Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 29 14 69
Fahr's Syndrome 51 69
Idiopathic Basal Ganglia Calcification 1 42
Fahr Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060230
MeSH 42 C536275
SNOMED-CT 64 110997000
UMLS 69 C0393590

Summaries for Basal Ganglia 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, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (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 basal ganglia calcification, idiopathic, 6 and basal ganglia calcification, idiopathic, 4, and has symptoms including athetosis, cerebellar ataxia and muscle rigidity. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are PDGFR-beta signaling pathway and G-protein signaling_H-RAS regulation pathway. The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related phenotype is immune system.

Disease Ontology : 12 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

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 basal ganglia calcification, idiopathic, 6 12.5
2 basal ganglia calcification, idiopathic, 4 12.4
3 basal ganglia calcification, idiopathic, 5 12.4
4 basal ganglia calcification, idiopathic, 1 12.4
5 basal ganglia calcification, idiopathic, 2 12.4
6 idiopathic basal ganglia calcification childhood-onset 12.1
7 primary familial brain calcification 11.9
8 immunodeficiency 38 11.8
9 aicardi-goutieres syndrome 11.3
10 hypocalcemia, autosomal dominant 11.2
11 primary familial brain calcification 2 11.1
12 primary familial brain calcification 3 11.1
13 primary familial brain calcification 4 11.1
14 primary familial brain calcification 5 11.1
15 primary familial brain calcification 1 11.1
16 hypocalcemia, autosomal dominant 2 11.0
17 aicardi-goutieres syndrome 7 11.0
18 autoinflammation, lipodystrophy, and dermatosis syndrome 11.0
19 hypoparathyroidism 10.3
20 pseudohypoparathyroidism 10.1
21 neutrophil immunodeficiency syndrome 10.1 PDGFB PDGFRB
22 dystonia 10.1
23 dementia 10.0
24 mood disorder 9.9
25 kearns-sayre syndrome 9.9
26 schizophrenia 9.9
27 mitochondrial disorders 9.9
28 corticobasal degeneration 9.9
29 epilepsy 9.9
30 oromandibular dystonia 9.8 PDGFB THAP1
31 membranoproliferative glomerulonephritis 9.8
32 down syndrome 9.8
33 laryngitis 9.8
34 pseudohypoparathyroidism, type ii 9.8
35 mutism 9.8
36 paroxysmal choreoathetosis 9.8
37 arteriovenous fistula 9.8
38 hyperglycemia 9.8
39 tremor 9.8
40 bipolar disorder 9.8
41 ganglioglioma 9.8
42 atlantoaxial subluxation 9.8
43 glomerulonephritis 9.8
44 blepharospasm 9.8
45 rickets 9.8
46 impulse control disorder 9.8
47 biotinidase deficiency 9.8
48 chromosome 10p deletion 9.8
49 arteriovenous malformation 9.8
50 calcinosis 9.8

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



Diseases related to Basal Ganglia Calcification

Symptoms & Phenotypes for Basal Ganglia Calcification

UMLS symptoms related to Basal Ganglia Calcification:


athetosis, cerebellar ataxia, muscle rigidity, tremor, bradykinesia, abnormality of extrapyramidal motor function, dysdiadochokinesis

MGI Mouse Phenotypes related to Basal Ganglia Calcification:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.17 ISG15 PDGFB PDGFRB SLC20A2 TREM2 TYROBP

Drugs & Therapeutics for Basal Ganglia Calcification

Drugs for Basal Ganglia Calcification (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
2
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
4 Bone Density Conservation Agents Phase 2
5 Ergocalciferols Phase 2
6 Micronutrients Phase 2
7 Trace Elements Phase 2
8 Vitamins Phase 2
9 Calciferol Nutraceutical Phase 2
10 Vitamin D2 Nutraceutical Phase 2
11
Resveratrol Experimental, Investigational Phase 1 501-36-0 445154
12 Analgesics Phase 1
13 Analgesics, Non-Narcotic Phase 1
14 Anti-Inflammatory Agents Phase 1
15 Anti-Inflammatory Agents, Non-Steroidal Phase 1
16 Antineoplastic Agents, Phytogenic Phase 1
17 Antioxidants Phase 1
18 Antirheumatic Agents Phase 1
19 Peripheral Nervous System Agents Phase 1
20 Platelet Aggregation Inhibitors Phase 1
21 Protective Agents Phase 1
22 Calcium, Dietary
23 leucine Nutraceutical
24 Whey Protein Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Effects of Vitamin D and Bone Loss in Parkinson's Disease Completed NCT00907972 Phase 2
2 Pharmacokinetic Profile of BIA 6-512 in Healthy Elderly Subjects Versus Healthy Young Subjects Completed NCT03095105 Phase 1 200 mg BIA 6-512
3 Study of Factors Associated With the Volumetric and Areal Bone Mineral Density and Bone Strength in Parkinson's Disease Recruiting NCT02930512
4 Volumetric Bone Mineral Density and it's Relationship With Osteoporotic Fractures in Parkinson's Disease Recruiting NCT03095690
5 Nutritional Support for Rehabilitation In Parkinsonism Recruiting NCT03124277

Search NIH Clinical Center for Basal Ganglia Calcification

Cochrane evidence based reviews: idiopathic basal ganglia calcification 1

Genetic Tests for Basal Ganglia Calcification

Genetic tests related to Basal Ganglia Calcification:

id Genetic test Affiliating Genes
1 Basal Ganglia Calcification 29

Anatomical Context for Basal Ganglia Calcification

MalaCards organs/tissues related to Basal Ganglia Calcification:

39
Brain, Bone, Eye, Cortex, Pineal, Caudate Nucleus

Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 96)
id Title Authors Year
1
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710 )
2017
2
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437 )
2017
3
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
4
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
5
Basal ganglia calcification in a case of PKAN. ( 28024710 )
2016
6
Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. ( 27777849 )
2016
7
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451 )
2016
8
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848 )
2016
9
SLC20A2 deficiency in mice leads to elevated phosphate levels in cerbrospinal fluid and glymphatic pathway-associated arteriolar calcification, and recapitulates human idiopathic basal ganglia calcification. ( 26822507 )
2016
10
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
11
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967 )
2016
12
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866 )
2016
13
Idiopathic basal ganglia calcification (Fahr's disease) and dementia. ( 26939914 )
2016
14
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. ( 27943471 )
2016
15
Case of extensive basal ganglia calcification-Rare finding of Idiopathic Hypoparathyroidism. ( 27728189 )
2016
16
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? ( 26187296 )
2015
17
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant. ( 26167230 )
2015
18
Developmental Venous Anomaly With Asymmetrical Basal Ganglia Calcification: Two Case Reports and Review of the Literature. ( 26557273 )
2015
19
Idiopathic basal ganglia calcification presenting as schizophrenia-like psychosis and obsessive-compulsive symptoms: A case report. ( 26622362 )
2015
20
Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. ( 26588638 )
2015
21
Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification. ( 26351460 )
2015
22
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. ( 26475232 )
2015
23
Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder. ( 26246920 )
2015
24
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412 )
2015
25
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. ( 25636102 )
2015
26
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2015
27
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. ( 24518837 )
2014
28
A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. ( 24323245 )
2014
29
Familial idiopathic basal ganglia calcification (Fahr`s disease). ( 24983277 )
2014
30
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. ( 24135862 )
2014
31
PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC). ( 24946076 )
2014
32
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. ( 25366923 )
2014
33
Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism. ( 24552219 )
2014
34
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. ( 24796542 )
2014
35
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. ( 25301227 )
2014
36
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. ( 24463626 )
2014
37
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. ( 24434185 )
2014
38
Idiopathic basal ganglia calcification as a differential diagnosis of parkinsonism: a case report in an older adult. ( 25065400 )
2014
39
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. ( 24770784 )
2014
40
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. ( 24556562 )
2014
41
Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome. ( 24416050 )
2013
42
Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. ( 23934451 )
2013
43
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. ( 23939468 )
2013
44
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. ( 24142081 )
2013
45
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. ( 24065723 )
2013
46
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. ( 23054591 )
2013
47
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. ( 23255827 )
2013
48
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. ( 23406454 )
2013
49
Psychosis revealing familial idiopathic basal ganglia calcification. ( 23122487 )
2013
50
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. ( 23437308 )
2013

Variations for Basal Ganglia Calcification

ClinVar genetic disease variations for Basal Ganglia 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 SLC20A2 NM_006749.4(SLC20A2): c.509delT (p.Leu170Terfs) deletion Pathogenic rs398122395 GRCh37 Chromosome 8, 42320530: 42320530

Expression for Basal Ganglia Calcification

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

Pathways for Basal Ganglia Calcification

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

id Super pathways Score Top Affiliating Genes
1 10.99 PDGFB PDGFRB
2 10.72 PDGFB PDGFRB
3 10.32 PDGFB PDGFRB
4 9.77 PDGFB PDGFRB

GO Terms for Basal Ganglia Calcification

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 PDGFB PDGFRB TREM2
2 cell chemotaxis GO:0060326 9.57 PDGFB PDGFRB
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.56 PDGFB PDGFRB
4 positive regulation of MAP kinase activity GO:0043406 9.55 PDGFB PDGFRB
5 positive regulation of smooth muscle cell proliferation GO:0048661 9.54 PDGFB PDGFRB
6 positive regulation of fibroblast proliferation GO:0048146 9.52 PDGFB PDGFRB
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.51 PDGFB PDGFRB
8 platelet-derived growth factor receptor signaling pathway GO:0048008 9.49 PDGFB PDGFRB
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFB PDGFRB
10 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFB PDGFRB
11 phosphate ion transmembrane transport GO:0035435 9.4 SLC20A2 XPR1
12 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFB PDGFRB
13 positive regulation of calcium ion import GO:0090280 9.32 PDGFB PDGFRB
14 positive regulation of DNA biosynthetic process GO:2000573 9.26 PDGFB PDGFRB
15 positive regulation of chemotaxis GO:0050921 9.16 PDGFB PDGFRB
16 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 8.96 PDGFB PDGFRB
17 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 Basal Ganglia Calcification according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 9.33 SLC20A2 TREM2 XPR1
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 PDGFB PDGFRB
3 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
4 platelet-derived growth factor binding GO:0048407 8.62 PDGFB PDGFRB

Sources for Basal Ganglia 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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