MCID: BSL009
MIFTS: 39

Basal Ganglia Calcification

Categories: Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 29 15 73
Fahr's Syndrome 54 73
Idiopathic Basal Ganglia Calcification 1 44
Fahr's Disease 76
Fahr Disease 12

Classifications:



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Disease Ontology 12 DOID:0060230
MeSH 44 C536275
SNOMED-CT 68 110997000

Summaries for Basal Ganglia Calcification

NINDS : 54 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 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 Regulation of IFNA signaling and PDGFR-beta signaling pathway. 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 : 76 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 61)
# Related Disease Score Top Affiliating Genes
1 familial idiopathic basal ganglia calcification 33.7 SLC20A2 SNTG1
2 basal ganglia calcification, idiopathic, 1 33.0 PDGFB PDGFRB SLC20A2 XPR1
3 primary familial brain calcification 31.1 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, 6 12.6
7 basal ganglia calcification, idiopathic, 2 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 epilepsy 10.0
22 mood disorder 10.0
23 mitochondrial disorders 10.0
24 corticobasal degeneration 10.0
25 multiple sclerosis 9.8
26 down syndrome 9.8
27 pseudohypoparathyroidism, type ii 9.8
28 autism 9.8
29 neurodegeneration with brain iron accumulation 1 9.8
30 biotinidase deficiency 9.8
31 leigh syndrome 9.8
32 neurodegeneration with brain iron accumulation 5 9.8
33 diabetes and deafness, maternally inherited 9.8
34 supranuclear palsy, progressive, 1 9.8
35 arteriovenous fistula 9.8
36 bipolar disorder 9.8
37 diabetes mellitus 9.8
38 glomerulonephritis 9.8
39 spasmodic dystonia 9.8
40 rickets 9.8
41 impulse control disorder 9.8
42 arteriovenous malformation 9.8
43 calcinosis 9.8
44 membranoproliferative glomerulonephritis 9.8
45 gangliosidosis gm1 9.8
46 cerebritis 9.8
47 laryngitis 9.8
48 mutism 9.8
49 hyperglycemia 9.8
50 ganglioglioma 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

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 29

Anatomical Context for Basal Ganglia Calcification

MalaCards organs/tissues related to Basal Ganglia Calcification:

41
Brain, Cortex, Eye, Bone, Pineal, Caudate Nucleus

Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 110)
# Title Authors Year
1
Letter to the Editor Regarding "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714087 )
2018
2
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification. ( 29288724 )
2018
3
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229 )
2018
4
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report. ( 29642163 )
2018
5
Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy? ( 29334856 )
2018
6
Reply to Letter on "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714093 )
2018
7
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). ( 29627011 )
2018
8
Idiopathic basal ganglia calcification associated with cerebral micro-infarcts: a case report. ( 29665789 )
2018
9
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications. ( 29929013 )
2018
10
A Novel <i>SLC20A2</i> Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. ( 29578123 )
2018
11
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
12
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437 )
2017
13
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710 )
2017
14
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
15
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894 )
2017
16
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967 )
2016
17
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451 )
2016
18
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. ( 27943471 )
2016
19
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
20
Basal ganglia calcification in a case of PKAN. ( 28024710 )
2016
21
Idiopathic basal ganglia calcification (Fahr's disease) and dementia. ( 26939914 )
2016
22
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
23
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
24
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848 )
2016
25
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866 )
2016
26
Case of extensive basal ganglia calcification-Rare finding of Idiopathic Hypoparathyroidism. ( 27728189 )
2016
27
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412 )
2015
28
[Molecular mechanism of idiopathic basal ganglia calcification]. ( 26353387 )
2015
29
Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder. ( 26246920 )
2015
30
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant. ( 26167230 )
2015
31
Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. ( 26588638 )
2015
32
Idiopathic basal ganglia calcification presenting as schizophrenia-like psychosis and obsessive-compulsive symptoms: A case report. ( 26622362 )
2015
33
Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification. ( 26351460 )
2015
34
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2015
35
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. ( 25636102 )
2015
36
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? ( 26187296 )
2015
37
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. ( 26475232 )
2015
38
Developmental Venous Anomaly With Asymmetrical Basal Ganglia Calcification: Two Case Reports and Review of the Literature. ( 26557273 )
2015
39
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. ( 24770784 )
2014
40
Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism. ( 24552219 )
2014
41
PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC). ( 24946076 )
2014
42
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. ( 25301227 )
2014
43
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. ( 24556562 )
2014
44
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. ( 24796542 )
2014
45
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. ( 24463626 )
2014
46
A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. ( 24323245 )
2014
47
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. ( 24135862 )
2014
48
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. ( 25366923 )
2014
49
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. ( 24434185 )
2014
50
Idiopathic basal ganglia calcification as a differential diagnosis of parkinsonism: a case report in an older adult. ( 25065400 )
2014

Variations for Basal Ganglia Calcification

Expression for Basal Ganglia Calcification

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

Pathways for Basal Ganglia Calcification

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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFB PDGFRB
2 positive regulation of MAP kinase activity GO:0043406 9.54 PDGFB PDGFRB
3 positive regulation of smooth muscle cell proliferation GO:0048661 9.52 PDGFB PDGFRB
4 positive regulation of fibroblast proliferation GO:0048146 9.51 PDGFB PDGFRB
5 platelet-derived growth factor receptor signaling pathway GO:0048008 9.49 PDGFB PDGFRB
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFB PDGFRB
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.46 PDGFB PDGFRB
8 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFB PDGFRB
9 positive regulation of smooth muscle cell migration GO:0014911 9.4 PDGFB PDGFRB
10 positive regulation of calcium ion import GO:0090280 9.37 PDGFB PDGFRB
11 positive regulation of DNA biosynthetic process GO:2000573 9.32 PDGFB PDGFRB
12 positive regulation of chemotaxis GO:0050921 9.26 PDGFB PDGFRB
13 phosphate ion transmembrane transport GO:0035435 9.16 SLC20A2 XPR1
14 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 8.96 PDGFB PDGFRB
15 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 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 PDGFB PDGFRB
2 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
3 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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