MCID: PRM175
MIFTS: 32

Primary Familial Brain Calcification

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Primary Familial Brain Calcification

MalaCards integrated aliases for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 23 49
Idiopathic Basal Ganglia Calcification 1 49 28
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 49
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 49
Bilateral Striopallidodentate Calcinosis 49
Ferrocalcinosis, Cerebrovascular 49
Fahr's Syndrome 69
Bspdc 49

Characteristics:

GeneReviews:

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

Classifications:



Summaries for Primary Familial Brain Calcification

NIH Rare Diseases : 49 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

MalaCards based summary : Primary Familial Brain Calcification, also known as idiopathic basal ganglia calcification 1, is related to basal ganglia calcification, idiopathic, 1 and basal ganglia calcification, idiopathic, childhood-onset, and has symptoms including dysdiadochokinesis, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Jak-STAT signaling pathway (KEGG) and Development EGFR signaling via small GTPases. Affiliated tissues include brain and skin.

GeneReviews: NBK1421

Related Diseases for Primary Familial Brain Calcification

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

# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification, idiopathic, 1 30.1 PDGFB PDGFRB SLC20A2 XPR1
2 basal ganglia calcification, idiopathic, childhood-onset 11.9
3 basal ganglia calcification, idiopathic, 2 9.9
4 epilepsy 9.7
5 focal epilepsy 9.7
6 dermatofibrosarcoma protuberans 9.7 PDGFB PDGFRB
7 meningioma, familial 9.5 PDGFB PDGFRB
8 basal ganglia calcification 8.7 PDGFB PDGFRB SLC20A2 XPR1

Graphical network of the top 20 diseases related to Primary Familial Brain Calcification:



Diseases related to Primary Familial Brain Calcification

Symptoms & Phenotypes for Primary Familial Brain Calcification

UMLS symptoms related to Primary Familial Brain Calcification:


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

Drugs & Therapeutics for Primary Familial Brain Calcification

Search Clinical Trials , NIH Clinical Center for Primary Familial Brain Calcification

Genetic Tests for Primary Familial Brain Calcification

Anatomical Context for Primary Familial Brain Calcification

MalaCards organs/tissues related to Primary Familial Brain Calcification:

38
Brain, Skin

Publications for Primary Familial Brain Calcification

Articles related to Primary Familial Brain Calcification:

(show all 30)
# Title Authors Year
1
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )
2018
2
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. ( 29152850 )
2018
3
Microangiopathy in primary familial brain calcification: Evidence from skin biopsies. ( 28210710 )
2017
4
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. ( 28722801 )
2017
5
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2. ( 28936702 )
2017
6
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification. ( 28766044 )
2017
7
Clinical and radiological diversity in genetically confirmed primary familial brain calcification. ( 28935882 )
2017
8
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. ( 28298627 )
2017
9
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. ( 26860091 )
2016
10
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. ( 26723961 )
2016
11
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. ( 27671522 )
2016
12
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. ( 27726124 )
2016
13
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. ( 27862320 )
2016
14
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. ( 27984190 )
2016
15
XPR1 mutations are a rare cause of primary familial brain calcification. ( 27230854 )
2016
16
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. ( 25832657 )
2015
17
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. ( 26599395 )
2015
18
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. ( 25686319 )
2015
19
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. ( 26231937 )
2015
20
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. ( 25938945 )
2015
21
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. ( 25726928 )
2015
22
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. ( 25958344 )
2015
23
Primary familial brain calcification: genetic analysis and clinical spectrum. ( 26094947 )
2015
24
Primary familial brain calcification: update on molecular genetics. ( 25686613 )
2015
25
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. ( 26195350 )
2015
26
The genetics of primary familial brain calcifications. ( 25212438 )
2014
27
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. ( 25211641 )
2014
28
Primary familial brain calcification: Genetic analysis and clinical spectrum. ( 25284758 )
2014
29
An update on primary familial brain calcification. ( 24209445 )
2013
30
Primary Familial Brain Calcification ( 20301594 )
1993

Variations for Primary Familial Brain Calcification

ClinVar genetic disease variations for Primary Familial Brain Calcification:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC20A2 SLC20A2, GLY498ARG single nucleotide variant Pathogenic
2 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> G (p.Ser601Trp) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
3 SLC20A2 NM_001257180.1(SLC20A2): c.1802C> T (p.Ser601Leu) single nucleotide variant Pathogenic rs387906652 GRCh37 Chromosome 8, 42275478: 42275478
4 SLC20A2 NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys) single nucleotide variant Pathogenic rs387906653 GRCh37 Chromosome 8, 42286347: 42286347
5 SLC20A2 NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met) single nucleotide variant Pathogenic rs387906654 GRCh37 Chromosome 8, 42286286: 42286286
6 SLC20A2 NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs) deletion Pathogenic rs398122396 GRCh37 Chromosome 8, 42275449: 42275452
7 SLC20A2 NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs) deletion Pathogenic rs398122397 GRCh37 Chromosome 8, 42317443: 42317444
8 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh37 Chromosome 8, 42320530: 42320530

Expression for Primary Familial Brain Calcification

Search GEO for disease gene expression data for Primary Familial Brain Calcification.

Pathways for Primary Familial Brain Calcification

GO Terms for Primary Familial Brain Calcification

Cellular components related to Primary Familial Brain Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 PDGFRB XPR1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.59 PDGFB PDGFRB
2 positive regulation of protein kinase B signaling GO:0051897 9.58 PDGFB PDGFRB
3 phosphatidylinositol phosphorylation GO:0046854 9.58 PDGFB PDGFRB
4 viral entry into host cell GO:0046718 9.57 SLC20A2 XPR1
5 cell chemotaxis GO:0060326 9.56 PDGFB PDGFRB
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFB PDGFRB
7 positive regulation of MAP kinase activity GO:0043406 9.54 PDGFB PDGFRB
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.52 PDGFB PDGFRB
9 positive regulation of fibroblast proliferation GO:0048146 9.51 PDGFB PDGFRB
10 platelet-derived growth factor receptor signaling pathway GO:0048008 9.49 PDGFB PDGFRB
11 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFB PDGFRB
12 positive regulation of reactive oxygen species metabolic process GO:2000379 9.46 PDGFB PDGFRB
13 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFB PDGFRB
14 positive regulation of smooth muscle cell migration GO:0014911 9.4 PDGFB PDGFRB
15 phosphate ion transmembrane transport GO:0035435 9.37 SLC20A2 XPR1
16 positive regulation of calcium ion import GO:0090280 9.32 PDGFB PDGFRB
17 positive regulation of DNA biosynthetic process GO:2000573 9.26 PDGFB PDGFRB
18 positive regulation of chemotaxis GO:0050921 9.16 PDGFB PDGFRB
19 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 8.96 PDGFB PDGFRB
20 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.62 PDGFB PDGFRB

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.32 PDGFB PDGFRB
2 virus receptor activity GO:0001618 9.26 SLC20A2 XPR1
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 PDGFB PDGFRB
4 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
5 platelet-derived growth factor binding GO:0048407 8.62 PDGFB PDGFRB

Sources for Primary Familial Brain Calcification

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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