Polyglucosan body myopathy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyglucosan body myopathy type 2 | |
| fr | Myopathie à corps de polyglucosane type 2 | PGBM2 |
| de | Polyglucosan-Körper-Myopatie Typ 2 | |
| es | Miopatía con cuerpos de poliglucosano tipo 2 | |
| it | Miopatia da corpi di poliglucosano tipo 2 | |
| nl | Myopathie met polyglucosanlichaampjes type 2 | |
| pt | Miopatia de corpos poliglicose, tipo 2 | |
| pl | Miopatia ciałek poliglukozanowych typu 2 | |
| cs | Myopatie s polyglukosanovými tělísky, typ 2 | |
| uk | Поліглюкозанова міопатія тіла, тип 2 | |
| zh | 聚葡聚糖体2型肌病 | |
| tr | Poliglukozan vücut miyopatisi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616199 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0014526 | E | validated | |
| UMLS | C4015452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GYG1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4699 | ENSG00000163754 | 603942 | 3q24 | glycogenin 1 | 25272951[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 25272951[PMID]_26203156[PMID]_26255073[PMID]_26652229[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25272951[PMID]_26203156[PMID]_26255073[PMID]_26652229[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456369
- This record as JSON: /data/d/456369.json