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PathWhiz ID Pathway Meta Data

PW122104

Pw122104 View Pathway
disease

Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)

Rattus norvegicus
Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxykinase deficiency, or PEP carboxykinase deficiency, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of gluconeogenesis caused by a deficient PEPCK1 enzyme. PEPCK1 catalyzes the conversion of amino acids into sugars, mainly glucose, which is important in preventing hypoglycemia. This disorder is characterized by a large accumulation of lactic acid in the blood. Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective. It is estimated that Phosphoenolpyruvate Carboxykinase Deficiency 1 has only affected 10 individuals around the world according to medical literature.

PW000536

Pw000536 View Pathway
disease

Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)

Homo sapiens
Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxykinase deficiency, or PEP carboxykinase deficiency, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of gluconeogenesis caused by a deficient PEPCK1 enzyme. PEPCK1 catalyzes the conversion of amino acids into sugars, mainly glucose, which is important in preventing hypoglycemia. This disorder is characterized by a large accumulation of lactic acid in the blood. Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective. It is estimated that Phosphoenolpyruvate Carboxykinase Deficiency 1 has only affected 10 individuals around the world according to medical literature.

PW121880

Pw121880 View Pathway
disease

Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)

Mus musculus
Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxykinase deficiency, or PEP carboxykinase deficiency, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of gluconeogenesis caused by a deficient PEPCK1 enzyme. PEPCK1 catalyzes the conversion of amino acids into sugars, mainly glucose, which is important in preventing hypoglycemia. This disorder is characterized by a large accumulation of lactic acid in the blood. Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective. It is estimated that Phosphoenolpyruvate Carboxykinase Deficiency 1 has only affected 10 individuals around the world according to medical literature.

PW127358

Pw127358 View Pathway
disease

Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)

Homo sapiens
Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxykinase deficiency, or PEP carboxykinase deficiency, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of gluconeogenesis caused by a deficient PEPCK1 enzyme. PEPCK1 catalyzes the conversion of amino acids into sugars, mainly glucose, which is important in preventing hypoglycemia. This disorder is characterized by a large accumulation of lactic acid in the blood. Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective. It is estimated that Phosphoenolpyruvate Carboxykinase Deficiency 1 has only affected 10 individuals around the world according to medical literature.

PW064768

Pw064768 View Pathway
signaling

Phospholipase C Signaling Pathway

Homo sapiens
Calcium signaling is a process whereby the extremely low cytoplasmic Ca2+ concentration increases in a deliberate and specific manner to trigger downstream cellular events. Phospholipase C can produce (or modulate), directly, three distinct signals: inositol 1,4,5-trisphosphate (IP3), diacylglycerol, and phosphatidylinositol 4,5-bisphosphate (PIP2).

PW101508

Pw101508 View Pathway
signaling

Phospholipase C Signaling Pathway

Bos taurus
Phospholipase C pathways is one of the major intracellular signalling pathways regulating hormones. It functions to activate inositol lipid signalling pathways causing the hydrolysis of PIP2 by PLC to IP3 and diacylglycerol to activate protein kinase C. IP3 releases calcium from the endoplasmic reticulum. PIP3 is an important regulator of AKT signaling and downstream pathways.

PW101523

Pw101523 View Pathway
signaling

Phospholipase C Signaling Pathway

Rattus norvegicus
Phospholipase C pathways is one of the major intracellular signalling pathways regulating hormones. It functions to activate inositol lipid signalling pathways causing the hydrolysis of PIP2 by PLC to IP3 and diacylglycerol to activate protein kinase C. IP3 releases calcium from the endoplasmic reticulum. PIP3 is an important regulator of AKT signaling and downstream pathways.

PW101493

Pw101493 View Pathway
signaling

Phospholipase C Signaling Pathway

Mus musculus
Phospholipase C pathways is one of the major intracellular signalling pathways regulating hormones. It functions to activate inositol lipid signalling pathways causing the hydrolysis of PIP2 by PLC to IP3 and diacylglycerol to activate protein kinase C. IP3 releases calcium from the endoplasmic reticulum. PIP3 is an important regulator of AKT signaling and downstream pathways.

PW064775

Pw064775 View Pathway
protein

Phospholipase C Signaling Pathway

Homo sapiens
Phospholipase C pathways is one of the major intracellular signalling pathways regulating hormones. It functions to activate inositol lipid signalling pathways causing the hydrolysis of PIP2 by PLC to IP3 and diacylglycerol to activate protein kinase C. IP3 releases calcium from the endoplasmic reticulum. PIP3 is an important regulator of AKT signaling and downstream pathways.

PW109204

Pw109204 View Pathway
protein

Phospholipase C Signaling Pathway

Mus musculus
Phospholipase C pathways is one of the major intracellular signalling pathways regulating hormones. It functions to activate inositol lipid signalling pathways causing the hydrolysis of PIP2 by PLC to IP3 and diacylglycerol to activate protein kinase C. IP3 releases calcium from the endoplasmic reticulum. PIP3 is an important regulator of AKT signaling and downstream pathways.