Polyglucosan body myopathy type 1
Synonyms: PGBM1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyglucosan body myopathy type 1 | PGBM1 |
| fr | Myopathie à corps de polyglucosane type 1 | = en |
| de | Polyglucosan-Körper-Myopathie Typ 1 | = en |
| es | Miopatía por cuerpos de poliglucosano tipo 1 | = en |
| it | Miopatia da corpi di poliglucosano, tipo 1 | = en |
| nl | Myopathie met polyglucosanlichaampjes type 1 | = en |
| pt | Miopatia de corpos poliglicose | |
| pl | Miopatia z ciałkami poliglukozanowymi typu 1 | = en |
| cs | Myopatie s polyglukanovými tělísky, typ 1 | = en |
| uk | Міопатія з поліглюкозановими тільцями, тип 1 | = en |
| zh | 葡聚糖体肌病1型 | = en |
| tr | Poliglukozan vücut miyopatisi tip 1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615895 | NTBT | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0014389 | E | validated | |
| UMLS | C4014605 | 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 (4):
- 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 - ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBCK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15864 | ENSG00000125826 | 610924 | 20p13 | RANBP2-type and C3HC4-type zinc finger containing 1 | 23798481[PMID]_23674175[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 23798481[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23798481[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/397937
- This record as JSON: /data/d/397937.json