Diarrhea 5, with Tufting Enteropathy, Congenital

Alternative Names

  • DIAR5
  • Enteropathy, Congenital Tufting
  • CTE
  • Intestinal Epithelial Cell Dysplasia
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WHO-ICD-10 version:2010

Certain conditions originating in the perinatal period

Digestive system disorders of fetus and newborn

OMIM Number

613217

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p21

Description

Intestinal Epithelial Cell Dysplasia (IED), also known as Congenital Tufting Enteropathy (CTE), is a rare autosomal recessive disorder characterized by early-onset severe intractable diarrhea that may cause irreversible intestinal failure. The prevalence is still unknown, however, its observed to be higher among Arabs than other populations. IED exhibits clinical and histological heterogeneity. It is also associated with malformations or other epithelial diseases, and is related to abnormal enterocytes development and/or differentiation. Mutations in the EPCAM gene are known to cause IED.

 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613217.1.1PalestineMaleYes Intractable diarrhea; Failure to thriveNM_002354.3:c.579delHomozygousAutosomal, RecessivePathak et al. 2019 Patient is of Bedoui...
613217.1.2PalestineFemaleYes Intractable diarrhea; Failure to thriveNM_002354.3:c.579delHomozygousAutosomal, RecessivePathak et al. 2019 Sister of 613217.1.1
613217.2United Arab EmiratesMaleNoYes Intractable diarrhea; Failure to thrive;...NC_000002.12:g.47584496_47665383delHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
613217.3PalestineFemale Intractable diarrhea; Failure to thriveNM_002354.3:c.1A>C, NM_002354.3:c.38_62dupCompound heterozygousAutosomal, RecessivePathak et al. 2019
613217.4IraqMale Intractable diarrhea; Failure to thriveNM_002354.3:c.589C>THomozygousAutosomal, RecessivePathak et al. 2019
613217.5Saudi ArabiaMaleNoYes Intractable diarrhea; Villous atrophyNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; AlMahamed & Hammo. 2017
613217.6Saudi ArabiaFemaleYesYes Intractable diarrhea; Villous atrophyNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; AlMahamed & Hammo. 2017
613217.7Saudi ArabiaMaleNoYes Intractable diarrhea; Villous atrophydel EPCAMHomozygousAutosomal, RecessivePathak et al. 2019; AlMahamed & Hammo. 2017
613217.8Saudi ArabiaMaleYes Intractable diarrhea; Villous atrophyNM_002354.3:c.412C>THomozygousAutosomal, RecessivePathak et al. 2019; AlMahamed & Hammo. 2017
613217.9.1MoroccoMaleYes Intractable diarrheaNM_002354.3:c.352_368delHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.9.2MoroccoMaleYes Intractable diarrheaNM_002354.3:c.352_368delHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Sibling of 613217.9....
613217.10AlgeriaMaleNo Intractable diarrheaNM_002354.3:c.359A>THomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.11AlgeriaFemaleNo Intractable diarrheaNM_002354.3:c.380C>TCompound heterozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Second mutation in t...
613217.12EgyptFemaleNo Intractable diarrheaNM_002354.3:c.394G>THomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.13KuwaitMaleNo Intractable diarrheaNM_002354.3:c.492-2A>GHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.14KuwaitFemaleYes Intractable diarrheaNM_002354.3:c.499dup, NM_002354.3:c.492-2A>GCompound heterozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.15.1KuwaitFemaleYesYes Intractable diarrheaNM_002354.3:c.499dup, NM_002354.3:c.492-2A>GCompound heterozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.15.2KuwaitMaleYesYes Intractable diarrheaNM_002354.3:c.499dup, NM_002354.3:c.492-2A>GCompound heterozygousAutosomal, RecessiveSalomon et al. 2011; Pathak et al. 2019 Relative of 613217.1...
613217.16.1KuwaitMaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.16.2KuwaitFemaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Relative of 613217.1...
613217.17.1KuwaitMaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.17.2KuwaitMaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Relative of 613217.1...
613217.18.1QatarFemaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.18.2QatarMaleYesYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Relative of 613217.1...
613217.19MoroccoFemaleYes Intractable diarrhea; ArthritisNM_002354.3:c.556-14A>GHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.20MoroccoMaleYes Intractable diarrheaNM_002354.3:c.556-14A>GHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.21MoroccoMaleYes Intractable diarrhea; Arthritis; Esophag...NM_002354.3:c.556-14A>GCompound heterozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.22AlgeriaFemaleYes Intractable diarrheadel EPCAMHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014
613217.G.1Saudi ArabiaYesYes Intractable diarrhea; Abdominal distenti...NM_002354.3:c.499dupHomozygousPathak et al. 2019; Al-Mayouf et al. 2009 2 males and 2 famili...
613217.G.2KuwaitYes Intractable diarrheaNM_002354.3:c.499dupHomozygousAutosomal, RecessivePathak et al. 2019; Salomon et al. 2014 Group of three unrel...
613217.G.3AlgeriaFemaleYes Intractable diarrheaNM_002354.3:c.556-14A>GHomozygousAutosomal, RecessiveSalomon et al. 2014 Group of two unrelat...

Other Reports

Kuwait

Salomon et al. (2011) reported seven multiplex consanguineous Kuwaiti and Qatari families affected with Congenital Tufting Enteropathy (CTE).

Qatar

[See: Kuwait > Salomon et al., 2011].

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