Mitochondrial myopathy and sideroblastic anemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MLASA MSA Myopathy, lactic acidosis and sideroblastic anemia |
| Number of Symptoms | 0 |
| OrphanetNr: | 2598 |
| OMIM Id: |
600462
613561 |
| ICD-10: |
G71.3 |
| UMLs: |
C1838103 |
| MeSH: |
C536101 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
[Orphanet] |
| Age of onset: |
Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional sideroblastic anemia
-Rare genetic disease -Rare hematologic disease Mitochondrial disorder due to a defect in mitochondrial protein synthesis -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Mitochondrial myopathy -Rare genetic disease -Rare neurologic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|