Genes associated with “dystonia”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
59 genesGTP cyclohydrolase 1
dystonia 5
deafness dystonia syndrome
dopa decarboxylase
aromatic L-amino acid decarboxylase deficiency
WD repeat domain 45
ATPase copper transporting beta
Wilson disease
ATPase Na+/K+ transporting subunit alpha 3
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
solute carrier family 2 member 1
dystonia 9
fatty acid 2-hydroxylase
protein activator of interferon induced protein kinase EIF2AK2
dystonia 16
dyskinesia with orofacial involvement, autosomal recessive
sepiapterin reductase
solute carrier family 19 member 3
dystonia 30
PTEN induced kinase 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
neuroferritinopathy
classic dopamine transporter deficiency syndrome
autosomal recessive juvenile Parkinson disease 2
hypoxanthine phosphoribosyltransferase 1
pantothenate kinase 2
episodic kinesigenic dyskinesia 1
6-pyruvoyltetrahydropterin synthase
hypomyelinating leukodystrophy 6
intellectual disability, autosomal dominant 42
GM1 gangliosidosis type 3
torsion dystonia 6
dystonia 28, childhood-onset
pyruvate dehydrogenase E2 deficiency
neurodegeneration with brain iron accumulation 2B
isolated sulfite oxidase deficiency
NPC intracellular cholesterol transporter 2
glutaryl-CoA dehydrogenase
ATPase cation transporting 13A2
torsion dystonia 2
pyruvate dehydrogenase E1-alpha deficiency
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
DDB1 and CUL4 associated factor 17
parkinsonian-pyramidal syndrome
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
neurodevelopmental disorder with involuntary movements
developmental and epileptic encephalopathy, 1
dystonia 27
mediator complex subunit 27
dihydropteridine reductase deficiency
anoctamin 3
spastic ataxia 5
ATPase Na+/K+ transporting subunit alpha 2
AU RNA binding methylglutaconyl-CoA hydratase
solute carrier family 20 member 2
mitochondrial complex I deficiency, nuclear type 3
Consider
77 genesearly-onset generalized limb-onset dystonia
mitochondrial complex I deficiency, nuclear type 5
intellectual developmental disorder with autism and macrocephaly
pyruvate dehydrogenase E3 deficiency
early-onset Parkinson disease 20
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
developmental malformations-deafness-dystonia syndrome
neurodegeneration with brain iron accumulation 4
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
late-onset Parkinson disease
VPS41 subunit of HOPS complex
mitochondrial complex I deficiency, nuclear type 16
hypermanganesemia with dystonia 2
mitochondrial complex III deficiency nuclear type 4
neurodegeneration with brain iron accumulation 6
vesicle associated membrane protein 2
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
basal ganglia calcification, idiopathic, 1
Rett syndrome
calcium voltage-gated channel subunit alpha1 E
dystonia 35, childhood-onset
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Gabriele de Vries syndrome
calcium/calmodulin dependent protein kinase IV
Jaberi-Elahi syndrome
Tay-Sachs disease AB variant
lipoyl transferase 1 deficiency
hyperphenylalaninemia due to DNAJC12 deficiency
basal ganglia calcification, idiopathic, 1
spinocerebellar ataxia type 12
presenilin 1
mitochondrial complex 2 deficiency, nuclear type 3
Siddiqi syndrome
Ullrich congenital muscular dystrophy 1A
dystonia 33
developmental and epileptic encephalopathy, 27
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
myoclonic dystonia 26
mitochondrial complex IV deficiency, nuclear type 11
neurodevelopmental disorder with impaired speech and hyperkinetic movements
synaptosome associated protein 25
developmental delay and seizures with or without movement abnormalities
methylmalonic aciduria and homocystinuria type cblD
dystonia 22, juvenile-onset
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
autosomal recessive spinocerebellar ataxia 17
dystonia 32
cerebroretinal microangiopathy with calcifications and cysts 1
Possible
46 genes — click to expand
dystonia 37, early-onset, with striatal lesions
proximal myopathy with extrapyramidal signs
neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
zinc finger protein 526
scapuloperoneal spinal muscular atrophy, autosomal dominant
episodic kinesigenic dyskinesia 3
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
mitochondrial complex III deficiency nuclear type 2
leukoencephalopathy, progressive, with ovarian failure
ARF GTPase 3
developmental and epileptic encephalopathy, 29
spinocerebellar ataxia 48
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
spinocerebellar ataxia type 21
dentatorubral-pallidoluysian atrophy
multiple mitochondrial dysfunctions syndrome 7
developmental and epileptic encephalopathy, 64
pontocerebellar hypoplasia type 2B
developmental and epileptic encephalopathy 89
combined oxidative phosphorylation defect type 27
intellectual disability, autosomal recessive 6
amyotrophic lateral sclerosis type 2, juvenile
pontocerebellar hypoplasia type 9
dystonia 31
Hermansky-Pudlak syndrome 10
mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Ogden syndrome
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
leukodystrophy, hypomyelinating, 15
fibrosis, neurodegeneration, and cerebral angiomatosis
hereditary spastic paraplegia 47
brain small vessel disease 1 with or without ocular anomalies
autosomal recessive limb-girdle muscular dystrophy type R18
combined oxidative phosphorylation deficiency 35
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.