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congenital secretory sodium diarrhea 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.
Uniprot Description A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes.
Mondo Term and Equivalent IDs
MONDO:0010036:  congenital secretory sodium diarrhea 3