Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Synonyms: GSD due to muscle and heart glycogen synthase deficiency · GSD type 0b · Glycogen storage disease type 0b · Glycogenosis due to muscle and heart glycogen synthase deficiency · Glycogenosis type 0b
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | GSD due to muscle and heart glycogen synthase deficiency · GSD type 0b · Glycogen storage disease type 0b · Glycogenosis due to muscle and heart glycogen synthase deficiency · Glycogenosis type 0b |
| fr | Glycogénose par déficit en glycogène synthase cardiaque et musculaire | GSD par déficit en glycogène synthase cardiaque et musculaire · GSD type 0b · Glycogénose type 0b |
| de | Glykogenose durch Muskel- und Herzglykogensynthase-Mangel | GSD Typ 0b · Glykogen-Speicherkrankheit Typ 0b · Glykogen-Speicherkrankheit durch muskulären Glykogensythasemangel · Glykogenose Typ 0b |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa en músculo y corazón | Enfermedad de almacenamiento de glucógeno tipo 0b · GSD por deficiencia de glucógeno sintasa en músculo y corazón · GSD tipo 0b · Glucogenosis por deficiencia de glucógeno sintasa en músculo y corazón · Glucogenosis tipo 0b |
| it | Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi cardiaca e muscolare | GSD da deficit di glicogeno sintasi muscolare e cardiaca · GSD, tipo 0b · Glicogenosi da deficit di glicogeno sintasi muscolare e cardiaca · Glicogenosi, tipo 0b · Malattia da deposito di glicogeno, tipo 0b |
| nl | Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase in spier en hart | GSD door deficiëntie van glycogeensynthase in spier en hart · GSD type 0b · Glycogeenstapelingsziekte type 0b · Glycogenose door deficiëntie van glycogeensynthase in spier en hart · Glycogenose type 0b |
| pt | Doença de armazenamento de glicogénio por deficiência de glicogénio sintetase muscular e cardíaca | Glicogenose por deficiência de glicogénio sintetase muscular e cardíaca · Glicogenose tipo 0b |
| pl | Choroba spichrzania glikogenu z powodu niedoboru mięśniowej i sercowej syntazy glikogenu | Choroba spichrzania glikogenu typu 0b · Glikogenoza typu 0b · Glikogenoza z powodu niedoboru mięśniowej i sercowej syntazy glikogenu · GSD typu 0b · GSD z powodu niedoboru mięśniowej i sercowej syntazy glikogenu |
| cs | Glykogenóza způsobená deficitem svalové a srdeční glykogensyntázy | GSD typ 0b · Glykogenóta, typ 0b · Glykogenóza, typ 0b · GSD způsobená deficitem svalové a srdeční glykogensyntázy |
| uk | Хвороба накопичення глікогену через дефіцит глікогенсинтази в мязах і серці | Глікогенова хвороба, тип 0b · Глікогеноз внаслідок дефіциту глікогенсинтетази в мязах і серці · Глікогеноз типу 0b · ГСД внаслідок дефіциту глікогенсинтетази в мязах і серці · GSD типу 0b |
| zh | 肌肉和心脏糖原合酶缺乏所致糖原贮积病 | 肌糖原和心脏糖原合成酶缺陷所致糖原贮积症 |
| tr | Kas ve kalp glikojen sentaz eksikliğine bağlı glikojen depo hastalığı | GSD türü 0b · Glikojenoz tipi 0b · Glikojen depo hastalığı tipi 0b · Kas ve kalp glikojen sentaz eksikliğine bağlı GSD · Kas ve kalp glikojen sentaz eksikliğine bağlı glikojenoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611556 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0012693 | E | validated | |
| UMLS | C4510752 | E | validated | |
| GARD | 10760 | 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 (2):
- ORPHA:308520Glycogen storage disease due to glycogen synthase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217572Glycogen storage disease with hypertrophic 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 |
|---|---|---|---|---|---|---|---|---|
| GYS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4706 | ENSG00000104812 | 138570 | 19q13.33 | glycogen synthase 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17928598[PMID]_19699667[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17928598[PMID]_19699667[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
11 annotations · validated 2025-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002875 | Exertional dyspnea | |
| HP:0003326 | Myalgia | |
| Frequent (79-30%) | ||
| HP:0012270 | Decreased muscle glycogen content | |
| HP:0003546 | Exercise intolerance | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003756 | Skeletal myopathy | |
| HP:0001279 | Syncope | |
| Occasional (29-5%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001250 | Seizure | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 40536305[PMID]_21958591[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137625
- This record as JSON: /data/d/137625.json