ORPHA:217572
Glycogen storage disease with hypertrophic cardiomyopathy
Synonyms: GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease with hypertrophic cardiomyopathy | GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy |
| fr | Maladie de stockage du glycogène avec cardiomyopathie hypertrophique | GSD avec cardiomyopathie hypertrophique · Glycogénose avec cardiomyopathie hypertrophique |
| de | Glykogen-Speicherkrankheit mit hypertropher Kardiomyopathie | GSD mit hypertropher Kardiomyopathie · Glykogenose mit hypertropher Kardiomyopathie |
| es | Enfermedad por almacenamiento de glucógeno con miocardiopatía hipertrófica | |
| it | Malattia da accumulo di glicogeno con cardiomiopatia ipertrofica | GSD con cardiomiopatia ipertrofica · Glicogenosi con cardiomiopatia ipertrofica |
| nl | Glycogeenstapelingsziekte met hypertrofische cardiomyopathie | GSD met hypertrofische cardiomyopathie · Glycogenose met hypertrofische cardiomyopathie |
| pt | Doença do armazenamento de glicogénio com miocardiopatia hipertrófica | Glicogenose com miocardiopatia hipertrófica |
| pl | Choroba spichrzania glikogenu z kardiomiopatią przerostową | Glikogenoza z kardiomiopatią przerostową · GSD z kardiomiopatią przerostową |
| cs | Glykogenóza s hypertrofickou kardiomyopatií | GSD s hypertrofickou kardiomyopatií |
| uk | Хвороба накопичення глікогену з гіпертрофічною кардіоміопатією | Глікогеноз при гіпертрофічній кардіоміопатії · GSD з гіпертрофічною кардіоміопатією |
| zh | 糖原贮积病伴肥厚型心肌病 | 糖原贮积症伴肥厚型心肌病 |
| tr | Hipertrofik kardiyomiyopati ile seyreden glikojen depo hastalığı | Hipertrofik kardiyomiyopati ile seyreden GSD · Hipertrofik kardiyomiyopati ile seyreden glikojenoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16325 | E | validated | |
| UMLS | C5397268 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:99739Rare familial disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
Children (5):
- ORPHA:34587Danon disease
- ORPHA:439854Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- ORPHA:365Glycogen storage disease due to acid maltase deficiency
- ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:137625Glycogen storage disease due to muscle and heart glycogen synthase deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217572
- This record as JSON: /data/d/217572.json