DIAR
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Classification of congenital diarrheas (see these terms):
DIAR1: congenital secretory chloride diarrhea [MIM 214 700], sometimes called Finnish type: mutation of the SLC26A3 gene (7q22.3-q31.1)
DIAR2: microvillus inclusion disease [MIM 251 850]: mutation of the MYO5B gene (18q21)
DIAR3: syndromic congenital secretory sodium diarrhea [MIM 270 420]: mutation of the SPINT2 gene (19q13)
DIAR4: congenital malabsoptive diarrhea by diminution of enteral endocrine cells [MIM 610 370]: mutationof the NEUROG3 gene (10q21), and decreasing the number of the enteral endocrine cells
DIAR5: epithelial dysplasia (tufting enteropathy) [MIM 613 217]: mutation of the EPCAM gene (2p21)
DIAR6: early onset diarrhea due to hyperactivity of guanylate cyclase 2C: [MIM 614 616]: mutation of the GUCY2C gene (12p12)
DIAR7: congenital diarrhea with exsudative enteropathy [MIM 615 863]: mutation of the DGAT1 gene (8q24)
DIAR8: non syndromic congenital secretory sodium diarrhea [MIM 616 868]: mutation of the SLC9A3 gene (5p15)
DIAR9: [MIM 618 168]: mutation of the WNT2B gene (1p13.2). Osmotic diarrhea with neonatal onset with lipid malabsorption. Histology: abnormal appearance of the crypts and villi
DIAR10: congenital diarrhea protein-losing enteropathy type [MIM 618 183]: mutation of the PLVAP gene (19p13.11). Diarrhea caused by capillary leakage of the low molecular weight proteins. Anasarca, hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia; sometimes: facial dysmorphism (retrognathism, coloboma), cardiac and renal abnormalities (dysplastic kidneys)
DIAR11: congenital malabsorptive diarrhea [MIM 618 662]: deletion of the critical intestinal region gene (16p13.3) that results in the loss of expression of the adjacent PERCC1 gene. It is only observed in a few Jewish families of Iraqi origin.