MCID: BSL009
MIFTS: 43

Basal Ganglia Calcification

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification

MalaCards integrated aliases for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 12 30 15 74
Fahr's Syndrome 55 74
Idiopathic Basal Ganglia Calcification 1 45
Fahr's Disease 77
Fahr Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060230
MeSH 45 C536275
NCIt 51 C129973

Summaries for Basal Ganglia Calcification

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.

MalaCards based summary : Basal Ganglia Calcification, also known as fahr's syndrome, is related to primary familial brain calcification and basal ganglia calcification, idiopathic, 1, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and PDGFR-beta signaling pathway. Affiliated tissues include brain, cortex and bone, and related phenotype is immune system.

Wikipedia : 77 Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... 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 118)
# Related Disease Score Top Affiliating Genes
1 primary familial brain calcification 33.1 PDGFB PDGFRB SLC20A2 XPR1
2 basal ganglia calcification, idiopathic, 1 12.9
3 basal ganglia calcification, idiopathic, 5 12.9
4 basal ganglia calcification, idiopathic, 4 12.9
5 basal ganglia calcification, idiopathic, 6 12.8
6 basal ganglia calcification, idiopathic, 2 12.7
7 immunodeficiency 38 with basal ganglia calcification 12.7
8 basal ganglia calcification, idiopathic, 7, autosomal recessive 12.7
9 basal ganglia calcification, idiopathic, childhood-onset 12.7
10 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 11.8
11 aicardi-goutieres syndrome 11.7
12 hypocalcemia, autosomal dominant 1 11.4
13 proteasome-associated autoinflammatory syndrome 1 11.3
14 hypocalcemia, autosomal dominant 2 11.3
15 aicardi-goutieres syndrome 7 11.3
16 congenital intrauterine infection-like syndrome 11.1
17 hypoparathyroidism 10.6
18 pseudohypoparathyroidism 10.3
19 dystonia 10.3
20 epilepsy 10.3
21 schizophrenia 10.2
22 dementia 10.2
23 down syndrome 10.1
24 kearns-sayre syndrome 10.1
25 bipolar disorder 10.1
26 diabetes mellitus 10.1
27 telangiectasis 10.1
28 choreatic disease 10.1
29 calcinosis 10.1
30 mood disorder 10.1
31 corticobasal degeneration 10.1
32 organic mood syndrome 10.1
33 spasticity 10.1
34 astrocytoma 10.1
35 obsessive-compulsive disorder 10.0
36 phenylketonuria 10.0
37 peripheral vascular disease 10.0
38 psychotic disorder 10.0
39 paroxysmal nonkinesigenic dyskinesia 1 10.0
40 multiple sclerosis 10.0
41 dystonia 1, torsion, autosomal dominant 10.0
42 moebius syndrome 10.0
43 digeorge syndrome 10.0
44 pseudohypoparathyroidism, type ii 10.0
45 autism 10.0
46 disorganization, mouse, homolog of 10.0
47 neurodegeneration with brain iron accumulation 1 10.0
48 biotinidase deficiency 10.0
49 leigh syndrome 10.0
50 retinitis pigmentosa 10.0

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:


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

MGI Mouse Phenotypes related to Basal Ganglia Calcification:

47
# 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

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 30

Anatomical Context for Basal Ganglia Calcification

MalaCards organs/tissues related to Basal Ganglia Calcification:

42
Brain, Cortex, Bone, Skin, Endothelial, Thyroid, Caudate Nucleus

Publications for Basal Ganglia Calcification

Articles related to Basal Ganglia Calcification:

(show top 50) (show all 234)
# Title Authors Year
1
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. ( 30100227 )
2019
2
SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. ( 30704756 )
2019
3
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells. ( 30952898 )
2019
4
Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness. ( 31080899 )
2019
5
Severe hypocalcaemia-related pustular psoriasis in an 83-year-old woman with Fahr's syndrome: a case report. ( 29953675 )
2019
6
Fahr's syndrome. ( 30506211 )
2019
7
General anesthesia for patient with Fahr's syndrome: A case report. ( 31027134 )
2019
8
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification. ( 29288724 )
2018
9
Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy? ( 29334856 )
2018
10
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229 )
2018
11
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. ( 29578123 )
2018
12
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). ( 29627011 )
2018
13
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
14
Idiopathic basal ganglia calcification associated with cerebral micro-infarcts: a case report. ( 29665789 )
2018
15
Letter to the Editor Regarding "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714087 )
2018
16
Reply to Letter on "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714093 )
2018
17
A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter. ( 30335026 )
2018
18
A Case of Seizure Revealing Fahr's Syndrome with Primary Hypoparathyroidism. ( 30504755 )
2018
19
MRI Cannot Detect Calcification for the Diagnosis of Fahr's Syndrome. ( 29434144 )
2018
20
Fahr's Syndrome in a Greenlandic Inuit. ( 30128421 )
2018
21
Unusual Cause of Hypotension in a Polytrauma Victim: A Case of Fahr's Syndrome. ( 30186019 )
2018
22
Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features. ( 30430526 )
2018
23
Basal ganglia calcification in a case of PKAN. ( 28024710 )
2017
24
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
25
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
26
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710 )
2017
27
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437 )
2017
28
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894 )
2017
29
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 )
2017
30
Fahr's Syndrome Misdiagnosed as Schizophrenia: A Case Report. ( 28473946 )
2017
31
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866 )
2016
32
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848 )
2016
33
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967 )
2016
34
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451 )
2016
35
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
36
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. ( 27943471 )
2016
37
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2016
38
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
39
Idiopathic basal ganglia calcification (Fahr's disease) and dementia. ( 26939914 )
2016
40
EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION. ( 30226966 )
2016
41
Fahr's Syndrome and Secondary Hypoparathyroidism. ( 27141572 )
2016
42
Fahr's syndrome presenting with epileptic seizure: Two case reports. ( 28058390 )
2016
43
Femoral neck's fracture in Fahr's Syndrome: case report. ( 28228797 )
2016
44
Fahr's syndrome. ( 27086479 )
2016
45
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27306481 )
2016
46
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27400114 )
2016
47
Fahr's Disease or Fahr's Syndrome? ( 27672489 )
2016
48
Fahr's syndrome and clinical correlation: a case series and literature review. ( 27764521 )
2016
49
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412 )
2015
50
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. ( 25366923 )
2015

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 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.69 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 osteoclast differentiation GO:0030316 9.49 TREM2 TYROBP
7 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 PDGFB PDGFRB
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFB PDGFRB
9 positive regulation of reactive oxygen species metabolic process GO:2000379 9.43 PDGFB PDGFRB
10 positive regulation of mitotic nuclear division GO:0045840 9.4 PDGFB PDGFRB
11 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFB PDGFRB
12 phosphate ion transmembrane transport GO:0035435 9.32 SLC20A2 XPR1
13 positive regulation of calcium ion import GO:0090280 9.26 PDGFB PDGFRB
14 positive regulation of DNA biosynthetic process GO:2000573 9.16 PDGFB PDGFRB
15 positive regulation of chemotaxis GO:0050921 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 signaling receptor activity GO:0038023 9.33 SLC20A2 TREM2 XPR1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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