MCID: ATH004
MIFTS: 29

Athetosis

Categories: Rare diseases

Aliases & Classifications for Athetosis

MalaCards integrated aliases for Athetosis:

Name: Athetosis 53 29 6

Classifications:



Summaries for Athetosis

MalaCards based summary : Athetosis is related to dystonia and movement disease. An important gene associated with Athetosis is ACO2 (Aconitase 2). Affiliated tissues include brain, tongue and spinal cord, and related phenotype is nervous system.

Wikipedia : 76 Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the... more...

Related Diseases for Athetosis

Diseases related to Athetosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.4 GCDH NKX2-1 PRRT2
2 movement disease 29.6 LRRK2 NKX2-1
3 intellectual disability - athetosis - microphthalmia 12.1
4 idiopathic double athetosis 12.1
5 mitochondrial dna depletion syndrome 7 12.0
6 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.7
7 kernicterus 11.3
8 infantile cerebellar-retinal degeneration 11.2
9 episodic kinesigenic dyskinesia 1 11.1
10 basal ganglia calcification, idiopathic, 1 11.0
11 glutaric acidemia i 11.0
12 hyperphenylalaninemia, bh4-deficient, a 11.0
13 tardive dyskinesia 11.0
14 salla disease 11.0
15 chorea, childhood-onset, with psychomotor retardation 11.0
16 neurodevelopmental disorder with involuntary movements 11.0
17 rnase t2-deficient leukoencephalopathy 11.0
18 familial idiopathic basal ganglia calcification 11.0
19 cerebral palsy 10.4
20 hyperuricemia 10.1
21 spasticity 10.1
22 tremor 10.1
23 phenytoin toxicity 10.0
24 epilepsy 10.0
25 neonatal jaundice 10.0
26 reflex epilepsy 10.0
27 encephalopathy 10.0
28 choreatic disease 10.0 NKX2-1 PRRT2
29 alzheimer disease 9.9
30 creutzfeldt-jakob disease 9.9
31 torticollis 9.9
32 lesch-nyhan syndrome 9.9
33 bainbridge-ropers syndrome 9.9
34 cervical dystonia 9.9
35 lymphoma 9.9
36 microcephaly 9.9
37 hemiplegia 9.9
38 nephrotic syndrome 9.9
39 typhoid fever 9.9
40 spondylosis 9.9
41 speech disorder 9.9
42 encephalitis 9.9
43 cerebral palsy athetoid 9.9
44 dwarfism 9.9
45 pachygyria 9.9
46 hypertonia 9.9
47 multinodular goiter 9.9 CP NKX2-1
48 dyskinetic cerebral palsy 9.8 NKX2-1 NPHS1

Graphical network of the top 20 diseases related to Athetosis:



Diseases related to Athetosis

Symptoms & Phenotypes for Athetosis

MGI Mouse Phenotypes related to Athetosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CP GCDH LRRK2 NKX2-1 NPHS1 PRRT2

Drugs & Therapeutics for Athetosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exploring Hypertonia in Children With Cerebral Palsy Unknown status NCT01744158

Search NIH Clinical Center for Athetosis

Genetic Tests for Athetosis

Genetic tests related to Athetosis:

# Genetic test Affiliating Genes
1 Athetosis 29

Anatomical Context for Athetosis

MalaCards organs/tissues related to Athetosis:

41
Brain, Tongue, Spinal Cord, Skin, Thalamus

Publications for Athetosis

Articles related to Athetosis:

(show top 50) (show all 132)
# Title Authors Year
1
The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. ( 29433091 )
2018
2
Marchiafava-Bignami's Disease, as Etiologic Diagnosis of Athetosis. ( 28588358 )
2017
3
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. ( 28955728 )
2017
4
Improving Target Acquisition for Computer Users With Athetosis. ( 26132226 )
2015
5
Early Controversies Over Athetosis: II. Treatment. ( 23450199 )
2013
6
Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype. ( 23895867 )
2013
7
Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology. ( 23450262 )
2013
8
Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation. ( 21953941 )
2012
9
Birth-related syndromes of athetosis and kernicterus. ( 21496597 )
2011
10
Algorithms for target prediction for computer users with athetosis. ( 21096307 )
2010
11
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). ( 16362719 )
2006
12
Transient athetosis induced by tiagabine. ( 16650148 )
2006
13
Donepezil and athetosis in an elderly patient with Alzheimer's disease. ( 12757588 )
2003
14
Dystonia, athetosis, and epilepsia partialis continua in a patient with late-onset Rasmussen's encephalitis. ( 12112219 )
2002
15
Athetosis II: the syndrome of mild athetoid cerebral palsy. ( 12465069 )
2002
16
Athetosis I: historical considerations. ( 12465068 )
2002
17
[A case of Creutzfeldt-Jakob disease exhibiting athetosis in the early stage]. ( 10553590 )
1999
18
Syringomyelic dystonia and athetosis. ( 10435509 )
1999
19
Benign epileptic seizures in infancy followed by paroxysmal choreo-athetosis during adolescence. ( 10937145 )
1999
20
Bibrachial sensory athetosis and dystonia in delayed postirradiation myelopathy. ( 9452353 )
1998
21
Athetosis increases resting metabolic rate in adults with cerebral palsy. ( 8557940 )
1996
22
Botulinum toxin for spasticity and athetosis in children with cerebral palsy. ( 8629930 )
1996
23
Athetosis-dystonia in intramedullary lesions of spinal cord. ( 8848936 )
1995
24
Familial paroxysmal kinesigenic choreo-athetosis in a child with visual hallucinations and obsessive-compulsive behaviour. ( 7698527 )
1995
25
Prevalence of chorea, dystonia and athetosis in Assiut, Egypt: a clinical and epidemiological study. ( 7969703 )
1994
26
A case with athetosis, mental retardation, deafness, and pachygyria. ( 1785663 )
1991
27
Dystonia and choreo-athetosis in Wernicke's encephalopathy. A case report. ( 2727844 )
1989
28
Athetosis in typhoid fever. ( 3701678 )
1986
29
Acute organophosphate poisoning presenting with choreo-athetosis. ( 6209420 )
1984
30
Treatment of post-traumatic choreo-athetosis with sodium valproate. ( 6417281 )
1983
31
Attempted rapid elbow flexion movements in patients with athetosis. ( 6886719 )
1983
32
Monosymptomatic athetosis or functional disorder: an extraordinary case of strikingly deep larynx associated with speech disorder. ( 6654274 )
1983
33
Cervical cord stimulation in the treatment of athetosis and dystonia. ( 6602467 )
1983
34
Choreo-athetosis induced by phenytoin in an epileptic child. A case report. ( 7292204 )
1981
35
Posthemiplegic athetosis in the adult. CT findings in a case. ( 7333810 )
1981
36
Progressive choreo-athetosis related to birth anoxia. ( 7198140 )
1981
37
Chronic paleocerebellar stimulation in dystonia and athetosis. Report of two cases. ( 6968821 )
1980
38
Choreo-athetosis with severe thyrotoxicosis. ( 523377 )
1979
39
Ataxia and athetosis as side effects of chemotherapy with vincristine in non-Hodgkin's lymphoma. ( 657152 )
1978
40
Glutaric aciduria in progressive choreo-athetosis. ( 624191 )
1978
41
Athetosis and phenytoin toxicity. ( 835515 )
1977
42
Bilateral cervical posterior rhizotomy: effects on dystonia and athetosis, on respiration and other autonomic functions. ( 666310 )
1977
43
Chronic cerebellar stimulation in spastic choreo-athetosis. ( 303441 )
1977
44
Acute athetosis as a result of phenytoin toxicity in a child. ( 1247004 )
1976
45
Follow-up study on upper extremity bracing of children with severe athetosis. ( 1180315 )
1975
46
The pathological anatomy of posthemiplegic athetosis. ( 1122374 )
1975
47
The pathologic anatomy of posthemiplegic athetosis. ( 4463537 )
1974
48
Choreo-athetosis and encephalopathy induced by phenytoin. ( 4151655 )
1974
49
Electromyographic study of the rigidospasticity of athetosis. ( 4570905 )
1973
50
Letter: Reserpine for athetosis. ( 4753039 )
1973

Variations for Athetosis

Expression for Athetosis

Search GEO for disease gene expression data for Athetosis.

Pathways for Athetosis

GO Terms for Athetosis

Cellular components related to Athetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.46 ACO2 GCDH LRRK2 TWNK
2 synaptic vesicle GO:0008021 9.26 LRRK2 PRRT2
3 synaptic vesicle membrane GO:0030672 8.96 LRRK2 PRRT2
4 mitochondrial matrix GO:0005759 8.92 ACO2 GCDH LRRK2 TWNK

Biological processes related to Athetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 8.62 LRRK2 TWNK

Molecular functions related to Athetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 syntaxin-1 binding GO:0017075 8.62 LRRK2 PRRT2

Sources for Athetosis

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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