MCID: OCL066
MIFTS: 34

Oculogyric Crisis

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Oculogyric Crisis

MalaCards integrated aliases for Oculogyric Crisis:

Name: Oculogyric Crisis 12 6 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050842
UMLS 70 C0085637

Summaries for Oculogyric Crisis

Disease Ontology : 12 A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.

MalaCards based summary : Oculogyric Crisis is related to focal dystonia and blepharospasm, and has symptoms including dystonia, dystonia, paroxysmal and dystonia, limb. An important gene associated with Oculogyric Crisis is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Monoamine GPCRs. Affiliated tissues include brain, eye and skin, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 73 Oculogyric crisis (OGC) is the name of a dystonic reaction to certain drugs or medical conditions... more...

Related Diseases for Oculogyric Crisis

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 focal dystonia 30.4 GCH1 ATP1A3
2 blepharospasm 30.2 GCH1 ATP1A3
3 tic disorder 30.1 PRODH HTR2A
4 neurotic disorder 29.9 HTR2A HTR1A
5 dystonia 29.7 SPR HTR2A GCH1 DCTN1 ATP1A3
6 movement disease 29.2 SPR PRODH HTR1A GCH1 DDC ATP1A3
7 parkinson disease, late-onset 28.6 SPR PRODH HTR2A HTR1A GCH1 DDC
8 parkinsonism 10.3
9 pyridoxamine 5-prime-phosphate oxidase deficiency 10.2 SPR DDC
10 tremor 10.2
11 spasmodic dystonia 10.2 GCH1 ATP1A3
12 segmental dystonia 10.2 GCH1 ATP1A3
13 oromandibular dystonia 10.2 GCH1 ATP1A3
14 dystonia 3, torsion, x-linked 10.2 GCH1 ATP1A3
15 hyperphenylalaninemia, bh4-deficient, a 10.2 SPR GCH1
16 hyperphenylalaninemia 10.2 SPR GCH1
17 gilles de la tourette syndrome 10.1
18 torticollis 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 postencephalitic parkinson disease 10.1
21 encephalitis 10.1
22 tetrahydrobiopterin deficiency 10.1 SPR GCH1
23 cannabis abuse 10.1 PRODH HTR1A
24 cervical dystonia 10.1 SPR GCH1
25 dystonia 12 10.1 PRODH GCH1 ATP1A3
26 dystonia 11, myoclonic 10.1 PRODH GCH1 ATP1A3
27 hemidystonia 10.1 SPR GCH1 ATP1A3
28 multifocal dystonia 10.1 SPR GCH1 ATP1A3
29 schizophreniform disorder 10.1 PRODH HTR2A
30 dystonia, dopa-responsive 10.1 SPR GCH1 ATP1A3
31 schizotypal personality disorder 10.0 PRODH HTR2A
32 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.0 SPR PRODH GCH1
33 obsessive-compulsive disorder 10.0
34 cystic fibrosis 10.0
35 ocular motor apraxia 10.0
36 tardive dyskinesia 10.0
37 fragile x syndrome 10.0
38 neuronal intranuclear inclusion disease 10.0
39 chorea, childhood-onset, with psychomotor retardation 10.0
40 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
41 urinary tract infection 10.0
42 respiratory failure 10.0
43 tetanus 10.0
44 complex partial epilepsy 10.0
45 choreatic disease 10.0
46 status epilepticus 10.0
47 cerebral palsy 10.0
48 focal epilepsy 10.0
49 temporal lobe epilepsy 10.0
50 pathologic nystagmus 10.0

Graphical network of the top 20 diseases related to Oculogyric Crisis:



Diseases related to Oculogyric Crisis

Symptoms & Phenotypes for Oculogyric Crisis

UMLS symptoms related to Oculogyric Crisis:


dystonia; dystonia, paroxysmal; dystonia, limb; eyes rolling

MGI Mouse Phenotypes related to Oculogyric Crisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ATP1A3 DCTN1 DDC GAS2L2 GCH1 HTR1A
2 nervous system MP:0003631 9.28 ATP1A3 DCTN1 DDC GAS2L2 GCH1 HTR1A

Drugs & Therapeutics for Oculogyric Crisis

Search Clinical Trials , NIH Clinical Center for Oculogyric Crisis

Genetic Tests for Oculogyric Crisis

Anatomical Context for Oculogyric Crisis

MalaCards organs/tissues related to Oculogyric Crisis:

40
Brain, Eye, Skin, Globus Pallidus

Publications for Oculogyric Crisis

Articles related to Oculogyric Crisis:

(show top 50) (show all 165)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases. 61
33763332 2021
3
A missed case of lurasidone induced laryngospasm: A case study and overview of extrapyramidal symptom identification and treatment. 61
32660283 2021
4
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review. 61
33453040 2021
5
Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E. 61
33178487 2020
6
Electroconvulsive Therapy for Anticholinergic and Benzodiazepine Nonresponsive Tardive Oculogyric Crisis: A Case Report. 61
30893072 2020
7
Ziprasidone-Induced Oculogyric Crisis in a 74-Year-Old Female. 61
32789046 2020
8
Paliperidone-Associated Acute Oculogyric Crisis. 61
32427617 2020
9
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient. 61
32395404 2020
10
Oculogyric crisis in proton pump inhibitor-associated hypomagnesemia. 61
32146379 2020
11
Olanzapine-Induced Withdrawal Oculogyric Crisis in an Adolescent With a Neurodevelopmental Disorder. 61
32641917 2020
12
[Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency]. 61
31703131 2019
13
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. 61
30952622 2019
14
Varied Clinical Presentations of Acute Dystonic Reaction Due to Metoclopramide. 61
30908432 2019
15
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. 61
30689738 2019
16
Dystonic tics in patients with Gilles de la Tourette syndrome. 61
31621889 2019
17
[Oculogyric crisis as an isolated extrapyramidal symptom of auto-intoxication with risperidone]. 61
31560785 2019
18
Movement disorders in emergency settings: a prospective study. 61
30324251 2019
19
Oculogyric Crisis with Downward Deviation - A Photo Essay. 61
30524493 2018
20
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. 61
30485556 2018
21
Episodic gaze deviation in multiple sclerosis - Versive seizures or oculogyric crises? 61
30327227 2018
22
Tardive Oculogyric Crisis With Low-Dose Antipsychotic in an Adolescent: A Case Report. 61
30476369 2018
23
Aripiprazole induced neck dystonia and oculogyric crisis. 61
29453150 2018
24
Teaching Video NeuroImages: Oculogyric crisis in treated Parkinson disease. 61
29335315 2018
25
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. 61
30169182 2017
26
Oculogyric crisis with atypical antipsychotics: A case series. 61
29497196 2017
27
Lurasidone-induced Oculogyric Crisis. 61
29200583 2017
28
Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center. 61
28511603 2017
29
Sepiapterin reductase deficiency: Report of 5 new cases. 61
28189489 2017
30
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. 61
27859928 2017
31
Oculogyric crises: Etiology, pathophysiology and therapeutic approaches. 61
27964831 2017
32
Long-Acting Injectable Antipsychotics in Children and Adolescents. 61
28112539 2017
33
[Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant]. 61
28100326 2017
34
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. 61
28100251 2017
35
Anti-tuberculosis medication-induced oculogyric crisis and the importance of proper history taking. 61
29075142 2017
36
Acute Dystonic Reaction Following General Anesthetic Agent Use. 61
29204316 2017
37
Acute Cervical Dystonia Induced by Clebopride. 61
29333306 2017
38
TUBB4A-Related Leukodystrophy 61
27809427 2016
39
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. 61
27371992 2016
40
Clozapine withdrawal emergent dystonia, oculogyric crisis and rebound psychosis in a single patient. 61
27141293 2016
41
Tetrabenazine-induced oculogyric crisis - a rare complication in the treatment of Gilles de la Tourette syndrome. 61
26955276 2016
42
Incidence of Oculogyric Crisis and Long-Term Outcomes With Second-Generation Antipsychotics in a First-Episode Psychosis Program. 61
26485339 2015
43
Adolf Hitler and His Parkinsonism. 61
26713007 2015
44
Eyelid myokymia in patients with migraine taking topiramate. 61
25828425 2015
45
Oculogyric Crisis with Clozapine: A Case Report and Review of Similar Case Reports in the Literature. 61
26664086 2015
46
Phencyclidine Induced Oculogyric Crisis Responding Well to Conventional Treatment. 61
26101673 2015
47
Ondansetron-induced oculogyric crisis. 61
25303969 2014
48
Midazolam Responsive Oculogyric Crisis, Oral Automatisms, Akinesia and Rigidity Induced by Sedation Withdrawal in a Child. 61
30363915 2014
49
Antipsychotic induced chronic recurrent oculogyric crisis in a patient with obsessive compulsive disorder. 61
24908271 2014
50
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. 61
24484619 2014

Variations for Oculogyric Crisis

ClinVar genetic disease variations for Oculogyric Crisis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP1A3 NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV Pathogenic 37108 rs387907281 GRCh37: 19:42474436-42474436
GRCh38: 19:41970284-41970284
2 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Likely pathogenic 37107 GRCh37: 19:42474557-42474557
GRCh38: 19:41970405-41970405
3 ATP1A3 NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) SNV Likely pathogenic 523558 rs879255368 GRCh37: 19:42489105-42489105
GRCh38: 19:41984953-41984953

Expression for Oculogyric Crisis

Search GEO for disease gene expression data for Oculogyric Crisis.

Pathways for Oculogyric Crisis

GO Terms for Oculogyric Crisis

Cellular components related to Oculogyric Crisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 HTR2A DDC DCTN1 ATP1A3
2 microtubule plus-end GO:0035371 9.16 GAS2L2 DCTN1
3 neuronal cell body GO:0043025 8.92 HTR2A DDC DCTN1 ATP1A3

Biological processes related to Oculogyric Crisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.65 HTR7 HTR2A HTR1A
2 vasoconstriction GO:0042310 9.46 HTR7 HTR1A
3 nitric oxide biosynthetic process GO:0006809 9.43 SPR GCH1
4 behavior GO:0007610 9.4 HTR2A HTR1A
5 neuron projection maintenance GO:1990535 9.37 DCTN1 ATP1A3
6 dopamine biosynthetic process GO:0042416 9.32 GCH1 DDC
7 tetrahydrobiopterin biosynthetic process GO:0006729 9.26 SPR GCH1
8 serotonin receptor signaling pathway GO:0007210 9.16 HTR2A HTR1A
9 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.13 HTR7 HTR2A HTR1A
10 G protein-coupled serotonin receptor signaling pathway GO:0098664 8.8 HTR7 HTR2A HTR1A

Molecular functions related to Oculogyric Crisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein alpha-subunit binding GO:0001965 9.26 HTR2A GAS2L2
2 serotonin binding GO:0051378 9.16 HTR2A HTR1A
3 neurotransmitter receptor activity GO:0030594 9.13 HTR7 HTR2A HTR1A
4 G protein-coupled serotonin receptor activity GO:0004993 8.8 HTR7 HTR2A HTR1A

Sources for Oculogyric Crisis

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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