Inflammatory Bowel Disease 28, Autosomal Recessive

Alternative Names

  • IBD28
  • Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
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WHO-ICD-10 version:2010

Diseases of the digestive system

OMIM Number

613148

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q23.3

Description

IBD28 is a form of inflammatory bowel disease that is caused by mutations in the IL10RA gene. Onset of disease is usually within the first year of life, and is manifested in the form of severe enterocolitis, enteric fistula and perianal abscess. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613148.1LebanonFemaleNoYes Enterocolitis; Perianal abscess; Fistu...NM_001558.3:c.421G>AHomozygousAutosomal, RecessiveGlocker et al, 2009
613148.2LebanonUnknownYes Microcytic anemia; Recurrent fever; Incr...NM_001558.4:c.172G>AHeterozygousAutosomal, DominantJalkh et al. 2019
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