Tunnused

Geeniga AK2 seotud tunnused

adenylate kinase 2

Inimese fenotüübi ontoloogia seostab geeniga AK2 76 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Abnormally low T cell receptor excision circle level	Alati
Absence of circulating granulocytes	Alati
Bone marrow failure	Alati
Congenital agranulocytosis	Alati
Congenital thrombocytopenia	Alati
Decreased blood leukocyte number	Alati
Decreased blood lymphocyte number	Alati
Decreased naive CD4+ T cell proportion	Alati
Decreased naive CD8+ T cell proportion	Alati
Decreased total CD4+ T cell proportion	Alati
Decreased total CD8+ T cell proportion	Alati
Decreased total eosinophil count	Alati
Low B cell count	Alati
Low blood cell count	Alati
Low blood neutrophil count	Alati
Low T cell count	Alati
Reduced total natural killer cell count	Alati
Severely decreased neutrophil count	Alati
Abnormality of neutrophils	Väga sageli (80–99%)
Low number of red blood cells or hemoglobin	Väga sageli (80–99%)
Low blood monocyte number	Sageli (30–79%)
Low platelet count	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Bacterial sepsis	Alati
Decreased immune function	Alati
Fungal sepsis	Alati
Neonatal sepsis	Alati
Red scaly skin caused by inflammatory skin disease	Alati
Severe Aspergillus infection	Alati
Severe Klebsiella infection	Alati
Severe Pseudomonas aeruginosa infection	Alati
Cellular immunodeficiency	Väga sageli (80–99%)
Infection in blood stream	Väga sageli (80–99%)
Recurrent respiratory infections	Väga sageli (80–99%)
Severe combined immunodeficiency	Väga sageli (80–99%)
Skin rash	Mõnikord (5–29%)
Combined immunodeficiency	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated circulating C-reactive protein concentration	Alati
Elevated circulating sCD25 concentration	Alati
Elevated serum ferritin	Alati
Increased circulating procalcitonin concentration	Alati
Increased plasma triglycerides	Alati
Low-grade fever	Alati
Metabolic acidosis	Alati
Fever	Sageli (30–79%)
Dehydration	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased mitogen-induced T-cell proliferation	Alati
Decreased natural killer cell-induced killing of target cells	Alati
Impaired phytohemagglutinin-induced T lymphocyte transformation	Alati
Abnormality of mitochondrial metabolism	Väga sageli (80–99%)
Decreased circulating antibody level	Väga sageli (80–99%)
Decreased circulating IgA concentration	Väga sageli (80–99%)
Decreased circulating IgM concentration	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Accumulation of fluid in the abdomen	Alati
Cholestatic liver disease	Alati
Diarrhea	Alati
Enlarged liver	Alati
Feeding difficulties	Alati
Narrowing of small intestine	Alati
Malabsorption	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Absent thymus	Alati
Generalized swelling of lymph nodes	Alati
Absent/small thymus	Väga sageli (80–99%)
Small thymus	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Faltering weight	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)
Weight loss	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Alati
Sensorineural hearing impairment	Alati
Chronic infections of the middle ear	Väga sageli (80–99%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Thickened skin	Alati
Open skin sore	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Lethargy	Alati

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Alati

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Weak cry	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga AK2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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