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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su ITPR3 susiję požymiai
inositol 1,4,5-trisphosphate receptor type 3
Žmogaus fenotipo ontologija sieja 138 požymių su ITPR3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal TCR repertoire | Visada |
| B-cell lymphoma | Visada |
| Decreased blood leukocyte number | Visada |
| Decreased blood lymphocyte number | Visada |
| Decreased CD8+ TEMRA T cell proportion | Visada |
| Decreased class-switched memory B cell proportion | Visada |
| Decreased naive CD4+ T cell proportion | Visada |
| Decreased naive CD8+ T cell proportion | Visada |
| Decreased naive T cell proportion | Visada |
| Hodgkin lymphoma | Visada |
| Increased effector memory CD4+ T cell proportion | Visada |
| Inverted CD4:CD8 ratio | Visada |
| Low blood cell count | Visada |
| Low T cell count | Visada |
| Macrocytic anemia | Visada |
| Normocytic anemia | Visada |
| Petechiae | Visada |
| Reduced total natural killer cell count | Visada |
| Decreased total CD8+ T cell proportion | Labai dažnai (80–99%) |
| Abnormally low T cell receptor excision circle level | Dažnai (30–79%) |
| Autoimmune thrombocytopenia | Dažnai (30–79%) |
| Cancer of lymphatic system | Dažnai (30–79%) |
| Decreased total CD4+ T cell proportion | Dažnai (30–79%) |
| Low B cell count | Dažnai (30–79%) |
| Low platelet count | Dažnai (30–79%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Asthma | Visada |
| Bone infection | Visada |
| Bronchitis | Visada |
| Combined immunodeficiency | Visada |
| Decreased immune function | Visada |
| Decreased specific antibody response to unconjugated polysaccharide vaccine | Visada |
| Invasive pulmonary aspergillosis | Visada |
| Meningitis | Visada |
| Pneumonia | Visada |
| Post-vaccination varicella zoster virus infection | Visada |
| Recurrent chest infections | Visada |
| Recurrent pneumonia | Visada |
| Recurrent viral infections | Visada |
| Severe varicella zoster infection | Visada |
| Skin rash | Visada |
| Unusual bronchiolitis | Visada |
| Unusual molluscum contagiosum | Visada |
| Antinuclear antibody positivity | Dažnai (30–79%) |
| Eczema | Dažnai (30–79%) |
| Partial absence of specific antibody response to tetanus vaccine | Dažnai (30–79%) |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormally small head | Visada |
| Chronic oral thrush | Visada |
| Cone shaped front baby tooth | Visada |
| Cone shaped front tooth | Visada |
| Cone shaped tooth | Visada |
| Delayed eruption of baby teeth | Visada |
| Facial droop | Visada |
| Frontal bossing | Visada |
| Inflammation of the mouth | Visada |
| Mastoiditis | Visada |
| Recurrent colds | Visada |
| Recurrent sinus disease | Visada |
| Recurrent viral upper respiratory tract infections | Visada |
| Sparse eyebrow | Visada |
| Sparse scalp hair | Visada |
| Failure of development of between one and six teeth | Dažnai (30–79%) |
| Peg-shaped maxillary lateral incisors | Dažnai (30–79%) |
| Decreased size of tooth | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal gait | Visada |
| Absent reflexes | Visada |
| Autism | Visada |
| Decreased sensation in extremities | Visada |
| Delayed motor skills | Visada |
| Delayed speech and language development | Visada |
| Demyelinating peripheral neuropathy | Visada |
| Encephalopathy | Visada |
| Motor delay | Visada |
| Motor polyneuropathy | Visada |
| Peripheral nerve disease | Visada |
| Peripheral neuropathy | Visada |
| Toe walking | Visada |
| Global developmental delay | Dažnai (30–79%) |
| Intellectual disability | Kartais (5–29%) |
| Decreased motor nerve conduction velocity | Neužfiksuota |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Brittle hair | Visada |
| Brittle nails | Visada |
| Disseminated cutaneous warts | Visada |
| Dry skin | Visada |
| Paronychia | Visada |
| Warts | Visada |
| Ectodermal dysplasia | Labai dažnai (80–99%) |
| Fine hair | Labai dažnai (80–99%) |
| Slow-growing nails | Dažnai (30–79%) |
| Sparse hair | Dažnai (30–79%) |
| Thin nail | Dažnai (30–79%) |
| Decreased ability to sweat | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the intestine | Visada |
| Anorexia | Visada |
| Chronic constipation | Visada |
| Constipation | Visada |
| Diarrhea | Visada |
| Enlarged liver | Visada |
| Feeding difficulties | Visada |
| Jaundice | Visada |
| Nausea | Visada |
| Secretory diarrhea | Visada |
| Stomach inflammation | Dažnai (30–79%) |
Abnormal cellular phenotype
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased circulating IgM concentration | Visada |
| Increased circulating IgA concentration | Visada |
| Impaired phytohemagglutinin-induced T lymphocyte transformation | Labai dažnai (80–99%) |
| Abnormal circulating IgM concentration | Dažnai (30–79%) |
| Decreased anti-CD3/28-induced T-cell proliferation | Dažnai (30–79%) |
| Decreased circulating IgG concentration | Dažnai (30–79%) |
| Increased circulating IgG concentration | Dažnai (30–79%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Osteoporosis | Visada |
| Pigeon chest | Visada |
| Weakness of outermost muscles | Visada |
| Double-Jointed | Kartais (5–29%) |
| Elbow contracture | Kartais (5–29%) |
| Kyphoscoliosis | Kartais (5–29%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Aspiration | Visada |
| Cough | Visada |
| Lymphocytic interstitial pneumonia | Visada |
| Permanent enlargement of the airways of the lungs | Visada |
| Wheezing | Visada |
| Decreased DLCO | Dažnai (30–79%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Areflexia of lower limbs | Visada |
| High-arched foot | Visada |
| Hammertoe | Dažnai (30–79%) |
| Knee contracture | Kartais (5–29%) |
| Thenar muscle atrophy | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Enlarged liver and spleen | Visada |
| Generalized swelling of lymph nodes | Visada |
| Increased spleen size | Visada |
| Swollen lymph nodes | Visada |
| An opening in the wall separating the top two chambers of the heart | Dažnai (30–79%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent middle ear infection | Visada |
| Hearing impairment | Dažnai (30–79%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Faltering weight | Visada |
| Growth delay | Dažnai (30–79%) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bacteremia | Visada |
| Persistent EBV viremia | Visada |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fatigue | Visada |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ITPR3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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