MCID: PRM175
MIFTS: 18

Primary Familial Brain Calcification malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Primary Familial Brain Calcification

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20GeneReviews, 34MalaCards
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MalaCards: Primary Familial Brain Calcification is related to primary familial brain calcification 1 and primary familial brain calcification 2. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2). The compounds serine and alanine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are skeleton and craniofacial.

GeneReviews summary for bgc

Aliases & Classifications for Primary Familial Brain Calcification

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20GeneReviews, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

primary familial brain calcification 20 21


Related Diseases for Primary Familial Brain Calcification

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18GeneCards, 19GeneDecks
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Diseases in the Primary Familial Brain Calcification 4 family:

primary familial brain calcification Primary Familial Brain Calcification 1
Primary Familial Brain Calcification 2 Primary Familial Brain Calcification 3

Diseases related to Primary Familial Brain Calcification via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary familial brain calcification 110.3
2primary familial brain calcification 210.3
3primary familial brain calcification 310.3
4primary familial brain calcification 410.3
5familial idiopathic basal ganglia calcification10.2
6leukemia10.0SLC20A2, PDGFRB

Graphical network of diseases related to Primary Familial Brain Calcification:



Diseases related to primary familial brain calcification

Symptoms for Primary Familial Brain Calcification

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Drugs & Therapeutics for Primary Familial Brain Calcification

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Primary Familial Brain Calcification

Drug clinical trials:

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Search NIH Clinical Center for Primary Familial Brain Calcification

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Genetic Tests for Primary Familial Brain Calcification

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21GeneTests
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Genetic tests related to Primary Familial Brain Calcification:

id Genetic test Affiliating Genes
1 Primary Familial Brain Calcification21 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

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34MalaCards
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MalaCards organs/tissues related to Primary Familial Brain Calcification:

34
Brain

Animal Models for Primary Familial Brain Calcification or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Primary Familial Brain Calcification:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1SLC20A2, PDGFRB
2MP:00053829.0SLC20A2, PDGFRB
3MP:00053918.8SLC20A2, PDGFRB

Publications for Primary Familial Brain Calcification

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53PubMed
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Articles related to Primary Familial Brain Calcification:

idTitleAuthorsYear
1
Primary Familial Brain Calcification (20301594)
1993

Variations for Primary Familial Brain Calcification

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Expression for genes affiliated with Primary Familial Brain Calcification

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Familial Brain Calcification

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Pathways for genes affiliated with Primary Familial Brain Calcification

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Compounds for genes affiliated with Primary Familial Brain Calcification

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46Novoseek
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Compounds related to Primary Familial Brain Calcification according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine469.1SLC20A2, PDGFRB
2alanine468.8SLC20A2, PDGFRB

GO Terms for genes affiliated with Primary Familial Brain Calcification

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17Gene Ontology
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Cellular components related to Primary Familial Brain Calcification according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:0160209.1SLC20A2, PDGFRB

Products for genes affiliated with Primary Familial Brain Calcification

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Familial Brain Calcification

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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