PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 3
PEOA3
Number of Symptoms 52
OrphanetNr:
OMIM Id: 609286
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:0000135) Hypogonadism rare [HPO:skoehler] 89 / 7739
2
(HPO:0008209) Premature ovarian failure rare [HPO:skoehler] 28 / 7739
3
(HPO:0000508) Ptosis 459 / 7739
4
(HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
5
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
6
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
7
(HPO:0001730) Progressive hearing impairment rare [HPO:skoehler] 29 / 7739
8
(HPO:0001300) Parkinsonism Very rare [HPO:skoehler] 75 / 7739
9
(HPO:0003390) Sensory axonal neuropathy rare [HPO:skoehler] 26 / 7739
10
(HPO:0001327) Photomyoclonic seizures 125 / 7739
11
(HPO:0002015) Dysphagia 301 / 7739
12
(HPO:0001260) Dysarthria rare [HPO:skoehler] 329 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0001288) Gait disturbance 318 / 7739
15
(HPO:0010871) Sensory ataxia 7 / 7739
16
(HPO:0000726) Dementia 131 / 7739
17
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
18
(HPO:0001284) Areflexia 198 / 7739
19
(HPO:0012378) Fatigue 50 / 7739
20
(HPO:0001265) Hyporeflexia 208 / 7739
21
(HPO:0000716) Depression 99 / 7739
22
(HPO:0001618) Dysphonia 28 / 7739
23
(HPO:0000820) Abnormality of the thyroid gland rare [HPO:skoehler] 19 / 7739
24
(HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
25
(HPO:0001638) Cardiomyopathy rare [HPO:skoehler] 192 / 7739
26
(HPO:0001637) Abnormality of the myocardium 76 / 7739
27
(HPO:0011675) Arrhythmia 226 / 7739
28
(HPO:0001662) Bradycardia rare [HPO:skoehler] 41 / 7739
29
(HPO:0002151) Increased serum lactate 92 / 7739
30
(HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
31
(HPO:0003326) Myalgia 143 / 7739
32
(HPO:0003200) Ragged-red muscle fibers 37 / 7739
33
(HPO:0003690) Limb muscle weakness 41 / 7739
34
(HPO:0003323) Progressive muscle weakness 17 / 7739
35
(HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
36
(HPO:0003546) Exercise intolerance 62 / 7739
37
(HPO:0003548) Subsarcolemmal accumulations of abnormally shaped mitochondria 9 / 7739
38
(HPO:0003701) Proximal muscle weakness 105 / 7739
39
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
40
(HPO:0003581) Adult onset 117 / 7739
41
(OMIM) Parkinsonism has been described in 1 family 1 / 7739
42
(OMIM) Avoidant personality 1 / 7739
43
(OMIM) Gait difficulties, late-onset 1 / 7739
44
(HPO:0003676) Progressive disorder 148 / 7739
45
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
47
(OMIM) Hypo- or areflexia 4 / 7739
48
(HPO:0002059) Cerebral atrophy 171 / 7739
49
(OMIM) Dementia, late-onset 1 / 7739
50
(OMIM) Dysphonia, late-onset 1 / 7739
51
(OMIM) Dysphagia, late-onset 1 / 7739
52
(OMIM) Decreased activity of cytochrome c oxidase 3 / 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. Patients with C10ORF2-linked adPEO may have other ...
Clinical Description OMIM Suomalainen et al. (1992) described a Finnish family with PEO in association with deletions of mitochondrial DNA of different sizes. There were 9 affected individuals spanning 3 generations, with one instance of male-to-male transmission. The proband had a ...
Molecular genetics OMIM In 12 different pedigrees of various ethnic origin, including those reported by Suomalainen et al. (1995) and Li et al. (1999), Spelbrink et al. (2001) identified 11 different coding region mutations in the C10ORF2 gene (see, e.g., 606075.0001) ...