Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Oculogyric crisis (HP:0010553)help
Term ID: 10553
Name: Oculogyric crisis
Synonym:
Definition: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.
Comments:
Reference: HP:0010553
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandLimb dystonia (HP:0002451) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010553HP:0010553Oculogyric crisis0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0010553HP:0010553Oculogyric crisis0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0010553HP:0010553Oculogyric crisis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0010553HP:0010553Oculogyric crisis0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0010553HP:0010553Oculogyric crisis0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0010553HP:0010553Oculogyric crisis0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0010553HP:0010553Oculogyric crisis0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0010553HP:0010553Oculogyric crisis0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040282 - Frequent24
HP:0010553HP:0010553Oculogyric crisis0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0010553HP:0010553Oculogyric crisis0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0010553HP:0010553Oculogyric crisis0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0010553HP:0010553Oculogyric crisis0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0010553HP:0010553Oculogyric crisis0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0010553HP:0010553Oculogyric crisis0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2


Genes (13) :ACTB ATP13A2 DDC DNAJC12 DNM1L GRIN1 PCBD1 PTS SLC18A2 SLC6A3 SPR TH TSPOAP1

Diseases (15) :OMIM:607371 ORPHA:306674 OMIM:608643 OMIM:617384 ORPHA:330050 ORPHA:208447 OMIM:614254 ORPHA:1578 ORPHA:13 ORPHA:352649 OMIM:618049 ORPHA:238455 OMIM:613135 ORPHA:70594 ORPHA:101150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.