Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema. (Orphanet Rare Disease Ontology, Orphanet_79317)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536655
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) 2.88009