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:
42NIH Rare Diseases, 48Orphanet, 21Genetics Home Reference, 43NINDS, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Familial Idiopathic Basal Ganglia Calcification:

Name: Familial Idiopathic Basal Ganglia Calcification 42 21 43
Bilateral Striopallidodentate Calcinosis 42 21 48
Cerebrovascular Ferrocalcinosis 42 21 48
Idiopathic Basal Ganglia Calcification 42 48
Bspdc 42 48
Fibgc 42 21
Cerebral Calcification Nonarteriosclerotic Idiopathic Adult-Onset 42
Striopallidodentate Calcinosis Autosomal Dominant Adult-Onset 42
 
Idiopathic Basal Ganglia Calcification 1 42
Primary Familial Brain Calcification 42
Ferrocalcinosis, Cerebrovascular 42
Striopallidodentate Calcinosis 21
Fahr Disease, Familial 42
Fahr's Syndrome 61
Ibgc1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
bilateral striopallidodentate calcinosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

Orphanet48 1980
ICD10 via Orphanet26 G23.8
UMLS via Orphanet62 C0393590

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 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 PDGFR-beta signaling pathway and Cytoskeleton remodeling Role of PDGFs in cell migration. The compounds dmpq dihydrochloride and su 6668 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: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

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:

 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 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:

Search ClinicalTrials for Familial Idiopathic Basal Ganglia Calcification

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:00053958.9PSEN1, MAPT, APP
2MP:00053828.8SLC20A2, PSEN1, PSEN2, PDGFRB
3MP:00053678.6MAPT, PDGFB, PDGFRB, PSEN2, PSEN1
4MP:00053978.4PSEN1, PSEN2, MAPT, PDGFRB, PDGFB
5MP:00053698.4APP, PSEN1, MAPT, PDGFRB, PDGFB
6MP:00053918.3PDGFRB, PSEN2, MAPT, PDGFB, SLC20A2, PSEN1
7MP:00028738.2APP, PSEN1, PSEN2, MAPT, PDGFRB
8MP:00053768.0SLC20A2, PDGFB, PDGFRB, PSEN2, APP, PSEN1
9MP:00107718.0PSEN1, APP, PSEN2, PDGFB, MAPT, PDGFRB
10MP:00053877.9PDGFRB, PDGFB, APP, PSEN1, PSEN2, MAPT
11MP:00036317.9PDGFRB, MAPT, PSEN2, PSEN1, APP, PDGFB
12MP:00053787.7SLC20A2, PDGFB, PDGFRB, MAPT, PSEN1, APP
13MP:00107687.4PDGFRB, MAPT, PSEN2, PSEN1, APP, 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:

5 (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
9.3PSEN2, PDGFB, PDGFRB
8
Show member pathways
9.3PDGFRB, PSEN2, PDGFB
9
Show member pathways
MAPK signaling pathway36
9.2PDGFB, MAPT, PDGFRB
109.0PSEN1, PSEN2, APP
11
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.0PSEN2, PSEN1, APP
129.0PSEN2, APP, PSEN1
13
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.9PSEN2, PSEN1, PDGFB, PDGFRB
14
Show member pathways
8.9PDGFRB, PDGFB, PSEN1, PSEN2
158.7PDGFB, APP, PDGFRB, PSEN2
16
Show member pathways
8.6PDGFB, PDGFRB, MAPT, APP
17
Show member pathways
Alzheimers Disease36
8.5PSEN1, APP, MAPT, PSEN2
188.5APP, PSEN1, MAPT, PSEN2
198.1PSEN1, PSEN2, MAPT, PDGFRB, 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 dihydrochloride6010.2PDGFB, PDGFRB
2su 66686010.1PDGFB, PDGFRB
3su 16f6010.1PDGFB, PDGFRB
4sunitinib malate6010.1PDGFB, PDGFRB
5s-1824410.0PSEN1, PSEN2
6mrk 5606010.0PSEN1, PSEN2
7dapt6010.0PSEN2, PSEN1
8l-685,4586010.0PSEN2, PSEN1
9begacestat6010.0PSEN2, PSEN1
10jlk 66010.0PSEN2, PSEN1
11ab-42449.9PSEN2, APP
12thioflavin449.8MAPT, APP
13thioflavine s449.7MAPT, APP
14tacrine44 1110.7APP, MAPT
15donepezil44 50 24 1112.7APP, MAPT
16memantine44 28 50 1112.7APP, MAPT
17bromodeoxyuridine449.7PSEN1, PDGFB, PDGFRB
18galantamine44 50 1111.6MAPT, APP
19spec-t449.6PSEN1, MAPT
20ribonucleic acid449.6PSEN2, PDGFRB, PDGFB
21formate449.5MAPT, APP
22methionine449.4PDGFRB, PSEN1, MAPT
23valproate449.2APP, MAPT
24carbachol44 28 1111.2APP, PSEN1, MAPT
25paraffin449.2PSEN2, MAPT, PDGFRB, PDGFB
26folate449.2APP, PSEN1, MAPT
27oligonucleotide449.2PSEN1, PSEN2, PDGFRB, PDGFB
28proline449.1PDGFRB, MAPT, PSEN1
29cycloheximide449.1PSEN2, PDGFB, MAPT, PSEN1
30nmda44 2810.1PSEN1, MAPT, APP
31oxygen44 2410.1PDGFB, PSEN2, PSEN1, PDGFRB
32vegf449.0APP, PDGFB, PDGFRB, PSEN2
33estrogen449.0PDGFB, MAPT, PSEN2, PDGFRB
34paclitaxel44 50 1111.0MAPT, PSEN2, APP, PDGFRB
354-hydroxynonenal44 2410.0PDGFRB, MAPT, PSEN1, APP
36cholesterol44 28 24 1111.9APP, PSEN1, PDGFRB, PSEN2
37actinomycin d448.9MAPT, APP, PSEN2
38lactacystin448.9MAPT, APP, PSEN1, PSEN2
39choline44 24 1110.9PSEN2, MAPT, PSEN1, APP
40valine448.9PSEN1, PSEN2, MAPT, APP
41genistein44 28 60 1 24 1113.9PDGFRB, PSEN2, MAPT
42aspartate448.8PSEN2, MAPT, PSEN1, APP
43arginine448.8MAPT, PSEN1, SLC20A2, APP
44glucose448.7PDGFB, PSEN1, PSEN2, MAPT, PDGFRB
45glutamate448.7MAPT, APP, PSEN2, PSEN1
46alanine448.6PDGFRB, SLC20A2, PSEN1, APP, MAPT
47cysteine448.6APP, PSEN1, MAPT, PDGFRB
48h2o2448.5PSEN2, APP, PSEN1, PDGFRB, MAPT
49retinoic acid44 249.5APP, PSEN1, PSEN2, MAPT, PDGFRB
50serine447.9PSEN2, PSEN1, MAPT, PDGFRB, PDGFB, SLC20A2

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:003579310.2PDGFB, PDGFRB
3positive regulation of DNA biosynthetic processGO:0200057310.2PDGFB, PDGFRB
4positive regulation of chemotaxisGO:005092110.2PDGFRB, PDGFB
5positive regulation of calcium ion importGO:009028010.2PDGFB, PDGFRB
6positive regulation of smooth muscle cell migrationGO:001491110.1PDGFRB, PDGFB
7positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.1PDGFB, PDGFRB
8platelet-derived growth factor receptor signaling pathwayGO:004800810.1PDGFRB, PDGFB
9positive regulation of reactive oxygen species metabolic processGO:0200037910.1PDGFRB, PDGFB
10positive regulation of mitosisGO:004584010.1PDGFRB, PDGFB
11positive regulation of coagulationGO:005082010.0PSEN2, PSEN1
12myeloid leukocyte differentiationGO:000257310.0PSEN2, PSEN1
13endoplasmic reticulum calcium ion homeostasisGO:003246910.0PSEN2, PSEN1
14amyloid precursor protein catabolic processGO:004298710.0PSEN1, PSEN2
15beta-amyloid metabolic processGO:005043510.0PSEN1, PSEN2
16anagenGO:004264010.0PSEN2, PSEN1
17dorsal/ventral neural tube patterningGO:002190410.0PSEN2, PSEN1
18hematopoietic progenitor cell differentiationGO:000224410.0PSEN1, PSEN2
19cell fate specificationGO:000170810.0PSEN2, PSEN1
20brain morphogenesisGO:004885410.0PSEN2, PSEN1
21skeletal system morphogenesisGO:004870510.0PSEN1, PDGFRB
22T cell activation involved in immune responseGO:000228610.0PSEN2, PSEN1
23membrane protein ectodomain proteolysisGO:000650910.0PSEN2, PSEN1
24Notch receptor processingGO:000722010.0PSEN1, PSEN2
25positive regulation of smooth muscle cell proliferationGO:00486619.9PDGFRB, PDGFB
26protein processingGO:00164859.9PSEN2, PSEN1
27regulation of synaptic plasticityGO:00481679.9PSEN2, PSEN1
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:00017569.8PSEN2, PSEN1
33regulation of protein bindingGO:00433939.8APP, PSEN1
34embryonic limb morphogenesisGO:00303269.8PSEN2, PSEN1
35positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8PDGFRB, PDGFB
36response to estradiolGO:00323559.8PDGFRB, PDGFB
37axon cargo transportGO:00080889.7MAPT, APP
38positive regulation of MAP kinase activityGO:00434069.7PDGFB, PDGFRB, PSEN1
39memoryGO:00076139.7PSEN2, PSEN1
40neuron apoptotic processGO:00514029.7PSEN1, APP
41neurotrophin TRK receptor signaling pathwayGO:00480119.6PDGFB, PDGFRB, PSEN2
42positive regulation of catalytic activityGO:00430859.5PSEN1, CTAGE5, PSEN2
43Notch signaling pathwayGO:00072199.4PSEN1, PSEN2, APP
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

Sources for Familial Idiopathic Basal Ganglia Calcification

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet