ORPHA:309136
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | |
| fr | Anomalie mitochondriale par défaut d'assemblage ou de maturation des complexes de la chaîne respiratoire | |
| de | Mitochondriopathie durch Reifungsdefekt/Störung des Zusammenbaus des mitochondrialen Atmungsketten-Komplexes | |
| es | Enfermedad mitocondrial por un defecto de maduración de los complejos de la cadena respiratoria | |
| it | Disturbo mitocondriale da difetto nella maturazione dei complessi della catena respiratoria | |
| nl | Mitochondriale aandoening door defect van samenstelling of maturatie van ademhalingsketencomplexen | |
| pt | Doença mitocondrial devido a um defeito de maturação dos complexos da cadeia respiratória | |
| pl | Zaburzenia mitochondrialne z powodu defektu gromadzenia lub dojrzewania kompleksów łańcucha oddechowego | |
| cs | Mitochondriální porucha způsobená poruchou složení nebo maturace komplexů respiračního řetězce | |
| uk | Мітохондріальний розлад внаслідок дефекту збірки або дозрівання комплексів дихального ланцюга | |
| zh | 呼吸链复合物装配或成熟缺陷所致线粒体病 | |
| tr | Solunum zinciri komplekslerinin birleşmesi veya olgunlaşmasındaki bir defekte bağlı mitokondriyal bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17718 | E | validated | |
| UMLS | C5681078 | 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:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases
Children (10):
- ORPHA:542585Auditory neuropathy-optic atrophy syndrome
- ORPHA:123Björnstad syndrome
- ORPHA:254843Exercise intolerance with lactic acidosis
- ORPHA:53693GRACILE syndrome
- ORPHA:352328MEGDEL syndrome
- ORPHA:289573Multiple mitochondrial dysfunctions syndrome
- ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:254902Renal tubulopathy-encephalopathy-liver failure syndrome
- ORPHA:397593Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
- ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathy
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309136
- This record as JSON: /data/d/309136.json