Diarrhea 5, with Tufting Enteropathy, Congenital (DIAR5)

Diarrhea 5, with Tufting Enteropathy, Congenital(来自ICD-11)
别称:
Congenital Tufting Enteropathy
Congenital Diarrhea 5 with Tufting Enteropathy
Diar5
Cte
Non-Syndromic Congenital Tufting Enteropathy
Intestinal Epithelial Cell Dysplasia
Intestinal Epithelial Dysplasia
Ied
Congenital Familial Intractable Diarrhoea with Epithelial or Epithelium Abnormalities
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities
Diarrhea, Type 5, with Tufting Enteropathy, Congenital
Congenital Diarrhoea 5 with Tufting Enteropathy
Intestinal Intraepithelial Neoplasia
Enteropathy, Congenital Tufting
Tufting Enteropathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diarrhea 5, with Tufting Enteropathy, Congenital, also known as congenital tufting enteropathy, is related to diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies and secretory diarrhea, and has symptoms including infantile diarrhea An important gene associated with Diarrhea 5, with Tufting Enteropathy, Congenital is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways are Adhesion and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). The drugs Fluorouracil and Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include small intestine and brain, and related phenotypes are failure to thrive and malabsorption
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参考文献
MALACARDS
AR
Newborn
1-9/1000000
19
140
13

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