ORPHA:254864
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Synonyms: Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy · Mitochondrial myopathy with reversible COX deficiency · Mitochondrial myopathy with reversible complex IV deficiency · Reversible infantile cytochrome C oxidase deficiency · Reversible infantile respiratory chain deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy · Mitochondrial myopathy with reversible COX deficiency · Mitochondrial myopathy with reversible complex IV deficiency · Reversible infantile cytochrome C oxidase deficiency · Reversible infantile respiratory chain deficiency |
| fr | Myopathie mitochondriale avec déficit réversible en cytochrome C oxydase | Myopathie mitochondriale avec déficit réversible en COX · Myopathie mitochondriale avec déficit réversible en complexe IV |
| de | Myopathie, mitochondriale, mit reversiblem Cytochrom-c-Oxidase-Mangel | Atmungsketten-Störung, infantile reversible Form · COX-Mangel, benigner · Cytochrom-c-Oxidase-Mangel des Kindes, reversibel · Myopathie, mitochondriale, mit reversiblem COX-Mangel · Myopathie, mitochondriale, mit reversiblem Komplex IV-Mangel |
| es | Miopatía mitocondrial con deficiencia reversible de citocromo C oxidasa | Deficiencia benigna de COX · Deficiencia reversible de citocromo C oxidasa del lactante · Deficiencia reversible de la cadena respiratoria del lactante · Miopatía con deficiencia reversible de citocromo C oxidasa del lactante · Miopatía mitocondrial con deficiencia reversible de COX · Miopatía mitocondrial con deficiencia reversible de complejo IV |
| it | Miopatia mitocondriale con deficit reversibile di citocromo C ossidasi | |
| nl | Mitochondriale myopathie met omkeerbare cytochroom C-oxidasedeficiëntie | Goedaardige COX-deficiëntie · Infantiele omkeerbare cytochroom C-oxidasedeficiëntiemyopathie · Mitochondriale myopathie met omkeerbare COX-deficiëntie · Mitochondriale myopathie met omkeerbare complex IV-deficiëntie · Omkeerbare infantiele ademhalingsketendeficiëntie · Omkeerbare infantiele cytochroom C-oxidasedeficiëntie |
| pt | Miopatia mitocondrial com deficiência reversível de citocromo C oxidase | Miopatia mitocondrial com deficiência da COX reversível · Miopatia mitocondrial com deficiência do complexo IV reversível |
| pl | Miopatia mitochondrialna z odwracalnym niedoborem oksydazy cytochromu c | Dziecięcy odwracalny Niedobór oksydazy cytochromu c · Łagodny Niedobór COX · Miopatia mitochondrialna z odwracalnym niedoborem COX · Miopatia mitochondrialna z odwracalnym niedoborem kompleksu IV |
| cs | Mitochondriální myopatie s reverzibilním deficitem cytochrom C oxidázy | Benigní COX deficit · Mitochondriální myopatie s reverzibilním deficitem COX · Mitochondriální myopatie s reverzibilním deficitem komplexu IV · Dětská myopatie s reverzibilním deficitem cytochrom C oxidázy · Dětský reverzibilní deficit cytochrom C oxidázy · Dětský reverzibilní deficit respiračního řetězce |
| uk | Мітохондріальна міопатія з оборотним дефіцитом цитохрому С оксидази | Доброякісний дефіцит COX · Інфантильна оборотна міопатія з дефіцитом цитохрому С оксидази · Мітохондріальна міопатія з оборотним дефіцитом комплексу IV · Мітохондріальна міопатія з оборотним дефіцитом COX · Зворотний дефіцит оксидази цитохрому С у дітей · Оборотна дитяча дихальна недостатність дихального ланцюга |
| zh | 线粒体肌病伴可逆性细胞色素C氧化酶缺乏症 | 婴儿可逆性细胞色素C氧化酶缺乏性肌病 |
| tr | Tersinir sitokrom C oksidaz eksikliği ile seyreden mitokondriyal miyopati | Selim COX eksikliği · Reversibl infantil solunum zinciri eksikliği · Reversibl infantil sitokrom C oksidaz eksikliği · Reversibl COX eksikliği ile mitokondriyal miyopati · Reversibl kompleks IV eksikliği olan mitokondriyal miyopati · İnfantil geri dönüşümlü sitokrom C oksidaz eksikliği miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 500009 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010780 | E | validated | |
| UMLS | C5191317 | 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 (1):
- ORPHA:254788Mitochondrial DNA-related mitochondrial myopathy
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TE | Disease-causing germline mutation(s) in | Assessed | HGNC:7479 | ENSG00000210194 | 590025 | mitochondria | mitochondrially encoded tRNA-Glu (GAA/G) | 19720722[PMID] |
| TRMU | Disease-causing germline mutation(s) in | Assessed | HGNC:25481 | ENSG00000100416 | 610230 | 22q13.31 | tRNA mitochondrial 2-thiouridylase | 21931168[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
24 annotations · validated 2019-02-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers | |
| HP:0001290 | Generalized hypotonia | |
| HP:0009051 | Increased muscle glycogen content | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0003200 | Ragged-red muscle fibers | |
| Frequent (79-30%) | ||
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0001265 | Hyporeflexia | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0002098 | Respiratory distress | |
| HP:0004900 | Severe lactic acidosis | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0000218 | High palate | |
| HP:0000158 | Macroglossia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002033 | Poor suck | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0005946 | Ventilator dependence with inability to wean | |
| Very rare (<4-1%) | ||
| HP:0002194 | Delayed gross motor development | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 21194154[PMID]_19720722[PMID]_21931168[PMID]_1325759[PMID]_3025776[PMID]_6312869[PMID]_4273245[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254864
- This record as JSON: /data/d/254864.json