MCID: FML043
MIFTS: 41

Familial Idiopathic Basal Ganglia Calcification

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Familial Idiopathic Basal Ganglia Calcification

MalaCards integrated aliases for Familial Idiopathic Basal Ganglia Calcification:

Name: Familial Idiopathic Basal Ganglia Calcification 25 54 37
Bilateral Striopallidodentate Calcinosis 25
Cerebrovascular Ferrocalcinosis 25
Striopallidodentate Calcinosis 25
Fahr's Syndrome 73
Fibgc 25

Classifications:



External Ids:

KEGG 37 H01574

Summaries for Familial Idiopathic 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 : Familial Idiopathic Basal Ganglia Calcification, also known as bilateral striopallidodentate calcinosis, is related to basal ganglia calcification and basal ganglia calcification, idiopathic, childhood-onset, and has symptoms including athetosis, cerebellar ataxia and muscle rigidity. An important gene associated with Familial Idiopathic Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Notch signaling pathway (KEGG). Affiliated tissues include brain, cortex and eye, and related phenotypes are cardiovascular system and integument

Genetics Home Reference : 25 Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.

Wikipedia : 76 Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare,genetically dominant,... more...

Related Diseases for Familial Idiopathic Basal Ganglia Calcification

Diseases in the Familial Idiopathic Basal Ganglia Calcification family:

Basal Ganglia Calcification, Idiopathic, 1 Basal Ganglia Calcification, Idiopathic, 2
Basal Ganglia Calcification, Idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 5
Basal Ganglia Calcification, Idiopathic, 6

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification 30.7 SLC20A2 SNTG1
2 basal ganglia calcification, idiopathic, childhood-onset 11.9
3 basal ganglia calcification, idiopathic, 1 11.3
4 basal ganglia calcification, idiopathic, 2 11.3
5 senile plaque formation 10.4 APOE APP
6 simultanagnosia 10.2 APOE MAPT
7 posterior cortical atrophy 10.2 APOE MAPT
8 leukoencephalopathy, hereditary diffuse, with spheroids 10.2 APP MAPT
9 hemorrhage, intracerebral 10.2 APOE APP
10 communicating hydrocephalus 10.1 APOE MAPT
11 hydrocephalus, normal-pressure 10.1 APOE MAPT
12 alexia 10.0 APOE PSEN1
13 progressive non-fluent aphasia 10.0 MAPT PSEN1
14 behavioral variant of frontotemporal dementia 10.0 MAPT PSEN1
15 niemann-pick disease, type c1 10.0 APP MAPT
16 schizophrenia 10.0
17 diabetes mellitus 10.0
18 dystonia 10.0
19 echolalia 9.9 MAPT PSEN1
20 visual agnosia 9.9 PSEN1 PSEN2
21 agraphia 9.9 MAPT PSEN1
22 brain injury 9.9 APOE MAPT
23 ideomotor apraxia 9.8 MAPT PSEN1
24 nominal aphasia 9.8 MAPT PSEN1
25 binswanger's disease 9.8 APOE APP MAPT
26 inclusion body myositis 9.7 APOE APP MAPT
27 prion disease 9.7 APP MAPT
28 hydrocephalus 9.7 APOE APP MAPT
29 basal ganglia disease 9.7 MAPT PSEN1 SLC20A2
30 gait apraxia 9.7 APOE APP PSEN1
31 early-onset, autosomal dominant alzheimer disease 9.6 APP PSEN1 PSEN2
32 familial isolated dilated cardiomyopathy 9.6 PSEN1 PSEN2
33 kluver-bucy syndrome 9.6 APP MAPT PSEN1
34 amyloidosis 9.6 APOE APP PSEN1
35 early-onset familial alzheimer disease 9.6 APP PSEN1 PSEN2
36 alzheimer disease 4 9.5 APOE PSEN1 PSEN2
37 semantic dementia 9.5 APOE MAPT PSEN1
38 speech and communication disorders 9.5 APOE MAPT PSEN1
39 cerebral amyloid angiopathy, cst3-related 9.1 APOE APP MAPT PSEN1
40 pick disease of brain 9.1 APOE APP MAPT PSEN1
41 supranuclear palsy, progressive, 1 9.1 APOE APP MAPT PSEN1
42 vascular dementia 9.1 APOE APP MAPT PSEN1
43 dementia, lewy body 9.0 APOE APP MAPT PSEN1
44 disease of mental health 9.0 APOE APP MAPT PSEN1
45 parkinson disease, late-onset 8.9 APOE APP MAPT
46 aphasia 8.7 APOE APP MAPT PSEN1 SLC20A2
47 alzheimer disease 2 8.5 APOE APP MAPT PSEN1 PSEN2
48 central nervous system disease 8.5 APOE APP MAPT PSEN1 PSEN2
49 nervous system disease 8.5 APOE APP MAPT PSEN1 PSEN2
50 frontotemporal dementia 8.4 APOE APP MAPT PSEN1 PSEN2

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



Diseases related to Familial Idiopathic Basal Ganglia Calcification

Symptoms & Phenotypes for Familial Idiopathic Basal Ganglia Calcification

UMLS symptoms related to Familial Idiopathic Basal Ganglia Calcification:


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

MGI Mouse Phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 PSEN1 PSEN2 SLC20A2 APOE APP MAPT
2 integument MP:0010771 9.35 APOE APP MAPT PSEN1 PSEN2
3 vision/eye MP:0005391 9.02 APOE MAPT PSEN1 PSEN2 SLC20A2

Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

Search Clinical Trials , NIH Clinical Center for Familial Idiopathic Basal Ganglia Calcification

Genetic Tests for Familial Idiopathic Basal Ganglia Calcification

Anatomical Context for Familial Idiopathic Basal Ganglia Calcification

MalaCards organs/tissues related to Familial Idiopathic Basal Ganglia Calcification:

41
Brain, Cortex, Eye

Publications for Familial Idiopathic Basal Ganglia Calcification

Articles related to Familial Idiopathic Basal Ganglia Calcification:

(show all 26)
# Title Authors Year
1
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
2
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894 )
2017
3
Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. ( 26588638 )
2015
4
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128 )
2015
5
[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. ( 25636102 )
2015
6
Familial idiopathic basal ganglia calcification (Fahr`s disease). ( 24983277 )
2014
7
Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. ( 23934451 )
2013
8
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. ( 24142081 )
2013
9
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. ( 23334463 )
2013
10
Psychosis revealing familial idiopathic basal ganglia calcification. ( 23122487 )
2013
11
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. ( 23406454 )
2013
12
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. ( 23437308 )
2013
13
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. ( 24286000 )
2013
14
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. ( 23054591 )
2013
15
A comorbid case of familial Idiopathic Basal Ganglia Calcification (&amp;quot;FahrA's Disease&amp;quot;) associated with post-polio syndrome. ( 22772679 )
2012
16
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. ( 22327515 )
2012
17
Anticipation of familial idiopathic basal ganglia calcification? ( 22504267 )
2012
18
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. ( 22988575 )
2012
19
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). ( 20838928 )
2011
20
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. ( 19252803 )
2009
21
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. ( 18663732 )
2009
22
Updating genetic studies in familial idiopathic basal ganglia calcification. ( 19668038 )
2009
23
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). ( 15596772 )
2004
24
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. ( 11810290 )
2002
25
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. ( 11352376 )
2001
26
Familial idiopathic basal ganglia calcification exhibiting &amp;quot;dystonia musculorum deformans&amp;quot; features. ( 4448193 )
1974

Variations for Familial Idiopathic Basal Ganglia Calcification

Expression for Familial Idiopathic Basal Ganglia Calcification

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

Pathways for Familial Idiopathic Basal Ganglia Calcification

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 APOE APP MAPT PSEN1 PSEN2
2
Show member pathways
12.24 MAPT PSEN1 PSEN2
3 11.89 APOE APP MAPT PSEN1 PSEN2
4 11.7 APP PSEN1 PSEN2
5 11.26 APOE APP MAPT
7 11.21 APP MAPT
8 11.17 APP PSEN1 PSEN2
9 10.96 APOE APP
10 10.86 PSEN1 PSEN2
11 10.69 APP PSEN1 PSEN2
12 10.67 APOE APP MAPT PSEN1 PSEN2
13 10.02 PSEN1 PSEN2

GO Terms for Familial Idiopathic Basal Ganglia Calcification

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.71 APOE MAPT PSEN1 PSEN2
2 axon GO:0030424 9.67 APP MAPT PSEN1 PSEN2
3 membrane raft GO:0045121 9.63 APP PSEN1 PSEN2
4 smooth endoplasmic reticulum GO:0005790 9.43 APP PSEN1
5 neuromuscular junction GO:0031594 9.43 APP PSEN1 PSEN2
6 dendritic shaft GO:0043198 9.33 APP PSEN1 PSEN2
7 main axon GO:0044304 9.32 APP MAPT
8 growth cone GO:0030426 9.26 APP MAPT PSEN1 PSEN2
9 ciliary rootlet GO:0035253 8.8 APP PSEN1 PSEN2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.81 APOE APP MAPT
2 cellular protein metabolic process GO:0044267 9.8 APOE APP PSEN1
3 response to oxidative stress GO:0006979 9.74 APOE APP PSEN1
4 Notch signaling pathway GO:0007219 9.72 APP PSEN1 PSEN2
5 learning or memory GO:0007611 9.65 APP PSEN1
6 regulation of synaptic plasticity GO:0048167 9.65 MAPT PSEN1
7 cellular response to nerve growth factor stimulus GO:1990090 9.65 APP MAPT
8 neuron apoptotic process GO:0051402 9.64 APP PSEN1
9 positive regulation of phosphorylation GO:0042327 9.63 APP PSEN1
10 cellular response to amyloid-beta GO:1904646 9.62 APP PSEN1
11 positive regulation of dendritic spine development GO:0060999 9.62 APOE PSEN1
12 membrane protein ectodomain proteolysis GO:0006509 9.61 PSEN1 PSEN2
13 regulation of protein binding GO:0043393 9.61 APP PSEN1
14 response to lead ion GO:0010288 9.6 APP MAPT
15 membrane protein intracellular domain proteolysis GO:0031293 9.59 PSEN1 PSEN2
16 Notch receptor processing GO:0007220 9.58 PSEN1 PSEN2
17 amyloid-beta metabolic process GO:0050435 9.58 PSEN1 PSEN2
18 Notch receptor processing, ligand-dependent GO:0035333 9.56 PSEN1 PSEN2
19 amyloid precursor protein metabolic process GO:0042982 9.54 APOE PSEN1
20 amyloid fibril formation GO:1990000 9.52 APP MAPT
21 negative regulation of long-term synaptic potentiation GO:1900272 9.51 APOE APP
22 synapse organization GO:0050808 9.5 APP MAPT PSEN1
23 amyloid precursor protein catabolic process GO:0042987 9.49 PSEN1 PSEN2
24 modulation of age-related behavioral decline GO:0090647 9.48 APP PSEN1
25 neuron projection maintenance GO:1990535 9.46 APP PSEN1
26 positive regulation of catalytic activity GO:0043085 9.46 APOE MIA2 PSEN1 PSEN2
27 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 APP PSEN1
28 astrocyte activation involved in immune response GO:0002265 9.4 APP PSEN1
29 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.37 APP PSEN1
30 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.26 APP PSEN1
31 astrocyte activation GO:0048143 9.13 APP MAPT PSEN1
32 positive regulation of amyloid fibril formation GO:1905908 8.8 APOE APP PSEN1

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

# Name GO ID Score Top Affiliating Genes
1 aspartic-type endopeptidase activity GO:0004190 9.16 PSEN1 PSEN2
2 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.96 PSEN1 PSEN2
3 lipoprotein particle binding GO:0071813 8.62 APOE MAPT

Sources for Familial Idiopathic 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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