Autosomal dominant myoglobinuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant myoglobinuria | |
| fr | Myoglobinurie autosomique dominante | |
| de | Myoglobinurie, autosomal-dominante | |
| es | Mioglobinuria autosómica dominante | |
| it | Mioglobinuria dominante | |
| nl | Autosomaal dominante myoglobinurie | |
| pt | Mioglobinúria autossómica dominante | |
| pl | Autosomalna dominująca mioglobinuria | |
| cs | Autozomálně dominantní myoglobinurie | |
| uk | Аутосомно-домінантна міоглобінурія | |
| zh | 常染色体显性遗传肌红蛋白尿 | |
| tr | Otozomal dominant miyoglobinüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160010 | E | validated | |
| ICD-10 | R82.1 | NTBT | attributed | validated |
| ICD-11 | 5C5Y | NTBT | index | validated |
| MONDO | 0008046 | E | validated | |
| MeSH | C563546 | E | validated | |
| UMLS | C1834567 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 9098484[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9098484[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99846
- This record as JSON: /data/d/99846.json