MCID: PRM175
MIFTS: 35

Primary Familial Brain Calcification

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Primary Familial Brain Calcification

MalaCards integrated aliases for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 24 53 29
Idiopathic Basal Ganglia Calcification 1 53 29 6
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 53
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 53
Bilateral Striopallidodentate Calcinosis 53
Ferrocalcinosis, Cerebrovascular 53
Fahr's Syndrome 73
Bspdc 53

Characteristics:

GeneReviews:

24
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 : 53 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.

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, and has symptoms including athetosis, cerebellar ataxia and muscle rigidity. An important gene associated with Primary Familial Brain Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Development EGFR signaling via small GTPases and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain and skin, and related phenotype is immune system.

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 29.0 PDGFB PDGFRB SLC20A2 XPR1
2 basal ganglia calcification 29.0 PDGFB PDGFRB SLC20A2 XPR1
3 basal ganglia calcification, idiopathic, childhood-onset 11.9
4 apraxia 9.7
5 epilepsy 9.7
6 focal epilepsy 9.7
7 dermatofibrosarcoma protuberans 9.5 PDGFB PDGFRB
8 meningioma, familial 9.2 PDGFB PDGFRB

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:


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

MGI Mouse Phenotypes related to Primary Familial Brain Calcification:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 8.92 PDGFB PDGFRB SLC20A2 XPR1

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

Genetic tests related to Primary Familial Brain Calcification:

# Genetic test Affiliating Genes
1 Idiopathic Basal Ganglia Calcification 1 29 PDGFB PDGFRB SLC20A2
2 Primary Familial Brain Calcification 29

Anatomical Context for Primary Familial Brain Calcification

MalaCards organs/tissues related to Primary Familial Brain Calcification:

41
Brain, Skin

Publications for Primary Familial Brain Calcification

Articles related to Primary Familial Brain Calcification:

(show all 34)
# Title Authors Year
1
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. ( 29910000 )
2018
2
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant. ( 29680161 )
2018
3
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. ( 29152850 )
2018
4
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )
2018
5
Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia. ( 29801865 )
2018
6
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. ( 28722801 )
2017
7
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2. ( 28936702 )
2017
8
Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications. ( 28578517 )
2017
9
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. ( 28298627 )
2017
10
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification. ( 28766044 )
2017
11
Clinical and radiological diversity in genetically confirmed primary familial brain calcification. ( 28935882 )
2017
12
Microangiopathy in primary familial brain calcification: Evidence from skin biopsies. ( 28210710 )
2017
13
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. ( 27726124 )
2016
14
XPR1 mutations are a rare cause of primary familial brain calcification. ( 27230854 )
2016
15
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. ( 26860091 )
2016
16
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification. ( 26723961 )
2016
17
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. ( 27671522 )
2016
18
Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. ( 27862320 )
2016
19
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. ( 27984190 )
2016
20
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. ( 25686319 )
2015
21
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. ( 25726928 )
2015
22
Primary familial brain calcification: genetic analysis and clinical spectrum. ( 26094947 )
2015
23
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. ( 26231937 )
2015
24
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. ( 25832657 )
2015
25
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. ( 25958344 )
2015
26
A new gene for primary familial brain calcification: The importance of phosphate homeostasis. ( 26195350 )
2015
27
Primary familial brain calcification: update on molecular genetics. ( 25686613 )
2015
28
Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. ( 26599395 )
2015
29
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. ( 25938945 )
2015
30
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study. ( 25211641 )
2014
31
The genetics of primary familial brain calcifications. ( 25212438 )
2014
32
Primary familial brain calcification: Genetic analysis and clinical spectrum. ( 25284758 )
2014
33
An update on primary familial brain calcification. ( 24209445 )
2013
34
Primary Familial Brain Calcification ( 20301594 )
1993

Variations for Primary Familial Brain Calcification

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 21)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.6 PDGFB PDGFRB
2 positive regulation of protein kinase B signaling GO:0051897 9.59 PDGFB PDGFRB
3 positive regulation of MAPK cascade GO:0043410 9.58 PDGFB PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.58 PDGFB PDGFRB
5 viral entry into host cell GO:0046718 9.57 SLC20A2 XPR1
6 cell chemotaxis GO:0060326 9.56 PDGFB PDGFRB
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFB PDGFRB
8 positive regulation of MAP kinase activity GO:0043406 9.54 PDGFB PDGFRB
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.52 PDGFB PDGFRB
10 positive regulation of fibroblast proliferation GO:0048146 9.51 PDGFB PDGFRB
11 platelet-derived growth factor receptor signaling pathway GO:0048008 9.49 PDGFB PDGFRB
12 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFB PDGFRB
13 positive regulation of reactive oxygen species metabolic process GO:2000379 9.46 PDGFB PDGFRB
14 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFB PDGFRB
15 positive regulation of smooth muscle cell migration GO:0014911 9.4 PDGFB PDGFRB
16 positive regulation of calcium ion import GO:0090280 9.37 PDGFB PDGFRB
17 positive regulation of DNA biosynthetic process GO:2000573 9.32 PDGFB PDGFRB
18 positive regulation of chemotaxis GO:0050921 9.26 PDGFB PDGFRB
19 phosphate ion transmembrane transport GO:0035435 9.16 SLC20A2 XPR1
20 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 8.96 PDGFB PDGFRB
21 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 signaling receptor activity GO:0038023 9.37 SLC20A2 XPR1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.32 PDGFB PDGFRB
3 virus receptor activity GO:0001618 9.26 SLC20A2 XPR1
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 PDGFB PDGFRB
5 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
6 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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