Traits

Traits linked to ITPR3

inositol 1,4,5-trisphosphate receptor type 3

The Human Phenotype Ontology links 138 traits to ITPR3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal TCR repertoire	Always
B-cell lymphoma	Always
Decreased blood leukocyte number	Always
Decreased blood lymphocyte number	Always
Decreased CD8+ TEMRA T cell proportion	Always
Decreased class-switched memory B cell proportion	Always
Decreased naive CD4+ T cell proportion	Always
Decreased naive CD8+ T cell proportion	Always
Decreased naive T cell proportion	Always
Hodgkin lymphoma	Always
Increased effector memory CD4+ T cell proportion	Always
Inverted CD4:CD8 ratio	Always
Low blood cell count	Always
Low T cell count	Always
Macrocytic anemia	Always
Normocytic anemia	Always
Petechiae	Always
Reduced total natural killer cell count	Always
Decreased total CD8+ T cell proportion	Very often (80–99%)
Abnormally low T cell receptor excision circle level	Often (30–79%)
Autoimmune thrombocytopenia	Often (30–79%)
Cancer of lymphatic system	Often (30–79%)
Decreased total CD4+ T cell proportion	Often (30–79%)
Low B cell count	Often (30–79%)
Low platelet count	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Always
Bone infection	Always
Bronchitis	Always
Combined immunodeficiency	Always
Decreased immune function	Always
Decreased specific antibody response to unconjugated polysaccharide vaccine	Always
Invasive pulmonary aspergillosis	Always
Meningitis	Always
Pneumonia	Always
Post-vaccination varicella zoster virus infection	Always
Recurrent chest infections	Always
Recurrent pneumonia	Always
Recurrent viral infections	Always
Severe varicella zoster infection	Always
Skin rash	Always
Unusual bronchiolitis	Always
Unusual molluscum contagiosum	Always
Antinuclear antibody positivity	Often (30–79%)
Eczema	Often (30–79%)
Partial absence of specific antibody response to tetanus vaccine	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Chronic oral thrush	Always
Cone shaped front baby tooth	Always
Cone shaped front tooth	Always
Cone shaped tooth	Always
Delayed eruption of baby teeth	Always
Facial droop	Always
Frontal bossing	Always
Inflammation of the mouth	Always
Mastoiditis	Always
Recurrent colds	Always
Recurrent sinus disease	Always
Recurrent viral upper respiratory tract infections	Always
Sparse eyebrow	Always
Sparse scalp hair	Always
Failure of development of between one and six teeth	Often (30–79%)
Peg-shaped maxillary lateral incisors	Often (30–79%)
Decreased size of tooth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Absent reflexes	Always
Autism	Always
Decreased sensation in extremities	Always
Delayed motor skills	Always
Delayed speech and language development	Always
Demyelinating peripheral neuropathy	Always
Encephalopathy	Always
Motor delay	Always
Motor polyneuropathy	Always
Peripheral nerve disease	Always
Peripheral neuropathy	Always
Toe walking	Always
Global developmental delay	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Decreased motor nerve conduction velocity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always
Brittle nails	Always
Disseminated cutaneous warts	Always
Dry skin	Always
Paronychia	Always
Warts	Always
Ectodermal dysplasia	Very often (80–99%)
Fine hair	Very often (80–99%)
Slow-growing nails	Often (30–79%)
Sparse hair	Often (30–79%)
Thin nail	Often (30–79%)
Decreased ability to sweat	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the intestine	Always
Anorexia	Always
Chronic constipation	Always
Constipation	Always
Diarrhea	Always
Enlarged liver	Always
Feeding difficulties	Always
Jaundice	Always
Nausea	Always
Secretory diarrhea	Always
Stomach inflammation	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgM concentration	Always
Increased circulating IgA concentration	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Very often (80–99%)
Abnormal circulating IgM concentration	Often (30–79%)
Decreased anti-CD3/28-induced T-cell proliferation	Often (30–79%)
Decreased circulating IgG concentration	Often (30–79%)
Increased circulating IgG concentration	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Always
Pigeon chest	Always
Weakness of outermost muscles	Always
Double-Jointed	Sometimes (5–29%)
Elbow contracture	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Always
Cough	Always
Lymphocytic interstitial pneumonia	Always
Permanent enlargement of the airways of the lungs	Always
Wheezing	Always
Decreased DLCO	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Areflexia of lower limbs	Always
High-arched foot	Always
Hammertoe	Often (30–79%)
Knee contracture	Sometimes (5–29%)
Thenar muscle atrophy	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Generalized swelling of lymph nodes	Always
Increased spleen size	Always
Swollen lymph nodes	Always
An opening in the wall separating the top two chambers of the heart	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Hearing impairment	Often (30–79%)

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Bacteremia	Always
Persistent EBV viremia	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always

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 ITPR3 and how often each is seen. Find out more at hpo.jax.org.

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