Traits

Traits linked to EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

The Human Phenotype Ontology links 29 traits to EIF2AK4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Always
Centrilobular ground-glass opacification on pulmonary HRCT	Very often (80–99%)
Decreased DLCO	Very often (80–99%)
Ground-glass opacification	Very often (80–99%)
Interlobular septal thickening	Very often (80–99%)
Coughing up blood	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Hemothorax	Often (30–79%)
Low blood oxygen level	Often (30–79%)
Cough	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Pulmonary capillary hemangiomatosis	Very often (80–99%)
Swollen lymph nodes	Very often (80–99%)
Abnormal pulmonary vein morphology	Often (30–79%)
increased pulmonary artery pressure	Often (30–79%)
Right ventricular failure	Often (30–79%)
Swollen lymph nodes in center of chest	Often (30–79%)
Fluid around heart	Rarely (1–4%)
Increased blood pressure in blood vessels of lungs	Not recorded
Pulmonary venous occlusion	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers	Often (30–79%)
Fluid accumulation in lower limbs	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Not recorded
Cytoplasmic antineutrophil antibody positivity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Capillary malformation	Very often (80–99%)
Blue discoloration of the skin	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Excess fluid in lungs	Sometimes (5–29%)
Fluid around lungs	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Diffuse alveolar hemorrhage	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Often (30–79%)

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 EIF2AK4 and how often each is seen. Find out more at hpo.jax.org.

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