Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

General Information (adopted from Orphanet):

Synonyms, Signs: Fatal congenital hypertrophic cardiomyopathy due to GSD
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
Number of Symptoms 12
OrphanetNr: 439854
OMIM Id: 261740
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000158) Macroglossia rare [HPO:skoehler] 10368461 IBIS 119 / 7739
2
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
3
 (HPO:0001541) Ascites 94 / 7739
4
 (HPO:0000961) Cyanosis 3918928 IBIS 60 / 7739
5
 (HPO:0002615) Hypotension 52 / 7739
6
 (HPO:0001640) Cardiomegaly 8236826 IBIS 81 / 7739
7
 (HPO:0001635) Congestive heart failure 3918928 IBIS 232 / 7739
8
 (HPO:0200128) Biventricular hypertrophy 10368461 IBIS 11 / 7739
9
 (HPO:0005165) Shortened PR interval 10368461 IBIS 9 / 7739
10
 (HPO:0100598) Pulmonary edema 17 / 7739
11
 (HPO:0001998) Neonatal hypoglycemia 3918928 IBIS 22 / 7739
12
 (OMIM) Phosphorylase kinase deficiency in heart muscle only 3918928 IBIS 2 / 7739

Associated genes:

PRKAG2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: