Pancreatic Lipase Deficiency; Pnlipd

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).

Genes related to Pancreatic Lipase Deficiency; Pnlipd

PNLIP

Clinical Features

Top most frequent phenotypes and symptoms related to Pancreatic Lipase Deficiency; Pnlipd

Anemia
Diarrhea
Respiratory tract infection
Malabsorption
Abdominal distention
Asthma
Cholelithiasis
Steatorrhea
Exocrine pancreatic insufficiency
Celiac disease

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Pancreatic Lipase Deficiency; Pnlipd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PNLIP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PNLIP Specificity 100 % Genes 100 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553462 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 5 % Genes 100 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553495 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 5 % Genes 100 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...) View the complete list with 1 more genes Panel GTR000553500 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 Specificity 5 % Genes 100 %
Pancreatic lipase deficiency (sequence analysis of PNLIP gene). By CGC Genetics in Portugal. PNLIP Specificity 100 % Genes 100 %
Pancreatic lipase deficiency (sequence analysis of PNLIP gene). By CGC Genetics in Portugal. PNLIP Specificity 100 % Genes 100 %
PNLIP. By Fulgent Genetics Fulgent Genetics in United States. PNLIP Specificity 100 % Genes 100 %
Pancreatic lipase deficiency. By Bioarray in Spain. PNLIP Specificity 100 % Genes 100 %
Colipase Pancreatic Deficiency, Sequencing PNLIP Gene. By Reference Laboratory Genetics in Spain. PNLIP Specificity 100 % Genes 100 %

Alternate names

Pancreatic Lipase Deficiency; Pnlipd Is also known as lipase, congenital absence of pancreatic, pl deficiency;pancreatic triglyceride lipase deficiency.

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