ORPHA:254892
Autosomal dominant progressive external ophthalmoplegia
Synonyms: adPEO
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- 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 skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant progressive external ophthalmoplegia | adPEO |
| fr | Ophtalmoplégie externe progressive autosomique dominante | OEPad · adPEO |
| de | Ophthalmoplegie, externe progressive, autosomal-dominante | = en |
| es | Oftalmoplejía externa progresiva autosómica dominante | = en |
| it | Oftalmoplegia esterna progressiva autosomica dominante | = en |
| nl | Autosomaal dominante progressieve externe oftalmoplegie | = en |
| pt | Oftalmoplegia externa progressiva autossómica dominante | = en |
| pl | Autosomalna dominująca prostępująca oftalmoplegia zewnętrzna | = en |
| cs | Autozomálně dominantní progresivní externí oftalmoplegie | = en |
| uk | Аутосомно-домінантна прогресуюча зовнішня офтальмоплегія | = en |
| zh | 常染色体显性遗传性进行性眼外肌麻痹 | = en |
| tr | Otozomal dominant ilerleyici eksternal oftalmopleji | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157640 | E | validated | |
| OMIM | 609283 | BTNT | validated | |
| OMIM | 609286 | BTNT | validated | |
| OMIM | 610131 | BTNT | validated | |
| OMIM | 613077 | BTNT | validated | |
| ICD-10 | H49.4 | NTBT | attributed | validated |
| ICD-11 | 9C82.0 | NTBT | index | validated |
| MONDO | 0008003 | E | validated | |
| UMLS | C5231255 | 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.
4
Genes
5 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] |
| POLG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9180 | ENSG00000256525 | 604983 | 17q23.3 | DNA polymerase gamma 2, accessory subunit | 21555342[PMID] |
| RRM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:17296 | ENSG00000048392 | 604712 | 8q22.3 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 21646632[PMID]_19664747[PMID] |
| SLC25A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10990 | ENSG00000151729 | 103220 | 4q35.1 | solute carrier family 25 member 4 | 21519523[PMID]_10926541[PMID] |
| TWNK | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 21519523[PMID]_11431692[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
81 annotations · validated 2018-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000544 | External ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0012103 | Abnormality of the mitochondrion | |
| HP:0002067 | Bradykinesia | |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003546 | Exercise intolerance | |
| HP:0010628 | Facial palsy | |
| HP:0012378 | Fatigue | |
| HP:0000338 | Hypomimic face | |
| HP:0003690 | Limb muscle weakness | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0003198 | Myopathy | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002322 | Resting tremor | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000739 | Anxiety | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0005110 | Atrial fibrillation | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0002019 | Constipation | |
| HP:0000716 | Depression | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0003388 | Easy fatigability | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001349 | Facial diplegia | |
| HP:0001508 | Failure to thrive | |
| HP:0007042 | Focal white matter lesions | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002578 | Gastroparesis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001952 | Glucose intolerance | |
| HP:0000365 | Hearing impairment | |
| HP:0002375 | Hypokinesia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001254 | Lethargy | |
| HP:0003326 | Myalgia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002063 | Rigidity | |
| HP:0001337 | Tremor | |
| HP:0004308 | Ventricular arrhythmia | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0100543 | Cognitive impairment | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000969 | Edema | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000853 | Goiter | |
| HP:0000836 | Hyperthyroidism | |
| HP:0001276 | Hypertonia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001946 | Ketosis | |
| HP:0002076 | Migraine | |
| HP:0003394 | Muscle spasm | |
| HP:0000017 | Nocturia | |
| HP:0000939 | Osteoporosis | |
| HP:0001962 | Palpitations | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15258213[PMID]_24091712[PMID]_24076137[PMID]_19664747[PMID]_21555342[PMID]_16685652[PMID]_20479361[PMID]_10364542[PMID]_7365499[PMID]_1978558[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254892
- This record as JSON: /data/d/254892.json