ORPHA:217591
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
- 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 | Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | |
| fr | Anomalie de l'oxydation des acides gras et de la cétogenèse avec cardiomyopathie hypertrophique | |
| de | Fettsäureoxidationsstörung und Ketogenese-Defekt mit hypertropher Kardiomyopathie | |
| es | Trastorno de la cetogénesis y de la oxidación de los ácidos grasos con miocardiopatía hipertrófica | |
| it | Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia ipertrofica | |
| nl | Vetzuuroxidatie- en ketogenesestoornis met hypertrofische cardiomyopathie | |
| pt | Doença da oxidação dos ácidos gordos e cetogénese com miocardiopatia hipertrófica | |
| pl | Zaburzenie oksydacji kwasów tłuszczowych i ketogenezy z kardiomiopatią przerostową | |
| cs | Poruchy oxidace mastných kyselin a ketogeneze s hypertrofickou kardiomyopatií | |
| uk | Порушення окислення жирних кислот та кетогенезу з гіпертрофічною кардіоміопатією | |
| zh | 脂肪酸氧化和生酮障碍伴肥厚型心肌病 | |
| tr | Hipertrofik kardiyomiyopati ile seyreden yağ asidi oksidasyonu ve ketogenez bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16328 | E | validated | |
| UMLS | C5680880 | 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:99739Rare familial disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
Children (6):
- ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency
- ORPHA:159Carnitine-acylcarnitine translocase deficiency
- ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- ORPHA:746Mitochondrial trifunctional protein deficiency
- ORPHA:26791Multiple acyl-CoA dehydrogenase deficiency
- ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/217591
- This record as JSON: /data/d/217591.json