ORPHA:206959
Muscular glycogenosis
Synonyms: Glycogen storage myopathy
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscular glycogenosis | Glycogen storage myopathy |
| fr | Glycogénose musculaire | Myopathie avec anomalie du métabolisme du glycogène · Myopathie avec surcharge en glycogène |
| de | Glykogenose, muskuläre | Glykogenspeicher-Myopathie |
| es | Glucogenosis muscular | Miopatía por almacenamiento de glucógeno |
| it | Glicogenosi muscolare | Miopatia da accumulo di glicogeno |
| nl | Musculaire glycogenose | Myopathie door glycogeenstapeling |
| pt | Glicogenose muscular | |
| pl | Glikogenoza mięśniowa | Miopatia spichrzania glikogenu |
| cs | Svalová glykogenóza | Myopatie se střádáním glykogenu |
| uk | Мязовий глікогеноз | Міопатія накопичення глікогену |
| zh | 肌糖原病 | 糖原贮积肌病 |
| tr | Kas glikojenozu | Glikojen depolama miyopatisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16118 | E | validated | |
| UMLS | C5679786 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98486Metabolic myopathy
rare genetic diseases; rare neurological diseases
Children (15):
- ORPHA:34587Danon disease
- ORPHA:365Glycogen storage disease due to acid maltase deficiency
- ORPHA:367Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:99849Glycogen storage disease due to muscle beta-enolase deficiency
- ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- ORPHA:371Glycogen storage disease due to muscle phosphofructokinase deficiency
- ORPHA:715Glycogen storage disease due to muscle phosphorylase kinase deficiency
- ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:97234Glycogen storage disease due to phosphoglycerate mutase deficiency
- ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- ORPHA:397937Polyglucosan body myopathy type 1
- ORPHA:456369Polyglucosan body myopathy type 2
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206959
- This record as JSON: /data/d/206959.json