MCID: PRM175
MIFTS: 38

Primary Familial Brain Calcification malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Primary Familial Brain Calcification

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all 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
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
Ibgc1 45


Classifications:



Characteristics (Orphanet epidemiological data):

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


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 basal ganglia calcification, idiopathic, 5 and basal ganglia calcification, 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 (Phosphate Transporter), Member 2), and among its related pathways are Choline metabolism in cancer and Glioblastoma Multiforme. 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 bgc

Related Diseases for Primary Familial Brain Calcification

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Diseases in the Primary Familial Brain Calcification family:

Primary Familial Brain Calcification 5 Primary Familial Brain Calcification 1
Primary Familial Brain Calcification 2 Primary Familial Brain Calcification 3
Primary Familial Brain Calcification 4

Diseases related to Primary Familial Brain Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1basal ganglia calcification, idiopathic, 529.6PDGFB, PDGFRB
2basal ganglia calcification11.2
3basal ganglia calcification, idiopathic, 110.6
4dystonia10.6
5primary familial brain calcification 510.4
6primary familial brain calcification 110.4
7primary familial brain calcification 210.4
8primary familial brain calcification 310.4
9primary familial brain calcification 410.4
10hypoparathyroidism10.4
11dementia10.4
12psoriasis10.4
13pustular psoriasis10.4
14syncope10.4
15schizophrenia10.3
16basal ganglia calcification, idiopathic, 610.3
17basal ganglia calcification, idiopathic, 210.3
18bipolar disorder10.3
19glomerulonephritis10.3
20membranoproliferative glomerulonephritis10.3
21calcinosis10.3
22impulse control disorder10.3
23laryngitis10.3
24mood disorder10.3
25paroxysmal choreoathetosis10.3
26basal ganglia calcification, idiopathic, 410.1
27meningioma, familial9.8PDGFB, PDGFRB
28familial isolated hypoparathyroidism due to impaired pth secretion9.7PDGFB, PDGFRB
29primary trimethylaminuria9.4PDGFB, PDGFRB, SLC20A2, XPR1
30ovarian endometrioid malignant adenofibroma9.3PDGFB, PDGFRB, SLC20A2, XPR1

Graphical network of the top 20 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

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

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 14)
idTitleAuthorsYear
1
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
2
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. (25958344)
2015
3
Primary familial brain calcification: update on molecular genetics. (25686613)
2015
4
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. (25686319)
2015
5
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. (26231937)
2015
6
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
7
Primary familial brain calcification: genetic analysis and clinical spectrum. (26094947)
2015
8
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. (26195350)
2015
9
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (25938945)
2015
10
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
11
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. (25211641)
2014
12
The genetics of primary familial brain calcifications. (25212438)
2014
13
An update on primary familial brain calcification. (24209445)
2013
14
Primary Familial Brain Calcification (20301594)
1993

Variations for Primary Familial Brain Calcification

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Clinvar genetic disease variations for Primary Familial Brain Calcification:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys)single nucleotide variantLikely pathogenicrs138008832GRCh38Chr 5, 150123142: 150123142
2XPR1NM_001135669.1(XPR1): c.434T> C (p.Leu145Pro)single nucleotide variantPathogenicrs786205901GRCh38Chr 1, 180803598: 180803598
3XPR1NM_001135669.1(XPR1): c.407G> A (p.Ser136Asn)single nucleotide variantPathogenicrs786205902GRCh38Chr 1, 180803571: 180803571
4XPR1NM_001135669.1(XPR1): c.419T> C (p.Leu140Pro)single nucleotide variantPathogenicrs786205903GRCh38Chr 1, 180803583: 180803583
5XPR1NM_001135669.1(XPR1): c.653T> C (p.Leu218Ser)single nucleotide variantPathogenicrs786205904GRCh37Chr 1, 180775665: 180775665
6SLC20A2SLC20A2, GLY498ARGsingle nucleotide variantPathogenic
7SLC20A2NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
8SLC20A2NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
9SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
10SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
11PDGFRBNM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro)single nucleotide variantPathogenicrs397509381GRCh37Chr 5, 149503863: 149503863
12PDGFRBNM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp)single nucleotide variantPathogenicrs397509382GRCh37Chr 5, 149497359: 149497359
13SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
14SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
15SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444
16PDGFBNM_002608.2(PDGFB): c.433C> T (p.Gln145Ter)single nucleotide variantPathogenicrs397515631GRCh37Chr 22, 39627650: 39627650
17PDGFBNM_002608.2(PDGFB): c.356T> C (p.Leu119Pro)single nucleotide variantPathogenicrs397515632GRCh37Chr 22, 39627727: 39627727
18PDGFBNM_002608.2(PDGFB): c.726G> C (p.Ter242Tyr)single nucleotide variantPathogenicrs398122398GRCh37Chr 22, 39621728: 39621728
19PDGFBNM_002608.2(PDGFB): c.445C> T (p.Arg149Ter)single nucleotide variantPathogenicrs397515633GRCh37Chr 22, 39627638: 39627638
20PDGFBNM_002608.2(PDGFB): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs398122399GRCh37Chr 22, 39639966: 39639966

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 22)
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:20005739.9PDGFB, PDGFRB
3platelet-derived growth factor receptor signaling pathwayGO:00480089.9PDGFB, PDGFRB
4positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8PDGFB, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7PDGFB, PDGFRB
6positive regulation of chemotaxisGO:00509219.7PDGFB, PDGFRB
7positive regulation of calcium ion importGO:00902809.7PDGFB, PDGFRB
8phosphatidylinositol-mediated signalingGO:00480159.7PDGFB, PDGFRB
9response to organic cyclic compoundGO:00140709.7PDGFB, PDGFRB
10positive regulation of smooth muscle cell proliferationGO:00486619.6PDGFB, PDGFRB
11positive regulation of cell migrationGO:00303359.6PDGFB, PDGFRB
12positive regulation of MAP kinase activityGO:00434069.6PDGFB, PDGFRB
13response to estrogenGO:00436279.6PDGFB, PDGFRB
14viral entry into host cellGO:00467189.5SLC20A2, XPR1
15peptidyl-tyrosine phosphorylationGO:00181089.5PDGFB, PDGFRB
16positive regulation of ERK1 and ERK2 cascadeGO:00703749.5PDGFB, PDGFRB
17positive regulation of reactive oxygen species metabolic processGO:20003799.4PDGFB, PDGFRB
18response to estradiolGO:00323559.4PDGFB, PDGFRB
19positive regulation of smooth muscle cell migrationGO:00149119.3PDGFB, PDGFRB
20positive regulation of mitotic nuclear divisionGO:00458409.3PDGFB, PDGFRB
21cell chemotaxisGO:00603269.2PDGFB, PDGFRB
22wound healingGO:00420609.0PDGFB, 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:00051619.7PDGFB, PDGFRB
2platelet-derived growth factor bindingGO:00484079.3PDGFB, PDGFRB
3virus receptor activityGO:00016189.1SLC20A2, 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