ORPHA:225700
Mitochondrial disease with epilepsy
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial disease with epilepsy | |
| fr | Maladie mitochondriale avec épilepsie | |
| de | Mitochondriale Krankheit mit Epilepsie | |
| es | Enfermedad mitocondrial con epilepsia | |
| it | Malattia mitocondriale associata a epilessia | |
| nl | Mitochondriale ziekte met epilepsie | |
| pt | Doença mitocondrial com epilepsia | |
| pl | Choroba mitochondrialna z padaczką | |
| cs | Mitochondriální onemocnění s epilepsií | |
| uk | Мітохондріальна хвороба з епілепсією | |
| zh | 线粒体疾病伴癫痫 | |
| tr | Epilepsi ile seyreden mitokondriyal hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16402 | E | validated | |
| UMLS | C5680897 | 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 (1):
- ORPHA:225696Energy metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases
Children (18):
- ORPHA:726Alpers-Huttenlocher syndrome
- ORPHA:35656Coenzyme Q10 deficiency
- ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:353217Epileptic encephalopathy with global cerebral demyelination
- ORPHA:24Fumaric aciduria
- ORPHA:2609Isolated complex I deficiency
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:506Leigh syndrome
- ORPHA:401859Lipoic acid synthetase deficiency
- ORPHA:447795Lipoyl transferase 2 deficiency
- ORPHA:85282MEHMO syndrome
- ORPHA:550MELAS
- ORPHA:551MERRF
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:644NARP syndrome
- ORPHA:31Oxoglutaric aciduria
- ORPHA:765Pyruvate dehydrogenase deficiency
- ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
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/225700
- This record as JSON: /data/d/225700.json