Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 28 14 69
Fahr's Syndrome 50 69
Idiopathic Basal Ganglia Calcification 1 41
Fahr's Disease 72
Fahr Disease 12

Classifications:



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Disease Ontology 12 DOID:0060230
MeSH 41 C536275
SNOMED-CT 64 110997000

Summaries for Basal Ganglia Calcification

NINDS : 50 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 familial idiopathic basal ganglia calcification and basal ganglia calcification, idiopathic, 1, and has symptoms including dysdiadochokinesis, abnormality of extrapyramidal motor function and bradykinesia. 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 Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include brain, cortex and eye.

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.

Wikipedia : 72 Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare,genetically dominant,... more...

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 62)
# Related Disease Score Top Affiliating Genes
1 familial idiopathic basal ganglia calcification 33.8 SLC20A2 SNTG1
2 basal ganglia calcification, idiopathic, 1 33.4 PDGFB PDGFRB SLC20A2 XPR1
3 primary familial brain calcification 31.5 PDGFB PDGFRB SLC20A2 XPR1
4 basal ganglia calcification, idiopathic, 5 12.6
5 basal ganglia calcification, idiopathic, 4 12.6
6 basal ganglia calcification, idiopathic, 2 12.5
7 basal ganglia calcification, idiopathic, 6 12.5
8 immunodeficiency 38 with basal ganglia calcification 12.5
9 basal ganglia calcification, idiopathic, childhood-onset 12.5
10 aicardi-goutieres syndrome 11.5
11 hypocalcemia, autosomal dominant 1 11.3
12 autoinflammation, lipodystrophy, and dermatosis syndrome 11.1
13 hypocalcemia, autosomal dominant 2 11.1
14 aicardi-goutieres syndrome 7 11.1
15 hypoparathyroidism 10.4
16 pseudohypoparathyroidism 10.2
17 dystonia 10.1
18 dementia 10.1
19 schizophrenia 10.0
20 kearns-sayre syndrome 10.0
21 chorea, childhood-onset, with psychomotor retardation 10.0
22 choreatic disease 10.0
23 epilepsy 10.0
24 mood disorder 10.0
25 mitochondrial disorders 10.0
26 corticobasal degeneration 10.0
27 solitary bone cyst 9.9 TREM2 TYROBP
28 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 9.9 TREM2 TYROBP
29 multiple sclerosis 9.8
30 moebius syndrome 9.8
31 down syndrome 9.8
32 pseudohypoparathyroidism, type ii 9.8
33 autism 9.8
34 biotinidase deficiency 9.8
35 neurodegeneration with brain iron accumulation 5 9.8
36 diabetes and deafness, maternally inherited 9.8
37 supranuclear palsy, progressive, 1 9.8
38 branchiootic syndrome 1 9.8
39 alpha-fetoprotein deficiency 9.8
40 arteriovenous fistula 9.8
41 bipolar disorder 9.8
42 diabetes mellitus 9.8
43 glomerulonephritis 9.8
44 spasmodic dystonia 9.8
45 rickets 9.8
46 impulse control disorder 9.8
47 arteriovenous malformation 9.8
48 calcinosis 9.8
49 membranoproliferative glomerulonephritis 9.8
50 laryngitis 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:


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

Drugs & Therapeutics for Basal Ganglia Calcification

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification 28

Anatomical Context for Basal Ganglia Calcification

MalaCards organs/tissues related to Basal Ganglia Calcification:

38
Brain, Cortex, Eye, Bone, Pineal, Caudate Nucleus

Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 100)
# Title Authors Year
1
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229 )
2018
2
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification. ( 29288724 )
2018
3
Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy? ( 29334856 )
2018
4
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437 )
2017
5
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
6
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894 )
2017
7
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
8
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710 )
2017
9
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451 )
2016
10
Basal ganglia calcification in a case of PKAN. ( 28024710 )
2016
11
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
12
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848 )
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
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866 )
2016
17
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
18
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
19
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967 )
2016
20
Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification. ( 26351460 )
2015
21
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412 )
2015
22
Idiopathic basal ganglia calcification presenting as schizophrenia-like psychosis and obsessive-compulsive symptoms: A case report. ( 26622362 )
2015
23
Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder. ( 26246920 )
2015
24
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? ( 26187296 )
2015
25
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant. ( 26167230 )
2015
26
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. ( 25636102 )
2015
27
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. ( 26475232 )
2015
28
Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. ( 26588638 )
2015
29
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2015
30
Developmental Venous Anomaly With Asymmetrical Basal Ganglia Calcification: Two Case Reports and Review of the Literature. ( 26557273 )
2015
31
Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism. ( 24552219 )
2014
32
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. ( 24770784 )
2014
33
PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC). ( 24946076 )
2014
34
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. ( 25366923 )
2014
35
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. ( 24434185 )
2014
36
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. ( 24135862 )
2014
37
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. ( 25301227 )
2014
38
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. ( 24556562 )
2014
39
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. ( 24518837 )
2014
40
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. ( 24463626 )
2014
41
A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. ( 24323245 )
2014
42
Familial idiopathic basal ganglia calcification (Fahr`s disease). ( 24983277 )
2014
43
Idiopathic basal ganglia calcification as a differential diagnosis of parkinsonism: a case report in an older adult. ( 25065400 )
2014
44
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. ( 24796542 )
2014
45
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. ( 23437308 )
2013
46
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. ( 24286000 )
2013
47
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. ( 23406454 )
2013
48
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. ( 24142081 )
2013
49
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. ( 24065723 )
2013
50
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. ( 23255827 )
2013

Variations for Basal Ganglia Calcification

ClinVar genetic disease variations for Basal Ganglia Calcification:

6
# 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:

# Super pathways Score Top Affiliating Genes
1 11.05 PDGFB PDGFRB
2 10.88 PDGFB PDGFRB
3 10.72 PDGFB PDGFRB
4 10.32 PDGFB PDGFRB
5 9.77 PDGFB PDGFRB

GO Terms for Basal Ganglia Calcification

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

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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