Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

Name: Choreatic Disease 12 14 69
Chorea 12 51 29 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 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, childhood-onset, with psychomotor retardation and choreoathetosis, hypothyroidism, and neonatal respiratory distress, and has symptoms including ataxia, athetosis and clonus. An important gene associated with Choreatic Disease is FRRS1L (Ferric Chelate Reductase 1 Like). The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skeletal muscle, 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.

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 191)
id Related Disease Score Top Affiliating Genes
1 chorea, childhood-onset, with psychomotor retardation 33.2 FRRS1L GPR88
2 choreoathetosis, hypothyroidism, and neonatal respiratory distress 32.4 ADCY5 NKX2-1
3 lopes-maciel-rodan syndrome 30.7 HTT JPH3 TBP
4 sjogren's syndrome 22.3 ADCY5 FRRS1L FTL GPR88 HTT JPH3
5 sydenham chorea 12.4
6 chorea, hereditary benign 12.3
7 chorea gravidarum 12.2
8 huntington disease 11.9
9 chorea minor 11.9
10 morvan's fibrillary chorea 11.9
11 chorea and dementia 11.9
12 choreoacanthocytosis 11.8
13 chorea, remitting with nystagmus and cataracts 11.8
14 pontocerebellar hypoplasia, type 2e 11.3
15 antiphospholipid syndrome 11.0
16 cerebellar ataxia 11.0
17 basal ganglia calcification 11.0
18 3-methylglutaconic aciduria, type iii 11.0
19 optic atrophy 3 with cataract 10.9
20 neurodegeneration with brain iron accumulation 3 10.8
21 rheumatic encephalitis 10.8
22 myopathy with extrapyramidal signs 10.8
23 pontocerebellar hypoplasia type 2c 10.8
24 pontocerebellar hypoplasia type 2b 10.8
25 episodic kinesigenic dyskinesia 1 10.8
26 pontocerebellar hypoplasia type 2a 10.8
27 dentatorubro-pallidoluysian atrophy 10.7
28 neuropathy, hereditary sensory and autonomic, type ii 10.7
29 muscular dystrophy, limb-girdle, type 2y 10.6
30 primary familial brain calcification 10.6
31 paroxysomal nonkinesigenic dyskinesia 10.6
32 basal ganglia calcification, idiopathic, 6 10.6
33 tardive dyskinesia 10.6
34 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.6
35 striatonigral degeneration, infantile 10.6
36 x-linked dystonia-parkinsonism/lubag 10.6
37 ataxia-telangiectasia 10.6
38 microphthalmia, syndromic 12 10.6
39 sneddon syndrome 10.6
40 cerebellar ataxia and hypogonadotropic hypogonadism 10.6
41 neurodevelopmental disorder with involuntary movements 10.6
42 parkinsonism-dystonia, infantile 10.6
43 huntington disease-like 2 10.6
44 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.6
45 free sialic acid storage disorders 10.5 PNKD PRRT2
46 uv-induced skin damage 10.5 HTT JPH3
47 bardet-biedl syndrome 2 10.5 PNKD PRRT2
48 atrial septal defect coronary sinus 10.5 NKX2-1 PRRT2
49 postherpetic neuralgia 10.5 PNKD PRRT2
50 hyperphenylalaninemia, bh4-deficient, b 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:


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 ADCY5 FRRS1L HTT JPH3 KEL LGI1
2 nervous system MP:0003631 9.32 JPH3 KEL LGI1 NKX2-1 PNKD PRRT2

Drugs & Therapeutics for Choreatic Disease

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

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 4 28860-95-9 34359 38101
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 4 59-92-7 6047
4 Adjuvants, Immunologic Phase 4
5 Antiparkinson Agents Phase 4
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
7 Carbidopa, levodopa drug combination Phase 4
8 Dopamine Agents Phase 4
9 Dopamine agonists Phase 4
10 Neurotransmitter Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
2 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228

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, Heart, Skeletal Muscle

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....