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	Kaip dažnai pasireiškia
Abnormally low T cell receptor excision circle level	Visada
Absence of circulating granulocytes	Visada
Bone marrow failure	Visada
Congenital agranulocytosis	Visada
Congenital thrombocytopenia	Visada
Decreased blood leukocyte number	Visada
Decreased blood lymphocyte number	Visada
Decreased naive CD4+ T cell proportion	Visada
Decreased naive CD8+ T cell proportion	Visada
Decreased total CD4+ T cell proportion	Visada
Decreased total CD8+ T cell proportion	Visada
Decreased total eosinophil count	Visada
Low B cell count	Visada
Low blood cell count	Visada
Low blood neutrophil count	Visada
Low T cell count	Visada
Reduced total natural killer cell count	Visada
Severely decreased neutrophil count	Visada
Abnormality of neutrophils	Labai dažnai (80–99%)
Low number of red blood cells or hemoglobin	Labai dažnai (80–99%)
Low blood monocyte number	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Bacterial sepsis	Visada
Decreased immune function	Visada
Fungal sepsis	Visada
Neonatal sepsis	Visada
Red scaly skin caused by inflammatory skin disease	Visada
Severe Aspergillus infection	Visada
Severe Klebsiella infection	Visada
Severe Pseudomonas aeruginosa infection	Visada
Cellular immunodeficiency	Labai dažnai (80–99%)
Infection in blood stream	Labai dažnai (80–99%)
Recurrent respiratory infections	Labai dažnai (80–99%)
Severe combined immunodeficiency	Labai dažnai (80–99%)
Skin rash	Kartais (5–29%)
Combined immunodeficiency	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated circulating C-reactive protein concentration	Visada
Elevated circulating sCD25 concentration	Visada
Elevated serum ferritin	Visada
Increased circulating procalcitonin concentration	Visada
Increased plasma triglycerides	Visada
Low-grade fever	Visada
Metabolic acidosis	Visada
Fever	Dažnai (30–79%)
Dehydration	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Decreased mitogen-induced T-cell proliferation	Visada
Decreased natural killer cell-induced killing of target cells	Visada
Impaired phytohemagglutinin-induced T lymphocyte transformation	Visada
Abnormality of mitochondrial metabolism	Labai dažnai (80–99%)
Decreased circulating antibody level	Labai dažnai (80–99%)
Decreased circulating IgA concentration	Labai dažnai (80–99%)
Decreased circulating IgM concentration	Dažnai (30–79%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Accumulation of fluid in the abdomen	Visada
Cholestatic liver disease	Visada
Diarrhea	Visada
Enlarged liver	Visada
Feeding difficulties	Visada
Narrowing of small intestine	Visada
Malabsorption	Dažnai (30–79%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Absent thymus	Visada
Generalized swelling of lymph nodes	Visada
Absent/small thymus	Labai dažnai (80–99%)
Small thymus	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Visada
Faltering weight	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Visada
Sensorineural hearing impairment	Visada
Chronic infections of the middle ear	Labai dažnai (80–99%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Thickened skin	Visada
Open skin sore	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Lethargy	Visada

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Breathing difficulties	Visada

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Weak cry	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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