ORPHA:254830
Mitochondrial substrate carrier disorder
- 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 substrate carrier disorder | |
| fr | Anomalie des tranporteurs membranaires mitochondriaux | |
| de | Störungen der mitochondrialen Substrat-Transporter | |
| es | Trastorno de los transportadores de la membrana mitocondrial | |
| it | Difetto dei trasportatori della membrana mitocondriale | |
| nl | Stoornis van een mitochondriale substraattransporter | |
| pt | Doença do transportador de substrato mitocondrial | |
| pl | Zaburzenie nośnika substratu mitochondrialnego | |
| cs | Porucha nosiče mitochondriálního substrátu | |
| uk | Порушення мітохондріального субстратного переносника | |
| zh | 线粒体基质载体障碍 | |
| tr | Mitokondriyal substrat taşıyıcı bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C53.30 | E | specific | validated |
| MONDO | 0016801 | E | validated | |
| MONDO | 16801 | E | validated | |
| UMLS | C5680716 | 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:254827Mitochondrial membrane transport disorder
rare inborn errors of metabolism; rare genetic diseases
Children (5):
- ORPHA:255132Adult-onset autosomal recessive sideroblastic anemia
- ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndrome
- ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:353217Epileptic encephalopathy with global cerebral demyelination
- ORPHA:466784Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254830
- This record as JSON: /data/d/254830.json