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congenital diarrhea

Pathology:L - paucity of enteroendocrine cells Genetics: - diarrhea 11, malabsorptive, congenital (DIAR11) due to PERCC1 mutation [2] Clinical manifestations: - severe, life-threatening watery diarrhea associated with generalized malabsorption - onset of intractable diarrhea within the first few weeks of life

Related

protein PERCC1; proline & glutamate-rich protein with a coiled coil domain (PERCC1)

General

diarrhea congenital anomaly (birth defect) genetic disease

Database Correlations

OMIM 618662

References

  1. OMIM :accession 618662
  2. UniProt :accession A0A1W2PR82