ORPHA:99845
Genetic recurrent myoglobinuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic recurrent myoglobinuria | |
| fr | Myoglobinurie récurrente génétique | |
| de | Myoglobinurie, rekurrente, genetisch bedingte | |
| es | Mioglobinuria recurrente genética | |
| it | Mioglobinuria ricorrente | |
| nl | Genetische recidiverende myoglobinurie | |
| pt | Mioglobinúria recorrente | |
| pl | Genetyczna nawracająca mioglobinuria | |
| cs | Geneticky podmíněná rekurentní myoglobinurie | |
| uk | Генетично обумовлена рецидивуюча міоглобінурія | |
| zh | 遗传性复发肌红蛋白尿 | |
| tr | Genetik tekrarlayan miyoglobinüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268200 | BTNT | validated | |
| OMIM | 550500 | BTNT | validated | |
| ICD-10 | R82.1 | NTBT | attributed | validated |
| ICD-11 | 5C5Y | NTBT | index | validated |
| MONDO | 0020504 | E | validated | |
| UMLS | C4274324 | 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 (3):
- ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LPIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13345 | ENSG00000134324 | 605518 | 2p25.1 | lipin 1 | |
| MT-CO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7419 | ENSG00000198804 | 516030 | mitochondria | mitochondrially encoded cytochrome c oxidase I | |
| MT-CO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7422 | ENSG00000198938 | 516050 | mitochondria | mitochondrially encoded cytochrome c oxidase III | |
| OBSCN | Disease-causing germline mutation(s) in | Assessed | HGNC:15719 | ENSG00000154358 | 608616 | 1q42.13 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | 34957489[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
32 annotations · validated 2021-10-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003652 | Recurrent myoglobinuria | |
| Very frequent (99-80%) | ||
| HP:0040319 | Dark urine | |
| HP:0001945 | Fever | |
| HP:0030234 | Highly elevated creatine kinase | |
| HP:0001324 | Muscle weakness | |
| Frequent (79-30%) | ||
| HP:0010969 | Abnormality of glycolipid metabolism | |
| HP:0012544 | Elevated circulating aldolase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0008305 | Exercise-induced myoglobinuria | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0100614 | Myositis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000083 | Renal insufficiency | |
| HP:0003554 | Type 2 muscle fiber atrophy | |
| HP:0003558 | Viral infection-induced rhabdomyolysis | |
| Occasional (29-5%) | ||
| HP:0045037 | Abnormality of jaw muscles | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001919 | Acute kidney injury | |
| HP:0011675 | Arrhythmia | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0001288 | Gait disturbance | |
| HP:0002153 | Hyperkalemia | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0005216 | Impaired mastication | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0000467 | Neck muscle weakness | |
| HP:0100520 | Oliguria | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| Very rare (<4-1%) | ||
| HP:0005521 | Disseminated intravascular coagulation | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 26909335[PMID]_32129275[PMID]_24946698[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99845
- This record as JSON: /data/d/99845.json