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Diseases

Glycogen Storage Disease Vii

glycogen storage disease vii

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Entity Type
Diseases
Relation Groups
3
Relation Preview
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Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Glycogen Storage Disease Vii
Standard Disease Name
glycogen storage disease vii
MeSH Tree
No data
ICD-10
E74.0

Identifiers

DO ID
No data
MeSH ID
D006014
OMIM ID
232800
UMLS ID
C0017926
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.|MSH2017_2016_08_12:An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.|CSP2006:autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.