MCID: PRM175
MIFTS: 17

Primary Familial Brain Calcification malady

Neuronal diseases, Genetic diseases categories

Summaries for Primary Familial Brain Calcification

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19GeneReviews, 32MalaCards
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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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19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

primary familial brain calcification 19 20


Related Diseases for Primary Familial Brain Calcification

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17GeneCards, 18GeneDecks
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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
5osteosarcoma10.0PDGFRB

Graphical network of diseases related to Primary Familial Brain Calcification:



Diseases related to primary familial brain calcification

Clinical Features for Primary Familial Brain Calcification

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Drugs & Therapeutics for Primary Familial Brain Calcification

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

Search CenterWatch for Primary Familial Brain Calcification

Genetic Tests for Primary Familial Brain Calcification

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20GeneTests
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Genetic tests related to Primary Familial Brain Calcification:

id Genetic test Affiliating Genes
1 Primary Familial Brain Calcification20 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

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32MalaCards
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MalaCards organs/tissues related to Primary Familial Brain Calcification:

32
Brain

Animal Models for Primary Familial Brain Calcification or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Familial Brain Calcification:

36
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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50PubMed
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Articles related to Primary Familial Brain Calcification:

idTitleAuthorsYear
1
Primary Familial Brain Calcification (20301594)
1993

Genetic Variations for Primary Familial Brain Calcification

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Expression for genes affiliated with Primary Familial Brain Calcification

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1BioGPS, 15Gene 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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44Novoseek
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Compounds related to Primary Familial Brain Calcification according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine449.1SLC20A2, PDGFRB
2alanine448.8SLC20A2, PDGFRB

GO Terms for genes affiliated with Primary Familial Brain Calcification

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16Gene 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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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