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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.
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Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal TCR repertoire | Alltid |
| B-cell lymphoma | Alltid |
| Decreased blood leukocyte number | Alltid |
| Decreased blood lymphocyte number | Alltid |
| Decreased CD8+ TEMRA T cell proportion | Alltid |
| Decreased class-switched memory B cell proportion | Alltid |
| Decreased naive CD4+ T cell proportion | Alltid |
| Decreased naive CD8+ T cell proportion | Alltid |
| Decreased naive T cell proportion | Alltid |
| Hodgkin lymphoma | Alltid |
| Increased effector memory CD4+ T cell proportion | Alltid |
| Inverted CD4:CD8 ratio | Alltid |
| Low blood cell count | Alltid |
| Low T cell count | Alltid |
| Macrocytic anemia | Alltid |
| Normocytic anemia | Alltid |
| Petechiae | Alltid |
| Reduced total natural killer cell count | Alltid |
| Decreased total CD8+ T cell proportion | Svært ofte (80–99 %) |
| Abnormally low T cell receptor excision circle level | Ofte (30–79 %) |
| Autoimmune thrombocytopenia | Ofte (30–79 %) |
| Cancer of lymphatic system | Ofte (30–79 %) |
| Decreased total CD4+ T cell proportion | Ofte (30–79 %) |
| Low B cell count | Ofte (30–79 %) |
| Low platelet count | Ofte (30–79 %) |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Asthma | Alltid |
| Bone infection | Alltid |
| Bronchitis | Alltid |
| Combined immunodeficiency | Alltid |
| Decreased immune function | Alltid |
| Decreased specific antibody response to unconjugated polysaccharide vaccine | Alltid |
| Invasive pulmonary aspergillosis | Alltid |
| Meningitis | Alltid |
| Pneumonia | Alltid |
| Post-vaccination varicella zoster virus infection | Alltid |
| Recurrent chest infections | Alltid |
| Recurrent pneumonia | Alltid |
| Recurrent viral infections | Alltid |
| Severe varicella zoster infection | Alltid |
| Skin rash | Alltid |
| Unusual bronchiolitis | Alltid |
| Unusual molluscum contagiosum | Alltid |
| Antinuclear antibody positivity | Ofte (30–79 %) |
| Eczema | Ofte (30–79 %) |
| Partial absence of specific antibody response to tetanus vaccine | Ofte (30–79 %) |
Abnormality of head or neck
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormally small head | Alltid |
| Chronic oral thrush | Alltid |
| Cone shaped front baby tooth | Alltid |
| Cone shaped front tooth | Alltid |
| Cone shaped tooth | Alltid |
| Delayed eruption of baby teeth | Alltid |
| Facial droop | Alltid |
| Frontal bossing | Alltid |
| Inflammation of the mouth | Alltid |
| Mastoiditis | Alltid |
| Recurrent colds | Alltid |
| Recurrent sinus disease | Alltid |
| Recurrent viral upper respiratory tract infections | Alltid |
| Sparse eyebrow | Alltid |
| Sparse scalp hair | Alltid |
| Failure of development of between one and six teeth | Ofte (30–79 %) |
| Peg-shaped maxillary lateral incisors | Ofte (30–79 %) |
| Decreased size of tooth | Noen ganger (5–29 %) |
Abnormality of the nervous system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal gait | Alltid |
| Absent reflexes | Alltid |
| Autism | Alltid |
| Decreased sensation in extremities | Alltid |
| Delayed motor skills | Alltid |
| Delayed speech and language development | Alltid |
| Demyelinating peripheral neuropathy | Alltid |
| Encephalopathy | Alltid |
| Motor delay | Alltid |
| Motor polyneuropathy | Alltid |
| Peripheral nerve disease | Alltid |
| Peripheral neuropathy | Alltid |
| Toe walking | Alltid |
| Global developmental delay | Ofte (30–79 %) |
| Intellectual disability | Noen ganger (5–29 %) |
| Decreased motor nerve conduction velocity | Ikke registrert |
Abnormality of the integument
| Trait | Hvor ofte den forekommer |
|---|---|
| Brittle hair | Alltid |
| Brittle nails | Alltid |
| Disseminated cutaneous warts | Alltid |
| Dry skin | Alltid |
| Paronychia | Alltid |
| Warts | Alltid |
| Ectodermal dysplasia | Svært ofte (80–99 %) |
| Fine hair | Svært ofte (80–99 %) |
| Slow-growing nails | Ofte (30–79 %) |
| Sparse hair | Ofte (30–79 %) |
| Thin nail | Ofte (30–79 %) |
| Decreased ability to sweat | Noen ganger (5–29 %) |
Abnormality of the digestive system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of the intestine | Alltid |
| Anorexia | Alltid |
| Chronic constipation | Alltid |
| Constipation | Alltid |
| Diarrhea | Alltid |
| Enlarged liver | Alltid |
| Feeding difficulties | Alltid |
| Jaundice | Alltid |
| Nausea | Alltid |
| Secretory diarrhea | Alltid |
| Stomach inflammation | Ofte (30–79 %) |
Abnormal cellular phenotype
| Trait | Hvor ofte den forekommer |
|---|---|
| Decreased circulating IgM concentration | Alltid |
| Increased circulating IgA concentration | Alltid |
| Impaired phytohemagglutinin-induced T lymphocyte transformation | Svært ofte (80–99 %) |
| Abnormal circulating IgM concentration | Ofte (30–79 %) |
| Decreased anti-CD3/28-induced T-cell proliferation | Ofte (30–79 %) |
| Decreased circulating IgG concentration | Ofte (30–79 %) |
| Increased circulating IgG concentration | Ofte (30–79 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Osteoporosis | Alltid |
| Pigeon chest | Alltid |
| Weakness of outermost muscles | Alltid |
| Double-Jointed | Noen ganger (5–29 %) |
| Elbow contracture | Noen ganger (5–29 %) |
| Kyphoscoliosis | Noen ganger (5–29 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte den forekommer |
|---|---|
| Aspiration | Alltid |
| Cough | Alltid |
| Lymphocytic interstitial pneumonia | Alltid |
| Permanent enlargement of the airways of the lungs | Alltid |
| Wheezing | Alltid |
| Decreased DLCO | Ofte (30–79 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Areflexia of lower limbs | Alltid |
| High-arched foot | Alltid |
| Hammertoe | Ofte (30–79 %) |
| Knee contracture | Noen ganger (5–29 %) |
| Thenar muscle atrophy | Noen ganger (5–29 %) |
Abnormality of the cardiovascular system
| Trait | Hvor ofte den forekommer |
|---|---|
| Enlarged liver and spleen | Alltid |
| Generalized swelling of lymph nodes | Alltid |
| Increased spleen size | Alltid |
| Swollen lymph nodes | Alltid |
| An opening in the wall separating the top two chambers of the heart | Ofte (30–79 %) |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Recurrent middle ear infection | Alltid |
| Hearing impairment | Ofte (30–79 %) |
Growth abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Faltering weight | Alltid |
| Growth delay | Ofte (30–79 %) |
Laboratory abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Bacteremia | Alltid |
| Persistent EBV viremia | Alltid |
Constitutional symptom
| Trait | Hvor ofte den forekommer |
|---|---|
| Fatigue | Alltid |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- 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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