Human Phenotype Ontology 
Grandparent Node:
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Ophthalmoplegia (HP:0000602)help
Parent Node:
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External ophthalmoplegia (HP:0000544)help
..Starting node
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Progressive external ophthalmoplegia (HP:0000590)help
Term ID: 590
Name: Progressive external ophthalmoplegia
Synonym: External ophthalmoplegia, progressive
Definition: Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
Comments:
Reference: HP:0000590
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNonprogressive restrictive external ophthalmoplegia (HP:0007831) help
..expandRecurrent external ophthalmoplegia (HP:0007250) help
..expandRestrictive external ophthalmoplegia (HP:0007936) 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:0000590HP:0000590Progressive external ophthalmoplegia0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency ofHP:0040283 - Occasional90
HP:0000590HP:0000590Progressive external ophthalmoplegia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0000590HP:0000590Progressive external ophthalmoplegia0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040281 - Very frequent14
HP:0000590HP:0000590Progressive external ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040281 - Very frequent14
HP:0000590HP:0000590Progressive external ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040281 - Very frequent14
HP:0000590HP:0000590Progressive external ophthalmoplegia0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000590HP:0000590Progressive external ophthalmoplegia0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0000590HP:0000590Progressive external ophthalmoplegia0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000590HP:0000590Progressive external ophthalmoplegia0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040281 - Very frequent41
HP:0000590HP:0000590Progressive external ophthalmoplegia0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000590HP:0000590Progressive external ophthalmoplegia0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000590HP:0000590Progressive external ophthalmoplegia0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040281 - Very frequent11
HP:0000590HP:0000590Progressive external ophthalmoplegia0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0000590HP:0000590Progressive external ophthalmoplegia0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000590HP:0000590Progressive external ophthalmoplegia0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000590HP:0000590Progressive external ophthalmoplegia0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040280 - Obligate3
HP:0000590HP:0000590Progressive external ophthalmoplegia0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000590HP:0000590Progressive external ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040280 - Obligate125
HP:0000590HP:0000590Progressive external ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent125
HP:0000590HP:0000590Progressive external ophthalmoplegia0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0000590HP:0000590Progressive external ophthalmoplegia0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0000590HP:0000590Progressive external ophthalmoplegia0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0000590HP:0000590Progressive external ophthalmoplegia0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000590HP:0000590Progressive external ophthalmoplegia0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040282 - Frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0000590HP:0000590Progressive external ophthalmoplegia0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000590HP:0000590Progressive external ophthalmoplegia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0000590HP:0000590Progressive external ophthalmoplegia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0000590HP:0000590Progressive external ophthalmoplegia0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0000590HP:0000590Progressive external ophthalmoplegia0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 20HP:0040283 - Occasional56


Genes (40) :ACADS APTX ATP8 ATXN3 C1QBP COX1 COX2 COX3 DGUOK DNA2 GIPC1 MGME1 ND1 ND4 ND5 ND6 NOTCH2NLC OPA1 POLG POLG2 POLRMT RNASEH1 RRM2B SLC25A4 TK2 TOP3A TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNW TWNK TYMP VARS2

Diseases (36) :OMIM:201470 OMIM:208920 ORPHA:480 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:617713 ORPHA:550 ORPHA:329314 OMIM:617070 ORPHA:352470 OMIM:615156 ORPHA:98897 OMIM:615084 ORPHA:352447 ORPHA:1215 OMIM:165500 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:619743 ORPHA:329336 OMIM:616479 OMIM:613077 OMIM:609283 ORPHA:254875 OMIM:617069 OMIM:618098 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:609286 OMIM:615917
 

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