PHKG1 gene related symptoms and diseases

All the information presented here about the PHKG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Rare diseases associated to PHKG1 gene

Here you will find a list of rare diseases related to the PHKG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY

Alternate names

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixe, glycogenosis type 9e, glycogen storage disease type ixe, gsd type 9e, gsd due to muscle phosphorylase kinase deficiency, glycogen storage disease type 9d, glycogen storage disease type ixd, glycogen storage disease type 9e, gsd type 9d, glycogenosis

Description

Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.


More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for PHKG1 gene

Glycogen Storage Disease- Muscle Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Muscle that also includes the following genes: RBCK1 AGL ENO3 FBP2 GAA ALDOA GBE1 GYG1 GYS1 LDHA

More info about this panel
United Kingdom.

Rhabdomyolysis Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 CAV3 RBCK1 CPT1B CPT2 ISCU AGL ENO3

More info about this panel
United Kingdom.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FUCA1 EFHC1 HCRT HES7 ALDOB CSTB NEFH