MCID: GLY093
MIFTS: 26
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Glycogen Storage Disease Ixa
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Glycogen Storage Disease Ixa:
Classifications:
MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases Anatomical: Neuronal diseases Liver diseases Nephrological diseases Blood diseases Respiratory diseases Cardiovascular diseases Muscle diseases
ICD10:
32
External Ids:
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Disease Ontology :
12
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material basis in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
MalaCards based summary : Glycogen Storage Disease Ixa, also known as glycogen storage disease type ixa, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Related phenotypes are Decreased viability and Decreased viability |
GenomeRNAi Phenotypes related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:26 (show all 27)
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Articles related to Glycogen Storage Disease Ixa:
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GEO
for disease gene expression data for Glycogen Storage Disease Ixa.
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Pathways related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:
Biological processes related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:
Molecular functions related to Glycogen Storage Disease Ixa according to GeneCards Suite gene sharing:
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