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MCID: GLY093
MIFTS: 19
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Glycogen Storage Disease Ixa
Categories:
Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glycogen Storage Disease Ixa:
Classifications:
MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases Anatomical: Nephrological diseases Liver diseases Neuronal diseases Blood diseases Endocrine diseases Gastrointestinal diseases Muscle diseases Cardiovascular diseases
ICD10:
34
External Ids:
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Disease Ontology
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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 ixa1 and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver. |
Diseases in the Glycogen Storage Disease family:Diseases related to Glycogen Storage Disease Ixa via text searches within MalaCards or GeneCards Suite gene sharing:
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MalaCards organs/tissues related to Glycogen Storage Disease Ixa:42
Liver
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Articles related to Glycogen Storage Disease Ixa:
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Search
GEO
for disease gene expression data for Glycogen Storage Disease Ixa.
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