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Term:
Phosphoenolpyruvate Carboxykinase Deficiency (DOID:9003263)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
Budd-Chiari syndrome +   
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Infantile  
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
clonorchiasis  
COACH syndrome  
congenital disorder of glycosylation +   
congenital lactase deficiency  
congenital sucrase-isomaltase deficiency  
Cyanosis and Hepatic Disease 
cystic echinococcosis  
D-glyceric aciduria  
fatty liver disease +   
Focal Nodular Hyperplasia 
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycogen metabolism disorder +   
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
glycoproteinosis +   
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hyperinsulinemic hypoglycemia +   
Hyperproglucagonemia 
INTERSTITIAL LUNG AND LIVER DISEASE  
intestinal disaccharidase deficiency 
intrahepatic cholestasis +   
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
Mannosidase Deficiency Diseases +   
mitochondrial DNA depletion syndrome 6  
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
NGLY1-deficiency  
Ogden syndrome  
opisthorchiasis  
paragonimiasis 
Parasitic Liver Diseases +   
peliosis hepatis  
pentosuria  
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
polycystic echinococcosis 
polycystic liver disease +   
portal hypertension +   
primary hyperoxaluria +   
Pseudo-TORCH Syndrome 2  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
Ribose 5-Phosphate Isomerase Deficiency  
Storage of Unusual Polysaccharide 
toxocariasis +   
Transaldolase Deficiency  
Trehalase Deficiency  
Trichohepatoneurodevelopmental Syndrome  
triosephosphate isomerase deficiency  
tyrosinemia type II  
visceral leishmaniasis  
Wilson disease +   
Xylosidase Deficiency 
Zellweger syndrome +   

Synonyms
Exact Synonyms: PCK1 DEFICIENCY, CYTOSOLIC ;   PEPCK DEFICIENCY, CYTOSOLIC ;   PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY ;   Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ;   Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency ;   Phosphoenolpyruvate carboxylase deficiency ;   Phosphopyruvate carboxylase deficiency
Primary IDs: MESH:C536654 ;   RDO:0002295
Alternate IDs: OMIM:261680

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.