Traits

Traits linked to ERAP1

endoplasmic reticulum aminopeptidase 1

The Human Phenotype Ontology links 85 traits to ERAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Migraine	Very often (80–99%)
Abnormal gait	Often (30–79%)
Confusion	Often (30–79%)
Headache	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Inflammation of blood vessel	Very often (80–99%)
Abnormal myocardium morphology	Sometimes (5–29%)
Aortic regurgitation	Sometimes (5–29%)
Blood clot in artery of lung	Sometimes (5–29%)
Disruption of blood oxygen supply to brain	Sometimes (5–29%)
Endocarditis	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Swelling or irritation of membrane around heart	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Meningitis	Very often (80–99%)
Acne	Often (30–79%)
Erythema nodosum	Often (30–79%)
Immunologic hypersensitivity	Often (30–79%)
Increased inflammatory response	Often (30–79%)
Pimple	Often (30–79%)
Brain inflammation	Sometimes (5–29%)
Muscle inflammation	Sometimes (5–29%)
Non-infectious meningitis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Very often (80–99%)
Nongranulomatous uveitis	Often (30–79%)
Panuveitis	Often (30–79%)
Blindness	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)
Optic neuritis	Sometimes (5–29%)
Retrobulbar optic neuritis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Very often (80–99%)
Abdominal pain	Often (30–79%)
Anorexia	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Diarrhea	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Inflammation of testicles	Very often (80–99%)
Genital ulcers	Often (30–79%)
Epididymitis	Sometimes (5–29%)
Glomerulopathy	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Glomerulonephritis	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Fever	Very often (80–99%)
Elevated circulating C-reactive protein concentration	Often (30–79%)
High ESR	Often (30–79%)
AA amyloidosis	Sometimes (5–29%)
Episodic fever	Sometimes (5–29%)
Fluid around lungs	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in vein	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Superficial thrombophlebitis	Often (30–79%)
Blood clot in artery	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Very often (80–99%)
Papule	Very often (80–99%)
Abnormal blistering of the skin	Often (30–79%)
Positive pathergy test	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Muscle ache	Very often (80–99%)
Joint pain	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Mouth sore	Very often (80–99%)
Recurrent canker sores	Very often (80–99%)
Dry eye syndrome	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Coughing up blood	Sometimes (5–29%)
Inflammation of tissues lining lungs and chest	Sometimes (5–29%)
Lung infiltrates	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Very often (80–99%)
Death of bone due to decreased blood supply	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 ERAP1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test