MCID: PRM175
MIFTS: 18

Primary Familial Brain Calcification malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Primary Familial Brain Calcification

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Primary Familial Brain Calcification, Aliases & Descriptions:

Name: Primary Familial Brain Calcification 19 20


Classifications:

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


Summaries for Primary Familial Brain Calcification

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MalaCards based summary: 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

Related Diseases for Primary Familial Brain Calcification

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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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Drug clinical trials:

Search ClinicalTrials for Primary Familial Brain Calcification

Search NIH Clinical Center for Primary Familial Brain Calcification

Genetic Tests for Primary Familial Brain Calcification

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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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MalaCards organs/tissues related to Primary Familial Brain Calcification:

31
Brain

Animal Models for Primary Familial Brain Calcification or affiliated genes

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MGI Mouse Phenotypes related to Primary Familial Brain Calcification:

35
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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Articles related to Primary Familial Brain Calcification:

idTitleAuthorsYear
1
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
2
Primary familial brain calcification: update on molecular genetics. (25686613)
2015
3
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. (25686319)
2015
4
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
5
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
6
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. (25211641)
2014
7
An update on primary familial brain calcification. (24209445)
2013
8
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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Search GEO for disease gene expression data for Primary Familial Brain Calcification.

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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Sources:
43Novoseek
See all sources

Compounds related to Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1serine439.1SLC20A2, PDGFRB
2alanine438.8SLC20A2, PDGFRB

GO Terms for genes affiliated with Primary Familial Brain Calcification

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Cellular components related to Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160209.1SLC20A2, PDGFRB

Products for genes affiliated with Primary Familial Brain Calcification

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Primary Familial Brain Calcification

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet