PFBC
MCID: PRM175
MIFTS: 45

Primary Familial Brain Calcification (PFBC) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Primary Familial Brain Calcification

Aliases & Descriptions for Primary Familial Brain Calcification:

Name: Primary Familial Brain Calcification 23 50 24 56
Familial Idiopathic Basal Ganglia Calcification 24 25 51
Bilateral Striopallidodentate Calcinosis 50 25 56
Idiopathic Basal Ganglia Calcification 1 50 29
Cerebrovascular Ferrocalcinosis 25 56
Bspdc 50 56
Fibgc 24 25
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 50
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 50
Basal Ganglia Calcification, Idiopathic 13
Idiopathic Basal Ganglia Calcification 56
Ferrocalcinosis, Cerebrovascular 50
Striopallidodentate Calcinosis 25
Fahr's Syndrome 69
Pfbc 56

Characteristics:

Orphanet epidemiological data:

56
bilateral striopallidodentate calcinosis
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:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA1980
UMLS via Orphanet 70 C0393590
ICD10 via Orphanet 34 G23.8

Summaries for Primary Familial Brain Calcification

NINDS : 51 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 seizures, cerebral calcification and hepatomegaly. 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. The drugs Mitogens and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotype is immune system.

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.

NIH Rare Diseases : 50 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: NBK1421

Related Diseases for Primary Familial Brain Calcification

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

Human phenotypes related to Primary Familial Brain Calcification:

56 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 Very frequent (99-80%)
2 cerebral calcification 56 Very frequent (99-80%)
3 hepatomegaly 56 Very frequent (99-80%)
4 corneal opacity 56 Frequent (79-30%)
5 microcephaly 56 Very frequent (99-80%)
6 thrombocytopenia 56 Very frequent (99-80%)
7 ventriculomegaly 56 Very frequent (99-80%)
8 abnormality of neuronal migration 56 Very frequent (99-80%)
9 intrauterine growth retardation 56 Very frequent (99-80%)
10 subcutaneous hemorrhage 56 Very frequent (99-80%)
11 abnormality of the liver 56 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:

44
id 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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens
2 Trace Elements
3 Vitamins
4 Micronutrients
5 Soy Bean Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Natural History Study of HIV Acquired in Infancy or Childhood Completed NCT00924365
2 Locally Prepared Supplement to Support Growth and Brain Health Recruiting NCT03017209
3 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Recruiting NCT02428673
4 Detection and Treatment of Endocrine Abnormalities in Childhood Cancer Survivors and Hematopoietic Stem Cell Transplant Recipients Recruiting NCT00504218

Search NIH Clinical Center for Primary Familial Brain Calcification

Genetic Tests for Primary Familial Brain Calcification

Genetic tests related to Primary Familial Brain Calcification:

id Genetic test Affiliating Genes
1 Idiopathic Basal Ganglia Calcification 1 29
2 Primary Familial Brain Calcification 24 SLC20A2

Anatomical Context for Primary Familial Brain Calcification

MalaCards organs/tissues related to Primary Familial Brain Calcification:

39
Brain, Eye, Cortex, Liver, Skin

Publications for Primary Familial Brain Calcification

Articles related to Primary Familial Brain Calcification:

(show all 24)
id Title Authors Year
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

ClinVar genetic disease variations for Primary Familial Brain Calcification:

6
id 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 CHRNA6; CHRNB3; FNTA; HOOK3; RNF170; SLC20A2; SMIM19; THAP1 NC_000008.10: g.42338721_42916885del578165 deletion Likely pathogenic GRCh37 Chromosome 8, 42338721: 42916885
9 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:

id 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 23)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.61 PDGFB PDGFRB
2 positive regulation of cell migration GO:0030335 9.61 PDGFB PDGFRB
3 peptidyl-tyrosine phosphorylation GO:0018108 9.6 PDGFB PDGFRB
4 phosphatidylinositol-mediated signaling GO:0048015 9.59 PDGFB PDGFRB
5 phosphatidylinositol phosphorylation GO:0046854 9.58 PDGFB PDGFRB
6 viral entry into host cell GO:0046718 9.58 SLC20A2 XPR1
7 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.57 PDGFB PDGFRB
8 cell chemotaxis GO:0060326 9.56 PDGFB PDGFRB
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFB PDGFRB
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.54 PDGFB PDGFRB
11 positive regulation of MAP kinase activity GO:0043406 9.52 PDGFB PDGFRB
12 positive regulation of fibroblast proliferation GO:0048146 9.51 PDGFB PDGFRB
13 positive regulation of reactive oxygen species metabolic process GO:2000379 9.49 PDGFB PDGFRB
14 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFB PDGFRB
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.46 PDGFB PDGFRB
16 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFB PDGFRB
17 positive regulation of smooth muscle cell migration GO:0014911 9.4 PDGFB PDGFRB
18 phosphate ion transmembrane transport GO:0035435 9.37 SLC20A2 XPR1
19 positive regulation of calcium ion import GO:0090280 9.32 PDGFB PDGFRB
20 positive regulation of DNA biosynthetic process GO:2000573 9.26 PDGFB PDGFRB
21 positive regulation of chemotaxis GO:0050921 9.16 PDGFB PDGFRB
22 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 8.96 PDGFB PDGFRB
23 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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