ORPHA:368
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Synonyms: GSD due to muscle glycogen phosphorylase deficiency · GSD type 5 · GSD type V · Glycogen storage disease type 5 · Glycogen storage disease type V · Glycogenosis due to muscle glycogen phosphorylase deficiency · Glycogenosis type 5 · Glycogenosis type V · McArdle disease · Myophosphorylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of glycogen storage disease (GSD) characterized by exercise intolerance and rhabdomyolysis episodes, due to a deficiency of the muscle isoform of glycogen phosphorylase.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | GSD due to muscle glycogen phosphorylase deficiency · GSD type 5 · GSD type V · Glycogen storage disease type 5 · Glycogen storage disease type V · Glycogenosis due to muscle glycogen phosphorylase deficiency · Glycogenosis type 5 · Glycogenosis type V · McArdle disease · Myophosphorylase deficiency |
| fr | Glycogénose par déficit en glycogène phosphorylase musculaire | Déficit en myophosphorylase · GSD par déficit en glycogène phosphorylase musculaire · GSD type 5 · GSD type V · Glycogénose type 5 · Glycogénose type V · Maladie de McArdle |
| de | Glykogenose Typ 5 | GSD Typ 5 · GSD Typ V · GSD durch Myophosphorylase-Mangel · Glykogen-Speicherkrankheit Typ 5 · Glykogen-Speicherkrankheit Typ V · Glykogen-Speicherkrankheit durch Myophosphorylase-Mangel · Glykogenose Typ V · Glykogenose durch muskulären Glykogen-Phosphorylase-Mangel · McArdle-Krankheit · Myophosphorylase-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno fosforilasa muscular | Deficiencia de miofosforilasa · Enfermedad de McArdle · Enfermedad de almacenamiento de glucógeno tipo 5 · Enfermedad de almacenamiento de glucógeno tipo V · GSD por deficiencia de glucógeno fosforilasa muscular · GSD tipo 5 · GSD tipo V · Glucogenosis por deficiencia de glucógeno fosforilasa muscular · Glucogenosis tipo 5 · Glucogenosis tipo V |
| it | Malattia da deposito di glicogeno da deficit di glicogeno fosforilasi muscolare | Deficit di miofosforilasi · GSD da deficit di glicogeno fosforilasi muscolare · GSD, tipo 5 · Glicogenosi da deficit di glicogeno fosforilasi muscolare · Glicogenosi, tipo 5 · Malattia da deposito di glicogeno, tipo 5 · Malattia di McArdle |
| nl | Glycogeenstapelingsziekte door deficiëntie van glycogeenfosforylase in spier | GSD door deficiëntie van glycogeenfosforylase in spier · GSD type 5 · GSD type V · Glycogeenstapelingsziekte type 5 · Glycogeenstapelingsziekte type V · Glycogenose door deficiëntie van glycogeenfosforylase in spier · Glycogenose type 5 · Glycogenose type V · Myofosforylasedeficiëntie · Ziekte van McArdle |
| pt | Doença de armazenamento de glicogénio devida a deficiência de glicogenofosforilase muscular | Deficiência de miofosforilase · Doença de McArdle · Doença de armazenamento de glicogénio tipo 5 · Glicogenose tipo 5 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem mięśniowej fosforylazy glikogenu | Choroba McArdle'a · Choroba spichrzania glikogenu (GSD) typu 5 · Glikogenoza spowodowana niedoborem mięśniowej fosforylazy glikogenu · Glikogenoza typu 5 · GSD spowodowana niedoborem mięśniowej fosforylazy glikogenu · GSD typu 5 · Niedobór mięśniowej fosforylazy glikogenowej |
| cs | Porucha ukládání glykogenu způsobená deficitem svalové glykogenfosforylázy | GSD typ 5 · GSD V · Glykogenóza, typ 5 · Glykogenóza, typ V · McArdleho nemoc · Deficit myofosforylázy · GSD způsobená deficitem svalové glykogenfosforylázy · Glykogenóza způsobená deficitem svalové glykogenfosforylázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом мязової глікогенфосфорилази | Глікогенова хвороба 5-го типу · Хвороба накопичення глікогену V типу · Глікогеноз внаслідок дефіциту мязової глікогенфосфорилази · Глікогеноз типу 5 · Глікогеноз V типу · GSD внаслідок дефіциту мязової глікогенфосфорилази · GSD тип 5 · GSD тип V · Хвороба МакАрдля · Дефіцит міофосфорилази |
| zh | 肌糖原磷酸化酶缺乏所致糖原贮积病 | 肌糖原磷酸化酶缺乏所致糖原贮积病 |
| tr | Kas glikojen fosforilaz eksikliğine bağlı glikojen depo hastalığı | GSD tip 5 · GSD tip V · McArdle hastalığı · Glikojenoz tip 5 · Glikojenoz tip V · Miyofosforilaz eksikliği · Glikojen depo hastalığı tip 5 · Glikojen depo hastalığı tip V · Kas glikojen fosforilaz eksikliğine bağlı GSD · Kas glikojen fosforilaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232600 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009293 | E | validated | |
| MeSH | D006012 | E | validated | |
| UMLS | C0017924 | E | validated | |
| GARD | 6528 | E | validated | |
| MedDRA | 10018462 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PYGM | Disease-causing germline mutation(s) in | Assessed | HGNC:9726 | ENSG00000068976 | 608455 | 11q13.1 | glycogen phosphorylase, muscle associated |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.035 / 100 000 | Spain | Value and class | Validated | 29143597[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2020-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0030231 | Glycogen accumulation in muscle fiber lysosomes | |
| HP:0030234 | Highly elevated creatine kinase | |
| HP:0009051 | Increased muscle glycogen content | |
| Frequent (79-30%) | ||
| HP:0040319 | Dark urine | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0008305 | Exercise-induced myoglobinuria | |
| HP:0003652 | Recurrent myoglobinuria | |
| HP:0003201 | Rhabdomyolysis | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0008967 | Exercise-induced muscle stiffness | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001324 | Muscle weakness | |
| HP:0030973 | Postexertional malaise | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001649 | Tachycardia | |
| Very rare (<4-1%) | ||
| HP:0012622 | Chronic kidney disease | |
| HP:0002015 | Dysphagia | |
| HP:0005216 | Impaired mastication | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21880526[PMID]_20301518[PMID]_27922496[PMID]_29143597[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/368
- This record as JSON: /data/d/368.json