PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 2
PEOA2
Number of Symptoms 23
OrphanetNr:
OMIM Id: 609283
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(HPO:0000508) Ptosis 459 / 7739
3
(HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
4
(HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
5
(HPO:0001252) Muscular hypotonia 990 / 7739
6
(HPO:0003548) Subsarcolemmal accumulations of abnormally shaped mitochondria 9 / 7739
7
(HPO:0003324) Generalized muscle weakness 48 / 7739
8
(HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
11
(HPO:0003546) Exercise intolerance 62 / 7739
12
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
13
(HPO:0003200) Ragged-red muscle fibers 37 / 7739
14
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
15
(OMIM) Muscle biopsy shows decreased activity of cytochrome c oxidase 3 / 7739
16
(OMIM) Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions 3 / 7739
17
(OMIM) Sensorineural hearing loss has been reported 1 / 7739
18
(HPO:0003676) Progressive disorder 148 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
(HPO:0003581) Adult onset 117 / 7739
21
(OMIM) Muscle biopsy shows ragged red fibers 4 / 7739
22
(OMIM) Serum lactate is usually normal 1 / 7739
23
(OMIM) Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance ...
Clinical Description OMIM Kaukonen et al. (1996, 1999) reported several Italian adPEO families. All patients had progressive external ophthalmoplegia and ptosis, but no generalized muscle weakness. Age at onset was approximately 35 years. Several affected family members had sensorineural hearing loss. ...
Molecular genetics OMIM In affected members of 5 4q-linked Italian families with adPEO reported by Kaukonen et al. (1996, 1999), Kaukonen et al. (2000) identified a heterozygous mutation in the ANT1 gene (103220.0001). The affected families originated from the Romagna County ...