MCID: CHR073
MIFTS: 47

Choreatic Disease

Categories: Neuronal diseases

Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

Name: Choreatic Disease 12 15 73
Chorea 12 76 54 29 6 15 40 73
Hereditary Chorea 12 73

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 33 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). Affiliated tissues include brain, globus pallidus and lung, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 76 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 256)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 34.4 ADCY5 NKX2-1
2 choreoacanthocytosis 33.2 JPH3 KEL VPS13A
3 huntington disease 33.1 HTT JPH3 PDE10A TBP
4 dentatorubral-pallidoluysian atrophy 32.2 HTT JPH3 TBP
5 episodic kinesigenic dyskinesia 1 31.7 PNKD PRRT2
6 neurodegeneration with brain iron accumulation 3 31.6 FTL JPH3
7 huntington disease-like 2 31.4 HTT JPH3 VPS13A
8 spinocerebellar ataxia 17 31.3 JPH3 TBP
9 dystonia 30.4 ADCY5 FTL NKX2-1 PNKD PRRT2
10 athetosis 30.4 NKX2-1 PRRT2
11 movement disease 30.2 FTL HTT NKX2-1 SLC18A2
12 paroxysmal choreoathetosis 30.1 PNKD PRRT2
13 neurodegeneration with brain iron accumulation 1 29.6 JPH3 VPS13A
14 sydenham chorea 12.7
15 chorea gravidarum 12.5
16 chorea, childhood-onset, with psychomotor retardation 12.4
17 chorea, remitting, with nystagmus and cataract 12.2
18 chorea minor 12.2
19 morvan's fibrillary chorea 12.1
20 chorea, benign familial 12.0
21 pontocerebellar hypoplasia, type 2e 11.7
22 3-methylglutaconic aciduria, type iii 11.6
23 striatal degeneration, autosomal dominant 2 11.5
24 rheumatic fever 11.3
25 antiphospholipid syndrome 11.3
26 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.3
27 aceruloplasminemia 11.2
28 tardive dyskinesia 11.2
29 optic atrophy 3, autosomal dominant 11.1
30 pontocerebellar hypoplasia, type 2a 11.0
31 pontocerebellar hypoplasia, type 2b 11.0
32 pontocerebellar hypoplasia, type 2c 11.0
33 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
34 myopathy with extrapyramidal signs 11.0
35 rheumatic encephalitis 11.0
36 neuropathy, hereditary sensory and autonomic, type iia 11.0
37 sneddon syndrome 10.9
38 ataxia-telangiectasia 10.9
39 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.9
40 gordon holmes syndrome 10.9
41 basal ganglia calcification, idiopathic, 1 10.9
42 hyperphenylalaninemia, bh4-deficient, a 10.9
43 striatonigral degeneration, infantile 10.9
44 spinocerebellar ataxia, autosomal recessive 4 10.9
45 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
46 parkinsonism-dystonia, infantile, 1 10.9
47 microphthalmia, syndromic 12 10.9
48 basal ganglia calcification, idiopathic, 6 10.9
49 lopes-maciel-rodan syndrome 10.9
50 neurodevelopmental disorder with involuntary movements 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ADCY5 CNTNAP2 HTT JPH3 KEL LGI1
2 nervous system MP:0003631 9.73 CNTNAP2 HTT JPH3 KEL LGI1 NKX2-1
3 taste/olfaction MP:0005394 8.8 CNTNAP2 HTT SLC18A2

Drugs & Therapeutics for Choreatic Disease

Search Clinical Trials , NIH Clinical Center for Choreatic Disease

Genetic Tests for Choreatic Disease

Genetic tests related to Choreatic Disease:

# Genetic test Affiliating Genes
1 Chorea 29

Anatomical Context for Choreatic Disease

MalaCards organs/tissues related to Choreatic Disease:

41
Brain, Globus Pallidus, Lung, Kidney, Heart, Breast, Thyroid

Publications for Choreatic Disease

Articles related to Choreatic Disease:

(show top 50) (show all 379)
# Title Authors Year
1
Beneficial effect of intravenous immunoglobulin treatment in a patient with antiphospholipid syndrome associated chorea. ( 29801907 )
2018
2
Chorea in Sporadic Creutzfeldt-Jakob Disease. ( 30086616 )
2018
3
Progressive nonparoxysmal chorea and dystonia due to myofibrillogenesis regulator-1 gene mutation. ( 30174277 )
2018
4
An unusual presentation of dystonia and chorea from intraventricular pneumocephalus. ( 30294497 )
2018
5
Transient Generalized Chorea in Influenza A Encephalopathy. ( 30402339 )
2018
6
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation. ( 29578490 )
2018
7
Tetrabenazine Treatment Patterns and Outcomes for Chorea Associated with Huntington Disease: A Retrospective Chart Review. ( 30282372 )
2018
8
Chorea Hyperglycemia Basal Ganglia Syndrome in a 63-Year-Old Male. ( 30532787 )
2018
9
Understanding the pathophysiology of hyperglycemia-associated chorea-ballism: a systematic review of positron emission tomography findings. ( 29984683 )
2018
10
Hyperglycemia and chorea. ( 29998046 )
2018
11
Chorea revealing systemic lupus erythematosus in a 13-year old boy: A case report and short review of the literature. ( 29595356 )
2018
12
Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. ( 30245172 )
2018
13
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum. ( 30352709 )
2018
14
Simultaneous acute presentation of generalized chorea and subacute combined degeneration secondary to vitamin B12 deficiency. ( 30220555 )
2018
15
Expert comment to "Simultaneous acute presentation of generalized chorea and subacute combined degeneration of the spinal cord secondary to vitamin B12 deficiency". ( 30236827 )
2018
16
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. ( 29289388 )
2018
17
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? ( 29621620 )
2018
18
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease. ( 29722054 )
2018
19
Subcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's disease. ( 29402698 )
2018
20
Review of deutetrabenazine: a novel treatment for chorea associated with Huntington's disease. ( 29497277 )
2018
21
Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. ( 29253590 )
2018
22
Chorea in acute carbon monoxide intoxication. ( 28929248 )
2018
23
Delayed-onset MRI findings in acute chorea related to anoxic brain injury. ( 29028509 )
2018
24
Treatment options for chorea. ( 29120264 )
2018
25
A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions. ( 29165877 )
2018
26
Steroid-induced hyperglycemic chorea in a patient without diabetes mellitus. ( 29177793 )
2018
27
Value of 18F-FDG PET/CT in the diagnosis of chorea-acanthocytosis. ( 29208484 )
2018
28
Striking lack of visualization of striatum on 18F-FDG brain PET in chorea-acanthocytosis. ( 29242959 )
2018
29
Effects of bilateral pallidal deep brain stimulation on chorea after pulmonary thromboendarterectomy with deep hypothermia and circulatory arrest: a case report. ( 29248962 )
2018
30
Corticosteroid treatment in Sydenham's chorea. ( 29287833 )
2018
31
Hyperglycemic chorea/ballism ascertained over 15 years at a referral medical center. ( 29305082 )
2018
32
Phenomenology and disease progression of chorea-acanthocytosis patients in Spain. ( 29317187 )
2018
33
Evaluation of 4-oxo-quinoline-based CB2 PET radioligands in R6/2 chorea huntington mouse model and human ALS spinal cord tissue. ( 29353725 )
2018
34
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. ( 29392776 )
2018
35
Bilateral Striatal Necrosis after Sydenham's Chorea in a 7-Year-Old Boy: A 2-Year Follow-Up. ( 29471551 )
2018
36
A Unique Case with Oral Dyskinesia, Chorea, Ataxia, and Mild Cognitive Impairment with Caudate Atrophy and Characteristic Brain Calcifications. ( 29607952 )
2018
37
Progress in the Diagnosis and Management of Chorea-acanthocytosis. ( 29620515 )
2018
38
Pallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis. ( 29635714 )
2018
39
Rare case of chorea-hyperglycaemia-basal ganglia (C-H-BG) syndrome. ( 29666090 )
2018
40
New pathogenic mutation of chorea-acanthocytosis. ( 29752031 )
2018
41
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach. ( 29801190 )
2018
42
Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. ( 29845114 )
2018
43
Conscious sedation with midazolam intravenously for a patient with Parkinson's disease and unpredictable chorea-like dyskinesia. ( 29908706 )
2018
44
Bilateral chorea/ballismus: detection and management of a rare complication of non-ketotic hyperglycaemia. ( 29925556 )
2018
45
Diabetic chorea as a neurological complication. ( 29988654 )
2018
46
Deutetrabenazine for the treatment of Huntington's chorea. ( 29996061 )
2018
47
Hydromorphone-induced chorea as an atypical presentation of opioid neurotoxicity: A case report and review of the literature. ( 30004301 )
2018
48
Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling. ( 30081151 )
2018
49
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode. ( 30140251 )
2018
50
Teaching Video NeuroImages: A treatable rare cause of chorea. ( 30201756 )
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

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling balance GO:0050885 9.26 ADCY5 JPH3
2 neuromuscular process controlling posture GO:0050884 9.16 PNKD PRRT2
3 vocal learning GO:0042297 8.96 CNTNAP2 HTT
4 locomotory behavior GO:0007626 8.92 ADCY5 NKX2-1 SLC18A2 VPS13A

Sources for Choreatic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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