ORPHA:663
Mitochondrial DNA-related progressive external ophthalmoplegia
Synonyms: Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia · mtDNA-related progressive external ophthalmoplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance, Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA-related progressive external ophthalmoplegia | Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia · mtDNA-related progressive external ophthalmoplegia |
| fr | Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial | CPEO de transmission maternelle · Ophtalmoplégie externe progressive chronique de transmission maternelle · Ophtalmoplégie externe progressive due à une mutation de l'ADNmt |
| de | Ophthalmoplegie, chronische externe progressive, maternal-vererbte | CPEO, maternal-vererbte |
| es | Oftalmoplejía externa progresiva asociada al ADN mitocondrial | CPEO de herencia materna · Oftalmoplejía externa progresiva asociada al ADNmt · Oftalmoplejía externa progresiva crónica de herencia materna |
| it | Oftalmoplegia esterna progressiva a trasmissione materna | CPEO a trasmissione materna · Oftalmoplegia esterna progressiva cronica a trasmissione materna |
| nl | Mitochondriaal DNA-gerelateerde progressieve externe oftalmoplegie | Maternaal overgeërfde CPEO · Maternaal overgeërfde chronische progressieve externe oftalmoplegie · mtDNA-gerelateerde progressieve externe oftalmoplegie |
| pt | Oftalmoplegia externa progressiva ADN mitocondrial-relacionada | CPEO com hereditariedade materna · Oftalmoplegia externa progressiva ADNmt-relacionada · Oftalmoplegia externa progressiva crónica com hereditariedade materna |
| pl | Postępująca oftalmoplegia zewnętrzna dziedziczona po matce | CPEO dziedziczona po matce · Postępująca oftalmoplegia zewnętrzna dziedziczona po matce |
| cs | Progresivní externí oftalmoplegie zděděná po matce | CPEO zděděná po matce · Chronická progresivní externí oftalmoplegie zděděná po matce |
| uk | Прогресуюча зовнішня офтальмоплегія, повязана з мітохондріальною ДНК | Успадкована від матері хронічна прогресуюча зовнішня офтальмоплегія · CPEO, успадкований по матері · Повязана з мтДНК прогресуюча зовнішня офтальмоплегія |
| zh | 线粒体DNA相关进行性眼外肌麻痹 | 母体遗传慢性进行性外眼肌麻痹 |
| tr | Mitokondriyal DNA-ilişkili ilerleyici eksternal oftalmopleji | Maternal-geçişli PEO · mtDNA-ilişkili ilerleyici eksternal oftalmopleji · Maternal-geçişli kronik ilerleyici eksternal oftalmopleji |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H49.4 | E | specific | validated |
| ICD-11 | 9C82.0 | NTBT | attributed | validated |
| MONDO | 0019016 | E | validated | |
| UMLS | C0162674 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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:520820Progressive external ophthalmoplegia
rare genetic diseases; rare ophthalmic disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TL1 | Candidate gene tested in | Not yet assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | |
| MT-TL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7491 | ENSG00000210191 | 590055 | mitochondria | mitochondrially encoded tRNA-Leu (CUN) 2 | 23696415[PMID] |
| MT-TN | Disease-causing germline mutation(s) in | Assessed | HGNC:7493 | ENSG00000210135 | 590010 | mitochondria | mitochondrially encoded tRNA-Asn (AAU/C) | 23696415[PMID] |
| MT-TS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7497 | ENSG00000210151 | 590080 | mitochondria | mitochondrially encoded tRNA-Ser (UCN) 1 | 23696415[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.
6
HPO phenotypes
17 annotations · validated 2019-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003800 | Muscle abnormality related to mitochondrial dysfunction | |
| HP:0000590 | Progressive external ophthalmoplegia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0008316 | Abnormal mitochondria in muscle tissue | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001348 | Brisk reflexes | |
| HP:0003457 | EMG abnormality | |
| HP:0000821 | Hypothyroidism | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0000716 | Depression | |
| HP:0001256 | Intellectual disability, mild | |
| Excluded (0%) | ||
| HP:0000651 | Diplopia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22189266[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/663
- This record as JSON: /data/d/663.json