Progressive external ophthalmoplegia

Symptom Information:

Symptom ID: HPO:0000590
Synonyms:
External ophthalmoplegia, progressive (PEO) [HPO:0000590]
External ophthalmoplegia, progressive (PEO) [OMIM:External ophthalmoplegia, progressive (PEO)]
Progressive external ophthalmoplegia [OMIM:Progressive external ophthalmoplegia]
External ophthalmoplegia, progressive (rare) [OMIM:External ophthalmoplegia, progressive (rare)]
Ophthalmoplegia, progressive external [OMIM:Ophthalmoplegia, progressive external]
Progressive external ophthalmoplegia [MedDRA:10036802]
Quality:
Cross references:
OMIM: "External ophthalmoplegia, progressive (PEO)" [OMIM:External ophthalmoplegia, progressive (PEO)]
OMIM: "Progressive external ophthalmoplegia" [OMIM:Progressive external ophthalmoplegia]
OMIM: "External ophthalmoplegia, progressive (rare)" [OMIM:External ophthalmoplegia, progressive (rare)]
OMIM: "Ophthalmoplegia, progressive external" [OMIM:Ophthalmoplegia, progressive external]
Is a (Direct Parents):
MedDRA Genetic mitochondrial abnormalities NEC
HPO         External ophthalmoplegia
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Abnormality of eye movement(HPO:0000496)
                Ophthalmoparesis(HPO:0000597)
                   Ophthalmoplegia(HPO:0000602)
                      External ophthalmoplegia(HPO:0000544)
                         Progressive external ophthalmoplegia(HPO:0000590)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Cytoplasmic disorders congenital(MedDRA:10052635)
       Genetic mitochondrial abnormalities NEC(MedDRA:10052637)
          Progressive external ophthalmoplegia(HPO:0000590)
Database Frequency: 23 / 7739
Resource:

All diseases associated with this symptom:

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Alpers syndrome (Orphanet:726)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Autosomal dominant optic atrophy, classic type (Orphanet:98673)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Joubert syndrome 21 (OMIM:615636)
Kearns-Sayre syndrome (Orphanet:480)
MELAS (Orphanet:550)
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)