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GENATLAS PHENOTYPE

last update : 18-01-2010

Symbol	DIAR5
Location	2p21
Name	diarrhea 5 with tufting enteropathy
Corresponding gene	EPCAM
Main clinical features	rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum onset in the first few months of life with chronic watery diarrhea and failure to thrive, affection requiring parenteral nutrition for normal growth and development
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/gastrointestinal
Type	disease

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