PFBC
MCID: PRM175
MIFTS: 45

Primary Familial Brain Calcification (PFBC) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primary Familial Brain Calcification

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Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 49NINDS, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 23 48 24 54
Familial Idiopathic Basal Ganglia Calcification 24 25 49
Bilateral Striopallidodentate Calcinosis 48 25 54
Idiopathic Basal Ganglia Calcification 1 48 27
Cerebrovascular Ferrocalcinosis 25 54
Bspdc 48 54
Fibgc 24 25
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 48
 
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 48
Basal Ganglia Calcification, Idiopathic 12
Idiopathic Basal Ganglia Calcification 54
Ferrocalcinosis, Cerebrovascular 48
Striopallidodentate Calcinosis 25
Fahr's Syndrome 68
Pfbc 54

Characteristics:

Orphanet epidemiological data:

54
primary familial brain calcification:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

GeneReviews:

23
Penetrance: incomplete and age-related penetrance is reported in pfbc, but the factors that influence the clinical manifestations are unknown. the degree of penetrance may depend on whether affectation is considered at an anatomic level (presence of calcifications in the brain) or at a clinical level (presence of clinical symptoms). ...


Classifications:



External Ids:

Orphanet54 ORPHA1980
UMLS via Orphanet69 C0393590
ICD10 via Orphanet31 G23.8

Summaries for Primary Familial Brain Calcification

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NINDS:49 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, 4 and basal ganglia calcification, idiopathic, 6, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Development EGFR signaling via small GTPases. Affiliated tissues include brain, eye and cortex, and related mouse phenotype immune system.

NIH Rare Diseases:48 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

Genetics Home Reference:25 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.

GeneReviews 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 & Phenotypes for Primary Familial Brain Calcification

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Human phenotypes related to Primary Familial Brain Calcification:

 54 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly54 Very frequent (99-80%)
2 seizures54 Very frequent (99-80%)
3 abnormality of the liver54 Frequent (79-30%)
4 intrauterine growth retardation54 Very frequent (99-80%)
5 thrombocytopenia54 Very frequent (99-80%)
6 subcutaneous hemorrhage54 Very frequent (99-80%)
7 ventriculomegaly54 Very frequent (99-80%)
8 hepatomegaly54 Very frequent (99-80%)
9 abnormality of neuronal migration54 Very frequent (99-80%)
10 cerebral calcification54 Very frequent (99-80%)
11 corneal opacity54 Frequent (79-30%)

UMLS symptoms related to Primary Familial Brain Calcification:


athetosis, cerebellar ataxia, muscle rigidity, tremor, bradykinesia, abnormality of extrapyramidal motor function, dysdiadochokinesis

MGI Mouse Phenotypes related to Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0PDGFB, PDGFRB, SLC20A2, XPR1

Drugs & Therapeutics for Primary Familial Brain Calcification

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Drugs for Primary Familial Brain Calcification (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Mitogens1617
2Vitamins5282
3Trace Elements6001
4Micronutrients6001
5Soy BeanNutraceutical554

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of HIV Acquired in Infancy or ChildhoodCompletedNCT00924365
2Locally Prepared Supplement to Support Growth and Brain HealthRecruitingNCT03017209
3Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsRecruitingNCT02428673
4Detection and Treatment of Endocrine Abnormalities in Childhood Cancer Survivors and Hematopoietic Stem Cell Transplant RecipientsRecruitingNCT00504218

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 127
2 Primary Familial Brain Calcification24 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

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MalaCards organs/tissues related to Primary Familial Brain Calcification:

36
Brain, Eye, Cortex, Liver, Skin

Publications for Primary Familial Brain Calcification

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Articles related to Primary Familial Brain Calcification:

(show all 24)
idTitleAuthorsYear
1
Microangiopathy in primary familial brain calcification: Evidence from skin biopsies. (28210710)
2017
2
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. (28298627)
2017
3
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. (27726124)
2016
4
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. (27984190)
2016
5
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. (26860091)
2016
6
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. (27671522)
2016
7
XPR1 mutations are a rare cause of primary familial brain calcification. (27230854)
2016
8
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. (27862320)
2016
9
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. (26723961)
2016
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
Primary familial brain calcification: update on molecular genetics. (25686613)
2015
13
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. (26231937)
2015
14
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. (25686319)
2015
15
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
16
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. (26195350)
2015
17
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
18
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. (26599395)
2015
19
Primary familial brain calcification: genetic analysis and clinical spectrum. (26094947)
2015
20
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. (25211641)
2014
21
The genetics of primary familial brain calcifications. (25212438)
2014
22
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
23
An update on primary familial brain calcification. (24209445)
2013
24
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
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNA6; CHRNB3; FNTA; HOOK3; RNF170; SLC20A2; SMIM19; THAP1NC_ 000008.10: g.42338721_ 42916885del578165deletionLikely pathogenicGRCh37Chr 8, 42338721: 42916885
2SLC20A2NM_ 006749.4(SLC20A2): c.509delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320530: 42320530
3SLC20A2SLC20A2, GLY498ARGSNVPathogenic
4SLC20A2NM_ 001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp)SNVPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
5SLC20A2NM_ 001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu)SNVPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
6SLC20A2NM_ 006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)SNVPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
7SLC20A2NM_ 006749.4(SLC20A2): c.1784C> T (p.Thr595Met)SNVPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
8SLC20A2NM_ 006749.4(SLC20A2): c.1828_ 1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
9SLC20A2NM_ 006749.4(SLC20A2): c.583_ 584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444

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:00312269.3PDGFRB, XPR1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1phosphate ion transmembrane transportGO:003543510.1SLC20A2, XPR1
2cell chemotaxisGO:00603269.8PDGFB, PDGFRB
3negative regulation of platelet-derived growth factor receptor-beta signaling pathwayGO:20005879.7PDGFB, PDGFRB
4peptidyl-tyrosine phosphorylationGO:00181089.7PDGFB, PDGFRB
5phosphatidylinositol phosphorylationGO:00468549.7PDGFB, PDGFRB
6phosphatidylinositol-mediated signalingGO:00480159.7PDGFB, PDGFRB
7platelet-derived growth factor receptor signaling pathwayGO:00480089.7PDGFB, PDGFRB
8positive regulation of calcium ion importGO:00902809.7PDGFB, PDGFRB
9positive regulation of cell migrationGO:00303359.7PDGFB, PDGFRB
10positive regulation of chemotaxisGO:00509219.7PDGFB, PDGFRB
11positive regulation of DNA biosynthetic processGO:20005739.7PDGFB, PDGFRB
12positive regulation of ERK1 and ERK2 cascadeGO:00703749.7PDGFB, PDGFRB
13positive regulation of fibroblast proliferationGO:00481469.7PDGFB, PDGFRB
14positive regulation of MAP kinase activityGO:00434069.7PDGFB, PDGFRB
15positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:00357939.7PDGFB, PDGFRB
16positive regulation of mitotic nuclear divisionGO:00458409.7PDGFB, PDGFRB
17positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7PDGFB, PDGFRB
18positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6PDGFB, PDGFRB
19positive regulation of reactive oxygen species metabolic processGO:20003799.6PDGFB, PDGFRB
20positive regulation of smooth muscle cell migrationGO:00149119.6PDGFB, PDGFRB
21positive regulation of smooth muscle cell proliferationGO:00486619.6PDGFB, PDGFRB
22regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5PDGFB, PDGFRB
23viral entry into host cellGO:00467189.4SLC20A2, XPR1

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6PDGFB, PDGFRB
2platelet-derived growth factor bindingGO:00484079.6PDGFB, PDGFRB
3platelet-derived growth factor receptor bindingGO:00051619.6PDGFB, PDGFRB
4Ras guanyl-nucleotide exchange factor activityGO:00050889.5PDGFB, PDGFRB
5virus receptor activityGO:00016189.4SLC20A2, XPR1

Sources for Primary Familial Brain Calcification

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet