Disease
GLYCOGEN STORAGE DISEASE XV
[ DI0008093 ]
- Summary
- Glycogen Storage Disease Xv, also known as glycogen storage disease type xv, is related to myopathy and childhood ataxia with central nervous system hypomyelination / vanishing white matter, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Xv is GYG1 (Glycogenin 1), and among its related pathways/superpathways are Starch and sucrose metabolism and Translation Factors. Affiliated tissues include skeletal muscle and heart, and relatedphenotypes are decreased muscle mass and abdominal wall muscle weakness
- Synonym
- GLYCOGENIN DEFICIENCY GSD XV GSD15 GYG1 DEFICIENCY glycogen storage disease XV glycogen storage disease type XV
- Xref
- DO: DOID:0050579 OMIM: 613507
Classification
| PMappKB GV ID | Genomic Location | Alt | ProAlt | Gene symbol | Relation |
|---|