Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

Name: Choreatic Disease 12 15 74
Chorea 12 77 55 30 6 15 41 17 74
Hereditary Chorea 12 74

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 34 G25.5

Summaries for Choreatic Disease

Disease Ontology : 12 A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.

MalaCards based summary : Choreatic Disease, also known as chorea, is related to chorea, benign hereditary and choreoacanthocytosis, and has symptoms including ataxia, tremor and clonus. An important gene associated with Choreatic Disease is HTT (Huntingtin), and among its related pathways/superpathways are Circadian entrainment and Circadian rythm related genes. Affiliated tissues include brain, testes and thyroid, and related phenotypes are behavior/neurological and homeostasis/metabolism

Wikipedia : 77 Chorea (or choreia, occasionally) is an abnormal involuntary movement disorder, one of a group of... more...

Related Diseases for Choreatic Disease

Diseases related to Choreatic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 301)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 34.6 ADCY5 NKX2-1
2 choreoacanthocytosis 33.7 JPH3 VPS13A XK
3 huntington disease 32.7 DRD2 HTT JPH3 PDE10A TBP
4 dentatorubral-pallidoluysian atrophy 32.4 HTT JPH3 TBP
5 huntington disease-like 2 32.1 HTT JPH3 VPS13A
6 spinocerebellar ataxia 17 32.0 JPH3 TBP
7 neurodegeneration with brain iron accumulation 3 31.7 FTL JPH3
8 tardive dyskinesia 31.7 DRD2 DRD3
9 mcleod syndrome 30.5 DRD2 VPS13A XK
10 dystonia 30.1 DRD2 DRD5 FTL NKX2-1 PNKD
11 neurodegeneration with brain iron accumulation 1 29.7 JPH3 VPS13A
12 focal dystonia 29.6 DRD2 DRD5 TBP
13 lingual-facial-buccal dyskinesia 29.5 DRD3 VPS13A
14 movement disease 29.2 DRD2 DRD3 FTL HTT NKX2-1 SLC18A2
15 parkinson disease, late-onset 28.6 DRD2 DRD3 HTT SLC18A2 TBP
16 attention deficit-hyperactivity disorder 28.6 DRD2 DRD3 DRD5 SLC18A2
17 sydenham chorea 12.8
18 chorea, childhood-onset, with psychomotor retardation 12.6
19 chorea gravidarum 12.5
20 chorea, remitting, with nystagmus and cataract 12.3
21 morvan's fibrillary chorea 12.2
22 chorea, benign familial 12.1
23 pontocerebellar hypoplasia, type 2e 11.8
24 striatal degeneration, autosomal dominant 2 11.8
25 3-methylglutaconic aciduria, type iii 11.6
26 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.6
27 rheumatic fever 11.3
28 antiphospholipid syndrome 11.3
29 aceruloplasminemia 11.3
30 ataxia-telangiectasia 11.2
31 optic atrophy 3, autosomal dominant 11.2
32 pontocerebellar hypoplasia, type 2a 11.2
33 episodic kinesigenic dyskinesia 1 11.1
34 pontocerebellar hypoplasia, type 2b 11.1
35 pontocerebellar hypoplasia, type 2c 11.1
36 muscular dystrophy, limb-girdle, autosomal recessive 18 11.1
37 myopathy with extrapyramidal signs 11.1
38 rheumatic encephalitis 11.1
39 neuropathy, hereditary sensory and autonomic, type iia 11.0
40 sneddon syndrome 10.9
41 spinocerebellar ataxia 2 10.9
42 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.9
43 gordon holmes syndrome 10.9
44 basal ganglia calcification, idiopathic, 1 10.9
45 hyperphenylalaninemia, bh4-deficient, a 10.9
46 striatonigral degeneration, infantile 10.9
47 spinocerebellar ataxia, autosomal recessive 4 10.9
48 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
49 parkinsonism-dystonia, infantile, 1 10.9
50 pontocerebellar hypoplasia, type 8 10.9

Graphical network of the top 20 diseases related to Choreatic Disease:



Diseases related to Choreatic Disease

Symptoms & Phenotypes for Choreatic Disease

UMLS symptoms related to Choreatic Disease:


ataxia, tremor, clonus, myoclonus, dystonia, involuntary movements, athetosis, other symptoms involving nervous and musculoskeletal systems, muscular fasciculation, spasm, synkinesis, recurrent muscle twitches (symptom)

MGI Mouse Phenotypes related to Choreatic Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADCY5 DRD2 DRD3 DRD5 HTT JPH3
2 homeostasis/metabolism MP:0005376 9.85 ADCY5 DRD2 DRD3 HTT NKX2-1 PDE10A
3 nervous system MP:0003631 9.73 DRD2 DRD3 DRD5 HTT JPH3 NKX2-1
4 taste/olfaction MP:0005394 8.8 DRD2 HTT SLC18A2

Drugs & Therapeutics for Choreatic Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Far Infrared Irradiation for Managing, Control and Treatment of Huntington's Disease (HD) Unknown status NCT00675077 Phase 1

Search NIH Clinical Center for Choreatic Disease

Genetic Tests for Choreatic Disease

Genetic tests related to Choreatic Disease:

# Genetic test Affiliating Genes
1 Chorea 30

Anatomical Context for Choreatic Disease

MalaCards organs/tissues related to Choreatic Disease:

42
Brain, Testes, Thyroid, Heart, Lung, Eye, Globus Pallidus

Publications for Choreatic Disease

Articles related to Choreatic Disease:

(show top 50) (show all 2300)
# Title Authors Year
1
Progressive nonparoxysmal chorea and dystonia due to myofibrillogenesis regulator-1 gene mutation. ( 30174277 )
2019
2
Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report. ( 30837005 )
2019
3
Comparing Risperidone and Olanzapine to Tetrabenazine for the Management of Chorea in Huntington Disease: An Analysis from the Enroll-HD Database. ( 30838312 )
2019
4
Perceptions of the impact of chorea on health-related quality of life in Huntington disease (HD): A qualitative analysis of individuals across the HD spectrum, family members, and clinicians. ( 30849283 )
2019
5
Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. ( 30245172 )
2019
6
Irreversible chorea as the initial presentation of polycythemia rubra vera in an elderly woman. ( 30842401 )
2019
7
Chorea, Pruritus and Polycythemia: Looking for Clues. ( 30931269 )
2019
8
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum. ( 30352709 )
2019
9
Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]. ( 31053344 )
2019
10
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. ( 30956058 )
2019
11
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. ( 30746413 )
2019
12
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease. ( 29722054 )
2019
13
Yeast model based study identified myosin and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis. ( 30635263 )
2019
14
High Frequency Bilateral Globus Pallidus Interna Deep Brain Stimulation Can Improve Both Chorea and Dysarthria in Chorea-acanthocytosis. ( 30658884 )
2019
15
Sydenham's Chorea. ( 31003820 )
2019
16
Non-ketotic hyperosmolar hyperglycemic chorea. ( 30892433 )
2019
17
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? ( 30793011 )
2019
18
Phenytoin Induced Chorea: A Rare Adverse Effect of the Drug. ( 30381086 )
2019
19
An Unusual Case of Antiphospholipid Syndrome Presenting as Chorea. ( 30648048 )
2018
20
Oromandibular chorea in antiphospholipid syndrome. ( 29305492 )
2018
21
Beneficial effect of intravenous immunoglobulin treatment in a patient with antiphospholipid syndrome associated chorea. ( 29801907 )
2018
22
Chorea in Sporadic Creutzfeldt-Jakob Disease. ( 30086616 )
2018
23
An unusual presentation of dystonia and chorea from intraventricular pneumocephalus. ( 30294497 )
2018
24
Transient Generalized Chorea in Influenza A Encephalopathy. ( 30402339 )
2018
25
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. ( 30687222 )
2018
26
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation. ( 29578490 )
2018
27
Tetrabenazine Treatment Patterns and Outcomes for Chorea Associated with Huntington Disease: A Retrospective Chart Review. ( 30282372 )
2018
28
Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family. ( 30622839 )
2018
29
Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. ( 29383957 )
2018
30
Understanding How Chorea Affects Health-Related Quality of Life in Huntington Disease: An Online Survey of Patients and Caregivers in the United States. ( 29750428 )
2018
31
Chorea Associated with Nonketotic Hyperglycemia (Diabetic Striatopathy) in an Elderly Male. ( 30766836 )
2018
32
Chorea Hyperglycemia Basal Ganglia Syndrome in a 63-Year-Old Male. ( 30532787 )
2018
33
Clinical and neuroimaging spectrum of hyperglycemia-associated chorea-ballism: systematic review and exploratory analysis of case reports. ( 30663963 )
2018
34
Understanding the pathophysiology of hyperglycemia-associated chorea-ballism: a systematic review of positron emission tomography findings. ( 29984683 )
2018
35
Hyperglycemia and chorea. ( 29998046 )
2018
36
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece. ( 29928881 )
2018
37
Chorea revealing systemic lupus erythematosus in a 13-year old boy: A case report and short review of the literature. ( 29595356 )
2018
38
Chorea and Calcifications: Atypical Presentation of Microscopic Polyangiitis. ( 29976382 )
2018
39
Hematologic Follow-up as Clue to Polycythemia Vera due to JAK2 Mutation Presenting as Late Onset Chorea. ( 30746396 )
2018
40
Extrapyramidal syndrome with generalized chorea as an atypical presentation of progressive multifocal leukoencephalopathy. ( 26968822 )
2018
41
Deutetrabenazine (Austedo) for Huntington's chorea and tardive dyskinesia. ( 29667946 )
2018
42
Simultaneous acute presentation of generalized chorea and subacute combined degeneration secondary to vitamin B12 deficiency. ( 30220555 )
2018
43
Expert comment to "Simultaneous acute presentation of generalized chorea and subacute combined degeneration of the spinal cord secondary to vitamin B12 deficiency". ( 30236827 )
2018
44
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. ( 29289388 )
2018
45
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? ( 29621620 )
2018
46
The "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-Acanthocytosis. ( 30746406 )
2018
47
Subcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's disease. ( 29402698 )
2018
48
Review of deutetrabenazine: a novel treatment for chorea associated with Huntington's disease. ( 29497277 )
2018
49
Value of 18F-FDG PET/CT in the diagnosis of chorea-acanthocytosis. ( 29208484 )
2018
50
Striking lack of visualization of striatum on 18F-FDG brain PET in chorea-acanthocytosis. ( 29242959 )
2018

Variations for Choreatic Disease

Expression for Choreatic Disease

Search GEO for disease gene expression data for Choreatic Disease.

Pathways for Choreatic Disease

GO Terms for Choreatic Disease

Cellular components related to Choreatic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 non-motile cilium GO:0097730 8.96 DRD2 DRD5
2 dopaminergic synapse GO:0098691 8.8 DRD2 DRD3 SLC18A2

Biological processes related to Choreatic Disease according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.79 DRD2 DRD3 VPS13A
2 cellular calcium ion homeostasis GO:0006874 9.72 DRD3 DRD5 XK
3 response to cocaine GO:0042220 9.65 DRD2 DRD3 DRD5
4 positive regulation of cytokinesis GO:0032467 9.63 DRD2 DRD3
5 associative learning GO:0008306 9.63 DRD2 DRD5
6 response to morphine GO:0043278 9.62 DRD2 DRD3
7 arachidonic acid secretion GO:0050482 9.61 DRD2 DRD3
8 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.61 DRD2 DRD3
9 behavioral response to cocaine GO:0048148 9.6 DRD2 DRD3
10 dopamine receptor signaling pathway GO:0007212 9.59 DRD2 DRD3
11 negative regulation of protein secretion GO:0050709 9.58 DRD2 DRD3
12 dopamine metabolic process GO:0042417 9.58 DRD2 DRD3
13 prepulse inhibition GO:0060134 9.57 DRD2 DRD3
14 positive regulation of renal sodium excretion GO:0035815 9.56 DRD2 DRD3
15 G protein-coupled receptor internalization GO:0002031 9.54 DRD2 DRD3
16 negative regulation of blood pressure GO:0045776 9.54 DRD2 DRD3 DRD5
17 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.52 DRD2 DRD5
18 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.51 DRD2 DRD3
19 synaptic transmission, dopaminergic GO:0001963 9.5 DRD2 DRD3 DRD5
20 negative regulation of dopamine receptor signaling pathway GO:0060160 9.49 DRD2 DRD3
21 acid secretion GO:0046717 9.46 DRD2 DRD3
22 regulation of locomotion involved in locomotory behavior GO:0090325 9.43 DRD2 DRD3
23 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.43 ADCY5 DRD3 DRD5
24 response to histamine GO:0034776 9.4 DRD2 DRD3
25 adenylate cyclase-inhibiting dopamine receptor signaling pathway GO:0007195 9.33 ADCY5 DRD2 DRD3
26 response to amphetamine GO:0001975 9.26 DRD2 DRD3 DRD5 SLC18A2
27 locomotory behavior GO:0007626 9.1 ADCY5 DRD2 DRD3 NKX2-1 SLC18A2 VPS13A

Molecular functions related to Choreatic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adrenergic receptor activity GO:0004935 9.26 DRD2 DRD3
2 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 9.16 DRD2 DRD3
3 dopamine binding GO:0035240 9.13 DRD2 DRD3 DRD5
4 dopamine neurotransmitter receptor activity GO:0004952 8.8 DRD2 DRD3 DRD5

Sources for Choreatic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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