ORPHA:97234
Glycogen storage disease due to phosphoglycerate mutase deficiency
Synonyms: DiMauro disease · GSD due to phosphoglycerate mutase 2 deficiency · GSD type 10 · Glycogen storage disease due to PGAM2 deficiency · Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · Glycogen storage disease, type 10 · Glycogen storage disease, type X · Glycogenosis due to phosphoglycerate mutase 2 deficiency · Muscle phosphoglycerate mutase deficiency · Myopathy due to phosphoglycerate mutase deficiency · PGAM deficiency · PGAM-M deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare glycogen storage disease characterized by susceptibility to rhabdomyolysis complicated by episodes of exercise-induced muscle pain, cramping, and myoglobinuria. Tubular aggregates may be present on muscle biopsy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to phosphoglycerate mutase deficiency | DiMauro disease · GSD due to phosphoglycerate mutase 2 deficiency · GSD type 10 · Glycogen storage disease due to PGAM2 deficiency · Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · Glycogen storage disease, type 10 · Glycogen storage disease, type X · Glycogenosis due to phosphoglycerate mutase 2 deficiency · Muscle phosphoglycerate mutase deficiency · Myopathy due to phosphoglycerate mutase deficiency · PGAM deficiency · PGAM-M deficiency |
| fr | Glycogénose par déficit en phosphoglycérate mutase | Maladie de DiMauro · Maladie de stockage du glycogène par déficit en PGAM2 · Maladie de stockage du glycogène par déficit en phosphoglycérate mutase 2 · Maladie de stockage du glycogène type 10 · Maladie de stockage du glycogène type X · Myopathie par déficit en phosphoglycérate mutase · Déficit en PGAM · Déficit en PGAM-M · Déficit en phosphoglycérate mutase musculaire · GSD par déficit en phosphoglycérate mutase 2 · GSD type 10 · Glycogénose par déficit en phosphoglycérate mutase 2 |
| de | Glykogenose durch Phosphoglycerat-Mutase-Mangel | Glykogen-Speicherkrankheit Typ 10 · Glykogen-Speicherkrankheit Typ X · Glykogen-Speicherkrankheit durch PGAM2-Defizienz · Glykogen-Speicherkrankheit durch Phosphoglycerat-Mutase-Mangel · Glykogenose durch Phosphoglyceratmutase 2-Mangel · Myopathie durch Phosphoglycerat-Mutase-Mangel · PGAM-M-Defizienz · PGAM-Mangel · Phosphoglycerat-Mutase-Mangel, muskulärer · DiMauro-Krankheit · GSD Typ 10 · GSD durch Phosphoglyceratmutase 2-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa | Deficiencia de PGAM · Deficiencia de PGAM-M · Deficiencia de fosfoglicerato mutasa muscular · Enfermedad de DiMauro · Enfermedad de almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa 2 · Enfermedad de almacenamiento de glucógeno por deficiencia del gen PGAM2 · Enfermedad de almacenamiento de glucógeno tipo 10 · Enfermedad de almacenamiento de glucógeno tipo X · GSD por deficiencia de fosfoglicerato mutasa 2 · GSD tipo 10 · Glucogenosis por deficiencia de fosfoglicerato mutasa 2 · Miopatía por deficiencia de fosfoglicerato mutasa |
| it | Malattia da deposito di glicogeno da deficit di fosfoglicerato mutasi | Deficit di PGAM · Deficit di PGAM-M · Deficit di fosfoglicerato mutasi muscolare · GSD da deficit di fosfoglicerato mutasi 2 · GSD tipo 10 · Glicogenosi da deficit di fosfoglicerato mutasi 2 · Malattia da deposito di glicogeno da deficit di PGAM · Malattia da deposito di glicogeno da deficit di fosfoglicerato mutasi 2 · Malattia da deposito di glicogeno, tipo 10 · Malattia da deposito di glicogeno, tipo X · Malattia di DiMauro · Miopatia da deficit di fosfoglicerato mutasi |
| nl | Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatmutase | Deficiëntie van fosfoglyceraatmutase in spier · GSD door deficiëntie van fosfoglyceraatmutase 2 · GSD type 10 · GSD type X · Glycogeenstapelingsziekte door PGAM2-deficiëntie · Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatmutase 2 · Glycogeenstapelingsziekte type 10 · Glycogeenstapelingsziekte type X · Glycogenose door deficiëntie van fosfoglyceraatmutase 2 · Myopathie door deficiëntie van fosfoglyceraatmutase · PGAM-M-deficiëntie · PGAM-deficiëntie · Ziekte van DiMauro |
| pt | Doença de armazenamento de glicogénio por deficiência de fosfoglicerato mutase | GSD por deficiência de fosfoglicerato mutase 2 · GSD tipo 10 · Glicogenose por deficiência de fosfoglicerato mutase 2 · Miopatia por deficiência de fosfoglicerato mutase · Deficiência PGAM · Deficiência PGAM-M · Deficiência de fosfoglicerato mutase muscular · Doença DiMauro · Doença de armazenamento de glicogénio por deficiência de fosfoglicerato mutase 2 · Doença de armazenamento de glicogénio, tipo 10 · Doença de armazenamento de glicogénio, tipo X |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem mutazy fosfoglicerynianu | Glikogenoza z powodu niedoboru mutazy fosfoglicerynianu · GSD typu 10 · GSD z powodu niedoboru mutazy fosfoglicerynianu · Miopatia z powodu niedoboru mutazy fosfoglicerynianu · Niedobór mięśniowej mutazy fosfoglicerynianu |
| cs | Glykogenóza způsobená deficitem fosfoglycerát mutázy | GSD typ 10 · Deficit svalové fosfoglycerát mutázy · GSD způsobená deficitem fosfoglycerát mutázy · Myopatie způsobená deficitem fosfoglycerát mutázy |
| uk | Хвороба накопичення глікогену через дефіцит фосфогліцератмутази | Хвороба ДіМауро · Хвороба накопичення глікогену через дефіцит PGAM2 · Хвороба накопичення глікогену через дефіцит фосфогліцератмутази 2 · Дефіцит глікогену, тип 10 · Хвороба накопичення глікогену, тип X · Глікогеноз внаслідок дефіциту фосфогліцератмутази 2 · GSD внаслідок дефіциту фосфогліцератмутази 2 · GSD тип 10 · Дефіцит мязової фосфогліцератмутази · Міопатія внаслідок дефіциту фосфогліцератмутази · Дефіцит PGAM · Дефіцит PGAM-M |
| zh | 磷酸甘油酸变位酶缺乏所致肌糖原贮积症 | 磷酸甘油酸变位酶缺乏所致糖原病 |
| tr | Fosfogliserat mutaz eksikliğine bağlı glikojen depo hastalığı | GSD tip 10 · Kas fosfogliserat mutaz eksikliği · Fosfogliserat mutaz eksikliğine bağlı GSD · Fosfogliserat mutaz eksikliğine bağlı miyopati · Fosfogliserat mutaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261670 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009865 | E | validated | |
| UMLS | C0268149 | E | validated | |
| GARD | 9964 | 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 (2):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PGAM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8889 | ENSG00000164708 | 612931 | 7p13 | phosphoglycerate mutase 2 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 34237446[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34237446[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.
6
HPO phenotypes
12 annotations · validated 2026-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:6000197 | Reduced muscle phosphoglycerate mutase activity | |
| Frequent (79-30%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0100301 | Muscle fiber tubular inclusions | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0008942 | Acute rhabdomyolysis | |
| HP:0001324 | Muscle weakness | |
| Excluded (0%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0003457 | EMG abnormality | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 19783439[PMID]_23169535[PMID]_27612597[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97234
- This record as JSON: /data/d/97234.json