Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Synonyms: Fatal congenital hypertrophic cardiomyopathy due to glycogenosis · Fatal congenital hypertrophic cardiomyopathy due to GSD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Fatal congenital hypertrophic cardiomyopathy due to glycogenosis · Fatal congenital hypertrophic cardiomyopathy due to GSD |
| fr | Cardiomyopathie hypertrophique congénitale létale par maladie de stockage du glycogène | Cardiomyopathie hypertrophique congénitale létale par GSD · Cardiomyopathie hypertrophique congénitale létale par glycogénose |
| de | Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose | Fatale kongenitale hypertrophe Kardiomyopathie durch GSD · Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogen-Speicherkrankheit |
| es | Miocardiopatía hipertrófica fatal congénita por una enfermedad por almacenamiento de glucógeno | Miocardiopatía hipertrófica fetal congénita por GSD · Miocardiopatía hipertrófica fetal congénita por una glucogenosis |
| it | Cardiomiopatia ipertrofica congenita letale dovuta a malattia da deposito di glicogeno | Cardiomiopatia ipertrofica congenita letale da GSD · Cardiomiopatia ipertrofica congenita letale da glicogenosi |
| nl | Fatale congenitale hypertrofische cardiomyopathie door glycogeenstapelingsziekte | Fatale congenitale hypertrofische cardiomyopathie door GSD · Fatale congenitale hypertrofische cardiomyopathie door glycogenose |
| pt | Miocardiopatia hipertrófica congénita por glicogenose, forma fatal | |
| pl | Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana chorobą spichrzania glikogenu | Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana glikogenozą · Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana GSD |
| cs | Fatální vrozená hypertrofická kardiomyopatie způsobená střádáním glykogenu | Fatální vrozená hypertrofická kardiomyopatie způsobená GSD · Fatální vrozená hypertrofická kardiomyopatie způsobená glykogenózou |
| uk | Вроджена гіпертрофічна кардіоміопатія з летальним наслідком через хворобу накопичення глікогену | Фатальна вроджена гіпертрофічна кардіоміопатія внаслідок глікогенозу · Фатальна вроджена гіпертрофічна кардіоміопатія внаслідок GSD |
| zh | 糖原贮积病所致的致命性先天性肥厚型心肌病 | 糖原病导致的致命性先天性肥厚型心肌病 |
| tr | Glikojen depo hastalığına bağlı letal doğumsal hipertrofik kardiyomiyopati | GSD'ye bağlı ölümcül doğumsal hipertrofik kardiyomiyopati · Glikojenoza bağlı ölümcül doğumsal hipertrofik kardiyomiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261740 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0009867 | E | validated | |
| MeSH | C564888 | E | validated | |
| UMLS | C1849813 | E | validated | |
| GARD | 10728 | 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:79201Glycogen storage disease
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 |
|---|---|---|---|---|---|---|---|---|
| PRKAG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9386 | ENSG00000106617 | 602743 | 7q36.1 | protein kinase AMP-activated non-catalytic subunit gamma 2 | 15877279[PMID]_17667862[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 10368461[PMID]_15877279[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10368461[PMID]_15877279[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/439854
- This record as JSON: /data/d/439854.json