Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Ataxia (HP:0001251)help
..Starting node
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Episodic ataxia (HP:0002131)help
Term ID: 2131
Name: Episodic ataxia
Synonym: Intermittent cerebellar ataxia; Paroxysmal ataxia
Definition: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
Comments:
Reference: HP:0002131
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandDysdiadochokinesis (HP:0002075) help
..expandDysmetria (HP:0001310) help
..expandDyssynergia (HP:0010867) help
..expandGait ataxia (HP:0002066) help
..expandLimb ataxia (HP:0002070) help
..expandNonprogressive cerebellar ataxia (HP:0002470) help
..expandProgressive cerebellar ataxia (HP:0002073) help
..expandSpastic ataxia (HP:0002497) help
..expandTruncal ataxia (HP:0002078) 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:0002131HP:0002131Episodic ataxia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002131HP:0002131Episodic ataxia0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0002131HP:0002131Episodic ataxia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002131HP:0002131Episodic ataxia0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0002131HP:0002131Episodic ataxia0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0002131HP:0002131Episodic ataxia0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5.146
HP:0002131HP:0002131Episodic ataxia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002131HP:0002131Episodic ataxia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002131HP:0002131Episodic ataxia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002131HP:0002131Episodic ataxia0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002131HP:0002131Episodic ataxia0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002131HP:0002131Episodic ataxia0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002131HP:0002131Episodic ataxia0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002131HP:0002131Episodic ataxia0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0002131HP:0002131Episodic ataxia0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002131HP:0002131Episodic ataxia0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0002131HP:0002131Episodic ataxia0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0002131HP:0002131Episodic ataxia0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002131HP:0002131Episodic ataxia0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002131HP:0002131Episodic ataxia0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002131HP:0002131Episodic ataxia0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002131HP:0002131Episodic ataxia0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002131HP:0002131Episodic ataxia0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002131HP:0002131Episodic ataxia0SCN2A CL E G H632610588OMIM:618924EPISODIC ATAXIA, TYPE 9; EA9427
HP:0002131HP:0002131Episodic ataxia0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002131HP:0002131Episodic ataxia0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0002131HP:0002131Episodic ataxia0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002131HP:0002131Episodic ataxia0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0002131HP:0002131Episodic ataxia0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0002131HP:0002131Episodic ataxia0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder.12
HP:0002131HP:0002131Episodic ataxia0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002131HP:0002131Episodic ataxia0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1


Genes (28) :ARX ATP1A2 ATP1A3 CACNA1A CACNB4 CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 KCNA1 NEUROD2 NFIX OTC PDHA1 PIGP PIGQ PNKP SCN1B SCN2A SIK1 SLC1A3 SLC25A22 SLC2A1 SLC6A19 TPK1 TRIM8

Diseases (16) :ORPHA:1934 OMIM:602481 OMIM:601338 OMIM:108500 OMIM:607682 OMIM:613855 OMIM:160120 ORPHA:420179 OMIM:311250 OMIM:312170 OMIM:618924 OMIM:612656 OMIM:601042 ORPHA:53583 OMIM:234500 OMIM:614458
 

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