Name: Diarrhea 6 | Acronym: DIAR6
Alt. names:

Gene: GUCY2C | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 614616

Orphanet: -

MONDO: -

DOID: -

ClinGen:

In Diarrhea 6, individuals may present in infancy with relatively severe dehydration, metabolic acidosis, and electrolyte disturbances, and preventive measures and early treatment may be beneficial; Awareness of sequelae that may require surgical interventions (eg, small bowel obstruction) may allow prompt recognition and treatment; Individuals may be at increased risk of urolithiasis, and preventive measures and prompt treatment may be beneficial; In Meconium ileus, individuals may present in infancy with relatively severe dehydration, metabolic acidosis, and electrolyte disturbances, and preventive measures and early treatment may be beneficial. Individuals with Meconium ileus have been described with features of Diarrhea 6 (in terms of chronic diarrhea in infancy). Refs. PMIDs: 4006357; 22436048; 22436048; 22521417

Description of management option has not been reviewed yet.