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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Paroxysmal dystonia (HP:0002268)help
Term ID: 2268
Name: Paroxysmal dystonia
Synonym: Episodic dystonia
Definition: A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
Comments:
Reference: HP:0002268
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
..expandOculogyric crisis (HP:0010553) 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:0002268HP:0002268Paroxysmal dystonia0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent94
HP:0002268HP:0002268Paroxysmal dystonia0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent188
HP:0002268HP:0002268Paroxysmal dystonia0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent225
HP:0002268HP:0002268Paroxysmal dystonia0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent88
HP:0002268HP:0002268Paroxysmal dystonia0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent1
HP:0002268HP:0002268Paroxysmal dystonia0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent172
HP:0002268HP:0002268Paroxysmal dystonia0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002268HP:0002268Paroxysmal dystonia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002268HP:0002268Paroxysmal dystonia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002268HP:0002268Paroxysmal dystonia0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent321
HP:0002268HP:0002268Paroxysmal dystonia0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0002268HP:0002268Paroxysmal dystonia0PRDM13 CL E G H5933613998OMIM:6199092
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0002268HP:0002268Paroxysmal dystonia0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0002268HP:0002268Paroxysmal dystonia0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0002268HP:0002268Paroxysmal dystonia0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0002268HP:0002268Paroxysmal dystonia0TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeHP:0040282 - Frequent271
HP:0002268HP:0002268Paroxysmal dystonia0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0002268HP:0002268Paroxysmal dystonia0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0002268HP:0002268Paroxysmal dystonia0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0002268HP:0002268Paroxysmal dystonia0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102


Genes (19) :CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 DLAT FARS2 KCNT1 PNKD PRDM13 PRRT2 SEPSECS SLC2A1 TBC1D24 TSEN15 TSEN2 TSEN34 TSEN54

Diseases (12) :ORPHA:98784 OMIM:245348 ORPHA:79244 ORPHA:466722 OMIM:118800 OMIM:619909 OMIM:602066 OMIM:128200 ORPHA:2524 OMIM:606777 OMIM:608105 ORPHA:163727
 

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