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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 47NIH Rare Diseases, 48NINDS, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 23 47 24 53
Familial Idiopathic Basal Ganglia Calcification 24 25 48
Bilateral Striopallidodentate Calcinosis 47 25 53
Idiopathic Basal Ganglia Calcification 1 47 26
Cerebrovascular Ferrocalcinosis 25 53
Bspdc 47 53
Fibgc 24 25
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 47
 
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 47
Basal Ganglia Calcification, Idiopathic 12
Idiopathic Basal Ganglia Calcification 53
Ferrocalcinosis, Cerebrovascular 47
Striopallidodentate Calcinosis 25
Fahr's Syndrome 67
Pfbc 53

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA1980
UMLS via Orphanet68 C0393590
ICD10 via Orphanet30 G23.8

Summaries for Primary Familial Brain Calcification

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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.

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 Array, Array and Array. 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, cortex and liver.

NINDS:48 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,

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 for Primary Familial Brain Calcification

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Human phenotypes related to Primary Familial Brain Calcification:

 53 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly53 Very frequent (99-80%)
2 seizures53 Very frequent (99-80%)
3 abnormality of the liver53 Frequent (79-30%)
4 intrauterine growth retardation53 Very frequent (99-80%)
5 thrombocytopenia53 Very frequent (99-80%)
6 subcutaneous hemorrhage53 Very frequent (99-80%)
7 ventriculomegaly53 Very frequent (99-80%)
8 hepatomegaly53 Very frequent (99-80%)
9 abnormality of neuronal migration53 Very frequent (99-80%)
10 cerebral calcification53 Very frequent (99-80%)
11 corneal opacity53 Frequent (79-30%)

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Mitogens1526
2Vitamins5095
3Trace Elements5802
4Micronutrients5802
5Soy BeanNutraceutical535

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 126
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:

35
Brain, 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 22)
idTitleAuthorsYear
1
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. (26723961)
2016
2
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. (27671522)
2016
3
XPR1 mutations are a rare cause of primary familial brain calcification. (27230854)
2016
4
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. (26860091)
2016
5
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. (27984190)
2016
6
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. (27862320)
2016
7
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. (27726124)
2016
8
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
9
Primary familial brain calcification: update on molecular genetics. (25686613)
2015
10
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. (25686319)
2015
11
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. (26231937)
2015
12
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. (26195350)
2015
13
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. (26599395)
2015
14
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (25938945)
2015
15
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. (25958344)
2015
16
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (25832657)
2015
17
Primary familial brain calcification: genetic analysis and clinical spectrum. (26094947)
2015
18
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. (25211641)
2014
19
The genetics of primary familial brain calcifications. (25212438)
2014
20
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
21
An update on primary familial brain calcification. (24209445)
2013
22
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
1SLC20A2NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320530: 42320530
2SLC20A2SLC20A2, GLY498ARGSNVPathogenicChr na, -1: -1
3SLC20A2NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp)SNVPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
4SLC20A2NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu)SNVPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
5SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)SNVPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
6SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)SNVPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
7SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
8SLC20A2NM_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 25)
idNameGO IDScoreTop Affiliating Genes
1phosphate ion transmembrane transportGO:003543510.0SLC20A2, XPR1
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:00357939.7PDGFB, PDGFRB
3positive regulation of smooth muscle cell migrationGO:00149119.6PDGFB, PDGFRB
4positive regulation of chemotaxisGO:00509219.6PDGFB, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6PDGFB, PDGFRB
6phosphatidylinositol phosphorylationGO:00468549.6PDGFB, PDGFRB
7regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6PDGFB, PDGFRB
8positive regulation of reactive oxygen species metabolic processGO:20003799.6PDGFB, PDGFRB
9platelet-derived growth factor receptor signaling pathwayGO:00480089.5PDGFB, PDGFRB
10phosphatidylinositol-mediated signalingGO:00480159.5PDGFB, PDGFRB
11positive regulation of smooth muscle cell proliferationGO:00486619.5PDGFB, PDGFRB
12positive regulation of calcium ion importGO:00902809.4PDGFB, PDGFRB
13viral entry into host cellGO:00467189.4SLC20A2, XPR1
14positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4PDGFB, PDGFRB
15positive regulation of fibroblast proliferationGO:00481469.4PDGFB, PDGFRB
16peptidyl-tyrosine phosphorylationGO:00181089.4PDGFB, PDGFRB
17response to estrogenGO:00436279.3PDGFB, PDGFRB
18positive regulation of DNA biosynthetic processGO:20005739.3PDGFB, PDGFRB
19positive regulation of MAP kinase activityGO:00434069.3PDGFB, PDGFRB
20cell chemotaxisGO:00603269.2PDGFB, PDGFRB
21wound healingGO:00420609.2PDGFB, PDGFRB
22response to estradiolGO:00323559.1PDGFB, PDGFRB
23positive regulation of mitotic nuclear divisionGO:00458409.0PDGFB, PDGFRB
24positive regulation of cell migrationGO:00303358.9PDGFB, PDGFRB
25positive regulation of ERK1 and ERK2 cascadeGO:00703748.7PDGFB, 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:00051619.5PDGFB, PDGFRB
2virus receptor activityGO:00016189.4SLC20A2, XPR1
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.4PDGFB, PDGFRB
4platelet-derived growth factor bindingGO:00484079.2PDGFB, PDGFRB
5Ras guanyl-nucleotide exchange factor activityGO:00050888.7PDGFB, PDGFRB

Sources for Primary Familial Brain Calcification

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet