PNLIP gene related symptoms and diseases
All the information presented here about the PNLIP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PNLIP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Anemia | Very Common - Between 80% and 100% cases |
| Diarrhea | Very Common - Between 80% and 100% cases |
| Respiratory tract infection | Very Common - Between 80% and 100% cases |
| Malabsorption | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PNLIP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abdominal distention
- Chronic diarrhea
- Cholelithiasis
- Steatorrhea
- Celiac disease
- Exocrine pancreatic insufficiency
- Megaloblastic anemia
- Abnormality of the pancreas
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PNLIP gene
Here you will find a list of rare diseases related to the PNLIP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY
Alternate names
PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY Is also known as lipase, congenital absence of pancreatic, pl deficiency, pancreatic triglyceride lipase deficiency
Description
Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).
Most common symptoms of PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY
- Failure to thrive
- Anemia
- Diarrhea
- Respiratory tract infection
- Malabsorption
More info about PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY
Search interest in PNLIP
Potential gene panels for PNLIP gene
PNLIP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PNLIP gene.
More info about this panel Spain.
Congenital Diarrhea Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Pancreatic lipase deficiency (sequence analysis of PNLIP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PNLIP gene.
More info about this panel Portugal.
Pancreatic lipase deficiency (sequence analysis of PNLIP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PNLIP gene.
More info about this panel Portugal.
PNLIP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PNLIP gene.
More info about this panel United States.
Pancreatic lipase deficiency Panel
Spain.
By Bioarray
This panel specifically test the PNLIP gene.
More info about this panel Spain.
Colipase Pancreatic Deficiency, Sequencing PNLIP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PNLIP gene.
More info about this panel Spain.
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