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IL10-related early-onset inflammatory bowel disease

MedGen UID:
1661450
•Concept ID:
C4749850
•
Disease or Syndrome
Synonyms: Autosomal recessive early-onset inflammatory bowel disease; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
SNOMED CT: IL10-related early-onset inflammatory bowel disease (771333006); Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome (771333006); Interleukin 10 related early-onset inflammatory bowel disease (771333006); IL10 (interleukin 10) related early-onset inflammatory bowel disease (771333006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016542
Orphanet: ORPHA238569

Definition

A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • IL10-related early-onset inflammatory bowel disease

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