ORPHA:79201
Glycogen storage disease
Synonyms: GSD · Glycogenosis
- Type
- Category
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease | GSD · Glycogenosis |
| fr | Maladie de stockage du glycogène | GSD · Glycogénose |
| de | Glykogenose | GSD · Glykogen-Speicherkrankheit |
| es | Enfermedad por almacenamiento de glucógeno | |
| it | Malattia da deposito di glicogeno | GSD · Glicogenosi |
| nl | Glycogeenstapelingsziekte | GSD · Glycogenose |
| pt | Doença de armazenamento de glicogénio | Glicogenose |
| pl | Choroba spichrzania glikogenu | Glikogenoza · GSD |
| cs | Glykogenózy | GSD |
| uk | Хвороба накопичення глікогену | Глікогеноз · GSD |
| zh | 糖原贮积症 | 糖原病 |
| tr | Glikojen depo hastalığı | GSD · Glikojenoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E74.0 | E | specific | validated |
| ICD-11 | 5C51.3 | E | specific | validated |
| MONDO | 0002412 | E | validated | |
| MONDO | 2412 | E | validated | |
| MeSH | D006008 | E | validated | |
| UMLS | C0017919 | E | validated | |
| MedDRA | 10061990 | 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:79161Disorder of carbohydrate metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (21):
- ORPHA:34587Danon disease
- ORPHA:2088Fanconi-Bickel syndrome
- ORPHA:439854Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- ORPHA:365Glycogen storage disease due to acid maltase deficiency
- ORPHA:57Glycogen storage disease due to aldolase A deficiency
- ORPHA:364Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:367Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:308520Glycogen storage disease due to glycogen synthase deficiency
- ORPHA:2364Glycogen storage disease due to lactate dehydrogenase deficiency
- ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase 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:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:97234Glycogen storage disease due to phosphoglycerate mutase deficiency
- ORPHA:370Glycogen storage disease due to phosphorylase kinase deficiency
- ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- ORPHA:319646PGM1-CDG
- 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.51 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79201
- This record as JSON: /data/d/79201.json