Trypsinogen Deficiency
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 % |
You can get up to 67 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C BLOOD GROUP, CROMER SYSTEM; CROM CHOROIDEREMIA; CHM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X RETINITIS PIGMENTOSA