Traits

Traits linked to NLRP3

NLR family pyrin domain containing 3

The Human Phenotype Ontology links 102 traits to NLRP3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Always
Papilledema	Always
Uveitis	Always
Inflammation of the thin layer on top of the white part of eye	Very often (80–99%)
Inflammatory abnormality of the eye	Very often (80–99%)
Pseudopapilledema	Very often (80–99%)
Bulging eye	Often (30–79%)
Opacification of the corneal stroma	Often (30–79%)
Visual impairment	Often (30–79%)
Blindness	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Retrobulbar optic neuritis	Sometimes (5–29%)
Blurred vision	Not recorded
Extreme sensitivity of the eyes to light	Not recorded
Increased tears	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Always
Rise in pressure inside skull	Always
Cranial nerve paralysis	Very often (80–99%)
Dysesthesia	Very often (80–99%)
Migraine	Very often (80–99%)
EEG abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Extreme thirst	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
Fever	Always
High ESR	Always
Fluid retention	Often (30–79%)
Laboratory abnormality	Often (30–79%)
Renal amyloidosis	Often (30–79%)
Swelling caused by excess lymph fluid under skin	Often (30–79%)
Dehydration	Sometimes (5–29%)
Periodic fever	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Canker sore	Always
Conjunctival hyperemia	Always
Pink eye	Always
Frontal bossing	Very often (80–99%)
Big calvaria	Often (30–79%)
Delayed closure of the soft spot on the skull	Often (30–79%)
Abnormality of the nose	Sometimes (5–29%)
Abnormality of the palate	Sometimes (5–29%)
Recurrent canker sores	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Always
Low number of red blood cells or hemoglobin	Always
Abnormal granulocyte morphology	Very often (80–99%)
Abnormality of neutrophils	Very often (80–99%)
High blood eosinophil count	Often (30–79%)
Platelet abnormalities	Often (30–79%)
Blood spots	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Hives	Always
Swollen lymph nodes	Always
Increased spleen size	Very often (80–99%)
Redness of skin or mucous membrane	Very often (80–99%)
Inflammation of blood vessel	Sometimes (5–29%)
Cold urticaria	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers	Always
Broad foot	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Patellar overgrowth	Often (30–79%)
High-arched foot	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Always
Polyarticular arthritis	Always
Abnormal shape of joints	Often (30–79%)
Abnormal skeletal development	Often (30–79%)
Joint dislocation	Often (30–79%)
Low solidness and mass of the bones	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Always
Joint pain	Always
Fatigue	Very often (80–99%)
Muscle ache	Very often (80–99%)
Chills	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Abdominal pain	Often (30–79%)
Hernia of the abdominal wall	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Often (30–79%)
Nephrotic syndrome	Often (30–79%)
Abnormality of the reproductive system	Sometimes (5–29%)
Renal failure	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Deep dermal perivascular inflammatory infiltrate	Always
Maculopapular exanthema	Always
Skin rash	Always
Meningitis	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Very often (80–99%)
Itching	Very often (80–99%)
Papule	Very often (80–99%)
Ichthyosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Progressive sensorineural hearing impairment	Always
Sensorineural hearing impairment	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Growth delay	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the endocrine system

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

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	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 NLRP3 and how often each is seen. Find out more at hpo.jax.org.

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