Traits

Traits linked to MEFV

MEFV innate immunity regulator, pyrin

The Human Phenotype Ontology links 158 traits to MEFV, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Cystic acne	Always
Abnormal circulating interleukin concentration	Very often (80–99%)
Erysipelas	Very often (80–99%)
Meningitis	Very often (80–99%)
Predominantly dermal neutrophilic infiltrate	Very often (80–99%)
Abnormality of tumor necrosis factor secretion	Often (30–79%)
Acne	Often (30–79%)
Acne inversa	Often (30–79%)
Erythema nodosum	Often (30–79%)
Immunologic hypersensitivity	Often (30–79%)
Increased circulating interleukin 6 concentration	Often (30–79%)
Increased inflammatory response	Often (30–79%)
Inflammation of fat tissue	Often (30–79%)
Muscle inflammation	Often (30–79%)
Pimple	Often (30–79%)
Sterile abscess	Often (30–79%)
Brain inflammation	Sometimes (5–29%)
Non-infectious meningitis	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Skin rash	Sometimes (5–29%)

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%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Headache	Often (30–79%)
Irritability	Often (30–79%)
Numbness	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Increased reflexes	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 digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Peritonitis	Very often (80–99%)
Diarrhea	Often (30–79%)
Intermittent abdominal pain	Often (30–79%)
Poor appetite	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Acute liver failure	Sometimes (5–29%)
Anorexia	Sometimes (5–29%)
Crohn's disease	Sometimes (5–29%)
Death of digestive organ tissue due to poor blood supply	Sometimes (5–29%)
Inflammation of the large intestine	Sometimes (5–29%)
Intestinal obstruction	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Chronic constipation	Rarely (1–4%)
Enlarged liver	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Inflammation of blood vessel	Very often (80–99%)
Redness of skin or mucous membrane	Often (30–79%)
Small vessel vasculitis	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
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%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Swelling or irritation of membrane around heart	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always
High urine protein levels	Always
Elevated circulating C-reactive protein concentration	Very often (80–99%)
Fever	Very often (80–99%)
Joint swelling	Very often (80–99%)
High ESR	Often (30–79%)
Non-periodic recurrent fever	Often (30–79%)
Renal amyloidosis	Often (30–79%)
AA amyloidosis	Sometimes (5–29%)
Abnormal drug response	Sometimes (5–29%)
Amyloid deposition	Sometimes (5–29%)
Fluid around lungs	Sometimes (5–29%)
Elevated circulating serum amyloid A concentration	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in vein	Often (30–79%)
Elevated white blood count	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Hyperfibrinogenemia	Often (30–79%)
Increased blood neutrophil counts	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Superficial thrombophlebitis	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Blood clot in artery	Sometimes (5–29%)
Blood tumor	Sometimes (5–29%)
Chronic lymphatic leukemia	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%)
Renal failure	Often (30–79%)
Epididymitis	Sometimes (5–29%)
Glomerulopathy	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Nephrotic syndrome	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Glomerulonephritis	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Erythematous papule	Very often (80–99%)
Erythematous plaque	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Papule	Very often (80–99%)
Pyoderma gangrenosum	Very often (80–99%)
Skin nodule	Very often (80–99%)
Abnormal blistering of the skin	Often (30–79%)
Positive pathergy test	Often (30–79%)
Skin vesicle	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 head or neck

Trait	How often it is seen
Mouth sore	Very often (80–99%)
Recurrent canker sores	Very often (80–99%)
Abnormality of the face	Often (30–79%)
Abnormality of the neck	Often (30–79%)
Oral white patch	Often (30–79%)
Canker sore	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Polyarticular arthritis	Always
Arthritis	Very often (80–99%)
Death of bone due to decreased blood supply	Sometimes (5–29%)
Degenerative joint disease	Sometimes (5–29%)
Lumbago	Sometimes (5–29%)
Oligoarthritis	Sometimes (5–29%)
Calcium deposits in joints	Rarely (1–4%)

Constitutional symptom

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

Abnormality of limbs

Trait	How often it is seen
Abnormality of the hand	Often (30–79%)
Abnormality of the knee	Often (30–79%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Knee joint over-flexibility	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Inflammation of tissues lining lungs and chest	Very often (80–99%)
Coughing up blood	Sometimes (5–29%)
Lung infiltrates	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Rarely (1–4%)

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

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