Glycogen Storage Disease, Type Ixa1 malady
Categories: Genetic diseases (common), Liver diseases
Aliases & Descriptions for Glycogen Storage Disease, Type Ixa1:
glycogen storage disease, type ixa1:
Inheritance: x-linked recessive inheritance
Global: Genetic diseases (common)
Anatomical: Liver diseases
OMIM:51 Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a... (306000) more...
MalaCards based summary: Glycogen Storage Disease, Type Ixa1, also known as glycogen storage disease ixa1, is related to glycogen storage disease viii and x-linked liver glycogenosis type 2, and has symptoms including motor delay, growth delay and hypoglycemia. An important gene associated with Glycogen Storage Disease, Type Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver.
UniProtKB/Swiss-Prot:69 Glycogen storage disease 9A: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.
Diseases related to Glycogen Storage Disease, Type Ixa1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Glycogen Storage Disease, Type Ixa1:
Human phenotypes related to Glycogen Storage Disease, Type Ixa1:63 (show all 8)
UMLS symptoms related to Glycogen Storage Disease, Type Ixa1:hepatomegaly
MalaCards organs/tissues related to Glycogen Storage Disease, Type Ixa1:35
Search GEO for disease gene expression data for Glycogen Storage Disease, Type Ixa1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet