Traits

Traits linked to DOCK11

dedicator of cytokinesis 11

The Human Phenotype Ontology links 45 traits to DOCK11, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Rheumatoid factor positive	Often (30–79%)
Acute respiratory distress syndrome	Sometimes (5–29%)
Anti-integrin antibody positivity	Sometimes (5–29%)
Anti-smooth muscle antibody positivity	Sometimes (5–29%)
Anti-thyroglobulin antibody positivity	Sometimes (5–29%)
Anti-thyroid peroxidase antibody positivity	Sometimes (5–29%)
Anti-type VII collagen antibody	Sometimes (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Sometimes (5–29%)
Antinuclear antibody positivity	Sometimes (5–29%)
BCGitis	Sometimes (5–29%)
Cytoplasmic antineutrophil antibody positivity	Sometimes (5–29%)
Discoid lupus rash	Sometimes (5–29%)
Inflammation of fat tissue	Sometimes (5–29%)
Neutrophilic infiltration of the skin	Sometimes (5–29%)
Recurrent bronchitis	Sometimes (5–29%)
Recurrent pneumonia	Sometimes (5–29%)
Systemic lupus erythematosus	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Unequal size of red blood cells	Always
Autoimmune hemolytic anemia	Often (30–79%)
Coombs-positive hemolytic anemia	Often (30–79%)
Elevated white blood count	Often (30–79%)
Autoimmune neutropenia	Sometimes (5–29%)
Autoimmune thrombocytopenia	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Recurrent gastroenteritis	Often (30–79%)
Crohn's disease	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Ileitis	Sometimes (5–29%)
Ulcerative colitis	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Often (30–79%)
Increased circulating IgE concentration	Often (30–79%)
Decreased circulating IgG concentration	Sometimes (5–29%)
Decreased circulating IgM concentration	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Thickened skin folds of neck	Always
Mastoiditis	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swelling or irritation of membrane around heart	Always
Increased spleen size	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Polyarticular arthritis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay as children	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DOCK11 and how often each is seen. Find out more at hpo.jax.org.

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