ORPHA:254886
Autosomal recessive progressive external ophthalmoplegia
Synonyms: arPEO
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive progressive external ophthalmoplegia | arPEO |
| fr | Ophtalmoplégie externe progressive autosomique récessive | OEPar · arPEO |
| de | Ophthalmoplegie, externe progressive, autosomal-rezessive | = en |
| es | Oftalmoplejia externa progresiva autosómica recesiva | = en |
| it | Oftalmoplegia esterna progressiva autosomica recessiva | = en |
| nl | Autosomaal recessieve progressieve externe oftalmoplegie | = en |
| pt | Oftalmoplegia externa progressiva autossómica recessiva | = en |
| pl | Autosomalna recesywna postępująca oftalmoplegia zewnętrzna | = en |
| cs | Autozomálně recesivní progresivní externí oftalmoplegie | = en |
| uk | Аутосомно-рецесивна прогресуюча зовнішня офтальмоплегія | = en |
| zh | 常染色体隐性遗传性进行性外眼肌麻痹 | = en |
| tr | Otozomal resesif ilerleyici eksternal oftalmopleji | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258450 | BTNT | validated | |
| OMIM | 617069 | BTNT | validated | |
| OMIM | 618098 | BTNT | validated | |
| OMIM | 620647 | BTNT | validated | |
| ICD-10 | H49.4 | NTBT | attributed | validated |
| ICD-11 | 9C82.0 | NTBT | index | validated |
| MONDO | 0016810 | E | validated | |
| MeSH | C564926 | E | validated | |
| UMLS | C1850303 | E | validated | |
| GARD | 1191 | 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 (3):
- ORPHA:254807Multiple mitochondrial DNA deletion syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:520820Progressive external ophthalmoplegia
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 11431686[PMID]_20301791[PMID] |
| RRM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10451 | ENSG00000167325 | 180410 | 11p15.4 | ribonucleotide reductase catalytic subunit M1 | 35617047[PMID] |
| TK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11831 | ENSG00000166548 | 188250 | 16q21 | thymidine kinase 2 | 21937588[PMID] |
| TOP3A | Disease-causing germline mutation(s) in | Assessed | HGNC:11992 | ENSG00000177302 | 601243 | 17p11.2 | DNA topoisomerase III alpha | 29290614[PMID]_36544354[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
42 annotations · validated 2018-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers | |
| HP:0002015 | Dysphagia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0010628 | Facial palsy | |
| HP:0000298 | Mask-like facies | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0003198 | Myopathy | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003390 | Sensory axonal neuropathy | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000479 | Abnormal retinal morphology | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0002345 | Action tremor | |
| HP:0001251 | Ataxia | |
| HP:0002067 | Bradykinesia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0000716 | Depression | |
| HP:0002936 | Distal sensory impairment | |
| HP:0007641 | Dyschromatopsia | |
| HP:0003546 | Exercise intolerance | |
| HP:0030237 | Hand muscle weakness | |
| HP:0000365 | Hearing impairment | |
| HP:0001265 | Hyporeflexia | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0003552 | Muscle stiffness | |
| HP:0000648 | Optic atrophy | |
| HP:0100653 | Optic neuritis | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0002362 | Shuffling gait | |
| HP:0025403 | Stooped posture | |
| HP:0000505 | Visual impairment | |
| HP:0001621 | Weak voice | |
| Very rare (<4-1%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003691 | Scapular winging | |
Annotation source: 8628476[PMID]_16634032[PMID]_20837861[PMID]_21670405[PMID]_21937588[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254886
- This record as JSON: /data/d/254886.json