MCID: ATH004
MIFTS: 25

Athetosis

Categories: Rare diseases

Aliases & Classifications for Athetosis

MalaCards integrated aliases for Athetosis:

Name: Athetosis 20 29 6

Classifications:



Summaries for Athetosis

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

Wikipedia : 73 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 top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 30.8 PRRT2 NKX2-1 CP
2 dystonia 29.1 PRRT2 NKX2-1 LRRK2 GCDH CP
3 movement disease 28.6 PRRT2 NKX2-1 LRRK2 GCDH CP
4 mitochondrial dna depletion syndrome 7 11.6
5 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.3
6 intellectual disability - athetosis - microphthalmia 11.2
7 episodic kinesigenic dyskinesia 1 11.1
8 infantile cerebellar-retinal degeneration 11.1
9 paroxysmal nonkinesigenic dyskinesia 1 10.9
10 glutaric acidemia i 10.9
11 kernicterus 10.9
12 basal ganglia calcification, idiopathic, 1 10.8
13 hyperphenylalaninemia, bh4-deficient, a 10.8
14 tardive dyskinesia 10.8
15 megalencephalic leukoencephalopathy with subcortical cysts 1 10.8
16 aromatic l-amino acid decarboxylase deficiency 10.8
17 leukoencephalopathy, cystic, without megalencephaly 10.8
18 neurodevelopmental disorder with involuntary movements 10.8
19 basal ganglia calcification 10.8
20 familial paroxysmal nonkinesigenic dyskinesia 10.8
21 free sialic acid storage disorders 10.8
22 chorea, childhood-onset, with psychomotor retardation 10.4
23 cerebral palsy 10.4
24 parkinsonism 10.2
25 spasticity 10.2
26 encephalopathy 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 dyskinetic cerebral palsy 10.1
29 tremor 10.1
30 hyperuricemia 10.0
31 anoxia 10.0
32 hypertonia 10.0
33 syringomyelia, noncommunicating isolated 9.9
34 torticollis 9.9
35 graves disease 1 9.9
36 lesch-nyhan syndrome 9.9
37 striatal degeneration, autosomal dominant 2 9.9
38 phenytoin toxicity 9.9
39 hemiplegia 9.9
40 neonatal jaundice 9.9
41 reflex epilepsy 9.9
42 syringomyelia 9.9
43 peripheral nervous system disease 9.9
44 neuropathy 9.9
45 speech disorder 9.9
46 encephalitis 9.9
47 myoclonus 9.9
48 creutzfeldt-jakob disease 9.8
49 gilles de la tourette syndrome 9.8
50 obsessive-compulsive disorder 9.8

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- a Population-based Approach. 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:

40
Tongue, Cortex, Eye, Thalamus, Spinal Cord

Publications for Athetosis

Articles related to Athetosis:

(show top 50) (show all 521)
# Title Authors PMID Year
1
Performance Analysis in Football-Specific Tests by Para-Footballers With Cerebral Palsy: Implications for Evidence-Based Classification. 61
33662930 2021
2
Dynamic and Static Stability in Para-Athletes with Cerebral Palsy Considering their Impairment Profile. 61
33599066 2021
3
Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury. 61
32662046 2021
4
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency. 61
33506479 2021
5
Biomechanics of starting, sprinting and submaximal running in athletes with brain impairment: A systematic review. 61
32507448 2020
6
Cluster analysis of impairment measures to inform an evidence-based classification structure in RaceRunning, a new World Para Athletics event for athletes with hypertonia, ataxia or athetosis. 61
33337948 2020
7
Anthropometrical Features of Para-Footballers According to Their Cerebral Palsy Profiles and Compared to Controls. 61
33291750 2020
8
Physical demands of para-footballers with cerebral palsy in a small-sided game. 61
32432446 2020
9
Crushing deutetrabenazine for treatment of tardive dyskinesia in a patient with severe orofacial symptoms: A case report. 61
32761113 2020
10
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. 61
32242326 2020
11
Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. 61
32346475 2020
12
[Evaluation of the effect of sleep on inflammatory bowel disease patients based on propensity score matching]. 61
32450643 2020
13
Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review. 61
32138731 2020
14
Activity limitation and match load in para-footballers with cerebral palsy: An approach for evidence-based classification. 61
31657483 2020
15
An Observational Tool to Assess Activity Limitation in Ambulatory People with Cerebral Palsy When Performing Motor Skills. 61
32183325 2020
16
Choreo-Athetosis and Ataxia as Leading Features in a Case of Erdheim-Chester Disease. 61
32071944 2020
17
Pyrethroid Poisoning. 61
32021002 2019
18
Cytosolic non-vesicular dopamine accumulation as the predominant mechanism for developing non-DOPA responsive parkinsonism in late-stage Huntington disease. 61
31466019 2019
19
Hyperkinetic movement disorders in congenital disorders of glycosylation. 61
31132195 2019
20
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants]. 61
31269555 2019
21
Joystick Grip for Electric Wheelchair for Tension-Athetosis-Type Cerebral Palsy. 61
31946216 2019
22
A mathematical model for decision-making in the classification of para-footballers with different severity of coordination impairments. 61
30583709 2019
23
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia. 61
30616884 2019
24
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. 61
30144970 2019
25
Genetic landscape of pediatric movement disorders and management implications. 61
30283815 2018
26
Hyperbilirubinemia in preterm infants in Japan: New treatment criteria. 61
29906300 2018
27
Trihexyphenidyl for dystonia in cerebral palsy. 61
29763510 2018
28
The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. 61
29433091 2018
29
Deep brain stimulation for dystonia due to cerebral palsy: A review. 61
29396170 2018
30
Functions and dysfunctions of the basal ganglia in humans. 61
30078828 2018
31
SELECTIVE DORSAL RHIZOTOMY IN CEREBRAL PALSY: SELECTION CRITERIA AND POSTOPERATIVE PHYSICAL THERAPY PROTOCOLS. 61
29412426 2018
32
[Paroxysmal dyskinesias - disorder categories, their causes and treatment]. 61
30176640 2018
33
[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia]. 61
29132464 2017
34
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 61
28955728 2017
35
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. 61
28650581 2017
36
Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports. 61
27329512 2017
37
Historical Perspectives on Ancient Greek Derived "a" Prefixed Nomenclature for Acquired Neurocognitive Impairment. 61
28484905 2017
38
Orthopedic surgery in cerebral palsy: Instructional course lecture. 61
28566775 2017
39
Marchiafava-Bignami's Disease, as Etiologic Diagnosis of Athetosis. 61
28588358 2017
40
Novel mutation in HPRT1 causing a splicing error with multiple variations. 61
27754763 2017
41
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. 61
28012542 2017
42
Clinical Characteristics and Long-Term Outcomes of Movement Disorders in Childhood Thalamic Tumors. 61
27773422 2016
43
Clonic Perseveration after Acute Ischemic Stroke: An Insight into the Pathophysiological Mechanisms. 61
27209088 2016
44
Rater reliability and scoring duration of the Quality Function Measure in ambulant children with hyperkinetic movement disorders. 61
26888551 2016
45
Holmes' tremor as a delayed complication of thalamic stroke. 61
26778811 2016
46
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 61
26344814 2016
47
Medical Devices; Exemption From Premarket Notification; Class II Devices; Electric Positioning Chair. Final order. 61
26595944 2015
48
Serum unbound bilirubin as a predictor for clinical kernicterus in extremely low birth weight infants at a late age in the neonatal intensive care unit. 61
25638486 2015
49
[Tardive dyskinesia and second generation antipsychotics: a review of four cases]. 61
26749629 2015
50
Outcomes of cochlear implanted children with cerebral palsy: A holistic approach. 61
25977237 2015

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 synaptic vesicle membrane GO:0030672 8.96 PRRT2 LRRK2
2 mitochondrial matrix GO:0005759 8.92 TWNK LRRK2 GCDH ACO2

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 TWNK LRRK2

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 PRRT2 LRRK2

Sources for Athetosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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