Genetic recurrent myoglobinuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 11 |
| OrphanetNr: | 99845 |
| OMIM Id: |
268200
550500 |
| ICD-10: |
R82.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
-Rare genetic disease Muscular lipidosis -Rare genetic disease -Rare neurologic disease Other metabolic disease -Rare genetic disease |
Symptom Information:
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(HPO:0001919) | Acute kidney injury | 21 / 7739 | ||||
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(HPO:0002913) | Myoglobinuria | 22 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001945) | Fever | 218 / 7739 | ||||
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(HPO:0002153) | Hyperkalemia | 25 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0008942) | Acute rhabdomyolysis | 2 / 7739 | ||||
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(HPO:0003326) | Myalgia | 143 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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