Traits

Traits linked to ADA

adenosine deaminase

The Human Phenotype Ontology links 71 traits to ADA, 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
Inflammatory abnormality of the skin	Always
Recurrent mucocutaneous candidiasis	Always
Recurrent pneumonia	Always
Severe combined immunodeficiency	Always
Skin rash	Always
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Abnormality of humoral immunity	Often (30–79%)
Allergy	Often (30–79%)
Anti-thyroid peroxidase antibody positivity	Often (30–79%)
Autoimmunity	Often (30–79%)
Pneumonia	Often (30–79%)
Recurrent opportunistic infections	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)
Absent specific antibody response	Not recorded
Asthma	Not recorded
Recurrent bacterial infections	Not recorded
Recurrent fungal infections	Not recorded
Recurrent viral infections	Not recorded
Severe T-cell immunodeficiency	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Always
High blood eosinophil count	Always
Low B cell count	Always
Reduced red cell adenosine deaminase level	Always
Abnormal lymphocyte morphology	Very often (80–99%)
Elevated white blood count	Often (30–79%)
Low T cell count	Often (30–79%)
Cancer of lymphatic system	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Autoimmune hemolytic anemia	Not recorded
Autoimmune thrombocytopenia	Not recorded
B-cell lymphoma	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent thymus	Always
Swollen lymph nodes	Very often (80–99%)
Absence of lymph node germinal center	Often (30–79%)
Absent tonsils	Often (30–79%)
Increased spleen size	Often (30–79%)
Pulmonic regurgitation	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Often (30–79%)
Increased circulating IgE concentration	Often (30–79%)
Decreased circulating IgA concentration	Not recorded
Decreased circulating IgG2 concentration	Not recorded
Decreased circulating IgM concentration	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hair loss	Very often (80–99%)
Dry skin	Often (30–79%)
Itching	Often (30–79%)
Thickened skin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Horizontal inferior border of scapula	Always
Abnormal shape of pelvic girdle bone	Not recorded
Anterior rib cupping	Not recorded
Flattened vertebrae	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Often (30–79%)
Sinus disease	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Sometimes (5–29%)
Short toe	Sometimes (5–29%)
Growth arrest lines	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Diarrhea	Always
Enlarged liver	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal cortical sclerosis	Often (30–79%)
Thyroid gland inflammation	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always
Fever	Often (30–79%)
Fluid retention	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)
Diffuse mesangial sclerosis	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Desquamation of skin soon after birth	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 ADA and how often each is seen. Find out more at hpo.jax.org.

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