PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 5
PEOA5
Number of Symptoms 24
OrphanetNr:
OMIM Id: 613077
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000501) Glaucoma rare [HPO:skoehler] 180 / 7739
2
(HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
3
(HPO:0007906) Increased intraocular pressure 30 / 7739
4
(HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
5
(HPO:0001488) Bilateral ptosis 42 / 7739
6
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
7
(HPO:0001315) Reduced tendon reflexes 160 / 7739
8
(HPO:0000739) Anxiety rare [HPO:skoehler] 67 / 7739
9
(HPO:0000740) Episodic paroxysmal anxiety 8 / 7739
10
(HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
11
(HPO:0001265) Hyporeflexia rare [HPO:skoehler] 208 / 7739
12
(HPO:0002066) Gait ataxia rare [HPO:skoehler] 327 / 7739
13
(HPO:0001284) Areflexia 198 / 7739
14
(HPO:0000716) Depression 99 / 7739
15
(HPO:0001260) Dysarthria 329 / 7739
16
(HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
17
(HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
18
(HPO:0003200) Ragged-red muscle fibers 37 / 7739
19
(HPO:0003750) Increased muscle fatiguability 8 / 7739
20
(HPO:0003198) Myopathy 151 / 7739
21
(HPO:0003546) Exercise intolerance 62 / 7739
22
(OMIM) Decreased activity of cytochrome c oxidase seen on muscle biopsy 3 / 7739
23
(OMIM) Gastrointestinal disturbances 1 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tyynismaa et al. (2009) reported a large 4-generation North American family of European origin in which 13 individuals had autosomal dominant progressive external ophthalmoplegia. The diagnosis was based on the finding of ophthalmoparesis and ptosis with onset late ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing in a large North American family with autosomal dominant PEO, Tyynismaa et al. (2009) identified a heterozygous mutation in the RRM2B gene (R327X; 604712.0001) that segregated with the disorder. Affected ...