MCID: FML043
MIFTS: 52

Familial Idiopathic Basal Ganglia Calcification malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Familial Idiopathic Basal Ganglia Calcification

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Familial Idiopathic Basal Ganglia Calcification, Aliases & Descriptions:

Name: Familial Idiopathic Basal Ganglia Calcification 41 21 42
Bilateral Striopallidodentate Calcinosis 41 21 47
Cerebrovascular Ferrocalcinosis 41 21 47
Idiopathic Basal Ganglia Calcification 41 47
Bspdc 41 47
Fibgc 41 21
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 41
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 41
 
Idiopathic Basal Ganglia Calcification 1 41
Primary Familial Brain Calcification 41
Ferrocalcinosis, Cerebrovascular 41
Striopallidodentate Calcinosis 21
Fahr Disease, Familial 41
Fahr's Syndrome 60
Ibgc1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

Orphanet47 1980
ICD10 via Orphanet26 G23.8
UMLS via Orphanet61 C0393590

Summaries for Familial Idiopathic Basal Ganglia Calcification

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NINDS:42 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, (poorly articulated speech), (stiffness of the limbs) and spastic paralysis, eye impairments, and (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 dementia and basal ganglia calcification, and has symptoms including microcephaly, seizures and intrauterine growth retardation. An important gene associated with Familial Idiopathic Basal Ganglia Calcification is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2), and among its related pathways are G protein signaling H RAS regulation pathway and Cytoskeleton remodeling Role of PDGFs in cell migration. The compounds dmpq dihydrochloride and su 16f have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are other and craniofacial.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 Familial idiopathic basal ganglia calcification (fibgc) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. the first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia), involuntary movements, muscle cramping. neuropsychiatric symptoms may include mild difficulty with concentration and memory, changes in personality behavior, or ) and dementia. seizures of various types frequently occur. symptoms typically start in an individual's 20's to 40's but may begin at any age.the neuropsychiatric symptoms and movement disorders worsen over time. mutations in the slc20a2 and pdgfrb genes have been found to cause fibgc, and this condition is inherited in an autosomal dominant manner. last updated: 10/18/2013

Related Diseases for Familial Idiopathic Basal Ganglia Calcification

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Diseases in the Familial Idiopathic Basal Ganglia Calcification family:

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

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1dementia30.1MAPT, PSEN2, PSEN1, APP
2basal ganglia calcification11.1
3calcinosis10.8
4primary familial brain calcification10.7
5primary familial brain calcification 110.4
6primary familial brain calcification 210.4
7primary familial brain calcification 310.4
8primary familial brain calcification 410.4
9schizophrenia10.4
10basal ganglia calcification, idiopathic, 210.4
11basal ganglia calcification, idiopathic, 110.4
12dystonia10.4
13semantic dementia10.4MAPT
14migraine10.3
15hypoparathyroidism10.3
16psoriasis10.3
17syncope10.3
18bipolar disorder10.3
19glomerulonephritis10.3
20membranoproliferative glomerulonephritis10.3
21mood disorder10.3
22paroxysmal choreoathetosis10.3
23dementia, frontotemporal10.2PSEN1, MAPT
24pick disease10.2MAPT, PSEN1
25inclusion body myositis10.1MAPT, APP
26niemann-pick disease, type c110.1MAPT, APP
27supranuclear palsy, progressive10.1MAPT, APP
28dementia, lewy body10.1APP, MAPT
29creutzfeldt-jakob disease10.1APP, MAPT
30basal ganglia calcification, idiopathic, 410.0
31basal ganglia calcification, idiopathic, 510.0
32desmoid disease, hereditary10.0PDGFRB, PDGFB
33brain ischemia10.0MAPT, APP
34meningioma, familial10.0PDGFB, PDGFRB
35dermatofibrosarcoma protuberans10.0PDGFRB, PDGFB
36alzheimer disease type 110.0APP, PSEN1, PSEN2
37central nervous system disease10.0APP, MAPT
38hemorrhage, intracerebral10.0APP, PSEN1, PSEN2
39renal fibrosis9.9PDGFRB, PDGFB
40cerebral amyloid angiopathy9.9PSEN1, APP, MAPT
41tauopathy9.9MAPT, PSEN1, APP
42vascular dementia9.9MAPT, PSEN1, APP
43myositis9.9APP, PSEN1, MAPT
44brain disease9.9MAPT, APP, PSEN1
45teratocarcinoma9.9PSEN1, MAPT, APP
46amyotrophic lateral sclerosis 19.9APP, PSEN1, MAPT
47esophageal cancer9.9PDGFRB, PDGFB
48parkinson disease, late-onset9.8APP, PSEN1, MAPT
49toxic encephalopathy9.8MAPT, APP
50alzheimer disease-29.8MAPT, PSEN1, PSEN2, APP

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



Diseases related to familial idiopathic basal ganglia calcification

Symptoms for Familial Idiopathic Basal Ganglia Calcification

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Symptoms:

 47 (show all 12)
  • microcephaly
  • purpura/petichiae
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • intrauterine growth retardation
  • corneal clouding/opacity/vascularisation
  • structural anomalies of the liver and the biliary tract

HPO human phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

(show all 10)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 seizures hallmark (90%) HP:0001250
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 thrombocytopenia hallmark (90%) HP:0001873
5 subcutaneous hemorrhage hallmark (90%) HP:0001933
6 ventriculomegaly hallmark (90%) HP:0002119
7 hepatomegaly hallmark (90%) HP:0002240
8 abnormality of neuronal migration hallmark (90%) HP:0002269
9 cerebral calcification hallmark (90%) HP:0002514
10 opacification of the corneal stroma typical (50%) HP:0007759

Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

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Drug clinical trials:

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Search NIH Clinical Center for Familial Idiopathic Basal Ganglia Calcification

Genetic Tests for Familial Idiopathic Basal Ganglia Calcification

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Anatomical Context for Familial Idiopathic Basal Ganglia Calcification

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

31
Brain, Eye, Cortex, Liver

Animal Models for Familial Idiopathic Basal Ganglia Calcification or affiliated genes

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MGI Mouse Phenotypes related to Familial Idiopathic Basal Ganglia Calcification:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.9APP, PSEN1, MAPT
2MP:00053828.8SLC20A2, PDGFRB, PSEN2, PSEN1
3MP:00053678.6PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
4MP:00053978.4PDGFB, PDGFRB, MAPT, PSEN2, PSEN1
5MP:00053698.4APP, PSEN1, MAPT, PDGFRB, PDGFB
6MP:00053918.3SLC20A2, PDGFB, PDGFRB, MAPT, PSEN2, PSEN1
7MP:00028738.2APP, PSEN1, PSEN2, MAPT, PDGFRB
8MP:00053768.0SLC20A2, PDGFB, PDGFRB, PSEN2, PSEN1, APP
9MP:00107718.0APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
10MP:00053877.9APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
11MP:00036317.9APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
12MP:00053787.7APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
13MP:00107687.4APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB

Publications for Familial Idiopathic Basal Ganglia Calcification

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Articles related to Familial Idiopathic Basal Ganglia Calcification:

(show all 21)
idTitleAuthorsYear
1
Familial idiopathic basal ganglia calcification (Fahr`s disease). (24983277)
2014
2
Psychosis revealing familial idiopathic basal ganglia calcification. (23122487)
2013
3
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
4
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
5
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
6
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. (23437308)
2013
7
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. (23406454)
2013
8
Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. (23934451)
2013
9
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. (24142081)
2013
10
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
11
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
12
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. (22988575)
2012
13
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. (22327515)
2012
14
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
15
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
16
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
17
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
18
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
19
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
20
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
21
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Familial Idiopathic Basal Ganglia Calcification

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Clinvar genetic disease variations for Familial Idiopathic Basal Ganglia Calcification:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.2083C> T (p.Arg695Cys)single nucleotide variantLikely pathogenicGRCh38Chr 5, 150123142: 150123142
2SLC20A2SLC20A2, GLY498ARGsingle nucleotide variantPathogenic
3SLC20A2NM_006749.4(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
4SLC20A2NM_006749.4(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
5SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
6SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
7PDGFRBNM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro)single nucleotide variantPathogenicrs397509381GRCh37Chr 5, 149503863: 149503863
8PDGFRBNM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp)single nucleotide variantPathogenicrs397509382GRCh37Chr 5, 149497359: 149497359
9SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
10SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
11SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444
12PDGFBNM_002608.2(PDGFB): c.433C> T (p.Gln145Ter)single nucleotide variantPathogenicrs397515631GRCh37Chr 22, 39627650: 39627650
13PDGFBNM_002608.2(PDGFB): c.356T> C (p.Leu119Pro)single nucleotide variantPathogenicrs397515632GRCh37Chr 22, 39627727: 39627727
14PDGFBNM_002608.2(PDGFB): c.726G> C (p.Ter242Tyr)single nucleotide variantPathogenicrs398122398GRCh37Chr 22, 39621728: 39621728
15PDGFBNM_002608.2(PDGFB): c.445C> T (p.Arg149Ter)single nucleotide variantPathogenicrs397515633GRCh37Chr 22, 39627638: 39627638
16PDGFBNM_002608.2(PDGFB): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs398122399GRCh37Chr 22, 39639966: 39639966

Expression for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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

Pathways for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PDGFB, PDGFRB
2
Show member pathways
PDGF Pathway36
9.8PDGFB, PDGFRB
39.8PDGFRB, PDGFB
49.8PDGFRB, PDGFB
59.6PSEN1, PSEN2
6
Show member pathways
9.4PSEN1, APP
7
Show member pathways
9.3PDGFB, PDGFRB, PSEN2
8
Show member pathways
9.3PSEN2, PDGFRB, PDGFB
9
Show member pathways
MAPK signaling pathway36
9.2PDGFB, PDGFRB, MAPT
109.0PSEN2, PSEN1, APP
119.0APP, PSEN1, PSEN2
12
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.0PSEN2, PSEN1, APP
13
Show member pathways
8.9PSEN1, PSEN2, PDGFRB, PDGFB
14
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.9PSEN1, PSEN2, PDGFRB, PDGFB
158.7PDGFB, PDGFRB, PSEN2, APP
16
Show member pathways
8.6PDGFB, PDGFRB, MAPT, APP
17
Show member pathways
Alzheimers Disease36
8.5MAPT, PSEN2, PSEN1, APP
188.5MAPT, PSEN2, PSEN1, APP
198.1PDGFRB, MAPT, PSEN2, PSEN1, APP

Compounds for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride5910.2PDGFRB, PDGFB
2su 16f5910.1PDGFRB, PDGFB
3su 66685910.1PDGFRB, PDGFB
4sunitinib malate5910.1PDGFRB, PDGFB
5s-1824310.0PSEN1, PSEN2
6mrk 5605910.0PSEN1, PSEN2
7jlk 65910.0PSEN1, PSEN2
8begacestat5910.0PSEN1, PSEN2
9l-685,4585910.0PSEN1, PSEN2
10dapt5910.0PSEN1, PSEN2
11ab-42439.9APP, PSEN2
12thioflavin439.8APP, MAPT
13thioflavine s439.7MAPT, APP
14tacrine43 1210.7MAPT, APP
15donepezil43 49 24 1212.7MAPT, APP
16memantine43 28 49 1212.7APP, MAPT
17bromodeoxyuridine439.7PSEN1, PDGFRB, PDGFB
18galantamine43 49 1211.6APP, MAPT
19spec-t439.6MAPT, PSEN1
20ribonucleic acid439.6PDGFB, PDGFRB, PSEN2
21formate439.5APP, MAPT
22methionine439.4PDGFRB, MAPT, PSEN1
23valproate439.2MAPT, APP
24carbachol43 28 1211.2APP, PSEN1, MAPT
25paraffin439.2PSEN2, MAPT, PDGFRB, PDGFB
26folate439.2MAPT, PSEN1, APP
27oligonucleotide439.2PSEN1, PSEN2, PDGFRB, PDGFB
28proline439.1PDGFRB, MAPT, PSEN1
29cycloheximide439.1PSEN1, PSEN2, MAPT, PDGFB
30nmda43 2810.1APP, PSEN1, MAPT
31oxygen43 2410.1PDGFB, PDGFRB, PSEN2, PSEN1
32vegf439.0PDGFB, PDGFRB, PSEN2, APP
33estrogen439.0PSEN2, MAPT, PDGFRB, PDGFB
34paclitaxel43 49 1211.0APP, PSEN2, MAPT, PDGFRB
354-hydroxynonenal43 2410.0PDGFRB, MAPT, PSEN1, APP
36cholesterol43 28 24 1211.9PDGFRB, PSEN2, PSEN1, APP
37actinomycin d438.9APP, PSEN2, MAPT
38lactacystin438.9APP, PSEN1, PSEN2, MAPT
39choline43 24 1210.9MAPT, PSEN2, PSEN1, APP
40valine438.9APP, PSEN1, PSEN2, MAPT
41genistein43 28 59 2 24 1213.9PDGFRB, MAPT, PSEN2
42aspartate438.8APP, PSEN1, PSEN2, MAPT
43arginine438.8APP, PSEN1, MAPT, SLC20A2
44glucose438.7PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
45glutamate438.7APP, PSEN1, PSEN2, MAPT
46alanine438.6APP, PSEN1, MAPT, PDGFRB, SLC20A2
47cysteine438.6PDGFRB, MAPT, PSEN1, APP
48h2o2438.5PDGFRB, MAPT, PSEN2, PSEN1, APP
49retinoic acid43 249.5APP, PSEN1, PSEN2, MAPT, PDGFRB
50serine437.9APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB

GO Terms for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.4PDGFB, APP
2kinetochoreGO:00007769.3PSEN2, PSEN1
3apical plasma membraneGO:00163249.3PDGFRB, PSEN2, PSEN1
4Golgi membraneGO:00001399.3PDGFB, PSEN2, PSEN1
5ciliary rootletGO:00352539.2PSEN2, PSEN1, APP
6growth coneGO:00304269.2PSEN1, PSEN2, MAPT
7dendritic shaftGO:00431989.2APP, PSEN1, PSEN2
8neuromuscular junctionGO:00315949.2PSEN2, PSEN1, APP
9cell surfaceGO:00099868.8PDGFB, PSEN2, PSEN1, APP
10axonGO:00304248.7MAPT, PSEN2, PSEN1, APP
11integral component of plasma membraneGO:00058878.7APP, PSEN1, PSEN2, SLC20A2

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

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:007226210.2PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.2PDGFRB, PDGFB
3positive regulation of DNA biosynthetic processGO:0200057310.2PDGFRB, PDGFB
4positive regulation of calcium ion importGO:009028010.2PDGFRB, PDGFB
5positive regulation of chemotaxisGO:005092110.2PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:001491110.1PDGFB, PDGFRB
7positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.1PDGFB, PDGFRB
8positive regulation of reactive oxygen species metabolic processGO:0200037910.1PDGFRB, PDGFB
9platelet-derived growth factor receptor signaling pathwayGO:004800810.1PDGFRB, PDGFB
10positive regulation of coagulationGO:005082010.1PSEN2, PSEN1
11positive regulation of mitosisGO:004584010.0PDGFB, PDGFRB
12myeloid leukocyte differentiationGO:000257310.0PSEN1, PSEN2
13amyloid precursor protein catabolic processGO:004298710.0PSEN1, PSEN2
14endoplasmic reticulum calcium ion homeostasisGO:003246910.0PSEN1, PSEN2
15beta-amyloid metabolic processGO:005043510.0PSEN2, PSEN1
16anagenGO:004264010.0PSEN1, PSEN2
17dorsal/ventral neural tube patterningGO:002190410.0PSEN1, PSEN2
18brain morphogenesisGO:004885410.0PSEN1, PSEN2
19hematopoietic progenitor cell differentiationGO:000224410.0PSEN1, PSEN2
20cell fate specificationGO:000170810.0PSEN1, PSEN2
21skeletal system morphogenesisGO:004870510.0PDGFRB, PSEN1
22T cell activation involved in immune responseGO:000228610.0PSEN2, PSEN1
23membrane protein ectodomain proteolysisGO:000650910.0PSEN2, PSEN1
24Notch receptor processingGO:000722010.0PSEN1, PSEN2
25protein processingGO:00164859.9PSEN2, PSEN1
26positive regulation of smooth muscle cell proliferationGO:00486619.9PDGFB, PDGFRB
27regulation of synaptic plasticityGO:00481679.9PSEN1, PSEN2
28cell chemotaxisGO:00603269.9PDGFRB, PDGFB
29regulation of epidermal growth factor-activated receptor activityGO:00071769.9PSEN2, APP
30smooth endoplasmic reticulum calcium ion homeostasisGO:00515639.8PSEN1, APP
31thymus developmentGO:00485389.8PSEN2, PSEN1
32somitogenesisGO:00017569.8PSEN1, PSEN2
33embryonic limb morphogenesisGO:00303269.8PSEN2, PSEN1
34regulation of protein bindingGO:00433939.8APP, PSEN1
35positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8PDGFB, PDGFRB
36response to estradiolGO:00323559.8PDGFB, PDGFRB
37axon cargo transportGO:00080889.7APP, MAPT
38positive regulation of MAP kinase activityGO:00434069.7PSEN1, PDGFRB, PDGFB
39memoryGO:00076139.7PSEN2, PSEN1
40neuron apoptotic processGO:00514029.7APP, PSEN1
41neurotrophin TRK receptor signaling pathwayGO:00480119.6PDGFB, PDGFRB, PSEN2
42positive regulation of catalytic activityGO:00430859.5CTAGE5, PSEN2, PSEN1
43Notch signaling pathwayGO:00072199.4APP, PSEN1, PSEN2
44forebrain developmentGO:00309009.3APP, PSEN2
45calcium ion transportGO:00068169.3PSEN2, PSEN1
46extracellular matrix organizationGO:00301989.3PDGFB, PSEN1, APP

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.8PDGFB, PDGFRB
2platelet-derived growth factor receptor bindingGO:00051619.7PDGFB, PDGFRB
3endopeptidase activityGO:00041759.6PSEN2, PSEN1
4aspartic-type endopeptidase activityGO:00041909.3PSEN2, PSEN1

Products for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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  • Proteins
  • Kits and Assays

Sources for Familial Idiopathic Basal Ganglia Calcification

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet