MCID: BSL009
MIFTS: 37

Basal Ganglia Calcification malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Basal Ganglia Calcification

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Aliases & Descriptions for Basal Ganglia Calcification:

Name: Basal Ganglia Calcification 10 12
Fahr's Syndrome 46 24 65
Cerebral Calcification Nonarteriosclerotic Idiopathic Childhood-Onset 45
Bilateral Striopallidodentate Calcinosis Childhood-Onset 45
Idiopathic Basal Ganglia Calcification, Childhood Onset 65
Childhood-Onset Idiopathic Basal Ganglia Calcification 10
Idiopathic Basal Ganglia Calcification Childhood-Onset 45
 
Idiopathic Basal Ganglia Calcification 1 36
Basal Ganglia Calcification, Idiopathic 11
Idiopathic Basal Ganglia Calcification 10
Basal Ganglia Calcifications 65
Ibgc Childhood Onset 45
Fahr Disease 10


Classifications:



External Ids:

Disease Ontology10 DOID:0060230
MeSH36 C536275

Summaries for Basal Ganglia Calcification

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NINDS:46 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: Basal Ganglia Calcification, also known as fahr's syndrome, is related to basal ganglia calcification, idiopathic, 5 and primary familial brain calcification. An important gene associated with Basal Ganglia Calcification is SLC20A2 (Solute Carrier Family 20 (Phosphate Transporter), Member 2), and among its related pathways are PDGFR-beta signaling pathway and Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are skeleton and immune system.

Disease Ontology:10 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.

Related Diseases for Basal Ganglia Calcification

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1basal ganglia calcification, idiopathic, 531.1PDGFB, PDGFRB
2primary familial brain calcification10.8
3basal ganglia calcification, idiopathic, 110.8
4hypoparathyroidism10.7
5basal ganglia calcification, idiopathic, 410.7
6basal ganglia calcification, idiopathic, 610.7
7basal ganglia calcification, idiopathic, 210.6
8dystonia10.5
9pseudohypoparathyroidism10.5
10hypocalcemia, autosomal dominant10.5
11kearns-sayre syndrome10.5
12immunodeficiency 3810.4
13aicardi-goutieres syndrome 710.4
14aicardi-goutieres syndrome 1, dominant and recessive10.4
15autoinflammation, lipodystrophy, and dermatosis syndrome10.4
16hypocalcemia, autosomal dominant 210.4
17aicardi-goutieres syndrome10.4
18dementia10.4
19mood disorder10.4
20corticobasal degeneration10.4
21schizophrenia10.2
22xeroderma pigmentosum, group b10.2
23biotinidase deficiency10.2
24spastic paraplegia 56, autosomal recessive10.2
25cockayne syndrome, type a10.2
26oculodentodigital dysplasia10.2
27osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
28cockayne syndrome, type b10.2
29kenny-caffey syndrome, type 210.2
30folate malabsorption, hereditary10.2
31aicardi-goutieres syndrome 510.2
32pseudohypoparathyroidism ia10.2
33pseudohypoparathyroidism ic10.2
34nasu-hakola disease10.2
35arteriovenous fistula10.2
36bipolar disorder10.2
37glomerulonephritis10.2
38membranoproliferative glomerulonephritis10.2
39arteriovenous malformation10.2
40rickets10.2
41down syndrome10.2
42ganglioglioma10.2
43blepharospasm10.2
44mutism10.2
45calcinosis10.2
46gangliosidosis10.2
47hyperglycemia10.2
48impulse control disorder10.2
49laryngitis10.2
50mitochondrial disorders10.2

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



Diseases related to basal ganglia calcification

Symptoms for Basal Ganglia Calcification

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Drugs & Therapeutics for Basal Ganglia Calcification

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Drugs for Basal Ganglia Calcification (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cholecalciferolapproved, nutraceuticalPhase 275567-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
 
Colecalciferol
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
2
Ergocalciferolapproved, nutraceuticalPhase 288550-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
3vitamin dPhase 21463
4ErgocalciferolsPhase 2885
5Vitamin D2NutraceuticalPhase 2885
6CalciferolNutraceuticalPhase 21028

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Effects of Vitamin D and Bone Loss in Parkinson's DiseaseCompletedNCT00907972Phase 2
2Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright SyndromeCompletedNCT00001973

Search NIH Clinical Center for Basal Ganglia Calcification


Cochrane evidence based reviews: Idiopathic basal ganglia calcification 1

Genetic Tests for Basal Ganglia Calcification

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Genetic tests related to Basal Ganglia Calcification:

id Genetic test Affiliating Genes
1 Fahr's Syndrome24

Anatomical Context for Basal Ganglia Calcification

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MalaCards organs/tissues related to Basal Ganglia Calcification:

33
Brain, Eye, Cortex, Bone, Pineal, Caudate nucleus

Animal Models for Basal Ganglia Calcification or affiliated genes

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MGI Mouse Phenotypes related to Basal Ganglia Calcification:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0ISG15, PDGFRB, SLC20A2, TRPM6, TYROBP
2MP:00053877.4ISG15, PDGFB, PDGFRB, TREM2, TYROBP, XPR1

Publications for Basal Ganglia Calcification

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Articles related to Basal Ganglia Calcification:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? (26187296)
2015
2
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant. (26167230)
2015
3
Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. (25636102)
2015
4
Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder. (26246920)
2015
5
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. (25292412)
2015
6
Familial idiopathic basal ganglia calcification (Fahr`s disease). (24983277)
2014
7
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. (25366923)
2014
8
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. (25301227)
2014
9
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. (24135862)
2014
10
Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification. (24434185)
2014
11
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. (24518837)
2014
12
Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism. (24552219)
2014
13
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. (24556562)
2014
14
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. (24796542)
2014
15
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. (23939468)
2013
16
Psychosis revealing familial idiopathic basal ganglia calcification. (23122487)
2013
17
Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population. (23054591)
2013
18
Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome. (24416050)
2013
19
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. (24065723)
2013
20
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. (23334463)
2013
21
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. (24286000)
2013
22
Anticipation of familial idiopathic basal ganglia calcification? (22504267)
2012
23
Rare co-occurrence of dural arteriovenous fistula and arteriovenous malformation with bilateral subcortical and basal ganglia calcification. (22755350)
2012
24
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
25
Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism. (22288727)
2012
26
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation. (22982920)
2012
27
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
28
A case of idiopathic basal ganglia calcification associated with membranoproliferative glomerulonephritis. (22001464)
2011
29
Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. (18663732)
2009
30
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. (19252803)
2009
31
Updating genetic studies in familial idiopathic basal ganglia calcification. (19668038)
2009
32
Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. (17357130)
2007
33
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (16505336)
2006
34
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
35
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. (15883308)
2005
36
Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. (15654564)
2005
37
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
38
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12621646)
2003
39
Schizophrenia and familial idiopathic basal ganglia calcification: a case report. (11352376)
2001
40
Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. (10063711)
1999
41
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (10441584)
1999
42
Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. (1758461)
1991
43
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. (2363422)
1990
44
Basal ganglia calcification and organic mood disorder. (2912244)
1989
45
Idiopathic basal ganglia calcification and organic mood disorder. (3344850)
1988
46
Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification. (3404168)
1988
47
Basal ganglia calcifications in a case of biotinidase deficiency. (3399084)
1988
48
Hyperkinetic mutism: bilateral ballism and basal ganglia calcification. (3703289)
1986
49
Basal ganglia calcification in pseudohypoparathyroidism type II. (7307284)
1981
50
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974

Variations for Basal Ganglia Calcification

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Expression for genes affiliated with Basal Ganglia Calcification

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

Pathways for genes affiliated with Basal Ganglia Calcification

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PDGFB, PDGFRB
29.8PDGFB, PDGFRB
39.8PDGFB, PDGFRB
4
Show member pathways
9.8PDGFB, PDGFRB
59.8PDGFB, PDGFRB

GO Terms for genes affiliated with Basal Ganglia Calcification

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.4PDGFB, PDGFRB
2positive regulation of DNA biosynthetic processGO:200057310.3PDGFB, PDGFRB
3platelet-derived growth factor receptor signaling pathwayGO:004800810.3PDGFB, PDGFRB
4positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.3PDGFB, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.2PDGFB, PDGFRB
6positive regulation of chemotaxisGO:005092110.2PDGFB, PDGFRB
7positive regulation of calcium ion importGO:009028010.2PDGFB, PDGFRB
8positive regulation of smooth muscle cell proliferationGO:004866110.2PDGFB, PDGFRB
9positive regulation of MAP kinase activityGO:004340610.1PDGFB, PDGFRB
10positive regulation of reactive oxygen species metabolic processGO:200037910.0PDGFB, PDGFRB
11positive regulation of smooth muscle cell migrationGO:001491110.0PDGFB, PDGFRB
12cell chemotaxisGO:00603269.9PDGFB, PDGFRB
13positive regulation of mitotic nuclear divisionGO:00458409.8PDGFB, PDGFRB
14positive regulation of ERK1 and ERK2 cascadeGO:00703749.4PDGFB, PDGFRB, TREM2
15axon guidanceGO:00074118.6PDGFB, PDGFRB, TREM2, TYROBP
16innate immune responseGO:00450877.6ISG15, PDGFB, PDGFRB, TREM2, TYROBP

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:000516110.2PDGFB, PDGFRB
2virus receptor activityGO:00016189.8SLC20A2, XPR1
3platelet-derived growth factor bindingGO:00484079.8PDGFB, PDGFRB
4receptor activityGO:00048729.1SLC20A2, TREM2, XPR1

Sources for Basal Ganglia Calcification

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet