Embryonal rhabdomyosarcoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RHABDOMYOSARCOMA 1 RHABDOMYOSARCOMA CHROMOSOMAL REGION RMSE1 RMS1 RMSCR |
| Number of Symptoms | 1 |
| OrphanetNr: | 99757 |
| OMIM Id: |
268210
|
| ICD-10: |
C49 |
| UMLs: |
C0206656 |
| MeSH: |
D018233 |
| MedDRA: |
10065868 |
| Snomed: |
14269005 404051002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rhabdomyosarcoma
-Rare neurologic disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0006743) | Embryonal rhabdomyosarcoma | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
In a rhabdomyosarcoma cell line, Schwienbacher et al. (1998) found a G-to-A transition at nucleotide 688 that introduced an arginine in place of a cysteine in the product of the BWR1A gene (SLC22A18; 602631.0002). The change was present ... |