MCID: PRM175
MIFTS: 43

Primary Familial Brain Calcification malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primary Familial Brain Calcification

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Sources:
22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 52Orphanet, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 22 46 23 52
Familial Idiopathic Basal Ganglia Calcification 46 23 24 47
Bilateral Striopallidodentate Calcinosis 46 24 52
Fahr's Syndrome 46 47 66
Fibgc 46 23 24
Idiopathic Basal Ganglia Calcification 1 46 25
Cerebrovascular Ferrocalcinosis 24 52
Bspdc 46 52
 
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 46
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 46
Basal Ganglia Calcification, Idiopathic 12
Idiopathic Basal Ganglia Calcification 52
Ferrocalcinosis, Cerebrovascular 46
Striopallidodentate Calcinosis 24
Fahr Disease, Familial 46
Pfbc 52

Characteristics:

Orphanet epidemiological data:

52
primary familial brain calcification:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

Classifications:



External Ids:

Orphanet52 ORPHA1980
ICD10 via Orphanet29 G23.8
UMLS via Orphanet67 C0393590

Summaries for Primary Familial Brain Calcification

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NINDS:47 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 basal ganglia calcification, idiopathic, 6 and basal ganglia calcification, idiopathic, 4, and has symptoms including athetosis, athetosis and cerebellar ataxia. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways are Development EGFR signaling via small GTPases and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, eye and cortex.

Genetics Home Reference:24 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:46 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:

 52 (show all 11)
  • microcephaly
  • seizures
  • abnormality of the liver
  • intrauterine growth retardation
  • thrombocytopenia
  • subcutaneous hemorrhage
  • ventriculomegaly
  • hepatomegaly
  • abnormality of neuronal migration
  • cerebral calcification
  • corneal opacity

UMLS symptoms related to Primary Familial Brain Calcification:


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

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
2Detection and Treatment of Endocrine Abnormalities in Childhood Cancer Survivors and Hematopoietic Stem Cell Transplant RecipientsRecruitingNCT00504218
3Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsRecruitingNCT02428673

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 Idiopathic Basal Ganglia Calcification 125
2 Primary Familial Brain Calcification23 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

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MalaCards organs/tissues related to Primary Familial Brain Calcification:

34
Brain, Eye, Cortex, Liver

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 18)
idTitleAuthorsYear
1
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. (26723961)
2016
2
XPR1 mutations are a rare cause of primary familial brain calcification. (27230854)
2016
3
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. (26860091)
2016
4
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
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
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. (26195350)
2015
9
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. (26599395)
2015
10
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (25938945)
2015
11
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. (25958344)
2015
12
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
13
Primary familial brain calcification: genetic analysis and clinical spectrum. (26094947)
2015
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
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
17
An update on primary familial brain calcification. (24209445)
2013
18
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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Cellular components related to Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.0PDGFRB, XPR1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.0PDGFB, PDGFRB
2positive regulation of smooth muscle cell migrationGO:00149119.9PDGFB, PDGFRB
3positive regulation of chemotaxisGO:00509219.9PDGFB, PDGFRB
4phosphatidylinositol phosphorylationGO:00468549.9PDGFB, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.9PDGFB, PDGFRB
6regulation of phosphatidylinositol 3-kinase signalingGO:00140669.9PDGFB, PDGFRB
7positive regulation of reactive oxygen species metabolic processGO:20003799.9PDGFB, PDGFRB
8platelet-derived growth factor receptor signaling pathwayGO:00480089.8PDGFB, PDGFRB
9phosphatidylinositol-mediated signalingGO:00480159.8PDGFB, PDGFRB
10positive regulation of smooth muscle cell proliferationGO:00486619.8PDGFB, PDGFRB
11positive regulation of calcium ion importGO:00902809.8PDGFB, PDGFRB
12phosphate ion transmembrane transportGO:00354359.8SLC20A2, XPR1
13positive regulation of fibroblast proliferationGO:00481469.7PDGFB, PDGFRB
14peptidyl-tyrosine phosphorylationGO:00181089.7PDGFB, PDGFRB
15positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7PDGFB, PDGFRB
16positive regulation of MAP kinase activityGO:00434069.6PDGFB, PDGFRB
17response to estrogenGO:00436279.6PDGFB, PDGFRB
18positive regulation of DNA biosynthetic processGO:20005739.6PDGFB, PDGFRB
19cell chemotaxisGO:00603269.6PDGFB, PDGFRB
20positive regulation of cell migrationGO:00303359.4PDGFB, PDGFRB
21response to estradiolGO:00323559.3PDGFB, PDGFRB
22wound healingGO:00420609.3PDGFB, PDGFRB
23viral entry into host cellGO:00467189.2SLC20A2, XPR1
24positive regulation of ERK1 and ERK2 cascadeGO:00703749.2PDGFB, PDGFRB
25positive regulation of mitotic nuclear divisionGO:00458409.0PDGFB, PDGFRB

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:00051619.8PDGFB, PDGFRB
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.7PDGFB, PDGFRB
3platelet-derived growth factor bindingGO:00484079.6PDGFB, PDGFRB
4virus receptor activityGO:00016189.1SLC20A2, XPR1
5Ras guanyl-nucleotide exchange factor activityGO:00050889.0PDGFB, PDGFRB

Sources for Primary Familial Brain Calcification

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet