Progressive external ophthalmoplegia - myopathy - emaciation

General Information (adopted from Orphanet):

Synonyms, Signs: MTDPS11
mtDNA maintenance syndrome due to MGME1 deficiency
PEO - myopathy - emaciation
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
Number of Symptoms 42
OrphanetNr: 352447
OMIM Id: 615084
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial DNA maintenance syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis 78 / 7739
2
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
3
 (HPO:0010628) Facial palsy 146 / 7739
4
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
7
 (HPO:0003388) Easy fatigability 34 / 7739
8
 (HPO:0001265) Hyporeflexia 208 / 7739
9
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
10
 (HPO:0001618) Dysphonia 28 / 7739
11
 (HPO:0002808) Kyphosis 289 / 7739
12
 (HPO:0003306) Spinal rigidity 30 / 7739
13
 (HPO:0008443) Spinal deformities 5 / 7739
14
 (HPO:0002039) Anorexia 62 / 7739
15
 (HPO:0002014) Diarrhea rare [HPO:skoehler] 225 / 7739
16
 (HPO:0002017) Nausea and vomiting 134 / 7739
17
 (HPO:0002028) Chronic diarrhea 51 / 7739
18
 (HPO:0002018) Nausea rare [HPO:skoehler] 44 / 7739
19
 (HPO:0011675) Arrhythmia rare [HPO:skoehler] 226 / 7739
20
 (HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 141 / 7739
21
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
22
 (HPO:0002094) Dyspnea 132 / 7739
23
 (HPO:0001611) Nasal speech 48 / 7739
24
 (HPO:0002719) Recurrent infections 107 / 7739
25
 (HPO:0007126) Proximal amyotrophy 29 / 7739
26
 (HPO:0003700) Generalized amyotrophy 39 / 7739
27
 (HPO:0003546) Exercise intolerance 62 / 7739
28
 (OMIM) Emaciation, profound 1 / 7739
29
 (OMIM) [DEL]Ragged red fibers seen on muscle biopsy 10 / 7739
30
 (MedDRA:10051403) Mitochondrial DNA deletion 6 / 7739
31
 (OMIM) Increased serum creatine kinase, mild 2 / 7739
32
 (OMIM) Respiratory insufficiency, severe, due to muscle weakness 1 / 7739
33
 (OMIM) Abdominal fullness (in some patients) 1 / 7739
34
 (MedDRA:10059396) Mitochondrial DNA depletion 5 / 7739
35
 (OMIM) COX-negative fibers 1 / 7739
36
 (OMIM) Ventilation may be required 1 / 7739
37
 (HPO:0003676) Progressive disorder 148 / 7739
38
 (OMIM) Gastrointestinal symptoms (in some patients) 1 / 7739
39
 (OMIM) Muscle weakness, variable 1 / 7739
40
 (OMIM) Variable deficiencies of mitochondrial respiratory chain enzymes 1 / 7739
41
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features ...
Clinical Description OMIM Kornblum et al. (2013) reported a Lebanese family in which 3 sibs had a severe multisystem mitochondrial disorder starting in the first decade. Initial symptoms included ptosis, progressive external ophthalmoplegia, and diffuse skeletal muscle wasting and weakness. The ...
Molecular genetics OMIM In 5 affected members from 2 unrelated families with mitochondrial DNA depletion syndrome-11, Kornblum et al. (2013) identified a homozygous truncating mutation in the MGME1 gene (W152X; 615076.0001). The mutation was identified by exome sequencing. A second mutation ...