ORPHA:329336
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Synonyms: Adult-onset CPEO with mitochondrial myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Age of onset
- Adult
- Status
- active
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | Adult-onset CPEO with mitochondrial myopathy |
| fr | Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale | OEP chronique de l'adulte avec myopathie mitochondriale |
| de | Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form | CPEO mit mitochondrialer Myopathie mit Beginn im Erwachsenenalter |
| es | Oftalmoplejía externa progresiva crónica con miopatía mitocondrial de inicio en el adulto | CPEO del adulto con miopatía mitocondrial |
| it | Oftalmoplegia esterna progressiva cronica a esordio nell'età adulta con miopatia mitocondriale | CPEO a esordio nell'età adulta con miopatia mitocondriale |
| nl | Chronische progressieve externe oftalmoplegie met mitochondriale myopathie met aanvang op volwassen leeftijd | CPEO met mitochondriale myopathie met aanvang op volwassen leeftijd |
| pt | Oftalmoplegia externa progressiva crónica com miopatia mitocondrial com início no adulto | |
| pl | Przewlekła postępująca oftalmoplegia zewnętrzna o początku w wieku dorosłym z miopatią mitochondrialną | CPEO o początku w wieku dorosłym z miopatią mitochondrialną |
| cs | Chronická progresivní externí ofthalmoplegie nasedající v dospělosti s mitochondriální myopatií | CPEO s mitochondriální myopatií s nástupem v dospělosti |
| uk | Хронічна прогресуюча зовнішня офтальмоплегія з мітохондріальною міопатією у дорослих | CPEO, що починається у дорослих з мітохондріальної міопатії |
| zh | 成人发病型慢性进行性外眼肌麻痹伴线粒体肌病 | 成人发病型CPEO伴线粒体肌病 |
| tr | Mitokondriyal miyopati ile seyreden yetişkin başlangıçlı kronik ilerleyici eksternal oftalmopleji | Mitokondriyal miyopati ile seyreden erişkin başlangıçlı CPEO |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616479 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | attributed | validated |
| MONDO | 0018002 | E | validated | |
| UMLS | C4511138 | 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:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254767Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
rare inborn errors of metabolism; rare genetic 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2742OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome referred to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNASEH1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18466 | ENSG00000171865 | 604123 | 2p25.3 | ribonuclease H1 | 26094573[PMID] |
| RRM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:17296 | ENSG00000048392 | 604712 | 8q22.3 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 23107649[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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 2019-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000590 | Progressive external ophthalmoplegia | |
| Very frequent (99-80%) | ||
| HP:0003546 | Exercise intolerance | |
| HP:0003690 | Limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0002522 | Areflexia of lower limbs | |
| HP:0001488 | Bilateral ptosis | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0003326 | Myalgia | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003133 | Abnormality of the spinocerebellar tracts | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002549 | Deficit in phonologic short-term memory | |
| HP:0000565 | Esotropia | |
| HP:0002141 | Gait imbalance | |
| HP:0002406 | Limb dysmetria | |
| HP:0002505 | Loss of ambulation | |
| HP:0002076 | Migraine | |
| HP:0003722 | Neck flexor weakness | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26094573[PMID]_23446635[PMID]_7732787[PMID]_22987704[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329336
- This record as JSON: /data/d/329336.json