ORPHA:206953
Muscular lipidosis
Synonyms: Lipid storage myopathy
- 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 | Muscular lipidosis | Lipid storage myopathy |
| fr | Lipidose musculaire | Myopathie avec anomalie du métabolisme des lipides · Myopathie avec surcharge en lipide |
| de | Lipidose, muskuläre | Lipidspeichermyopathie |
| es | Lipidosis muscular | Miopatía por depósito de lípidos |
| it | Lipidosi muscolare | Miopatia da accumulo di lipidi |
| nl | Musculaire lipidose | Myopathie door lipidenstapeling |
| pt | Lipidose muscular | |
| pl | Tłuszczakowatość mięśniowa | Miopatia spichrzania tłuszczy |
| cs | Svalová lipidóza | Myopatie se střádáním lipidů |
| uk | Мязовий ліпідоз | Міопатія накопичення ліпідів |
| zh | 肌脂肪沉积 | 脂肪贮积肌病 |
| tr | Kas yağlanması | Lipid depolama miyopatisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16117 | E | validated | |
| MeSH | C562935 | E | validated | |
| UMLS | C0410214 | 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:98486Metabolic myopathy
rare genetic diseases; rare neurological diseases
Children (9):
- ORPHA:99846Autosomal dominant myoglobinuria
- ORPHA:157Carnitine palmitoyltransferase II deficiency
- ORPHA:99845Genetic recurrent myoglobinuria
- ORPHA:26791Multiple acyl-CoA dehydrogenase deficiency
- ORPHA:2596Myopathy and diabetes mellitus
- ORPHA:165Neutral lipid storage disease
- ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:158Systemic primary carnitine deficiency
- ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency
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/206953
- This record as JSON: /data/d/206953.json