MCID: BSL008
MIFTS: 41

Basal Ganglia Disease malady

Summaries for Basal Ganglia Disease

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63Wikipedia, 32MalaCards
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Wikipedia:63 Basal ganglia disease refers to a group of physical dysfunctions that occur when the group of nuclei in... more...

MalaCards: Basal Ganglia Disease, also known as disorder of basal ganglia, is related to biotin-responsive basal ganglia disease and thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Basal Ganglia Disease is SLC19A3 (solute carrier family 19 (thiamine transporter), member 3), and among its related pathways are Vitamin B1 (thiamin) metabolism and glycine biosynthesis I. The compounds [3h]thiamine and [3h]methotrexate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thalamus, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Aliases & Classifications for Basal Ganglia Disease

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8Disease Ontology, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

basal ganglia disease 8
disorder of basal ganglia 8
basal ganglia disorders 44
basal ganglia diseases 60


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Disease Ontology8 DOID:679
SNOMED-CT56 70835005
MeSH34 D001480

Related Diseases for Basal Ganglia Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Basal Ganglia Disease:



Diseases related to basal ganglia disease

Clinical Features for Basal Ganglia Disease

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Drugs & Therapeutics for Basal Ganglia Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Basal Ganglia Disease

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Anatomical Context for Basal Ganglia Disease

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32MalaCards
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MalaCards organs/tissues related to Basal Ganglia Disease:

32
Brain, Eye, Thalamus, Subthalamic nucleus, Pons

Animal Models for Basal Ganglia Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Basal Ganglia Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6SLC19A2, SLC5A6, SLC19A1, SLC19A3
2MP:00053678.2BTD, SLC19A3, SLC19A1, SLC5A6
3MP:00053767.6SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD

Publications for Basal Ganglia Disease

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50PubMed
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Articles related to Basal Ganglia Disease:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Shape Changes of the Basal Ganglia and Thalamus in Alzheimer's Disease: A Three-Year Longitudinal Study. (24413620)
2014
2
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. (23269594)
2013
3
Lateralized Cortical Involvement and Contralateral Parkinsonism without Basal Ganglia Involvement in Two Autopsy Cases of Corticobasal Syndrome-Alzheimer's Disease. (24326515)
2013
4
Diagnosis of moyamoya disease on magnetic resonance imaging: are flow voids in the basal ganglia an essential criterion for definitive diagnosis? (22939199)
2013
5
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. (23742248)
2013
6
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
7
Automated differentiation of pre-diagnosis Huntington's disease from healthy control individuals based on quadratic discriminant analysis of the basal ganglia: the IMAGE-HD study. (23069680)
2013
8
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
9
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (23756445)
2013
10
Basal Ganglia Neuronal Activity during Scanning Eye Movements in Parkinson's Disease. (24223158)
2013
11
Unilateral Basal Ganglia Infarcts: a Red Flag for Ipsilateral Cranio-Cervical Arterial Occlusive Disease. A Report on Two Children with Moya-moya Disease. (24028882)
2012
12
Basal ganglia cellular pathology in multiple system atrophy, progressive supranuclear palsy and Parkinson disease. Can quantitative magnetic resonance spectroscopic imaging make the difference? (20561041)
2010
13
Entacapone, a catechol-O-methyltransferase inhibitor, improves the motor activity and dopamine content of basal ganglia in a rat model of Parkinson's disease induced by Japanese encephalitis virus. (19879254)
2010
14
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. (20359319)
2010
15
Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. (18823048)
2009
16
The basal ganglia cholinergic neurochemistry of progressive supranuclear palsy and other neurodegenerative diseases. (17178818)
2007
17
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
18
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
19
Differential patterns of dopamine transporter loss in the basal ganglia of progressive supranuclear palsy and Parkinson's disease: analysis with [(123)I]IPT single photon emission computed tomography. (16473371)
2006
20
Dopaminergic dysbalance in distinct basal ganglia neurocircuits: implications for the pathophysiology of Parkinson's disease, schizophrenia and attention deficit hyperactivity disorder. (17197367)
2006
21
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
22
Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease. (15911799)
2005
23
Athymhormia and disorders of motivation in Basal Ganglia disease. (15616180)
2004
24
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). (15596772)
2004
25
Neurokinin peptides and neurokinin receptors as potential therapeutic intervention targets of basal ganglia in the prevention and treatment of Parkinson's disease. (15011953)
2004
26
Thin section MR study of the basal ganglia in the differential diagnosis between striatonigral degeneration and Parkinson disease. (11884785)
2002
27
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
28
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12112208)
2002
29
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (11438811)
2001
30
Lesch-Nyhan disease and the basal ganglia. (10760551)
2000
31
The pattern of neurodegeneration in Huntington's disease: a comparative study of cannabinoid, dopamine, adenosine and GABA(A) receptor alterations in the human basal ganglia in Huntington's disease. (10828533)
2000
32
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (10441584)
1999
33
PEP-19 immunohistochemistry defines the basal ganglia and associated structures in the adult human brain, and is dramatically reduced in Huntington's disease. (9697113)
1998
34
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998
35
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
36
Neurotensin, substance P, delta and mu opioid receptors are decreased in basal ganglia of Parkinson's disease patients. (7969897)
1994
37
Clinical features of neuroleptic malignant syndrome in basal ganglia disease. Spontaneous presentation in a patient with Hallervorden-Spatz disease in the absence of neuroleptic drugs. (8322990)
1993
38
Beta-adrenergic receptor subtypes in the basal ganglia of patients with Huntington's chorea and Parkinson's disease. (1656540)
1991
39
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
40
Adenosine A2 receptors: selective localization in the human basal ganglia and alterations with disease. (1835521)
1991
41
Psychiatric consequences of basal ganglia disease. (2259804)
1990
42
Neurotensin receptors in Parkinson's disease and progressive supranuclear palsy: an autoradiographic study in basal ganglia. (1965015)
1990
43
Met-enkephalin immunoreactivity in the basal ganglia in Parkinson's disease and striatonigral degeneration. (2192300)
1990
44
Studies on neurotransmitter markers of the basal ganglia in Pick's disease, with special reference to dopamine reduction. (2450180)
1988
45
Technetium-99m HMPAO imaging in patients with basal ganglia disease. (2973362)
1988
46
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. (2864402)
1985
47
Motor disorders in basal ganglia disease. (6715209)
1984
48
Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan? (6681873)
1983
49
Paresis of vertical gaze in basal ganglia disease. (4538012)
1972
50
Psychiatric syndromes in patients with organic brain disease; diseases of the basal ganglia. (20243408)
1947

Genetic Variations for Basal Ganglia Disease

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Expression for genes affiliated with Basal Ganglia Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Basal Ganglia Disease

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Pathways for genes affiliated with Basal Ganglia Disease

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SLC19A2, SLC19A3
2
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9.6SLC46A1, SLC19A1
39.3SLC46A1, FTL
4
Saturated fatty acid biosynthesis
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9.2SLC5A6, BTD
58.1SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
67.7SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD
7
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7.7BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2

Compounds for genes affiliated with Basal Ganglia Disease

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28IUPHAR, 44Novoseek, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB
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Compounds related to Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1[3h]thiamine2810.1SLC19A3, SLC19A2
2[3h]methotrexate289.9SLC46A1, SLC19A1
3[3h]folic acid289.9SLC46A1, SLC19A1
4pteridine449.8SLC19A1, GCH1
5aminopterin44 1110.8SLC46A1, SLC19A1
6tetrahydrofolate449.8GCH1, SLC19A1
7thiamine44 2 11 2412.7SLC19A2, SLC19A1, SLC19A3
8leucovorin44 49 1111.6SLC19A1, GCH1
9sulfasalazine44 28 49 1112.6SLC46A1, SLC19A1
10folic acid49 11 2411.5SLC19A2, SLC19A1, SLC46A1
11biocytin44 2410.5SLC5A6, BTD
12multivitamin449.4BTD, SLC5A6
13methotrexate44 49 1111.3SLC19A2, SLC19A1, SLC46A1
14dihydrofolate449.3GCH1, SLC19A1
15alpha lipoic acid449.1SLC5A6, BTD
16folate449.0GCH1, FTL, SLC19A1, SLC19A2
17glucose448.4SLC19A2, SLC5A6, BTD, GCH1

GO Terms for genes affiliated with Basal Ganglia Disease

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16Gene Ontology
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Biological processes related to Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1thiamine-containing compound metabolic processGO:0427239.8SLC19A2, SLC19A3
2folic acid metabolic processGO:0466559.5SLC46A1, SLC19A1
3folic acid transportGO:0158849.3SLC19A2, SLC19A1, SLC46A1
4cellular iron ion homeostasisGO:0068799.3SLC46A1, FTL
5biotin metabolic processGO:0067688.9SLC5A6, BTD
6water-soluble vitamin metabolic processGO:0067677.9SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD
7vitamin metabolic processGO:0067667.8BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
8small molecule metabolic processGO:0442817.3GCH1, BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6

Molecular functions related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thiamine uptake transmembrane transporter activityGO:0154039.8SLC19A2, SLC19A3
2reduced folate carrier activityGO:0085189.3SLC19A3, SLC19A1, SLC19A2
3folic acid transporter activityGO:0085178.9SLC19A2, SLC19A1, SLC46A1
4folic acid bindingGO:0055428.9SLC19A2, SLC19A1, SLC19A3, SLC46A1

Products for genes affiliated with Basal Ganglia Disease

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Sources for Basal Ganglia Disease

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet