BSPDC
MCID: FML043
MIFTS: 61

Familial Idiopathic Basal Ganglia Calcification (BSPDC) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Familial Idiopathic Basal Ganglia Calcification

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NINDS:43 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 frontotemporal dementia and dementia, and has symptoms including microcephaly, purpura/petichiae and hepatomegaly/liver enlargement (excluding storage disease). 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 Osteoblast Signaling and PDGFR-beta signaling pathway. 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 craniofacial and other.

NIH Rare Diseases:42 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

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.

Descriptions from OMIM:46 213600,606656,615007,615483

Aliases & Classifications for Familial Idiopathic Basal Ganglia Calcification

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 62UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Familial Idiopathic Basal Ganglia Calcification, Aliases & Descriptions:

Name: Familial Idiopathic Basal Ganglia Calcification 42 21 43 62
Bilateral Striopallidodentate Calcinosis 42 21 48 62
Cerebrovascular Ferrocalcinosis 21 48 62
Fibgc 42 21 62
Idiopathic Basal Ganglia Calcification 1 42 62
Striopallidodentate Calcinosis 21 62
Bspdc 42 48
Ibgc1 42 62
 
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 42
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 42
Basal Ganglia Calcification, Idiopathic, 1 46
Idiopathic Basal Ganglia Calcification 48
Primary Familial Brain Calcification 42
Ferrocalcinosis, Cerebrovascular 42
Fahr Disease, Familial 42
Fahr's Syndrome 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood


External Ids:

ICD10 via Orphanet26 G23.8
UMLS via Orphanet63 C0393590

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, 5

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia30.8PSEN1, MAPT
2dementia30.1APP, PSEN1, PSEN2, MAPT
3calcinosis10.8
4primary familial brain calcification10.6
5schizophrenia10.4
6dystonia10.4
7semantic dementia10.4MAPT
8primary familial brain calcification 110.4
9primary familial brain calcification 210.4
10primary familial brain calcification 310.4
11primary familial brain calcification 410.4
12bipolar disorder10.3
13glomerulonephritis10.3
14membranoproliferative glomerulonephritis10.3
15mood disorder10.3
16chorea10.3
17paroxysmal choreoathetosis10.3
18hypoparathyroidism10.3
19migraine10.3
20psoriasis10.3
21idiopathic basal ganglia calcification childhood-onset10.3
22generalized pustular psoriasis10.3
23fahr's syndrome10.3
24syncope10.3
25aicardi-goutieres syndrome 1, dominant and recessive10.3
26pick's disease10.2PSEN1, MAPT
27inclusion body myositis10.1APP, MAPT
28niemann-pick disease type c110.1APP, MAPT
29progressive supranuclear palsy10.1MAPT, APP
30basal ganglia calcification, idiopathic, 410.1
31basal ganglia calcification, idiopathic, 510.1
32lewy body dementia10.1APP, MAPT
33creutzfeldt-jakob disease10.1APP, MAPT
34desmoid tumor10.0PDGFRB, PDGFB
35brain ischemia10.0APP, MAPT
36meningioma10.0PDGFB, PDGFRB
37dermatofibrosarcoma protuberans10.0PDGFRB, PDGFB
38alzheimer disease type 110.0PSEN2, PSEN1, APP
39central nervous system disease10.0MAPT, APP
40hemorrhage, intracerebral10.0APP, PSEN1, PSEN2
41cerebral amyloid angiopathy9.9MAPT, PSEN1, APP
42renal fibrosis9.9PDGFB, PDGFRB
43vascular dementia9.9APP, PSEN1, MAPT
44tauopathy9.9APP, PSEN1, MAPT
45memory impairment9.9APP, PSEN1, MAPT
46myositis9.9MAPT, PSEN1, APP
47brain disease9.9APP, PSEN1, MAPT
48teratocarcinoma9.9MAPT, PSEN1, APP
49amyotrophic lateral sclerosis type 149.9MAPT, PSEN1, APP
50esophageal cancer9.9PDGFB, PDGFRB

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 by clinical synopsis from OMIM:

213600

Clinical features from OMIM:

213600,606656,615007,615483

Symptoms:

48 (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 35)
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
11 autosomal dominant inheritance HP:0000006
12 urinary incontinence HP:0000020
13 mask-like facies HP:0000298
14 psychosis HP:0000709
15 depression HP:0000716
16 dysarthria HP:0001260
17 mental deterioration HP:0001268
18 gait disturbance HP:0001288
19 parkinsonism HP:0001300
20 dystonia HP:0001332
21 tremor HP:0001337
22 hyperreflexia HP:0001347
23 rigidity HP:0002063
24 bradykinesia HP:0002067
25 chorea HP:0002072
26 dysdiadochokinesis HP:0002075
27 basal ganglia calcification HP:0002135
28 postural instability HP:0002172
29 athetosis HP:0002305
30 memory impairment HP:0002354
31 limb dysmetria HP:0002406
32 dense calcifications in the cerebellar dentate nucleus HP:0002461
33 calcification of the small brain vessels HP:0002504
34 adult onset HP:0003581
35 progressive disorder HP:0003676

Drugs & Therapeutics for Familial Idiopathic Basal Ganglia Calcification

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Drug clinical trials:

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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:

32
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:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7SLC20A2, PDGFRB, PSEN2, PSEN1
2MP:00053958.5APP, PSEN1, MAPT
3MP:00053678.3PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
4MP:00053978.1PDGFB, PDGFRB, MAPT, PSEN2, PSEN1
5MP:00053918.0SLC20A2, PDGFB, PDGFRB, MAPT, PSEN2, PSEN1
6MP:00053697.9APP, PSEN1, MAPT, PDGFRB, PDGFB
7MP:00028737.8APP, PSEN1, PSEN2, MAPT, PDGFRB
8MP:00053767.6SLC20A2, PDGFB, PDGFRB, PSEN2, PSEN1, APP
9MP:00107717.5APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
10MP:00053877.4APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
11MP:00036317.4APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
12MP:00053787.2APP, PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
13MP:00107687.0APP, 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 19)
idTitleAuthorsYear
1
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
2
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
3
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
4
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification. (23437308)
2013
5
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. (23406454)
2013
6
Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. (23934451)
2013
7
Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders. (24142081)
2013
8
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
9
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
10
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. (22988575)
2012
11
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. (22327515)
2012
12
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
13
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
14
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
15
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
16
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
17
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
18
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
19
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Familial Idiopathic Basal Ganglia Calcification

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UniProtKB/Swiss-Prot genetic disease variations for Familial Idiopathic Basal Ganglia Calcification:

64
id Symbol AA change Variation ID SNP ID
1SLC20A2p.Gly498ArgVAR_067546
2SLC20A2p.Glu575LysVAR_067547
3SLC20A2p.Thr595MetVAR_067548
4SLC20A2p.Ser601LeuVAR_067549
5SLC20A2p.Ser601TrpVAR_067550

Clinvar genetic disease variations for Familial Idiopathic Basal Ganglia Calcification:

6 (show all 16)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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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/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PDGFRB, PDGFB
29.7PDGFRB, PDGFB
3
Show member pathways
PDGF Pathway37
9.7PDGFB, PDGFRB
49.7PDGFB, PDGFRB
59.5PSEN1, PSEN2
6
Show member pathways
9.2PSEN2, PDGFRB, PDGFB
7
Show member pathways
9.2PDGFB, PDGFRB, PSEN2
8
Show member pathways
9.1PSEN1, APP
9
Show member pathways
MAPK signaling pathway37
9.1PDGFB, PDGFRB, MAPT
10
Show member pathways
8.7PSEN1, PSEN2, PDGFRB, PDGFB
11
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.7PSEN1, PSEN2, PDGFRB, PDGFB
128.7PSEN2, PSEN1, APP
138.7APP, PSEN1, PSEN2
14
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
8.7PSEN2, PSEN1, APP
158.4PDGFB, PDGFRB, PSEN2, APP
16
Show member pathways
8.2PDGFB, PDGFRB, MAPT, APP
17
Show member pathways
Alzheimers Disease37
8.1MAPT, PSEN2, PSEN1, APP
188.1MAPT, PSEN2, PSEN1, APP
197.6PDGFRB, 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/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride6110.1PDGFRB, PDGFB
2su 16f6110.1PDGFRB, PDGFB
3su 66686110.1PDGFRB, PDGFB
4sunitinib malate6110.1PDGFRB, PDGFB
5s-182449.9PSEN1, PSEN2
6mrk 560619.9PSEN1, PSEN2
7jlk 6619.9PSEN1, PSEN2
8begacestat619.9PSEN1, PSEN2
9l-685,458619.9PSEN1, PSEN2
10dapt619.9PSEN1, PSEN2
11ab-42449.6APP, PSEN2
12bromodeoxyuridine449.5PSEN1, PDGFRB, PDGFB
13ribonucleic acid449.5PDGFB, PDGFRB, PSEN2
14thioflavin449.4APP, MAPT
15spec-t449.4MAPT, PSEN1
16thioflavine s449.4MAPT, APP
17tacrine44 1110.4MAPT, APP
18donepezil44 50 24 1112.4MAPT, APP
19memantine44 28 50 1112.4APP, MAPT
20galantamine44 50 1111.3APP, MAPT
21formate449.2APP, MAPT
22methionine449.2PDGFRB, MAPT, PSEN1
23oligonucleotide449.0PSEN1, PSEN2, PDGFRB, PDGFB
24paraffin449.0PSEN2, MAPT, PDGFRB, PDGFB
25valproate448.9MAPT, APP
26proline448.9PDGFRB, MAPT, PSEN1
27oxygen44 249.9PDGFB, PDGFRB, PSEN2, PSEN1
28cycloheximide448.9PSEN1, PSEN2, MAPT, PDGFB
29carbachol44 28 1110.9APP, PSEN1, MAPT
30folate448.8MAPT, PSEN1, APP
31estrogen448.8PSEN2, MAPT, PDGFRB, PDGFB
32nmda44 289.7APP, PSEN1, MAPT
33vegf448.7PDGFB, PDGFRB, PSEN2, APP
34genistein44 28 61 2 24 1113.7PDGFRB, MAPT, PSEN2
35cholesterol44 28 24 1111.6PDGFRB, PSEN2, PSEN1, APP
36paclitaxel44 50 1110.6APP, PSEN2, MAPT, PDGFRB
37actinomycin d448.6APP, PSEN2, MAPT
384-hydroxynonenal44 249.6PDGFRB, MAPT, PSEN1, APP
39lactacystin448.5APP, PSEN1, PSEN2, MAPT
40choline44 24 1110.5MAPT, PSEN2, PSEN1, APP
41valine448.5APP, PSEN1, PSEN2, MAPT
42arginine448.5APP, PSEN1, MAPT, SLC20A2
43glucose448.5PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
44aspartate448.4APP, PSEN1, PSEN2, MAPT
45glutamate448.3APP, PSEN1, PSEN2, MAPT
46alanine448.2APP, PSEN1, MAPT, PDGFRB, SLC20A2
47cysteine448.2PDGFRB, MAPT, PSEN1, APP
48h2o2448.1PDGFRB, MAPT, PSEN2, PSEN1, APP
49retinoic acid44 249.0APP, PSEN1, PSEN2, MAPT, PDGFRB
50serine447.4APP, 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/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:0007769.2PSEN2, PSEN1
2platelet alpha granule lumenGO:0310939.2PDGFB, APP
3apical plasma membraneGO:0163249.2PDGFRB, PSEN2, PSEN1
4Golgi membraneGO:0001399.1PDGFB, PSEN2, PSEN1
5growth coneGO:0304269.0PSEN1, PSEN2, MAPT
6ciliary rootletGO:0352538.9PSEN2, PSEN1, APP
7dendritic shaftGO:0431988.9APP, PSEN1, PSEN2
8neuromuscular junctionGO:0315948.9PSEN2, PSEN1, APP
9cell surfaceGO:0099868.5PDGFB, PSEN2, PSEN1, APP
10integral component of plasma membraneGO:0058878.4APP, PSEN1, PSEN2, SLC20A2
11axonGO:0304248.3MAPT, PSEN2, PSEN1, APP

Biological processes related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:07226210.1PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:03579310.1PDGFRB, PDGFB
3positive regulation of DNA biosynthetic processGO:200057310.1PDGFRB, PDGFB
4positive regulation of calcium ion importGO:09028010.1PDGFRB, PDGFB
5positive regulation of chemotaxisGO:05092110.1PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:01491110.1PDGFB, PDGFRB
7positive regulation of phosphatidylinositol 3-kinase activityGO:04355210.0PDGFB, PDGFRB
8positive regulation of reactive oxygen species metabolic processGO:200037910.0PDGFRB, PDGFB
9platelet-derived growth factor receptor signaling pathwayGO:04800810.0PDGFRB, PDGFB
10positive regulation of mitosisGO:04584010.0PDGFB, PDGFRB
11positive regulation of coagulationGO:0508209.9PSEN2, PSEN1
12myeloid leukocyte differentiationGO:0025739.9PSEN1, PSEN2
13amyloid precursor protein catabolic processGO:0429879.9PSEN1, PSEN2
14endoplasmic reticulum calcium ion homeostasisGO:0324699.9PSEN1, PSEN2
15beta-amyloid metabolic processGO:0504359.9PSEN2, PSEN1
16anagenGO:0426409.9PSEN1, PSEN2
17dorsal/ventral neural tube patterningGO:0219049.9PSEN1, PSEN2
18brain morphogenesisGO:0488549.9PSEN1, PSEN2
19skeletal system morphogenesisGO:0487059.9PDGFRB, PSEN1
20hematopoietic progenitor cell differentiationGO:0022449.9PSEN1, PSEN2
21cell fate specificationGO:0017089.9PSEN1, PSEN2
22T cell activation involved in immune responseGO:0022869.9PSEN2, PSEN1
23membrane protein ectodomain proteolysisGO:0065099.8PSEN2, PSEN1
24Notch receptor processingGO:0072209.8PSEN1, PSEN2
25positive regulation of smooth muscle cell proliferationGO:0486619.8PDGFB, PDGFRB
26cell chemotaxisGO:0603269.8PDGFRB, PDGFB
27protein processingGO:0164859.8PSEN2, PSEN1
28regulation of synaptic plasticityGO:0481679.8PSEN1, PSEN2
29thymus developmentGO:0485389.7PSEN2, PSEN1
30somitogenesisGO:0017569.7PSEN1, PSEN2
31positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.7PDGFB, PDGFRB
32response to estradiolGO:0323559.7PDGFB, PDGFRB
33embryonic limb morphogenesisGO:0303269.7PSEN2, PSEN1
34regulation of epidermal growth factor-activated receptor activityGO:0071769.6PSEN2, APP
35positive regulation of MAP kinase activityGO:0434069.6PSEN1, PDGFRB, PDGFB
36smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.6PSEN1, APP
37memoryGO:0076139.6PSEN2, PSEN1
38neurotrophin TRK receptor signaling pathwayGO:0480119.5PDGFB, PDGFRB, PSEN2
39regulation of protein bindingGO:0433939.5APP, PSEN1
40axon cargo transportGO:0080889.4APP, MAPT
41positive regulation of catalytic activityGO:0430859.4CTAGE5, PSEN2, PSEN1
42neuron apoptotic processGO:0514029.4APP, PSEN1
43calcium ion transportGO:0068169.2PSEN2, PSEN1
44forebrain developmentGO:0309009.1APP, PSEN2
45Notch signaling pathwayGO:0072199.1APP, PSEN1, PSEN2
46extracellular matrix organizationGO:0301989.0PDGFB, PSEN1, APP

Molecular functions related to Familial Idiopathic Basal Ganglia Calcification according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:0484079.7PDGFB, PDGFRB
2platelet-derived growth factor receptor bindingGO:0051619.6PDGFB, PDGFRB
3endopeptidase activityGO:0041759.5PSEN2, PSEN1
4aspartic-type endopeptidase activityGO:0041909.2PSEN2, PSEN1

Products for genes affiliated with Familial Idiopathic Basal Ganglia Calcification

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Idiopathic Basal Ganglia Calcification

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet