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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 | Kui sageli seda täheldatakse |
|---|---|
| Abnormal TCR repertoire | Alati |
| B-cell lymphoma | Alati |
| Decreased blood leukocyte number | Alati |
| Decreased blood lymphocyte number | Alati |
| Decreased CD8+ TEMRA T cell proportion | Alati |
| Decreased class-switched memory B cell proportion | Alati |
| Decreased naive CD4+ T cell proportion | Alati |
| Decreased naive CD8+ T cell proportion | Alati |
| Decreased naive T cell proportion | Alati |
| Hodgkin lymphoma | Alati |
| Increased effector memory CD4+ T cell proportion | Alati |
| Inverted CD4:CD8 ratio | Alati |
| Low blood cell count | Alati |
| Low T cell count | Alati |
| Macrocytic anemia | Alati |
| Normocytic anemia | Alati |
| Petechiae | Alati |
| Reduced total natural killer cell count | Alati |
| Decreased total CD8+ T cell proportion | Väga sageli (80–99%) |
| Abnormally low T cell receptor excision circle level | Sageli (30–79%) |
| Autoimmune thrombocytopenia | Sageli (30–79%) |
| Cancer of lymphatic system | Sageli (30–79%) |
| Decreased total CD4+ T cell proportion | Sageli (30–79%) |
| Low B cell count | Sageli (30–79%) |
| Low platelet count | Sageli (30–79%) |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Asthma | Alati |
| Bone infection | Alati |
| Bronchitis | Alati |
| Combined immunodeficiency | Alati |
| Decreased immune function | Alati |
| Decreased specific antibody response to unconjugated polysaccharide vaccine | Alati |
| Invasive pulmonary aspergillosis | Alati |
| Meningitis | Alati |
| Pneumonia | Alati |
| Post-vaccination varicella zoster virus infection | Alati |
| Recurrent chest infections | Alati |
| Recurrent pneumonia | Alati |
| Recurrent viral infections | Alati |
| Severe varicella zoster infection | Alati |
| Skin rash | Alati |
| Unusual bronchiolitis | Alati |
| Unusual molluscum contagiosum | Alati |
| Antinuclear antibody positivity | Sageli (30–79%) |
| Eczema | Sageli (30–79%) |
| Partial absence of specific antibody response to tetanus vaccine | Sageli (30–79%) |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Chronic oral thrush | Alati |
| Cone shaped front baby tooth | Alati |
| Cone shaped front tooth | Alati |
| Cone shaped tooth | Alati |
| Delayed eruption of baby teeth | Alati |
| Facial droop | Alati |
| Frontal bossing | Alati |
| Inflammation of the mouth | Alati |
| Mastoiditis | Alati |
| Recurrent colds | Alati |
| Recurrent sinus disease | Alati |
| Recurrent viral upper respiratory tract infections | Alati |
| Sparse eyebrow | Alati |
| Sparse scalp hair | Alati |
| Failure of development of between one and six teeth | Sageli (30–79%) |
| Peg-shaped maxillary lateral incisors | Sageli (30–79%) |
| Decreased size of tooth | Mõnikord (5–29%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal gait | Alati |
| Absent reflexes | Alati |
| Autism | Alati |
| Decreased sensation in extremities | Alati |
| Delayed motor skills | Alati |
| Delayed speech and language development | Alati |
| Demyelinating peripheral neuropathy | Alati |
| Encephalopathy | Alati |
| Motor delay | Alati |
| Motor polyneuropathy | Alati |
| Peripheral nerve disease | Alati |
| Peripheral neuropathy | Alati |
| Toe walking | Alati |
| Global developmental delay | Sageli (30–79%) |
| Intellectual disability | Mõnikord (5–29%) |
| Decreased motor nerve conduction velocity | Pole registreeritud |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Brittle hair | Alati |
| Brittle nails | Alati |
| Disseminated cutaneous warts | Alati |
| Dry skin | Alati |
| Paronychia | Alati |
| Warts | Alati |
| Ectodermal dysplasia | Väga sageli (80–99%) |
| Fine hair | Väga sageli (80–99%) |
| Slow-growing nails | Sageli (30–79%) |
| Sparse hair | Sageli (30–79%) |
| Thin nail | Sageli (30–79%) |
| Decreased ability to sweat | Mõnikord (5–29%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the intestine | Alati |
| Anorexia | Alati |
| Chronic constipation | Alati |
| Constipation | Alati |
| Diarrhea | Alati |
| Enlarged liver | Alati |
| Feeding difficulties | Alati |
| Jaundice | Alati |
| Nausea | Alati |
| Secretory diarrhea | Alati |
| Stomach inflammation | Sageli (30–79%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating IgM concentration | Alati |
| Increased circulating IgA concentration | Alati |
| Impaired phytohemagglutinin-induced T lymphocyte transformation | Väga sageli (80–99%) |
| Abnormal circulating IgM concentration | Sageli (30–79%) |
| Decreased anti-CD3/28-induced T-cell proliferation | Sageli (30–79%) |
| Decreased circulating IgG concentration | Sageli (30–79%) |
| Increased circulating IgG concentration | Sageli (30–79%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Osteoporosis | Alati |
| Pigeon chest | Alati |
| Weakness of outermost muscles | Alati |
| Double-Jointed | Mõnikord (5–29%) |
| Elbow contracture | Mõnikord (5–29%) |
| Kyphoscoliosis | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Aspiration | Alati |
| Cough | Alati |
| Lymphocytic interstitial pneumonia | Alati |
| Permanent enlargement of the airways of the lungs | Alati |
| Wheezing | Alati |
| Decreased DLCO | Sageli (30–79%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Areflexia of lower limbs | Alati |
| High-arched foot | Alati |
| Hammertoe | Sageli (30–79%) |
| Knee contracture | Mõnikord (5–29%) |
| Thenar muscle atrophy | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver and spleen | Alati |
| Generalized swelling of lymph nodes | Alati |
| Increased spleen size | Alati |
| Swollen lymph nodes | Alati |
| An opening in the wall separating the top two chambers of the heart | Sageli (30–79%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Recurrent middle ear infection | Alati |
| Hearing impairment | Sageli (30–79%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Alati |
| Growth delay | Sageli (30–79%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Bacteremia | Alati |
| Persistent EBV viremia | Alati |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Alati |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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