MCID: PRM175
MIFTS: 18

Primary Familial Brain Calcification malady

Genetic diseases (common), Neuronal diseases categories
Download this MalaCard

Summaries for Primary Familial Brain Calcification

About this section
Sources:
19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
19GeneReviews, 20GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

primary familial brain calcification 19 20


Related Diseases for Primary Familial Brain Calcification

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Primary Familial Brain Calcification

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Familial Brain Calcification:

33
Brain

Animal Models for Primary Familial Brain Calcification or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Primary Familial Brain Calcification:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1SLC20A2, PDGFRB
2MP:00053829.0SLC20A2, PDGFRB
3MP:00053918.8SLC20A2, PDGFRB

Publications for Primary Familial Brain Calcification

About this section
Sources:
52PubMed
See all sources

Articles related to Primary Familial Brain Calcification:

idTitleAuthorsYear
1
Primary Familial Brain Calcification (20301594)
1993

Variations for Primary Familial Brain Calcification

About this section

Expression for genes affiliated with Primary Familial Brain Calcification

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Familial Brain Calcification

Search GEO for disease gene expression data for Primary Familial Brain Calcification.

Pathways for genes affiliated with Primary Familial Brain Calcification

About this section

Compounds for genes affiliated with Primary Familial Brain Calcification

About this section
Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1serine459.1SLC20A2, PDGFRB
2alanine458.8SLC20A2, PDGFRB

GO Terms for genes affiliated with Primary Familial Brain Calcification

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Familial Brain Calcification

About this section
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