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lethal congenital glycogen storage disease of heart | RareConnect | RareConnect.io

/disorder of glycogen metabolism

/PRKAG2-related cardiomyopathy

/lethal congenital glycogen storage disease of heart

lethal congenital glycogen storage disease of heart

Rare Disease

MONDO:0009867

Also Known As

PRKAG2 glycogen storage diseasefatal congenital hypertrophic cardiomyopathy due to GSDfatal congenital hypertrophic cardiomyopathy due to glycogenosisfatal congenital nonlysosomal cardiac glycogenosisglycogen storage disease caused by mutation in PRKAG2phosphorylase kinase deficiency of heartfatal congenital hypertrophic cardiomyopathy due to glycogen storage diseaseglycogen storage disease of heartglycogen storage disease of heart, lethal congenital

Definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:261740 ↗

Orphanet

Orphanet:439854 ↗

GARD

Related Diseases

glycogen storage disease I

MONDO:0002413

Wolff-Parkinson-White syndrome

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glycogen storage disease due to GLUT2 deficiency

MONDO:0009216

glycogen storage disease II

MONDO:0009290

glycogen storage disease III

MONDO:0009291

glycogen storage disease due to glycogen branching enzyme deficiency

MONDO:0009292

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