Traits

Traits linked to AK2

adenylate kinase 2

The Human Phenotype Ontology links 76 traits to AK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally low T cell receptor excision circle level	Always
Absence of circulating granulocytes	Always
Bone marrow failure	Always
Congenital agranulocytosis	Always
Congenital thrombocytopenia	Always
Decreased blood leukocyte number	Always
Decreased blood lymphocyte number	Always
Decreased naive CD4+ T cell proportion	Always
Decreased naive CD8+ T cell proportion	Always
Decreased total CD4+ T cell proportion	Always
Decreased total CD8+ T cell proportion	Always
Decreased total eosinophil count	Always
Low B cell count	Always
Low blood cell count	Always
Low blood neutrophil count	Always
Low T cell count	Always
Reduced total natural killer cell count	Always
Severely decreased neutrophil count	Always
Abnormality of neutrophils	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Low blood monocyte number	Often (30–79%)
Low platelet count	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Bacterial sepsis	Always
Decreased immune function	Always
Fungal sepsis	Always
Neonatal sepsis	Always
Red scaly skin caused by inflammatory skin disease	Always
Severe Aspergillus infection	Always
Severe Klebsiella infection	Always
Severe Pseudomonas aeruginosa infection	Always
Cellular immunodeficiency	Very often (80–99%)
Infection in blood stream	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Skin rash	Sometimes (5–29%)
Combined immunodeficiency	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Elevated circulating sCD25 concentration	Always
Elevated serum ferritin	Always
Increased circulating procalcitonin concentration	Always
Increased plasma triglycerides	Always
Low-grade fever	Always
Metabolic acidosis	Always
Fever	Often (30–79%)
Dehydration	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased mitogen-induced T-cell proliferation	Always
Decreased natural killer cell-induced killing of target cells	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Always
Abnormality of mitochondrial metabolism	Very often (80–99%)
Decreased circulating antibody level	Very often (80–99%)
Decreased circulating IgA concentration	Very often (80–99%)
Decreased circulating IgM concentration	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Always
Cholestatic liver disease	Always
Diarrhea	Always
Enlarged liver	Always
Feeding difficulties	Always
Narrowing of small intestine	Always
Malabsorption	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent thymus	Always
Generalized swelling of lymph nodes	Always
Absent/small thymus	Very often (80–99%)
Small thymus	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Often (30–79%)
Small for gestational age	Often (30–79%)
Weight loss	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Sensorineural hearing impairment	Always
Chronic infections of the middle ear	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Thickened skin	Always
Open skin sore	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Lethargy	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always

Abnormality of the voice

Trait	How often it is seen
Weak cry	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 AK2 and how often each is seen. Find out more at hpo.jax.org.

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