MCID: BSL009
MIFTS: 46

Basal Ganglia Calcification malady

Rare diseases category

Aliases & Classifications for Basal Ganglia Calcification

About this section

Aliases & Descriptions for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 8
Fahr's Syndrome 43 22 61
Cerebral Calcification Nonarteriosclerotic Idiopathic Childhood-Onset 42
Bilateral Striopallidodentate Calcinosis Childhood-Onset 42
Idiopathic Basal Ganglia Calcification, Childhood Onset 61
Idiopathic Basal Ganglia Calcification Childhood-Onset 42
 
Childhood-Onset Idiopathic Basal Ganglia Calcification 8
Idiopathic Basal Ganglia Calcification 8
Basal Ganglia Calcifications 61
Ibgc Childhood Onset 42
Fahr Disease 8


Classifications:



External Ids:

Disease Ontology8 DOID:0060230
MeSH33 C536275

Summaries for Basal Ganglia Calcification

About this section
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 based summary: Basal Ganglia Calcification, also known as fahr's syndrome, is related to nasu-hakola disease and down syndrome. An important gene associated with Basal Ganglia Calcification is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2), and among its related pathways are G protein signaling H RAS regulation pathway and Cytoskeleton remodeling Role of PDGFs in cell migration. The compounds su 16f and dmpq dihydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are other and renal/urinary system.

Disease Ontology:8 A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.

Related Diseases for Basal Ganglia Calcification

About this section

Diseases related to Basal Ganglia Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1nasu-hakola disease30.3TYROBP, TREM2
2down syndrome30.1MAPT, PSEN2, PSEN1, APP
3dementia29.4TYROBP, APP, PSEN1, PSEN2, MAPT, TREM2
4familial idiopathic basal ganglia calcification11.1
5basal ganglia calcification, idiopathic, 110.7
6hypoparathyroidism10.7
7basal ganglia calcification, idiopathic, 210.6
8basal ganglia calcification, idiopathic, 410.6
9basal ganglia calcification, idiopathic, 510.6
10kearns-sayre syndrome10.5
11aicardi-goutieres syndrome10.5
12pseudohypoparathyroidism10.5
13semantic dementia10.4MAPT
14aicardi-goutieres syndrome 710.4
15autoinflammation, lipodystrophy, and dermatosis syndrome10.4
16hypocalcemia, autosomal dominant10.4
17aicardi-goutieres syndrome 1, dominant and recessive10.4
18dystonia10.4
19mood disorder10.4
20corticobasal degeneration10.4
21desmoid disease, hereditary10.3PDGFRB, PDGFB
22dermatofibrosarcoma protuberans10.3PDGFRB, PDGFB
23meningioma, familial10.3PDGFB, PDGFRB
24dementia, frontotemporal10.2PSEN1, MAPT
25pick disease10.2PSEN1, MAPT
26schizophrenia10.2
27spastic paraplegia 56, autosomal recessive10.2
28oculodentodigital dysplasia10.2
29kenny-caffey syndrome, type 210.2
30aicardi-goutieres syndrome 210.2
31folate malabsorption, hereditary10.2
32aicardi-goutieres syndrome 510.2
33biotinidase deficiency10.2
34xeroderma pigmentosum, group b10.2
35cockayne syndrome, type a10.2
36osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
37cockayne syndrome, type b10.2
38pseudohypoparathyroidism ia10.2
39pseudohypoparathyroidism ic10.2
40arteriovenous fistula10.2
41bipolar disorder10.2
42glomerulonephritis10.2
43membranoproliferative glomerulonephritis10.2
44ganglioglioma10.2
45blepharospasm10.2
46rickets10.2
47mutism10.2
48arteriovenous malformation10.2
49calcinosis10.2
50gangliosidosis10.2

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



Diseases related to basal ganglia calcification

Symptoms for Basal Ganglia Calcification

About this section

Drugs & Therapeutics for Basal Ganglia Calcification

About this section

Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Calcification

Search NIH Clinical Center for Basal Ganglia Calcification

Genetic Tests for Basal Ganglia Calcification

About this section

Genetic tests related to Basal Ganglia Calcification:

id Genetic test Affiliating Genes
1 Fahr's Syndrome22

Anatomical Context for Basal Ganglia Calcification

About this section

MalaCards organs/tissues related to Basal Ganglia Calcification:

31
Brain, Eye, Cortex, Bone, Pineal

Animal Models for Basal Ganglia Calcification or affiliated genes

About this section

Publications for Basal Ganglia Calcification

About this section

Articles related to Basal Ganglia Calcification:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Familial idiopathic basal ganglia calcification (Fahr`s disease). (24983277)
2014
2
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. (25366923)
2014
3
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. (25301227)
2014
4
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. (24434185)
2014
5
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. (23939468)
2013
6
Psychosis revealing familial idiopathic basal ganglia calcification. (23122487)
2013
7
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
8
Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome. (24416050)
2013
9
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. (24065723)
2013
10
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
11
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
12
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. (23255827)
2013
13
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. (23437308)
2013
14
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. (23406454)
2013
15
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
16
Rare co-occurrence of dural arteriovenous fistula and arteriovenous malformation with bilateral subcortical and basal ganglia calcification. (22755350)
2012
17
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
18
Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism. (22288727)
2012
19
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation. (22982920)
2012
20
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. (22988575)
2012
21
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
22
A case of idiopathic basal ganglia calcification associated with membranoproliferative glomerulonephritis. (22001464)
2011
23
Extensive basal ganglia calcification related to hypoparathyroidism in a young woman. (20467294)
2011
24
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
25
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
26
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
27
A case report of Basal Ganglia calcification - a rare finding of hypoparathyroidism. (22224190)
2009
28
Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. (17357130)
2007
29
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (16505336)
2006
30
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
31
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (15883308)
2005
32
Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. (15654564)
2005
33
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
34
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. (15337474)
2004
35
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12621646)
2003
36
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
37
Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. (10063711)
1999
38
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (10441584)
1999
39
Idiopathic hypoparathyroidism with basal ganglia calcification, epilepsy, and interictal focal hyperperfusion. (9568766)
1998
40
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. (9087991)
1997
41
Pineal ganglioglioma in a patient with familial basal ganglia calcification and elevated serum alpha-fetoprotein: case report. (7692346)
1993
42
Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. (1758461)
1991
43
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. (2363422)
1990
44
Basal ganglia calcification and organic mood disorder. (2912244)
1989
45
Idiopathic basal ganglia calcification and organic mood disorder. (3344850)
1988
46
Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification. (3404168)
1988
47
Basal ganglia calcifications in a case of biotinidase deficiency. (3399084)
1988
48
Hyperkinetic mutism: bilateral ballism and basal ganglia calcification. (3703289)
1986
49
Basal ganglia calcification in pseudohypoparathyroidism type II. (7307284)
1981
50
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Basal Ganglia Calcification

About this section

Clinvar genetic disease variations for Basal Ganglia Calcification:

5
id Gene Variation 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 Basal Ganglia Calcification

About this section
Search GEO for disease gene expression data for Basal Ganglia Calcification.

Pathways for genes affiliated with Basal Ganglia Calcification

About this section

Pathways related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PDGFB, PDGFRB
2
Show member pathways
PDGF Pathway36
9.9PDGFRB, PDGFB
39.9PDGFB, PDGFRB
49.9PSEN2, PSEN1
5
Show member pathways
9.6PSEN2, PDGFRB, PDGFB
6
Show member pathways
MAPK signaling pathway36
9.6PDGFB, PDGFRB, MAPT
79.5PSEN2, PSEN1, APP
8
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.5APP, PSEN1, PSEN2
99.5APP, PSEN1, PSEN2
10
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.3PSEN1, PSEN2, PDGFRB, PDGFB
11
Show member pathways
9.2PDGFB, PDGFRB, MAPT, APP
12
Show member pathways
Alzheimers Disease36
9.1MAPT, PSEN2, PSEN1, APP
139.1APP, PSEN1, PSEN2, MAPT
148.9PDGFRB, MAPT, PSEN2, PSEN1, APP
15
Show member pathways
8.8TYROBP, PSEN2, PDGFRB, PDGFB, TREM2

Compounds for genes affiliated with Basal Ganglia Calcification

About this section

Compounds related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1su 16f6010.3PDGFRB, PDGFB
2dmpq dihydrochloride6010.3PDGFB, PDGFRB
3su 66686010.3PDGFRB, PDGFB
4sunitinib malate6010.3PDGFRB, PDGFB
5s-1824410.3PSEN2, PSEN1
6l-685,4586010.3PSEN1, PSEN2
7mrk 5606010.3PSEN2, PSEN1
8jlk 66010.3PSEN1, PSEN2
9begacestat6010.3PSEN1, PSEN2
10dapt6010.3PSEN1, PSEN2
11ab-424410.2PSEN2, APP
12thioflavin4410.2APP, MAPT
13thioflavine s4410.1MAPT, APP
14tacrine44 1111.1APP, MAPT
15donepezil44 50 24 1113.1MAPT, APP
16memantine44 28 50 1113.0MAPT, APP
17galantamine44 50 1112.0APP, MAPT
18bromodeoxyuridine449.9PDGFB, PSEN1, PDGFRB
19spec-t449.9MAPT, PSEN1
20formate449.9MAPT, APP
21ribonucleic acid449.8PDGFB, PSEN2, PDGFRB
22carbachol44 28 1111.7APP, PSEN1, MAPT
23folate449.7MAPT, PSEN1, APP
24paraffin449.6PDGFRB, PDGFB, MAPT, PSEN2
254-hydroxynonenal44 2410.6PDGFRB, MAPT, APP, PSEN1
26lactacystin449.6APP, PSEN1, PSEN2, MAPT
27choline44 24 1111.6APP, PSEN1, PSEN2, MAPT
28valine449.6PSEN2, MAPT, APP, PSEN1
29paclitaxel44 50 1111.6MAPT, APP, PSEN2, PDGFRB
30methionine449.5PDGFRB, MAPT, PSEN1
31oligonucleotide449.5PSEN1, PDGFRB, PSEN2, PDGFB
32cycloheximide449.5PSEN2, PSEN1, MAPT, PDGFB
33cholesterol44 28 24 1112.4PSEN1, APP, PSEN2, PDGFRB
34nmda44 2810.4MAPT, PSEN1, APP
35vegf449.4PSEN2, APP, PDGFRB, PDGFB
36arginine449.3SLC20A2, MAPT, PSEN1, APP
37glucose449.3MAPT, PDGFB, PDGFRB, PSEN2, PSEN1
38alanine449.3APP, PSEN1, MAPT, PDGFRB, SLC20A2
39h2o2449.2PDGFRB, MAPT, PSEN2, PSEN1, APP
40retinoic acid44 2410.2PSEN2, PSEN1, PDGFRB, APP, MAPT
41aspartate449.1MAPT, PSEN2, PSEN1, APP, TYROBP
42threonine448.9PSEN1, MAPT, PDGFRB, TRPM6
43glutamate448.8PSEN2, MAPT, PSEN1, APP
44serine448.2SLC20A2, TRPM6, PDGFB, PDGFRB, MAPT, PSEN2

GO Terms for genes affiliated with Basal Ganglia Calcification

About this section

Cellular components related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.8PDGFB, APP
2ciliary rootletGO:00352539.7PSEN2, PSEN1, APP
3dendritic shaftGO:00431989.6PSEN2, PSEN1, APP
4neuromuscular junctionGO:00315949.6APP, PSEN1, PSEN2
5growth coneGO:00304269.4PSEN1, PSEN2, MAPT
6axonGO:00304249.3APP, PSEN1, PSEN2, MAPT
7apical plasma membraneGO:00163249.1PSEN1, PSEN2, PDGFRB, TRPM6
8cell surfaceGO:00099869.0TYROBP, APP, PSEN1, PSEN2, PDGFB
9integral component of plasma membraneGO:00058878.5SLC20A2, PSEN2, PSEN1, APP, TYROBP
10plasma membraneGO:00058867.5TYROBP, APP, PSEN2, MAPT, PDGFRB, SLC20A2

Biological processes related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:007226210.4PDGFRB, PDGFB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.3PDGFRB, PDGFB
3positive regulation of DNA biosynthetic processGO:0200057310.3PDGFRB, PDGFB
4positive regulation of chemotaxisGO:005092110.3PDGFB, PDGFRB
5positive regulation of calcium ion importGO:009028010.3PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:001491110.3PDGFB, PDGFRB
7positive regulation of coagulationGO:005082010.3PSEN1, PSEN2
8myeloid leukocyte differentiationGO:000257310.3PSEN1, PSEN2
9endoplasmic reticulum calcium ion homeostasisGO:003246910.3PSEN1, PSEN2
10amyloid precursor protein catabolic processGO:004298710.3PSEN2, PSEN1
11beta-amyloid metabolic processGO:005043510.2PSEN1, PSEN2
12anagenGO:004264010.2PSEN1, PSEN2
13positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.2PDGFRB, PDGFB
14smooth endoplasmic reticulum calcium ion homeostasisGO:005156310.2APP, PSEN1
15dorsal/ventral neural tube patterningGO:002190410.2PSEN1, PSEN2
16regulation of epidermal growth factor-activated receptor activityGO:000717610.2APP, PSEN2
17hematopoietic progenitor cell differentiationGO:000224410.2PSEN2, PSEN1
18cell fate specificationGO:000170810.2PSEN1, PSEN2
19positive regulation of reactive oxygen species metabolic processGO:0200037910.2PDGFRB, PDGFB
20brain morphogenesisGO:004885410.2PSEN1, PSEN2
21platelet-derived growth factor receptor signaling pathwayGO:004800810.2PDGFB, PDGFRB
22T cell activation involved in immune responseGO:000228610.2PSEN1, PSEN2
23membrane protein ectodomain proteolysisGO:000650910.2PSEN2, PSEN1
24positive regulation of mitosisGO:004584010.2PDGFRB, PDGFB
25Notch receptor processingGO:000722010.2PSEN1, PSEN2
26skeletal system morphogenesisGO:004870510.2PSEN1, PDGFRB
27axon cargo transportGO:000808810.1APP, MAPT
28regulation of protein bindingGO:004339310.1PSEN1, APP
29protein processingGO:001648510.1PSEN2, PSEN1
30regulation of synaptic plasticityGO:004816710.1PSEN2, PSEN1
31positive regulation of MAP kinase activityGO:004340610.0PDGFRB, PDGFB, PSEN1
32thymus developmentGO:004853810.0PSEN2, PSEN1
33neuron apoptotic processGO:005140210.0APP, PSEN1
34somitogenesisGO:00017569.9PSEN2, PSEN1
35embryonic limb morphogenesisGO:00303269.9PSEN2, PSEN1
36memoryGO:00076139.9PSEN2, PSEN1
37Notch signaling pathwayGO:00072199.8PSEN2, PSEN1, APP
38positive regulation of smooth muscle cell proliferationGO:00486619.8PDGFRB, PDGFB
39positive regulation of catalytic activityGO:00430859.7PSEN2, PSEN1, CTAGE5
40neurotrophin TRK receptor signaling pathwayGO:00480119.7PDGFB, PDGFRB, PSEN2
41cell chemotaxisGO:00603269.6PDGFRB, PDGFB
42innate immune responseGO:00450879.1TREM2, PDGFB, PDGFRB, APP, TYROBP

Molecular functions related to Basal Ganglia Calcification according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.0PDGFB, PDGFRB
2platelet-derived growth factor receptor bindingGO:000516110.0PDGFB, PDGFRB
3aspartic-type endopeptidase activityGO:00041909.9PSEN2, PSEN1
4endopeptidase activityGO:00041759.8PSEN2, PSEN1
5receptor bindingGO:00051029.1TYROBP, APP, PDGFRB
6protein bindingGO:00055157.6TRPM6, PDGFB, PDGFRB, MAPT, PSEN2, PSEN1

Sources for Basal Ganglia Calcification

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet