Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

Name: Choreatic Disease 12 14 69
Chorea 12 72 50 28 69
Hereditary Chorea 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 32 G25.5

Summaries for Choreatic Disease

NINDS : 50 Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, 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 athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Sydenham's chorea 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 chorea, benign hereditary and choreoacanthocytosis, and has symptoms including recurrent muscle twitches (symptom), involuntary movements and synkinesis. An important gene associated with Choreatic Disease is FRRS1L (Ferric Chelate Reductase 1 Like). Affiliated tissues include brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

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.

Wikipedia : 72 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 229)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 34.4 ADCY5 NKX2-1
2 choreoacanthocytosis 32.5 JPH3 KEL VPS13A
3 huntington disease 32.4 HTT JPH3 PDE10A TBP
4 dentatorubral-pallidoluysian atrophy 32.0 HTT JPH3 TBP
5 huntington disease-like 2 31.6 HTT JPH3
6 neurodegeneration with brain iron accumulation 3 31.5 FTL JPH3
7 athetosis 30.3 NKX2-1 PRRT2
8 paroxysmal choreoathetosis 29.9 PNKD PRRT2
9 neurodegeneration with brain iron accumulation 1 29.6 JPH3 VPS13A
10 sydenham chorea 12.6
11 chorea, childhood-onset, with psychomotor retardation 12.4
12 chorea gravidarum 12.3
13 chorea minor 12.0
14 morvan's fibrillary chorea 12.0
15 chorea, remitting, with nystagmus and cataract 11.9
16 chorea, benign familial 11.9
17 pontocerebellar hypoplasia, type 2e 11.6
18 striatal degeneration, autosomal dominant 2 11.4
19 3-methylglutaconic aciduria, type iii 11.1
20 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.1
21 antiphospholipid syndrome 11.1
22 aceruloplasminemia 11.1
23 basal ganglia calcification 11.1
24 optic atrophy 3, autosomal dominant 11.0
25 episodic kinesigenic dyskinesia 1 10.9
26 pontocerebellar hypoplasia, type 2a 10.9
27 pontocerebellar hypoplasia, type 2b 10.9
28 pontocerebellar hypoplasia, type 2c 10.9
29 myopathy with extrapyramidal signs 10.9
30 rheumatic encephalitis 10.9
31 neuropathy, hereditary sensory and autonomic, type iia 10.8
32 sneddon syndrome 10.7
33 ataxia-telangiectasia 10.7
34 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.7
35 gordon holmes syndrome 10.7
36 muscular dystrophy, limb-girdle, type 2a 10.7
37 hyperphenylalaninemia, bh4-deficient, a 10.7
38 striatonigral degeneration, infantile 10.7
39 tardive dyskinesia 10.7
40 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.7
41 parkinsonism-dystonia, infantile 10.7
42 microphthalmia, syndromic 12 10.7
43 basal ganglia calcification, idiopathic, 6 10.7
44 lopes-maciel-rodan syndrome 10.7
45 neurodevelopmental disorder with involuntary movements 10.7
46 gnao1 encephalopathy 10.7
47 paroxysomal nonkinesigenic dyskinesia 10.7
48 x-linked dystonia-parkinsonism/lubag 10.7
49 familial idiopathic basal ganglia calcification 10.7
50 familial paroxysmal nonkinesigenic dyskinesia 10.3 PNKD PRRT2

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:


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

MGI Mouse Phenotypes related to Choreatic Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ADCY5 FRRS1L HTT JPH3 KEL LGI1
2 homeostasis/metabolism MP:0005376 9.61 FRRS1L HTT KEL NKX2-1 PDE10A PNKD
3 nervous system MP:0003631 9.36 HTT JPH3 KEL LGI1 NKX2-1 PDE10A

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 28

Anatomical Context for Choreatic Disease

MalaCards organs/tissues related to Choreatic Disease:

38
Brain

Publications for Choreatic Disease

Articles related to Choreatic Disease:

(show top 50) (show all 886)
# Title Authors Year
1
Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. ( 29383957 )
2018
2
Oromandibular chorea in antiphospholipid syndrome. ( 29305492 )
2018
3
Acute Generalized Chorea as Presenting Manifestation of Uremic Encephalopathy. ( 28936101 )
2017
4
Globular glial tauopathy presenting as non-fluent/agrammatic variant primary progressive aphasia with chorea. ( 28923295 )
2017
5
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
6
Chorea and Orofaciolingual Dystonia in a 40 Year Old Male. ( 28527175 )
2017
7
Chorea gravidarum associated with Moyamoya angiopathy treated with alpha-methyldopa. ( 28526173 )
2017
8
Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea. ( 28258281 )
2017
9
Chorea Minor Associated with Anti-Neurochondrin Autoantibodies. ( 28962041 )
2017
10
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate. ( 28334785 )
2017
11
The development of a new computer adaptive test to evaluate chorea in Huntington disease: HDQLIFE Chorea. ( 27141833 )
2016
12
Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnA Atypical Presentation. ( 27343025 )
2016
13
Deutetrabenazine-Not a Revolution but Welcome Evolution for Treating Chorea in Huntington Disease. ( 27749952 )
2016
14
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. ( 27123486 )
2016
15
Extrapyramidal syndrome with generalized chorea as an atypical presentation of progressive multifocal leukoencephalopathy. ( 26968822 )
2016
16
A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea. ( 26613966 )
2016
17
Reversible striatal hypermetabolism in chorea associated with moyamoya disease: a report of two cases. ( 27193011 )
2016
18
Predictors of recurrence in Sydenham's chorea: Clinical observation from a single center. ( 27209549 )
2016
19
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. ( 26723978 )
2016
20
Deutetrabenazine for Treatment of Chorea in Huntington Disease. ( 27380339 )
2016
21
Chorea in a patient with cryopyrin-associated periodic syndrome. ( 26683645 )
2016
22
A Case Report of Chorea Associated with Hyperthyroidism. ( 27042533 )
2016
23
Successful treatment of Sydenham's chorea with intravenous immunoglobulin. ( 26837939 )
2016
24
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. ( 27058447 )
2016
25
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. ( 26813249 )
2016
26
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial. ( 27380342 )
2016
27
Autoimmunity against dopamine receptors in neuropsychiatric and movement disorders: a review of Sydenham chorea and beyond. ( 26454143 )
2016
28
Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea. ( 27920268 )
2016
29
Persistent Sydenham's chorea is not associated with sustained lymphocyte dysfunction. ( 26486494 )
2015
30
Intravenous immunoglobulin in acute Sydenham's chorea: A systematic review. ( 26633611 )
2015
31
Disabling myopathy with chorea and noncompaction. ( 25479536 )
2015
32
Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis. ( 26553947 )
2015
33
A randomized, placebo-controlled trial of AFQ056 for the treatment of chorea in Huntington's disease. ( 25689146 )
2015
34
Sydenham chorea in a 5-year-old Saudi patient. ( 25630787 )
2015
35
A New Alternative Drug With Fewer Adverse Effects in the Treatment of Sydenham Chorea: Levetiracetam Efficacy in a Child. ( 26166232 )
2015
36
Severe Sydenham's chorea (chorea paralytica) successfully treated with plasmapheresis. ( 26788338 )
2015
37
Language Impairment in Adolescents with Sydenham Chorea. ( 26933544 )
2015
38
Generalized chorea due to delayed encephalopathy after acute carbon monoxide intoxication. ( 25745326 )
2015
39
Sydenham's chorea: beyond involuntary movements. ( 26096059 )
2015
40
Neuropsychological manifestations in children with Sydenham's chorea after adjunct intravenous immunoglobulin and standard treatment. ( 25987537 )
2015
41
Chorea associated with high titers of antiphospholipid antibodies in the absence of antiphospholipid antibody syndrome. ( 25774325 )
2015
42
Adult-onset Sydenham's chorea or drug-induced movement disorder? A case report. ( 26341343 )
2015
43
Sydenham's chorea: not gone but perhaps forgotten. ( 26374756 )
2015
44
Neuropsychiatric manifestations of Sydenham's chorea: a systematic review. ( 25926089 )
2015
45
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. ( 26431448 )
2015
46
Chorea associated with nonketotic hyperglycemia: An uncommon patient with bilateral movements. ( 25772802 )
2015
47
Dexmedetomidine with low-dose ketamine for cataract surgery under peribulbar block in a patient with Huntington's chorea. ( 25886428 )
2015
48
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317 )
2015
49
Chorea-St. Vitus, Sydenham or Pandas? ( 26540800 )
2015
50
TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells. ( 25996471 )
2015

Variations for Choreatic Disease

ClinVar genetic disease variations for Choreatic Disease:

6
# 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.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:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling balance GO:0050885 9.16 ADCY5 JPH3
2 neuromuscular process controlling posture GO:0050884 8.96 PNKD PRRT2
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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