Congenital Enteropathy Due To Enteropeptidase Deficiency

Description

Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Enteropathy Due To Enteropeptidase Deficiency

  • Growth delay
  • Failure to thrive
  • Edema
  • Diarrhea
  • Malabsorption
  • Steatorrhea
  • Celiac disease
  • Exocrine pancreatic insufficiency
  • Hypoproteinemia
  • Intestinal lymphangiectasia

And another 2 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Congenital Enteropathy Due To Enteropeptidase Deficiency Is also known as congenital enterokinase deficiency, enteropeptidase deficiency.

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.


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Congenital Enteropathy Due To Enteropeptidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Enterokinase deficiency (sequence analysis of PRSS7 gene).

By CGC Genetics (Portugal).

TMPRSS15
Specificity
100 %
Genes
100 %
Enterokinase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

TMPRSS15
Specificity
100 %
Genes
100 %
TMPRSS15.

By Fulgent Genetics Fulgent Genetics (United States).

TMPRSS15
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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