Myopathy due to calsequestrin and SERCA1 protein overload
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 1 |
| OrphanetNr: | 88635 |
| OMIM Id: |
|
| ICD-10: |
G71.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skeletal muscle disease
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of protein SERCA1 -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 192 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|