Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 33 G25.5

Summaries for Choreatic Disease

NINDS : 54 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 ataxia, athetosis and clonus. An important gene associated with Choreatic Disease is FRRS1L (Ferric Chelate Reductase 1 Like). Affiliated tissues include brain, pituitary and thyroid, 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 : 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 234)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 34.7 ADCY5 NKX2-1
2 choreoacanthocytosis 32.3 JPH3 KEL VPS13A
3 dentatorubral-pallidoluysian atrophy 32.1 HTT JPH3 TBP
4 huntington disease 32.0 HTT JPH3 PDE10A TBP
5 huntington disease-like 2 31.7 HTT JPH3
6 neurodegeneration with brain iron accumulation 3 31.4 FTL JPH3
7 spinocerebellar ataxia 17 31.2 JPH3 TBP
8 athetosis 30.5 NKX2-1 PRRT2
9 paroxysmal choreoathetosis 30.2 PNKD PRRT2
10 neurodegeneration with brain iron accumulation 1 29.7 JPH3 VPS13A
11 dystonia 29.5 NKX2-1 PNKD PRRT2
12 movement disease 29.4 FTL HTT NKX2-1 SLC18A2
13 sydenham chorea 12.6
14 chorea gravidarum 12.3
15 chorea, childhood-onset, with psychomotor retardation 12.2
16 chorea minor 12.0
17 morvan's fibrillary chorea 12.0
18 chorea, remitting, with nystagmus and cataract 11.9
19 chorea, benign familial 11.9
20 pontocerebellar hypoplasia, type 2e 11.6
21 3-methylglutaconic aciduria, type iii 11.4
22 striatal degeneration, autosomal dominant 2 11.4
23 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.1
24 antiphospholipid syndrome 11.1
25 aceruloplasminemia 11.1
26 basal ganglia calcification 11.1
27 tardive dyskinesia 11.1
28 optic atrophy 3, autosomal dominant 11.0
29 episodic kinesigenic dyskinesia 1 10.9
30 pontocerebellar hypoplasia, type 2a 10.9
31 pontocerebellar hypoplasia, type 2b 10.9
32 pontocerebellar hypoplasia, type 2c 10.9
33 myopathy with extrapyramidal signs 10.9
34 rheumatic encephalitis 10.9
35 neuropathy, hereditary sensory and autonomic, type iia 10.8
36 sneddon syndrome 10.7
37 ataxia-telangiectasia 10.7
38 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.7
39 gordon holmes syndrome 10.7
40 muscular dystrophy, limb-girdle, type 2a 10.7
41 hyperphenylalaninemia, bh4-deficient, a 10.7
42 striatonigral degeneration, infantile 10.7
43 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.7
44 parkinsonism-dystonia, infantile 10.7
45 microphthalmia, syndromic 12 10.7
46 basal ganglia calcification, idiopathic, 6 10.7
47 lopes-maciel-rodan syndrome 10.7
48 neurodevelopmental disorder with involuntary movements 10.7
49 gnao1 encephalopathy 10.7
50 paroxysomal nonkinesigenic dyskinesia 10.7

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, involuntary movements, 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 FRRS1L HTT JPH3 KEL LGI1
2 homeostasis/metabolism MP:0005376 9.61 ADCY5 FRRS1L HTT KEL NKX2-1 PDE10A
3 nervous system MP:0003631 9.36 JPH3 KEL LGI1 NKX2-1 PDE10A PNKD

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, Pituitary, Thyroid, Eye

Publications for Choreatic Disease

Articles related to Choreatic Disease:

(show all 50)
# Title Authors Year
1
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. ( 26723978 )
2016
2
ADCY5 mutations are another cause of benign hereditary chorea. ( 26085604 )
2015
3
ADCY5 Mutations and Benign Hereditary Chorea. ( 26933606 )
2015
4
Benign hereditary chorea: more than meets the eye. ( 24673582 )
2014
5
Benign hereditary chorea as an experimental model to investigate the role of medium spiny neurons for response adaptation. ( 24835591 )
2014
6
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature. ( 24930029 )
2014
7
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. ( 25412988 )
2014
8
Benign hereditary chorea: a case report and brief review of inherited choreas. ( 25108317 )
2014
9
Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family. ( 22959176 )
2013
10
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. ( 24171694 )
2013
11
Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. ( 22825795 )
2013
12
Action selection in a possible model of striatal medium spiny neuron dysfunction: behavioral and EEG data in a patient with benign hereditary chorea. ( 24135770 )
2013
13
Benign hereditary chorea 2: pathological findings in an autopsy case. ( 22239265 )
2012
14
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. ( 22832740 )
2012
15
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. ( 21982616 )
2012
16
Benign hereditary chorea: an update. ( 21292530 )
2011
17
Benign hereditary chorea. ( 21496579 )
2011
18
Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. ( 21714005 )
2011
19
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. ( 20544814 )
2010
20
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. ( 20803509 )
2010
21
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. ( 18788921 )
2008
22
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. ( 18661567 )
2008
23
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. ( 17765926 )
2008
24
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. ( 17702043 )
2007
25
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. ( 17405764 )
2007
26
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. ( 17940252 )
2007
27
Benign hereditary chorea revisited: a journey to understanding. ( 17702033 )
2007
28
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. ( 17044090 )
2006
29
[Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community]. ( 16028188 )
2005
30
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. ( 16220345 )
2005
31
Alterations of striatal neurons in benign hereditary chorea. ( 15986422 )
2005
32
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. ( 15955952 )
2005
33
Benign hereditary chorea: clinical, genetic, and pathological findings. ( 12891678 )
2003
34
Neurodegenerative disorders: George Huntington's description of hereditary chorea. ( 12556581 )
2003
35
Clinical and genetic heterogeneity in benign hereditary chorea. ( 12196653 )
2002
36
Mutations in TITF-1 are associated with benign hereditary chorea. ( 11971878 )
2002
37
Benign hereditary chorea of early onset maps to chromosome 14q. ( 10631144 )
2000
38
Benign hereditary chorea--entity or syndrome? ( 10752577 )
2000
39
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. ( 8836592 )
1996
40
Benign hereditary chorea improved on stimulant therapy. ( 8962590 )
1996
41
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. ( 7634535 )
1995
42
Benign hereditary chorea or hereditary idiopathic dystonia? ( 8341316 )
1993
43
Benign hereditary chorea. ( 8292207 )
1993
44
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. ( 8133497 )
1993
45
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. ( 2141358 )
1990
46
Benign hereditary chorea. A case report. ( 3167322 )
1988
47
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). ( 2895189 )
1988
48
Cerebral metabolism of glucose in benign hereditary chorea. ( 2973557 )
1986
49
Benign hereditary chorea--response to steroids. ( 4092854 )
1985
50
Benign hereditary chorea. Clinical and genetic aspects. ( 624192 )
1978

Variations for Choreatic Disease

ClinVar genetic disease variations for Choreatic Disease:

6
(show all 12)
# 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.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh38 Chromosome 9, 109137529: 109137529
3 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
4 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh37 Chromosome 9, 111903640: 111903640
5 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Conflicting interpretations of pathogenicity rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
6 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Conflicting interpretations of pathogenicity rs878853282 GRCh37 Chromosome 9, 111903746: 111903748
7 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
8 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh37 Chromosome 9, 111911956: 111911956
9 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh38 Chromosome 19, 10148886: 10148886
10 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh37 Chromosome 19, 10259562: 10259562
11 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh37 Chromosome 19, 13410054: 13410054
12 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh38 Chromosome 19, 13299240: 13299240

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
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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