BSPDC
MCID: BSL033
MIFTS: 41

Basal Ganglia Cancification, Idiopathic, 1 (BSPDC) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Basal Ganglia Cancification, Idiopathic, 1

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47OMIM, 33MalaCards
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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:47 213600,606656,615483,615007

Aliases & Classifications for Basal Ganglia Cancification, Idiopathic, 1

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49Orphanet, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS 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):

49
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

basal ganglia cancification, idiopathic, 1 47
bilateral striopallidodentate calcinosis 49
idiopathic basal ganglia calcification 49
cerebrovascular ferrocalcinosis 49
bspdc 49


External Ids:

SNOMED-CT via Orphanet59 110997000
ICD10 via Orphanet26 G23.8
UMLS via Orphanet63 C0393590

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

Symptoms for Basal Ganglia Cancification, Idiopathic, 1

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

213600

Clinical features from OMIM:

213600,606656,615483,615007

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Cancification, Idiopathic, 1

Search NIH Clinical Center for Basal Ganglia Cancification, Idiopathic, 1

Genetic Tests for Basal Ganglia Cancification, Idiopathic, 1

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Anatomical Context for Basal Ganglia Cancification, Idiopathic, 1

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33MalaCards
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MalaCards organs/tissues related to Basal Ganglia Cancification, Idiopathic, 1:

33
Brain, Liver

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

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37MGI
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MGI Mouse Phenotypes related to Basal Ganglia Cancification, Idiopathic, 1:

37
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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64UniProtKB/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:

64
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, 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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50PathCards, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN
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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 pathway38
9.1PDGFB, PDGFRB
79.1PDGFB, PDGFRB
8
Show member pathways
9.1PDGFB, PDGFRB
99.1PDGFRB, PDGFB
10
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1PDGFB, PDGFRB
11
Show member pathways
9.1PDGFB, PDGFRB
12
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1PDGFRB, PDGFB
139.1PDGFB, PDGFRB
149.1PDGFB, PDGFRB
159.1PDGFRB, PDGFB
16
Show member pathways
PDGF Pathway38
9.1PDGFB, PDGFRB
179.1PDGFRB, PDGFB
18
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.1PDGFB, PDGFRB
19
Show member pathways
Signaling Pathways in Glioblastoma38
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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61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank
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Compounds related to Basal Ganglia Cancification, Idiopathic, 1 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1sunitinib malate619.4PDGFB, PDGFRB
2dmpq dihydrochloride619.4PDGFRB, PDGFB
3su 16f619.3PDGFRB, PDGFB
4su 6668619.3PDGFRB, PDGFB
5bromodeoxyuridine459.3PDGFB, PDGFRB
6tgf beta1459.2PDGFRB, PDGFB
7imatinib45 51 1111.2PDGFB, PDGFRB
8agar459.1PDGFB, PDGFRB
9ribonucleic acid459.0PDGFRB, PDGFB
10phosphotyrosine458.8PDGFRB, PDGFB
11serine458.6SLC20A2, PDGFB, PDGFRB

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 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet