BSPDC
MCID: FML043
MIFTS: 38

Familial Idiopathic Basal Ganglia Calcification (BSPDC) malady

Genetic category

Summaries for Familial Idiopathic Basal Ganglia Calcification

Sources:
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 basal ganglia disease. 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 Development MAG-dependent inhibition of neurite outgrowth and Notch Pathway. The compounds s-182 and begacestat have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related mouse phenotypes are vision/eye and other.

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

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial idiopathic basal ganglia calcification 43 21 44
bilateral striopallidodentate calcinosis 43 21
cerebral calcification nonarteriosclerotic idiopathic adult-onset 43
ferrocalcinosis, cerebrovascular 43
cerebrovascular ferrocalcinosis 21
striopallidodentate calcinosis 21
fahr disease, familial 43
fahr's syndrome 61
fibgc 21
bspdc 43


Related Diseases for Familial Idiopathic Basal Ganglia Calcification

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

basal ganglia calcification, idiopathic, 2 basal ganglia calcification, idiopathic, 4
basal ganglia calcification, idiopathic, 5 basal ganglia calcification, idiopathic, 3

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia30.4PSEN1, MAPT
2basal ganglia disease10.7
3paroxysmal dyskinesia10.5
4idiopathic familial dystonia10.4
5fahr's syndrome10.4
6basal ganglia cancification, idiopathic, 110.4
7hypoparathyroidism10.3
8idiopathic basal ganglia calcification childhood-onset10.3
9generalized pustular psoriasis10.3
10syncope10.3
11prion disease10.0PSEN1
12lewy body dementia10.0MAPT
13aphasia10.0MAPT
14scrapie10.0MAPT
15apraxia10.0MAPT
16inclusion body myositis10.0MAPT, APP
17niemann-pick disease10.0MAPT, APP
18parkinson's disease10.0MAPT
19progressive supranuclear palsy10.0MAPT, APP
20creutzfeldt-jakob syndrome10.0APP, MAPT
21alzheimer disease type 110.0APP, PSEN1, PSEN2
22hemorrhage, intracerebral10.0PSEN1, APP, PSEN2
23central nervous system disease10.0APP, MAPT
24cerebral amyloid angiopathy10.0APP, PSEN1, MAPT
25vascular dementia10.0MAPT, PSEN1, APP
26tauopathy10.0MAPT, PSEN1, APP
27memory impairment10.0PSEN1, MAPT, APP
28brain disease10.0APP, PSEN1, MAPT
29pick's disease10.0APP, PSEN1, MAPT
30amyotrophic lateral sclerosis10.0APP, PSEN1, MAPT
31teratocarcinoma10.0APP, PSEN1, MAPT
32myositis10.0APP, PSEN1, MAPT
33alzheimer disease type 210.0PSEN2, MAPT, APP, PSEN1
34amyloid tumor10.0APP, PSEN1, PSEN2, MAPT
35huntington's disease10.0PSEN2, APP, MAPT, PSEN1
36amyloidosis10.0MAPT, PSEN2, APP, PSEN1
37dementia10.0APP, PSEN2, PSEN1, MAPT
38down syndrome10.0PSEN1, PSEN2, MAPT, APP
39malignant glioma10.0MAPT, PSEN2, PSEN1, APP

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



Diseases related to familial idiopathic basal ganglia calcification

Clinical Features for Familial Idiopathic Basal Ganglia Calcification

Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Idiopathic Basal Ganglia Calcification

Anatomical Context for Familial Idiopathic Basal Ganglia Calcification

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

33
Brain, Cortex

Animal Models for Familial Idiopathic Basal Ganglia Calcification or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7SLC20A2, MAPT, PSEN2, PSEN1
2MP:00053958.6MAPT, PSEN1, APP

Publications for Familial Idiopathic Basal Ganglia Calcification

Sources:
51PubMed
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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

Genetic Variations for Familial Idiopathic Basal Ganglia Calcification

Expression for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

Sources:
1BioGPS, 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

Sources:
12EMD Millipore, 60Tocris Bioscience, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 52QIAGEN, 4Cell Signaling Technology, 54Reactome
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Compounds for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
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Compounds related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1s-1824510.0PSEN2, PSEN1
2begacestat6010.0PSEN1, PSEN2
3jlk 66010.0PSEN2, PSEN1
4mrk 5606010.0PSEN2, PSEN1
5l-685,4586010.0PSEN1, PSEN2
6dapt6010.0PSEN1, PSEN2
7ab-42459.8PSEN2, APP
8thioflavin459.7APP, MAPT
9thioflavine s459.7APP, MAPT
10tacrine45 1110.7MAPT, APP
11donepezil45 11 2411.7APP, MAPT
12memantine45 29 1111.7MAPT, APP
13spec-t459.6MAPT, PSEN1
14galantamine45 50 1111.6APP, MAPT
15ryanodine45 29 6011.5PSEN1, PSEN2
16formate459.5APP, MAPT
17valproate459.4MAPT, APP
18c2ceramide459.3MAPT, APP
194-hydroxynonenal45 2410.2MAPT, PSEN1, APP
20carbachol45 29 1111.2MAPT, PSEN1, APP
21vitamin b12459.2MAPT, PSEN1
22folate459.2APP, PSEN1, MAPT
23paclitaxel45 50 1111.1APP, PSEN2, MAPT
24nmda45 2910.1MAPT, PSEN1, APP
25actinomycin d459.0APP, PSEN2, MAPT
26lactacystin458.9MAPT, PSEN2, PSEN1, APP
27glutamine458.9MAPT, PSEN1, APP
28choline45 11 2410.9APP, PSEN1, PSEN2, MAPT
29valine458.9APP, PSEN1, PSEN2, MAPT
30aspartate458.8APP, PSEN1, PSEN2, MAPT
31h2o2458.8MAPT, PSEN2, PSEN1, APP
32arginine458.8SLC20A2, MAPT, PSEN1, APP
33alanine458.8APP, PSEN1, MAPT, SLC20A2
34glutamate458.7APP, PSEN1, PSEN2, MAPT
35retinoic acid45 249.7MAPT, PSEN2, PSEN1, APP
36serine458.4SLC20A2, MAPT, PSEN2, PSEN1, APP

GO Terms for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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

idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:0007769.3PSEN2, PSEN1
2ciliary rootletGO:0352539.2PSEN2, PSEN1, APP
3growth coneGO:0304269.2PSEN1, PSEN2, MAPT
4dendritic shaftGO:0431989.1APP, PSEN1, PSEN2
5neuromuscular junctionGO:0315949.1PSEN2, PSEN1, APP
6perinuclear region of cytoplasmGO:0484719.0PSEN2, PSEN1, APP
7cell surfaceGO:0099868.9APP, PSEN1, PSEN2
8axonGO:0304248.6MAPT, PSEN2, PSEN1, APP
9integral to plasma membraneGO:0058878.6SLC20A2, PSEN2, PSEN1, APP

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:05082010.0PSEN2, PSEN1
2myeloid leukocyte differentiationGO:00257310.0PSEN2, PSEN1
3T cell activation involved in immune responseGO:00228610.0PSEN1, PSEN2
4endoplasmic reticulum calcium ion homeostasisGO:03246910.0PSEN2, PSEN1
5amyloid precursor protein catabolic processGO:0429879.9PSEN2, PSEN1
6beta-amyloid metabolic processGO:0504359.9PSEN2, PSEN1
7anagenGO:0426409.9PSEN2, PSEN1
8brain morphogenesisGO:0488549.9PSEN1, PSEN2
9dorsal/ventral neural tube patterningGO:0219049.9PSEN2, PSEN1
10hematopoietic progenitor cell differentiationGO:0022449.9PSEN1, PSEN2
11cell fate specificationGO:0017089.9PSEN1, PSEN2
12Notch receptor processingGO:0072209.9PSEN2, PSEN1
13membrane protein ectodomain proteolysisGO:0065099.8PSEN2, PSEN1
14regulation of epidermal growth factor-activated receptor activityGO:0071769.8APP, PSEN2
15regulation of synaptic plasticityGO:0481679.8PSEN1, PSEN2
16smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.8PSEN1, APP
17protein processingGO:0164859.8PSEN2, PSEN1
18thymus developmentGO:0485389.7PSEN2, PSEN1
19somitogenesisGO:0017569.7PSEN2, PSEN1
20axon cargo transportGO:0080889.6MAPT, APP
21embryonic limb morphogenesisGO:0303269.6PSEN1, PSEN2
22calcium ion transportGO:0068169.6PSEN2, PSEN1
23neuron apoptotic processGO:0514029.6APP, PSEN1
24memoryGO:0076139.5PSEN2, PSEN1
25positive regulation of catalytic activityGO:0430859.5PSEN1, PSEN2, CTAGE5
26regulation of protein bindingGO:0433939.4PSEN2, PSEN1, APP
27Notch signaling pathwayGO:0072199.3APP, PSEN1, PSEN2
28forebrain developmentGO:0309009.1PSEN2, 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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet