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GTR Home > Conditions/Phenotypes > Congenital malabsorptive diarrhea 4

Congenital malabsorptive diarrhea 4

Synonyms
ENTERIC ANENDOCRINOSIS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. [from SNOMEDCT_US]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Atoh5, Math4B, NGN-3, bHLHa7, ngn3, NEUROG3
    Summary: neurogenin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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