MCID: PRM175
MIFTS: 42

Primary Familial Brain Calcification malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primary Familial Brain Calcification

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Sources:
51Orphanet, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 21 45 22
Familial Idiopathic Basal Ganglia Calcification 45 22 23 46
Bilateral Striopallidodentate Calcinosis 45 23 51
Fahr's Syndrome 45 46 65
Fibgc 45 22 23
Cerebrovascular Ferrocalcinosis 23 51
Bspdc 45 51
 
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 45
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 45
Idiopathic Basal Ganglia Calcification 1 45
Idiopathic Basal Ganglia Calcification 51
Ferrocalcinosis, Cerebrovascular 45
Striopallidodentate Calcinosis 23
Fahr Disease, Familial 45

Characteristics:

Orphanet epidemiological data:

51
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

Classifications:



External Ids:

Orphanet51 1980
ICD10 via Orphanet28 G23.8
UMLS via Orphanet66 C0393590

Summaries for Primary Familial Brain Calcification

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NINDS:46 Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, (poorly articulated speech), (stiffness of the limbs) and spastic paralysis, eye impairments, and (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

MalaCards based summary: Primary Familial Brain Calcification, also known as familial idiopathic basal ganglia calcification, is related to primary familial brain calcification 5 and primary familial brain calcification 1, and has symptoms including microcephaly, seizures and intrauterine growth retardation. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways are Glioblastoma Multiforme and Development EGFR signaling via small GTPases. Affiliated tissues include brain, eye and cortex.

Genetics Home Reference:23 Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.

NIH Rare Diseases:45 Primary familial brain calcification (pfbc) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. the first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. migraines and seizures frequently occur. symptoms typically start in an individual's 30's to 40's but may begin at any age.the neuropsychiatric symptoms and movement disorders worsen over time. mutations in the slc20a2, pdgfrb, and pdgfb genes have been found to cause pfbc. this condition is inherited in an autosomal dominant manner. last updated: 9/4/2015

GeneReviews summary for NBK1421

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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Symptoms:

 51 (show all 12)
  • microcephaly
  • purpura/petichiae
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • intrauterine growth retardation
  • corneal clouding/opacity/vascularisation
  • structural anomalies of the liver and the biliary tract

HPO human phenotypes related to Primary Familial Brain Calcification:

(show all 10)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 seizures hallmark (90%) HP:0001250
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 thrombocytopenia hallmark (90%) HP:0001873
5 subcutaneous hemorrhage hallmark (90%) HP:0001933
6 ventriculomegaly hallmark (90%) HP:0002119
7 hepatomegaly hallmark (90%) HP:0002240
8 abnormality of neuronal migration hallmark (90%) HP:0002269
9 cerebral calcification hallmark (90%) HP:0002514
10 opacification of the corneal stroma typical (50%) HP:0007759

UMLS symptoms related to Primary Familial Brain Calcification:


dysdiadochokinesis, extrapyramidal sign, bradykinesia, tremor, muscle rigidity, cerebellar ataxia, athetosis

Drugs & Therapeutics for Primary Familial Brain Calcification

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of HIV Acquired in Infancy or ChildhoodCompletedNCT00924365

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 Calcification22 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

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MalaCards organs/tissues related to Primary Familial Brain Calcification:

33
Brain, Eye, Cortex, Liver, Breast, Ovary, Pituitary

Animal Models for Primary Familial Brain Calcification or affiliated genes

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Publications for Primary Familial Brain Calcification

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Articles related to Primary Familial Brain Calcification:

(show all 17)
idTitleAuthorsYear
1
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. (26860091)
2016
2
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. (26723961)
2016
3
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
4
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. (25958344)
2015
5
Primary familial brain calcification: update on molecular genetics. (25686613)
2015
6
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. (25686319)
2015
7
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. (26231937)
2015
8
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
9
Primary familial brain calcification: genetic analysis and clinical spectrum. (26094947)
2015
10
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. (26195350)
2015
11
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. (26599395)
2015
12
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (25938945)
2015
13
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
14
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. (25211641)
2014
15
The genetics of primary familial brain calcifications. (25212438)
2014
16
An update on primary familial brain calcification. (24209445)
2013
17
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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GO Terms for genes affiliated with Primary Familial Brain Calcification

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:00357939.9PDGFB, PDGFRB
2positive regulation of DNA biosynthetic processGO:20005739.8PDGFB, PDGFRB
3regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7PDGFB, PDGFRB
4platelet-derived growth factor receptor signaling pathwayGO:00480089.7PDGFB, PDGFRB
5wound healingGO:00420609.7PDGFB, PDGFRB
6positive regulation of reactive oxygen species metabolic processGO:20003799.7PDGFB, PDGFRB
7peptidyl-tyrosine phosphorylationGO:00181089.7PDGFB, PDGFRB
8positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6PDGFB, PDGFRB
9positive regulation of chemotaxisGO:00509219.5PDGFB, PDGFRB
10positive regulation of smooth muscle cell migrationGO:00149119.5PDGFB, PDGFRB
11cell chemotaxisGO:00603269.4PDGFB, PDGFRB
12response to estradiolGO:00323559.3PDGFB, PDGFRB
13activation of MAPKK activityGO:00001869.2PDGFB, PDGFRB
14response to estrogenGO:00436279.0PDGFB, PDGFRB

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.1SLC20A2, XPR1

Sources for Primary Familial Brain Calcification

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet