Glycogen Storage Disease Ixb (GSD9B)

Alias:

Gsd9b

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency

Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type Ixb

Glycogen Storage Disease Type 9b

Glycogenosis Type Ixb

Glycogenosis Type 9b

Gsd Type Ixb

Gsd Type 9b

Gsd Ixb

Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency

Glycogenosis of Liver and Muscle, Autosomal Recessive

Phosphorylase Kinase Deficiency of Liver and Muscle

Storage Disease, Glycogen, Type Ixb

Glycogen Storage Disease 9b

Gsd-Ixb

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Ixb, also known as gsd9b, is related to glycogen storage disease ixd and phosphorylase kinase deficiency, and has symptoms including diarrhea An important gene associated with Glycogen Storage Disease Ixb is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include liver and skeletal muscle, and related phenotypes are hepatomegaly and hypertriglyceridemia

Related ID：

MALACARDS：GLY097

OMIM：261750

MESH：C563008