MCID: CHR073
MIFTS: 37

Choreatic Disease malady

Categories: Neuronal diseases

Aliases & Classifications for Choreatic Disease

Aliases & Descriptions for Choreatic Disease:

Name: Choreatic Disease 12 14 69
Chorea 12 51 29 14 69
Hereditary Chorea 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 33 G25.5

Summaries for Choreatic Disease

NINDS : 51 Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called  which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with  which adds twisting and writhing movements. Chorea is a primary feature of  a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions.  occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.

MalaCards based summary : Choreatic Disease, also known as chorea, is related to sjogren's syndrome and sydenham chorea, and has symptoms including ataxia, athetosis and clonus. An important gene associated with Choreatic Disease is FRRS1L (Ferric Chelate Reductase 1 Like). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and nervous system

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.

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 187)
id Related Disease Score Top Affiliating Genes
1 sjogren's syndrome 26.6 ADCY5 FRRS1L FTL GPR88 HTT JPH3
2 sydenham chorea 12.4
3 chorea, hereditary benign 12.4
4 chorea gravidarum 12.2
5 chorea minor 11.9
6 huntington disease 11.9
7 morvan's fibrillary chorea 11.9
8 chorea and dementia 11.9
9 choreoacanthocytosis 11.8
10 chorea, remitting with nystagmus and cataracts 11.8
11 pontocerebellar hypoplasia, type 2e 11.3
12 choreoathetosis, hypothyroidism, and neonatal respiratory distress 11.0
13 antiphospholipid syndrome 11.0
14 basal ganglia calcification 11.0
15 3-methylglutaconic aciduria, type iii 11.0
16 optic atrophy 3 with cataract 10.9
17 neurodegeneration with brain iron accumulation 3 10.8
18 pontocerebellar hypoplasia type 2c 10.8
19 myopathy with extrapyramidal signs 10.8
20 pontocerebellar hypoplasia type 2b 10.8
21 episodic kinesigenic dyskinesia 1 10.8
22 muscular dystrophy, limb-girdle, type 2e 10.8
23 pontocerebellar hypoplasia type 2a 10.8
24 rheumatic encephalitis 10.8
25 dentatorubro-pallidoluysian atrophy 10.7
26 neuropathy, hereditary sensory and autonomic, type ii 10.7
27 basal ganglia calcification, idiopathic, 6 10.6
28 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.6
29 ataxia-telangiectasia 10.6
30 sneddon syndrome 10.6
31 cerebellar ataxia and hypogonadotropic hypogonadism 10.6
32 microphthalmia, syndromic 12 10.6
33 aceruloplasminemia 10.6
34 huntington disease-like 2 10.6
35 parkinsonism-dystonia, infantile 10.6
36 primary familial brain calcification 10.6
37 paroxysomal nonkinesigenic dyskinesia 10.6
38 tardive dyskinesia 10.6
39 melanoma, cutaneous malignant, 5 10.2 HTT JPH3
40 ramsay hunt syndrome i 10.2 PNKD PRRT2
41 attenuated familial adenomatous polyposis 10.2 NKX2-1 PRRT2
42 neuroblastoma 5 10.2 PNKD PRRT2
43 syphilitic spinal sclerosis 10.2 FRRS1L PRRT2
44 glans penis cancer 10.2 FRRS1L PRRT2
45 restless legs syndrome 2 10.2 ADCY5 FRRS1L NKX2-1
46 dystonia 10.2
47 osteitis fibrosa 10.1 PNKD PRRT2
48 spastic paraplegia 44, autosomal recessive 10.1 HTT JPH3 VPS13A
49 small cell carcinoma 10.1 ADCY5 NKX2-1 PNKD
50 herpes simplex encephalitis 7 10.1 FTL JPH3

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

MGI Mouse Phenotypes related to Choreatic Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 PNKD PRRT2 SGCE SLC18A2 TBP VPS13A
2 nervous system MP:0003631 9.32 HTT JPH3 KEL NKX2-1 PNKD PRRT2

Drugs & Therapeutics for Choreatic Disease

Drugs for Choreatic Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 161)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 2 59-92-7 6047
3
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
4
Carbidopa Approved Phase 4 28860-95-9 34359 38101
5
Amantadine Approved Phase 4,Phase 2 768-94-5 2130
6
Tetrabenazine Approved Phase 4,Phase 3 58-46-8 6018
7 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Dihydroxyphenylalanine Phase 4,Early Phase 1
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
13 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
14 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Carbidopa, levodopa drug combination Phase 4
17 Antiparkinson Agents Phase 4,Phase 2
18 Dopamine agonists Phase 4
19 Adjuvants, Immunologic Phase 4
20 Adrenergic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
21 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
22 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
23 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
25 Antiviral Agents Phase 4,Phase 2
26
Cysteamine Approved, Investigational Phase 2, Phase 3 60-23-1 6058
27
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
28
Minocycline Approved, Investigational Phase 2, Phase 3,Phase 1 10118-90-8 5281021
29
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
30
Creatine Approved, Nutraceutical Phase 3,Phase 2,Phase 1 57-00-1 586
31
Resveratrol Experimental, Investigational Phase 3 501-36-0, 955365-80-7 24856436 445154
32 Ubiquinone Phase 3,Phase 2,Phase 1
33 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
34 Trace Elements Phase 3,Phase 2,Phase 1
35 Vitamins Phase 3,Phase 2
36 Micronutrients Phase 3,Phase 2,Phase 1
37 Central Nervous System Depressants Phase 3,Phase 2,Phase 1,Early Phase 1
38
Serotonin Phase 3,Phase 2 50-67-9 5202
39 Serotonin Agents Phase 3,Phase 2
40 Serotonin Uptake Inhibitors Phase 3,Phase 2
41 Neuroprotective Agents Phase 3,Phase 2
42 Tranquilizing Agents Phase 3,Phase 2,Phase 1,Early Phase 1
43 Dopamine Antagonists Phase 3,Early Phase 1
44 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
45 Anticonvulsants Phase 3
46 Antiemetics Phase 3
47 Psychotropic Drugs Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antipsychotic Agents Phase 3,Early Phase 1
49 Antioxidants Phase 3,Phase 2
50 Tiapride Hydrochloride Phase 3

Interventional clinical trials:

(show top 50) (show all 154)
id Name Status NCT ID Phase
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4
2 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4
3 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463 Phase 4
4 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
5 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4
6 A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine) Recruiting NCT02509793 Phase 4
7 Effect of Tetrabenazine on Stroop Interference in HD Recruiting NCT01834911 Phase 4
8 Multicentric Trial of the Treatment of Huntington's Disease by Cysteamine (RP103) Unknown status NCT02101957 Phase 2, Phase 3
9 First Time Use of SD-809 in Huntington Disease Completed NCT01795859 Phase 3
10 Efficacy and Safety of Tetrabenazine in Chorea Completed NCT00219804 Phase 3
11 TREND-HD - A Trial of Ethyl-EPA (Miraxion™) in Treating Mild to Moderate Huntington's Disease Completed NCT00146211 Phase 3
12 A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease Completed NCT00920946 Phase 3
13 A Study of Pridopidine (ACR16) for the Treatment of Patients With Huntington's Disease Completed NCT00724048 Phase 2, Phase 3
14 A Study of Treatment With Pridopidine (ACR16) in Patients With Huntington's Disease Completed NCT00665223 Phase 3
15 Riluzole in Huntington's Disease Completed NCT00277602 Phase 3
16 Pilot Study of Minocycline in Huntington's Disease Completed NCT00277355 Phase 2, Phase 3
17 Family Health After Predictive Huntington Disease (HD) Testing Completed NCT00075140 Phase 3
18 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Recruiting NCT00632645 Phase 3
19 WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation) Recruiting NCT02552628 Phase 3
20 Resveratrol and Huntington Disease Recruiting NCT02336633 Phase 3
21 Alternatives for Reducing Chorea in HD Active, not recruiting NCT01897896 Phase 3
22 An Extension of the HORIZON Protocol Evaluating the Safety of Dimebon (Latrepirdine) in Subjects With Huntington Disease Terminated NCT01085266 Phase 3
23 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3
24 Coenzyme Q10 in Huntington's Disease (HD) Terminated NCT00608881 Phase 3
25 Safety and Efficacy of Bone Marrow Derived MNCs for Treatment of Cells for the Treatment of Hunting Tons Chorea. Unknown status NCT01834053 Phase 1, Phase 2
26 Study in PRE-manifest Huntington's Disease of Coenzyme Q10 (UbiquinonE) Leading to Preventive Trials (PREQUEL) Unknown status NCT00920699 Phase 2
27 MIG-HD: Multicentric Intracerebral Grafting in Huntington's Disease Unknown status NCT00190450 Phase 2
28 Treatment of Huntington's Chorea With Amantadine Completed NCT00001930 Phase 2
29 Randomized, Placebo Controlled Study Of The Efficacy And Safety Of PF-02545920 In Subjects With Huntington's Disease Completed NCT02197130 Phase 2
30 Atomoxetine and Huntington's Disease Completed NCT00368849 Phase 2
31 Citalopram to Enhance Cognition in HD Completed NCT00271596 Phase 2
32 Famotidine for Levodopa-induced Dyskinesia in PD Completed NCT01937078 Phase 2
33 Preventive Measures for Childhood-Onset Obsessive-Compulsive Disorder and Tic Disorders (PANDAS Subgroup) Completed NCT00001359 Phase 2
34 Study Exploring Safety, Pharmacokinetic and Pharmacodynamic of BN82451 in Male Huntington's Disease Patients Completed NCT02231580 Phase 2
35 A Phase 2, to Evaluating the Safety and Efficacy of Pridopidine Versus Placebo for Symptomatic Treatment in Patients With Huntington's Disease Completed NCT02006472 Phase 2
36 Apathy Cure Through Bupropion in Huntington's Disease Completed NCT01914965 Phase 2
37 Proof of Concept of an Anaplerotic Study Using Brain Phosphorus Magnetic Resonance Spectroscopy in Huntington Disease Completed NCT01882062 Phase 2
38 Study Evaluating The Safety, Tolerability And Brain Function Of 2 Doses Of PF-0254920 In Subjects With Early Huntington's Disease Completed NCT01806896 Phase 2
39 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease Completed NCT01590888 Phase 2
40 A Phase II Safety and Tolerability Study With SEN0014196 Completed NCT01521585 Phase 2
41 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2
42 A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease Completed NCT01458470 Phase 2
43 Creatine Safety & Tolerability in Huntington's Disease Completed NCT01412151 Phase 2
44 Premanifest Huntington's Disease Extension Study II: Creatine Safety & Tolerability Completed NCT01411163 Phase 2
45 Premanifest Huntington's Disease: Creatine Safety & Tolerability Extension Study Completed NCT01411150 Phase 2
46 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2
47 Creatine Safety and Tolerability in Premanifest HD: PRECREST Completed NCT00592995 Phase 2
48 A Study of the Novel Drug Dimebon in Patients With Huntington's Disease Completed NCT00497159 Phase 2
49 Safety Study of the Novel Drug Dimebon to Treat Patients With Huntington's Disease Completed NCT00387270 Phase 1, Phase 2
50 Safety and Tolerability Study of Phenylbutyrate in Huntington's Disease (PHEND-HD) Completed NCT00212316 Phase 2

Search NIH Clinical Center for Choreatic Disease

Genetic Tests for Choreatic Disease

Genetic tests related to Choreatic Disease:

id Genetic test Affiliating Genes
1 Chorea 29

Anatomical Context for Choreatic Disease

MalaCards organs/tissues related to Choreatic Disease:

39
Brain

Publications for Choreatic Disease

Variations for Choreatic Disease

ClinVar genetic disease variations for Choreatic Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
2 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
3 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
4 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676

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:

id Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 9.16 PNKD PRRT2
2 neuromuscular process controlling balance GO:0050885 9.13 ADCY5 GPR88 JPH3
3 locomotory behavior GO:0007626 9.02 ADCY5 GPR88 NKX2-1 SLC18A2 VPS13A

Sources for Choreatic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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