Disease Index
9,486 diseasesglycine N-methyltransferase deficiency
human disease
glycogen storage disease
glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types
MeSH: D006008
glycogen storage disease due to acid maltase deficiency, infantile onset
glycogen storage disease due to acid maltase deficiency, late-onset
glycogen storage disease due to glucose-6-phosphatase deficiency
glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)
glycogen storage disease due to glucose-6-phosphatase deficiency type IB
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)
MeSH: C562594
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
human disease
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
human disease
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
human disease
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
human disease
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
human disease
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
human disease
glycogen storage disease due to lactate dehydrogenase deficiency
human disease
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
MeSH: C563641
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
MeSH: C538133
glycogen storage disease due to muscle beta-enolase deficiency
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle
MeSH: C567861
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities
MeSH: C567067
glycogen storage disease due to phosphoglycerate mutase deficiency
human disease
MeSH: C536176
glycogen storage disease due to phosphorylase kinase deficiency
glycogen storage disease I
rare disease
MeSH: D005953
glycogen storage disease Ic
human disease
glycogen storage disease II
human disease
MeSH: D006009
glycogen storage disease IXb
Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term).
MeSH: C563008
glycogen storage disease IXd
glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material basis in mutation in the PHKA1 gene on chromosome Xq13
MeSH: C564485
Glycogen storage disease type 0
human disease
MeSH: C566917
glycogen storage disease type 0A
disease
MeSH: C565485
glycogen storage disease type 0B
MeSH: C566917
Glycogen storage disease type XI
Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism
glycogen storage disease V
Human disease
MeSH: D006012