ORPHA:263297
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Synonyms: GSD type 15 · GSD type XV · GSD with severe cardiomyopathy due to glycogenin deficiency · Glycogen storage disease type 15 · Glycogen storage disease type XV · Glycogenosis type 15 · Glycogenosis type XV · Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | GSD type 15 · GSD type XV · GSD with severe cardiomyopathy due to glycogenin deficiency · Glycogen storage disease type 15 · Glycogen storage disease type XV · Glycogenosis type 15 · Glycogenosis type XV · Glycogenosis with severe cardiomyopathy due to glycogenin deficiency |
| fr | Glycogénose avec cardiomyopathie sévère par déficit en glycogénine | GSD avec cardiomyopathie sévère par déficit en glycogénine · GSD type 15 · GSD type XV · Glycogénose type 15 · Glycogénose type XV |
| de | Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel | GSD Typ 15 · GSDXV · Glykogen-Speicherkrankheit Typ 15 · Glykogen-Speicherkrankheit mit schwerer Kardiomyopathie durch Glycogenin-Mangel · Glykogenose Typ 15 |
| es | Enfermedad por almacenamiento de glucógeno con miocardiopatía grave por deficiencia de glucogenina | Enfermedad de almacenamiento de glucógeno tipo 15 · Enfermedad de almacenamiento de glucógeno tipo XV · GSD con miocardiopatía grave por deficiencia de glucogenina · GSD tipo 15 · GSD tipo XV · Glucogenosis con miocardiopatía grave por deficiencia de glucogenina · Glucogenosis tipo 15 · Glucogenosis tipo XV |
| it | Malattia da deposito di glicogeno con cardiomiopatia grave da deficit di glicogenina | GSD con cardiomiopatia grave da deficit di glicogenina · GSD, tipo 15 · GSD, tipo XV · Glicogenesi con cardiomiopatia grave da deficit di glicogenina · Glicogenosi da deficit di glicogenina · Glicogenosi, tipo 15 · Glicogenosi, tipo XV · Malattia da deposito di glicogeno, tipo 15 · Malattia da deposito di glicogeno, tipo XV |
| nl | Glycogeenstapelingsziekte met ernstige cardiomyopathie door deficiëntie van glycogenine | GSD met ernstige cardiomyopathie door deficiëntie van glycogenine · GSD type 15 · GSD type XV · Glycogeenstapelingsziekte type 15 · Glycogeenstapelingsziekte type XV · Glycogenose met ernstige cardiomyopathie door deficiëntie van glycogenine · Glycogenose type 15 · Glycogenose type XV |
| pt | Doença de armazenamento de glicogénio com miocardiopatia por deficiência de glicogenina | Glicogenose tipo 15 |
| pl | Choroba spichrzania glikogenu z powodu niedoboru glikogeniny | Choroba spichrzania glikogenu typu 15 · Choroba spichrzania glikogenu typu XV · Glikogenoza typu 15 · Glikogenoza typu XV · Glikogenoza z powodu niedoboru glikogeniny · GSD typu 15 · GSD typu XV · GSD z powodu niedoboru glikogeniny |
| cs | Glykogenóza s těžkou kardiomyopatií způsobená deficitem glykogeninu | GSD typ 15 · GSD typ XV · Glykogenóza, typ XV · Glykogenóza, typ 15 · GSD s těžkou kardiomyopatií způsobená deficitem glykogeninu |
| uk | Хвороба накопичення глікогену з тяжкою кардіоміопатією через дефіцит глікогеніну | Хвороба накопичення глікогену, тип 15 · Хвороба накопичення глікогену, тип XV · Глікогеноз типу 15 · Глікогеноз типу XV · Глікогеноз з тяжкою кардіоміопатією внаслідок дефіциту глікогеніну · GSD тип 15 · GSD тип XV · GSD з тяжкою кардіоміопатією внаслідок дефіциту глікогеніну |
| zh | 糖原蛋白不足所致糖原贮积症伴严重心肌病 | 糖原累积病伴糖原蛋白不足所致严重心肌病 |
| tr | Glikojen eksikliğine bağlı ağır kardiyomiyopati ile seyreden glikojen depo hastalığı | GSD tip 15 · GSD tip XV · Glikojenoz tip 15 · Glikojenoz tip XV · Glikojen depo hastalığı tip 15 · Glikojen depo hastalığı tip XV · Glikojenin eksikliğine bağlı ağır kardiyomiyopati ile seyreden GSD · Glikojenin eksikliğine bağlı ağır kardiyomiyopati ile seyreden glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613507 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0013291 | E | validated | |
| UMLS | C4303568 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GYG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4699 | ENSG00000163754 | 603942 | 3q24 | glycogenin 1 | 20357282[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 20357282[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20357282[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.
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HPO phenotypes
25 annotations · validated 2017-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0011675 | Arrhythmia | |
| HP:0031319 | Cardiomyocyte hypertrophy | |
| HP:0001638 | Cardiomyopathy | |
| HP:0012270 | Decreased muscle glycogen content | |
| HP:0003199 | Decreased muscle mass | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002875 | Exertional dyspnea | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0040014 | Increased mitochondrial number | |
| HP:0003722 | Neck flexor weakness | |
| HP:0001962 | Palpitations | |
| HP:0011712 | Right bundle branch block | |
| HP:0012251 | ST segment elevation | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0010872 | T-wave inversion | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0001663 | Ventricular fibrillation | |
| HP:0001714 | Ventricular hypertrophy | |
| HP:0005144 | Ventricular septal hypertrophy | |
| HP:0004756 | Ventricular tachycardia | |
| HP:0002321 | Vertigo | |
| Excluded (0%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000821 | Hypothyroidism | |
Annotation source: 20357282[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263297
- This record as JSON: /data/d/263297.json