Trypsinogen Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Trypsinogen Deficiency

PRSS1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Trypsinogen Deficiency

Failure to thrive
Edema
Anal atresia
Hypoproteinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Trypsinogen Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Pancreatitis (PRSS1, SPINK1, CTRC). By Center for Human Genetics, Inc (United States). SPINK1, CTRC, PRSS1 Specificity 34 % Genes 100 %
Hereditary Pancreatitis (PRSS1, SPINK1). By Center for Human Genetics, Inc (United States). SPINK1, PRSS1 Specificity 50 % Genes 100 %
Hereditary Pancreatitis (PRSS1, SPINK1, CTRC, CFTR). By Center for Human Genetics, Inc (United States). SPINK1, CFTR, CTRC, PRSS1 Specificity 25 % Genes 100 %
PRSS1-Related Hereditary Pancreatitis. By Center for Human Genetics, Inc (United States). PRSS1 Specificity 100 % Genes 100 %
Pancreatitis: PRSS1 (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). PRSS1 Specificity 100 % Genes 100 %
Pancreatitis: PRSS1 (Known Mutation). By Molecular Diagnostic Laboratory University of Alberta (Canada). PRSS1 Specificity 100 % Genes 100 %
Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). SPINK1, CFTR, PRSS1 Specificity 34 % Genes 100 %
Hereditary Pancreatitis PRSS1. By Genetics Laboratory Shodair Children's Hospital (United States). PRSS1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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