pancreatic triacylglycerol lipase deficiency (Q55784308)
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An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.
- PANCREATIC LIPASE DEFICIENCY
- Pancreatic triglyceride lipase deficiency
- PNLIPD
- Pancreatic Colipase Deficiency
- Lipase and Colipase, Congenital Absence of Pancreatic
- Lipase, Congenital Absence of Pancreatic
- Colipase, Congenital Absence of Pancreatic
- PANCREATIC LIPASE DEFICIENCY; PNLIPD
- Lipase and Colipase, Deficiency of
- Pl Deficiency
Language | Label | Description | Also known as |
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English | pancreatic triacylglycerol lipase deficiency |
An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. |
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Statements
277.89
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C129030
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Identifiers
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