Ontology highlight
ABSTRACT:
SUBMITTER: Hirabayashi KE
PROVIDER: S-EPMC5875720 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Hirabayashi Kristin E KE Moore Anthony T AT Mendelsohn Bryce A BA Taft Ryan J RJ Chawla Aditi A Perry Denise D Henry Duncan D Slavotinek Anne A
American journal of medical genetics. Part A 20180401 4
Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndr ...[more]