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Traits
Traits linked to EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
The Human Phenotype Ontology links 70 traits to EIF2AK3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal development of end part of bone | Always |
| Abnormal skeletal development | Very often (80–99%) |
| Multiple epiphyseal dysplasia | Often (30–79%) |
| Muscle weakness | Sometimes (5–29%) |
| Barrel-shaped chest | Not recorded |
| Flat end part of bone | Not recorded |
| Flattened vertebrae | Not recorded |
| Hypoplasia of the odontoid process | Not recorded |
| Irregular vertebral endplates | Not recorded |
| Narrow iliac wing | Not recorded |
| Osteoporosis | Not recorded |
| Prominent swayback | Not recorded |
| Small end part of bone | Not recorded |
| Spasticity and rigidity of muscles | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Metaphyseal dysplasia | Often (30–79%) |
| Cone-shaped end part of finger bones | Not recorded |
| Coxa valga | Not recorded |
| Hip dislocation | Not recorded |
| Increased bone density of end part of the hand bones | Not recorded |
| Increased bone density of end part of the toes | Not recorded |
| Irregular ankle bone maturation | Not recorded |
| Irregular wrist bones | Not recorded |
| Knock knees | Not recorded |
| Partial hip dislocation | Not recorded |
| Shortening of all middle phalanges of the fingers | Not recorded |
| Small carpal bones | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Insulin resistant diabetes | Always |
| Neonatal insulin-dependent diabetes mellitus | Very often (80–99%) |
| High liver enzymes | Often (30–79%) |
| Low albumin | Often (30–79%) |
| Dehydration | Sometimes (5–29%) |
| Fever | Sometimes (5–29%) |
| High blood ammonia levels | Sometimes (5–29%) |
| High blood bilirubin levels | Sometimes (5–29%) |
| Ketoacidosis | Sometimes (5–29%) |
| Low blood sodium levels | Rarely (1–4%) |
| Type 1 diabetes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormality of the liver | Very often (80–99%) |
| Acute liver failure | Often (30–79%) |
| Enlarged liver | Sometimes (5–29%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Sometimes (5–29%) |
| Jaundice | Sometimes (5–29%) |
| Accumulation of fluid in the abdomen | Rarely (1–4%) |
| Reduced pancreatic beta cells | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal gait | Sometimes (5–29%) |
| Brain imaging abnormality | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Hepatic encephalopathy | Rarely (1–4%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Sometimes (5–29%) |
| Depressed nasal bridge | Not recorded |
| High palate | Not recorded |
| Pit in front of the ear | Not recorded |
| Upward slanting of the opening between the eyelids | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low blood neutrophil count | Often (30–79%) |
| High lymphocyte count | Sometimes (5–29%) |
| Iron deficiency anemia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Decreased body weight | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Rarely (1–4%) |
| Double outlet right ventricle | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Central hypothyroidism | Sometimes (5–29%) |
| Underactive thyroid | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Sometimes (5–29%) |
| Wide-set eyes | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Chronic kidney disease | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent infections | Sometimes (5–29%) |
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 EIF2AK3 and how often each is seen. Find out more at hpo.jax.org.
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