Inflammatory bowel disease
Gene: DOCK11
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
12 patients across 2 studies described. Severe gastrointestinal disease was observed in most of the patients, manifested as ulcerative colitis-like or Crohn's disease-like inflammatory bowel disease, unspecified ileitis, and colitis. Oral and anal ulcerations or ileus affected 6 of the patients.
Sources: LiteratureCreated: 16 Aug 2023, 10:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Inflammatory bowel disease
Publications
Gene: dock11 has been classified as Green List (High Evidence).
Phenotypes for gene: DOCK11 were changed from Inflammatory bowel disease to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Inflammatory bowel disease
Gene: dock11 has been classified as Green List (High Evidence).
gene: DOCK11 was added gene: DOCK11 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DOCK11 were set to PMID: 37342957; PMID: 36952639 Phenotypes for gene: DOCK11 were set to Inflammatory bowel disease