ORPHA:352447
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Synonyms: Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome · mtDNA maintenance syndrome due to MGME1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome · mtDNA maintenance syndrome due to MGME1 deficiency |
| fr | Syndrome d'ophtalmoplégie externe progressive-myopathie-émaciation | Syndrome d'OEP-myopathie-émaciation · Syndrome d'OEP-myopathie-émaciement · Syndrome d'ophtalmoplégie externe progressive-myopathie-émaciement · Syndrome de maintenance de l'ADN mitochondrial par déficit en MGME1 · Syndrome de maintenance de l'ADNmt par déficit en MGME1 |
| de | Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom | Mitochondriales DNA-Maintenance-Syndrom durch MGME1-Mangel · PEO-Myopathie-Kachexie-Syndrom · mtDNA-Maintenance-Syndrom durch MGME1-Mangel |
| es | Síndrome de oftalmoplejía externa progresiva-miopatía-emaciación | PEO-miopatía-emaciación · Síndrome de mantenimiento del ADN mitocondrial por deficiencia de MGME1 · Síndrome de mantenimiento del ADNmt por deficiencia de MGME1 |
| it | Sindrome da oftalmoplegia esterna progressiva - miopatia - emaciamento | |
| nl | Progressieve externe oftalmoplegie - myopathie - emaciatie-syndroom | Mitochondriaal DNA-handhavingssyndroom door MGME1-deficiëntie · PEO - myopathie - emaciatie-syndroom · mtDNA-handhavingssyndroom door MGME1-deficiëntie |
| pt | Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação | |
| pl | Postępująca oftalmoplegia zewnętrzna - miopatia - wyniszczenie | PEO - miopatia - wyniszczenie · Zespół utrzymania mitochondrialnego DNA z powodu niedoboru MGME1 · Zespół utrzymania mtDNA z powodu niedoboru MGME1 |
| cs | Syndrom zahrnující progresivní externí oftalmoplegii, myopatii a emaciaci | Syndrom zahrnující PEO, myopatii a emaciaci · Syndrom poruchy mitochondriální DNA, způsobený deficitem MGME1 · Syndrom poruchy mtDNA způsobený deficitem MGME1 |
| uk | Синдром прогресуючої зовнішньої офтальмоплегії-міопатії-виснаження | Синдром підтримки мітохондріальної ДНК через дефіцит MGME1 · синдром підтримки мтДНК через дефіцит MGME1 · Синдром PEO-міопатія-виснаження |
| zh | 进行性眼外肌麻痹-肌病-消瘦综合征 | MGME1基因缺陷所致线粒体DNA维持综合征 |
| tr | ilerleyici eksternal oftalmopleji-miyopati-zayıflama sendromu | PEO-miyopati-zayıflama sendromu · MGME1 eksikliğine bağlı mtDNA bakım sendromu · MGME1 eksikliğine bağlı mitokondriyal DNA idame sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615084 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | attributed | validated |
| MONDO | 0014039 | E | validated | |
| UMLS | C4707098 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:352456Mitochondrial DNA maintenance syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MGME1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16205 | ENSG00000125871 | 615076 | 20p11.23 | mitochondrial genome maintenance exonuclease 1 | 23313956[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23313956[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2018-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000590 | Progressive external ophthalmoplegia | |
| Frequent (79-30%) | ||
| HP:0040013 | Decreased mitochondrial number | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0002094 | Dyspnea | |
| HP:0003388 | Easy fatigability | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001611 | Hypernasal speech | |
| HP:0001265 | Hyporeflexia | |
| HP:0002808 | Kyphosis | |
| HP:0003198 | Myopathy | |
| HP:0002018 | Nausea | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002719 | Recurrent infections | |
| HP:0002878 | Respiratory failure | |
| HP:0008443 | Spinal deformities | |
| HP:0003306 | Spinal rigidity | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0000787 | Nephrolithiasis | |
| HP:0004396 | Poor appetite | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002014 | Diarrhea | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Excluded (0%) | ||
| HP:0000651 | Diplopia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23313956[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352447
- This record as JSON: /data/d/352447.json