[DEL] GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: GLYCOGEN STORAGE DISEASE OF HEART
PHOSPHORYLASE KINASE DEFICIENCY OF HEART
Number of Symptoms 0
OrphanetNr:
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 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mizuta et al. (1984) and Eishi et al. (1985) described a seemingly unique case of glycogenosis, apparently confined to the heart, with deficient activity of cardiac phosphorylase kinase. The patient, a Japanese male, was found in the neonatal ...
Molecular genetics OMIM In 3 of 5 patients with fatal congenital nonlysosomal cardiac glycogenosis, Burwinkel et al. (2005) identified heterozygosity for an R531Q mutation in the PRKAG2 gene (602743.0007). Burwinkel et al. (2005) noted that this severe phenotype characterized by fetal ...