BSPDC
MCID: FML043
MIFTS: 36

Familial Idiopathic Basal Ganglia Calcification (BSPDC) malady

Genetic diseases category

Summaries for Familial Idiopathic Basal Ganglia Calcification

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 32MalaCards
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NINDS:43 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 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, eye and cortex, and related mouse phenotypes are vision/eye and other.

NIH Rare Diseases:42 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

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.

Aliases & Classifications for Familial Idiopathic Basal Ganglia Calcification

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42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 60UMLS
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Classifications:

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


Aliases & Descriptions:

familial idiopathic basal ganglia calcification 42 21 43
bilateral striopallidodentate calcinosis 42 21
cerebral calcification nonarteriosclerotic idiopathic adult-onset 42
ferrocalcinosis, cerebrovascular 42
cerebrovascular ferrocalcinosis 21
striopallidodentate calcinosis 21
fahr disease, familial 42
fahr's syndrome 60
fibgc 21
bspdc 42


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, 4 family:

familial idiopathic basal ganglia calcification Basal Ganglia Calcification, Idiopathic, 2
Basal Ganglia Calcification, Idiopathic, 5

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia30.4PSEN1, MAPT
2dementia30.4APP, PSEN2, PSEN1, MAPT
3calcinosis10.8
4basal ganglia disease10.6
5idiopathic familial dystonia10.3
6chromosomal disease10.3
7familial dystonia10.3
8schizophrenia10.3
9neurologic diseases10.3
10basal ganglia cancification, idiopathic, 110.3
11hypoparathyroidism10.3
12migraine10.3
13psoriasis10.3
14idiopathic basal ganglia calcification childhood-onset10.3
15prion disease10.0PSEN1
16lewy body dementia10.0MAPT
17aphasia10.0MAPT
18scrapie10.0MAPT
19apraxia10.0MAPT
20inclusion body myositis10.0MAPT, APP
21niemann-pick disease10.0MAPT, APP
22parkinson's disease10.0MAPT
23progressive supranuclear palsy10.0MAPT, APP
24creutzfeldt-jakob syndrome10.0APP, MAPT
25alzheimer disease type 110.0APP, PSEN1, PSEN2
26hemorrhage, intracerebral10.0PSEN1, APP, PSEN2
27central nervous system disease10.0APP, MAPT
28cerebral amyloid angiopathy10.0APP, PSEN1, MAPT
29vascular dementia10.0MAPT, PSEN1, APP
30tauopathy10.0MAPT, PSEN1, APP
31memory impairment10.0PSEN1, MAPT, APP
32brain disease10.0APP, PSEN1, MAPT
33pick's disease10.0APP, PSEN1, MAPT
34amyotrophic lateral sclerosis10.0APP, PSEN1, MAPT
35teratocarcinoma10.0APP, PSEN1, MAPT
36myositis10.0APP, PSEN1, MAPT
37alzheimer disease type 210.0PSEN2, MAPT, APP, PSEN1
38amyloid tumor10.0APP, PSEN1, PSEN2, MAPT
39huntington's disease10.0PSEN2, APP, MAPT, PSEN1
40amyloidosis10.0MAPT, PSEN2, APP, PSEN1
41down syndrome10.0PSEN1, PSEN2, MAPT, APP
42malignant 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

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Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Familial Idiopathic Basal Ganglia Calcification

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Anatomical Context for Familial Idiopathic Basal Ganglia Calcification

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32MalaCards
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MalaCards organs/tissues related to Familial Idiopathic Basal Ganglia Calcification:

32
Brain, Eye, Cortex

Animal Models for Familial Idiopathic Basal Ganglia Calcification or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7SLC20A2, MAPT, PSEN2, PSEN1
2MP:00053958.6MAPT, PSEN1, APP

Publications for Familial Idiopathic Basal Ganglia Calcification

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Genetic Variations for Familial Idiopathic Basal Ganglia Calcification

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Expression for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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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

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Sources:
12EMD Millipore, 59Tocris Bioscience, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 51QIAGEN, 53Reactome, 4Cell Signaling Technology
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Compounds for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1s-1824410.0PSEN2, PSEN1
2begacestat5910.0PSEN1, PSEN2
3jlk 65910.0PSEN2, PSEN1
4mrk 5605910.0PSEN2, PSEN1
5l-685,4585910.0PSEN1, PSEN2
6dapt5910.0PSEN1, PSEN2
7ab-42449.8PSEN2, APP
8thioflavin449.7APP, MAPT
9thioflavine s449.7APP, MAPT
10tacrine44 1110.7MAPT, APP
11donepezil44 11 2411.7APP, MAPT
12memantine44 28 1111.7MAPT, APP
13spec-t449.6MAPT, PSEN1
14galantamine44 49 1111.6APP, MAPT
15ryanodine44 28 5911.5PSEN1, PSEN2
16formate449.5APP, MAPT
17valproate449.4MAPT, APP
18c2ceramide449.3MAPT, APP
194-hydroxynonenal44 2410.2MAPT, PSEN1, APP
20carbachol44 28 1111.2MAPT, PSEN1, APP
21vitamin b12449.2MAPT, PSEN1
22folate449.2APP, PSEN1, MAPT
23paclitaxel44 49 1111.1APP, PSEN2, MAPT
24nmda44 2810.1MAPT, PSEN1, APP
25actinomycin d449.0APP, PSEN2, MAPT
26lactacystin448.9MAPT, PSEN2, PSEN1, APP
27glutamine448.9MAPT, PSEN1, APP
28choline44 11 2410.9APP, PSEN1, PSEN2, MAPT
29valine448.9APP, PSEN1, PSEN2, MAPT
30aspartate448.8APP, PSEN1, PSEN2, MAPT
31h2o2448.8MAPT, PSEN2, PSEN1, APP
32arginine448.8SLC20A2, MAPT, PSEN1, APP
33alanine448.8APP, PSEN1, MAPT, SLC20A2
34glutamate448.7APP, PSEN1, PSEN2, MAPT
35retinoic acid44 249.7MAPT, PSEN2, PSEN1, APP
36serine448.4SLC20A2, 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:

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet