PDGFB, PDGFRB
20
Show member pathways
9.1PDGFB, PDGFRB
21
Show member pathways
9.1PDGFRB, PDGFB
22
Show member pathways
9.1PDGFB, PDGFRB
239.1PDGFB, PDGFRB

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

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Sources:
62Tocris Bioscience, 46Novoseek, 52PharmGKB, 12DrugBank
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Compounds related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1sunitinib malate629.4PDGFB, PDGFRB
2dmpq dihydrochloride629.4PDGFRB, PDGFB
3su 16f629.3PDGFRB, PDGFB
4su 6668629.3PDGFRB, PDGFB
5bromodeoxyuridine469.3PDGFB, PDGFRB
6tgf beta1469.2PDGFRB, PDGFB
7imatinib46 52 1211.2PDGFB, PDGFRB
8agar469.1PDGFB, PDGFRB
9ribonucleic acid469.0PDGFRB, PDGFB
10phosphotyrosine468.8PDGFRB, PDGFB
11serine468.6SLC20A2, PDGFB, PDGFRB

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

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17Gene Ontology
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Biological processes related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:0722629.5PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:0357939.5PDGFB, PDGFRB
3positive regulation of DNA biosynthetic processGO:20005739.5PDGFB, PDGFRB
4positive regulation of calcium ion importGO:0902809.5PDGFRB, PDGFB
5positive regulation of chemotaxisGO:0509219.5PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:0149119.5PDGFB, PDGFRB
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.5PDGFRB, PDGFB
8platelet-derived growth factor receptor signaling pathwayGO:0480089.4PDGFB, PDGFRB
9positive regulation of reactive oxygen species metabolic processGO:20003799.4PDGFB, PDGFRB
10positive regulation of mitosisGO:0458409.4PDGFRB, PDGFB
11positive regulation of smooth muscle cell proliferationGO:0486619.4PDGFB, PDGFRB
12cell chemotaxisGO:0603269.4PDGFB, PDGFRB
13positive regulation of MAP kinase activityGO:0434069.4PDGFRB, PDGFB
14positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4PDGFB, PDGFRB
15response to estradiolGO:0323559.4PDGFB, PDGFRB
16peptidyl-tyrosine phosphorylationGO:0181089.3PDGFRB, PDGFB
17positive regulation of ERK1 and ERK2 cascadeGO:0703749.3PDGFB, PDGFRB
18transforming growth factor beta receptor signaling pathwayGO:0071799.3PDGFB, PDGFRB
19positive regulation of cell migrationGO:0303359.2PDGFRB, PDGFB
20phosphatidylinositol-mediated signalingGO:0480159.2PDGFB, PDGFRB
21fibroblast growth factor receptor signaling pathwayGO:0085439.1PDGFB, PDGFRB
22neurotrophin TRK receptor signaling pathwayGO:0480119.1PDGFB, PDGFRB
23Fc-epsilon receptor signaling pathwayGO:0380959.0PDGFRB, PDGFB
24epidermal growth factor receptor signaling pathwayGO:0071738.8PDGFB, PDGFRB

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

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

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet