PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4
PEOA4
Number of Symptoms 35
OrphanetNr:
OMIM Id: 610131
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:0000590) Progressive external ophthalmoplegia 23 / 7739
3
(HPO:0000508) Ptosis 459 / 7739
4
(HPO:0100704) Cortical visual impairment rare [HPO:skoehler] 28 / 7739
5
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
6
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
7
(HPO:0001327) Photomyoclonic seizures 125 / 7739
8
(HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
9
(HPO:0002019) Constipation rare [HPO:skoehler] 194 / 7739
10
(HPO:0002020) Gastroesophageal reflux rare [HPO:skoehler] 101 / 7739
11
(HPO:0001392) Abnormality of the liver 28 / 7739
12
(HPO:0001508) Failure to thrive rare [HPO:skoehler] 454 / 7739
13
(HPO:0001510) Growth delay 295 / 7739
14
(HPO:0011675) Arrhythmia 226 / 7739
15
(HPO:0002151) Increased serum lactate 92 / 7739
16
(HPO:0000833) Glucose intolerance 20 / 7739
17
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
(HPO:0003323) Progressive muscle weakness 17 / 7739
19
(HPO:0001324) Muscle weakness 859 / 7739
20
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
(HPO:0003326) Myalgia 143 / 7739
22
(HPO:0003546) Exercise intolerance 62 / 7739
23
(HPO:0003690) Limb muscle weakness 41 / 7739
24
(HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
25
(HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
26
(HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
27
(HPO:0010547) Muscle flaccidity 466 / 7739
28
(OMIM) Muscle biopsy shows decreased activity of cytochrome c oxidase 3 / 7739
29
(HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
30
(OMIM) Delayed gastric emptying 2 / 7739
31
(OMIM) Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions 3 / 7739
32
(HPO:0003676) Progressive disorder 148 / 7739
33
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
(HPO:0003828) Variable expressivity 130 / 7739
35
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively ...
Clinical Description OMIM Longley et al. (2006) described a female patient with late-onset progressive external ophthalmoplegia (PEO) caused by heterozygous mutation in the gene encoding the catalytic subunit of DNA polymerase gamma (POLG2; 604983). The patient, aged 60 years, developed exercise ...
Molecular genetics OMIM Longley et al. (2006) screened for mutation in the POLG2 gene (604983) in 101 patients with PEO and multiple mtDNA deletions in skeletal muscle in whom no mutations in genes known to be associated with autosomal dominant PEO ...