neonatal constitutional diarrhea
Thursday 25 March 2010
congenital chloride diarrhea (DIAR1, MIM.214700, 7q22-q31.1)
- congenital chloride diarrhea (DIAR1) is caused by mutation in the SLC26A3 gene (MIM.126650) on chromosome 7q31.
microvillus inclusion disease (DIAR2; MIMI.251850)
- microvillus inclusion disease is caused by mutation in the MYO5B gene (MIM.606540) on chromosome 18q21
syndromic form of congenital secretory sodium diarrhea (DIAR3, MIM.270420), caused by mutation in the SPINT2 gene (MIM.605124)
malabsorptive congenital diarrhea (DIAR4; MIM.610370) caused by mutation in the NEUROG3 gene (MIM.604882) on chromosome 10q21.3;
congenital tufting enteropathy (DIAR5; MIM.613217) caused by mutation in the EPCAM (or TACSTD1) gene (MIM.185535).