ORPHA:314637
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Synonyms: COXPD10 · Combined oxidative phosphorylation defect type 10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | COXPD10 · Combined oxidative phosphorylation defect type 10 |
| fr | Cardiomyopathie hypertrophique mitochondriale avec acidose lactique par déficit en MTO1 | COXPD10 · Déficit combiné de la phosphorylation oxydative type 10 |
| de | Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel | COXPD10 · Kombinierten Defekt der oxidativen Phosphorylierung Typ 10 · OXPHOS-Defekt, kombinierter, Typ 10 |
| es | Miocardiopatía hipertrófica mitocondrial con acidosis láctica por deficiencia de MTO1 | COXPD10 · Deficiencia combinada de la fosforilación oxidativa tipo 10 |
| it | Cardiomiopatia ipertrofica mitocondriale con acidosi lattica da deficit di MTO1 | COXPD10 · Difetto combinato della fosforilazione ossidativa, tipo 10 |
| nl | Mitochondriale hypertrofische cardiomyopathie met lactaatacidose door MTO1-deficiëntie | COXPD10 · Gecombineerde oxidatieve fosforylatiedeficiëntie type 10 |
| pt | Miocardiopatía hipertrófica mitocondrial com acidose láctica por défice de MTO1 | COXPD10 · Defeito OXPHOS combinado tipo 10 · Defeito combinado da fosforilação oxidativa tipo 10 · Deficiência de OXPHOS combinado tipo 10 |
| pl | Mitochondrialna kardiomiopatia przerostowa z kwasicą mleczanową spowodowana niedoborem MTO1 | COXPD10 · Złożony defekt fosforylacji oksydacyjnej typu 10 |
| cs | Mitochondriální hypertrofická kardiomyopatie s laktátovou acidózou, způsobená deficitem MTO1 | COXPD10 · Kombinovaná porucha oxidativní fosforylace, typ 10 |
| uk | Мітохондріальна гіпертрофічна кардіоміопатія з молочнокислим ацидозом, зумовлена дефіцитом MTO1 | Комбінований дефект окисного фосфорилювання, тип 10 · COXPD10 |
| zh | 线粒体肥大型心肌病伴MTO1基因缺陷所致乳酸酸中毒 | 联合氧化磷酸化缺陷10型 |
| tr | MTO1 eksikliğine bağlı laktik asidoz ile seyreden mitokondriyal hipertrofik kardiyomiyopati | COXPD10 · Kombine oksidatif fosforilasyon defekti tip 10 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614702 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0013865 | E | validated | |
| UMLS | C4749921 | 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 (2):
- ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19261 | ENSG00000135297 | 614667 | 6q13 | mitochondrial tRNA translation optimization 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23929671[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
18 annotations · validated 2026-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003128 | Lactic acidosis | |
| Frequent (79-30%) | ||
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0001298 | Encephalopathy | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001943 | Hypoglycemia | |
| HP:0002919 | Ketonuria | |
| HP:0002465 | Poor speech | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 34990597[PMID]_29331171[PMID]_23929671[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314637
- This record as JSON: /data/d/314637.json