BSPDC
MCID: FML043
MIFTS: 46

Familial Idiopathic Basal Ganglia Calcification (BSPDC) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Familial Idiopathic Basal Ganglia Calcification

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21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 33MalaCards
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NINDS:44 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: Familial Idiopathic Basal Ganglia Calcification, also known as bilateral striopallidodentate calcinosis, is related to frontotemporal dementia and dementia. An important gene associated with Familial Idiopathic Basal Ganglia Calcification is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2), and among its related pathways are Notch Pathway and Notch Signaling Pathways. The compounds s-182 and mrk 560 have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are other and vision/eye.

Genetics Home Reference:21 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:43 Familial idiopathic basal ganglia calcification (fibgc) 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), involuntary movements, muscle cramping. neuropsychiatric symptoms may include mild difficulty with concentration and memory, changes in personality behavior, or ) and dementia. seizures of various types frequently occur. symptoms typically start in an individual's 20's to 40's but may begin at any age.the neuropsychiatric symptoms and movement disorders worsen over time. mutations in the slc20a2 and pdgfrb genes have been found to cause fibgc, and this condition is inherited in an autosomal dominant manner. last updated: 10/18/2013

Aliases & Classifications for Familial Idiopathic Basal Ganglia Calcification

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43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

familial idiopathic basal ganglia calcification 43 21 44
bilateral striopallidodentate calcinosis 43 21
fibgc 43 21
cerebral calcification nonarteriosclerotic idiopathic adult-onset 43
striopallidodentate calcinosis autosomal dominant adult-onset 43
idiopathic basal ganglia calcification 1 43
primary familial brain calcification 43
ferrocalcinosis, cerebrovascular 43
cerebrovascular ferrocalcinosis 21
striopallidodentate calcinosis 21
fahr disease, familial 43
fahr's syndrome 62
ibgc1 43
bspdc 43


Related Diseases for Familial Idiopathic Basal Ganglia Calcification

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17GeneCards, 18GeneDecks
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Diseases in the Basal Ganglia Calcification, Idiopathic, 5 family:

familial idiopathic basal ganglia calcification Basal Ganglia Calcification, Idiopathic, 2
Basal Ganglia Calcification, Idiopathic, 4

Diseases related to Familial Idiopathic Basal Ganglia Calcification via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia30.5PSEN1, MAPT
2dementia30.3MAPT, PSEN2, PSEN1, APP
3calcinosis10.8
4primary familial brain calcification10.5
5dystonia10.4
6schizophrenia10.4
7basal ganglia cancification, idiopathic, 110.4
8primary familial brain calcification 110.3
9primary familial brain calcification 210.3
10primary familial brain calcification 310.3
11primary familial brain calcification 410.3
12hypoparathyroidism10.3
13migraine10.3
14psoriasis10.3
15idiopathic basal ganglia calcification childhood-onset10.3
16generalized pustular psoriasis10.3
17fahr's syndrome10.3
18syncope10.3
19semantic dementia10.1MAPT
20basal ganglia calcification, idiopathic, 410.0
21basal ganglia calcification, idiopathic, 510.0
22inclusion body myositis10.0MAPT, APP
23niemann-pick disease10.0APP, MAPT
24pick's disease10.0MAPT, PSEN1
25progressive supranuclear palsy10.0MAPT, APP
26lewy body dementia10.0MAPT, APP
27alzheimer disease type 110.0PSEN1, PSEN2, APP
28creutzfeldt-jakob disease10.0MAPT, APP
29hemorrhage, intracerebral10.0APP, PSEN2, PSEN1
30brain ischemia10.0APP, MAPT
31toxic encephalopathy10.0APP, MAPT
32cerebral amyloid angiopathy9.9MAPT, PSEN1, APP
33vascular dementia9.9MAPT, PSEN1, APP
34tauopathy9.9APP, PSEN1, MAPT
35memory impairment9.9MAPT, APP, PSEN1
36central nervous system disease9.9APP, MAPT
37myositis9.9PSEN1, MAPT, APP
38brain disease9.9APP, PSEN1, MAPT
39teratocarcinoma9.9APP, PSEN1, MAPT
40amyotrophic lateral sclerosis9.9APP, MAPT, PSEN1
41astrocytoma9.9PSEN1, APP, PSEN2
42parkinson's disease9.9MAPT, APP, PSEN1
43alzheimer disease type 29.9PSEN1, APP, PSEN2, MAPT
44amyloid tumor9.9PSEN2, MAPT, APP, PSEN1
45amyloidosis9.9MAPT, APP, PSEN1, PSEN2
46prion disease9.9PSEN2, MAPT, PSEN1, APP
47huntington's disease9.9MAPT, APP, PSEN1, PSEN2
48down syndrome9.9APP, MAPT, PSEN2, PSEN1
49malignant glioma9.9PSEN1, MAPT, APP, PSEN2
50alzheimer's disease9.9PSEN2, PSEN1, APP, MAPT

Graphical network of the top 20 diseases related to Familial Idiopathic Basal Ganglia Calcification:



Diseases related to familial idiopathic basal ganglia calcification

Symptoms for Familial Idiopathic Basal Ganglia Calcification

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Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Idiopathic Basal Ganglia Calcification

Search NIH Clinical Center for Familial Idiopathic Basal Ganglia Calcification

Genetic Tests for Familial Idiopathic Basal Ganglia Calcification

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Anatomical Context for Familial Idiopathic Basal Ganglia Calcification

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33MalaCards
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MalaCards organs/tissues related to Familial Idiopathic Basal Ganglia Calcification:

33
Brain, Eye, Cortex

Animal Models for Familial Idiopathic Basal Ganglia Calcification or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.9MAPT, PSEN1, APP
2MP:00053918.7SLC20A2, MAPT, PSEN2, PSEN1
3MP:00028738.5MAPT, PSEN2, PSEN1, APP
4MP:00107718.2APP, PSEN1, PSEN2, MAPT
5MP:00053788.0APP, PSEN1, PSEN2, MAPT, SLC20A2

Publications for Familial Idiopathic Basal Ganglia Calcification

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52PubMed
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Articles related to Familial Idiopathic Basal Ganglia Calcification:

(show all 20)
idTitleAuthorsYear
1
Psychosis revealing familial idiopathic basal ganglia calcification. (23122487)
2013
2
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
3
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
4
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
5
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. (23437308)
2013
6
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. (23406454)
2013
7
Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. (23934451)
2013
8
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. (24142081)
2013
9
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
10
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
11
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. (22988575)
2012
12
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. (22327515)
2012
13
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
14
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
15
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
16
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
17
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
18
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. (11810290)
2002
19
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
20
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Familial Idiopathic Basal Ganglia Calcification

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Idiopathic Basal Ganglia Calcification:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC20A2NM_006749.4(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
2SLC20A2NM_006749.4(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
3SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
4SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
5SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
6SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
7SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444

Expression for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

Search GEO for disease gene expression data for Familial Idiopathic Basal Ganglia Calcification.

Pathways for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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50PathCards, 61Tocris Bioscience, 54R&D Systems, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 5Cell Signaling Technology
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Pathways related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PSEN1, PSEN2
29.6PSEN2, PSEN1
3
Show member pathways
Development Notch Signaling Pathway60
Transcription Sin3 and NuRD in transcription regulation60
9.6PSEN2, PSEN1
4
Show member pathways
9.4PSEN1, APP
59.3APP, MAPT
69.0APP, PSEN1, PSEN2
7
Show member pathways
Delta-Notch Signaling Pathway38
Notch Signaling Pathway38
9.0APP, PSEN2, PSEN1
89.0PSEN1, APP, PSEN2
9
Show member pathways
Alzheimers Disease38
8.5MAPT, PSEN1, APP, PSEN2
108.5MAPT, PSEN1, APP, PSEN2
118.5APP, PSEN1, PSEN2, MAPT

Compounds for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1s-1824510.0PSEN1, PSEN2
2mrk 5606110.0PSEN1, PSEN2
3jlk 66110.0PSEN1, PSEN2
4begacestat6110.0PSEN1, PSEN2
5l-685,4586110.0PSEN1, PSEN2
6dapt6110.0PSEN1, PSEN2
7ab-42459.9APP, PSEN2
8ryanodine45 29 6111.8PSEN2, PSEN1
9spec-t459.8MAPT, PSEN1
10thioflavin459.7APP, MAPT
11thioflavine s459.7APP, MAPT
12tacrine45 1110.7APP, MAPT
13donepezil45 51 24 1112.7MAPT, APP
14vitamin b12459.7MAPT, PSEN1
15memantine45 29 51 1112.7MAPT, APP
16galantamine45 51 1111.7APP, MAPT
17formate459.6MAPT, APP
18biotin45 24 1111.6PSEN2, PSEN1
19valproate459.6APP, MAPT
20c2ceramide459.5MAPT, APP
21chloroquine45 3 51 29 1113.4MAPT, APP
22kainate45 2910.4PSEN1, MAPT
234-hydroxynonenal45 2410.3MAPT, PSEN1, APP
24carbachol45 29 1111.3APP, PSEN1, MAPT
25folate459.2MAPT, PSEN1, APP
26paclitaxel45 51 1111.2MAPT, PSEN2, APP
27cycloheximide459.2PSEN1, PSEN2, MAPT
28actinomycin d459.2APP, PSEN2, MAPT
29nmda45 2910.2APP, PSEN1, MAPT
30glutamine459.1MAPT, PSEN1, APP
31sodium dodecylsulfate459.0MAPT, APP
32cholesterol45 29 24 1112.0PSEN2, PSEN1, APP
33lactacystin458.9MAPT, PSEN2, PSEN1, APP
34choline45 24 1110.9APP, PSEN1, PSEN2, MAPT
35valine458.9MAPT, PSEN2, PSEN1, APP
36aspartate458.9APP, PSEN1, PSEN2, MAPT
37arginine458.9APP, PSEN1, MAPT, SLC20A2
38h2o2458.8MAPT, PSEN2, PSEN1, APP
39alanine458.8SLC20A2, MAPT, PSEN1, APP
40glutamate458.8APP, PSEN1, PSEN2, MAPT
41retinoic acid45 249.8MAPT, PSEN2, PSEN1, APP
42serine458.5SLC20A2, MAPT, PSEN2, PSEN1, APP

GO Terms for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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16Gene Ontology
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Cellular components related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:0007769.7PSEN2, PSEN1
2Z discGO:0300189.5PSEN2, PSEN1
3cell cortexGO:0059389.3PSEN2, PSEN1
4growth coneGO:0304269.3MAPT, PSEN2, PSEN1
5ciliary rootletGO:0352539.2PSEN2, PSEN1, APP
6dendritic shaftGO:0431989.2PSEN2, PSEN1, APP
7neuromuscular junctionGO:0315949.2PSEN2, PSEN1, APP
8cell surfaceGO:0099869.1APP, PSEN1, PSEN2
9perinuclear region of cytoplasmGO:0484719.0PSEN1, PSEN2, APP
10Golgi apparatusGO:0057949.0APP, PSEN2, PSEN1
11integral component of plasma membraneGO:0058878.8APP, PSEN1, PSEN2, SLC20A2
12axonGO:0304248.7PSEN2, MAPT, PSEN1, APP

Biological processes related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:05082010.0PSEN2, PSEN1
2myeloid leukocyte differentiationGO:00257310.0PSEN1, PSEN2
3endoplasmic reticulum calcium ion homeostasisGO:03246910.0PSEN2, PSEN1
4amyloid precursor protein catabolic processGO:04298710.0PSEN2, PSEN1
5beta-amyloid metabolic processGO:05043510.0PSEN2, PSEN1
6anagenGO:04264010.0PSEN2, PSEN1
7dorsal/ventral neural tube patterningGO:0219049.9PSEN1, PSEN2
8cell fate specificationGO:0017089.9PSEN2, PSEN1
9hematopoietic progenitor cell differentiationGO:0022449.9PSEN2, PSEN1
10brain morphogenesisGO:0488549.9PSEN2, PSEN1
11T cell activation involved in immune responseGO:0022869.9PSEN2, PSEN1
12membrane protein ectodomain proteolysisGO:0065099.9PSEN2, PSEN1
13Notch receptor processingGO:0072209.9PSEN2, PSEN1
14protein processingGO:0164859.9PSEN1, PSEN2
15regulation of synaptic plasticityGO:0481679.9PSEN2, PSEN1
16regulation of epidermal growth factor-activated receptor activityGO:0071769.8PSEN2, APP
17thymus developmentGO:0485389.8PSEN2, PSEN1
18smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.8PSEN1, APP
19somitogenesisGO:0017569.8PSEN1, PSEN2
20embryonic limb morphogenesisGO:0303269.8PSEN2, PSEN1
21memoryGO:0076139.7PSEN2, PSEN1
22regulation of protein bindingGO:0433939.7APP, PSEN1
23axon cargo transportGO:0080889.7MAPT, APP
24neuron apoptotic processGO:0514029.6PSEN1, APP
25calcium ion transportGO:0068169.6PSEN1, PSEN2
26T cell receptor signaling pathwayGO:0508529.5PSEN2, PSEN1
27forebrain developmentGO:0309009.5PSEN2, APP
28neuron migrationGO:0017649.5MAPT, PSEN1
29positive regulation of catalytic activityGO:0430859.5CTAGE5, PSEN2, PSEN1
30Notch signaling pathwayGO:0072199.3APP, PSEN1, PSEN2
31response to oxidative stressGO:0069799.1PSEN1, APP

Molecular functions related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:0041759.6PSEN2, PSEN1
2aspartic-type endopeptidase activityGO:0041909.3PSEN2, PSEN1

Products for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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Sources for Familial Idiopathic Basal Ganglia Calcification

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet