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Egenskaber
Egenskaber knyttet til ITPR3
inositol 1,4,5-trisphosphate receptor type 3
Human Phenotype Ontology knytter 138 egenskaber til ITPR3, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.
AtlasHvem vi hjælperVores videnskabProdukterResultater
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Abnormality of blood and blood-forming tissues
| Egenskab | Hvor ofte det ses |
|---|---|
| Abnormal TCR repertoire | Altid |
| B-cell lymphoma | Altid |
| Decreased blood leukocyte number | Altid |
| Decreased blood lymphocyte number | Altid |
| Decreased CD8+ TEMRA T cell proportion | Altid |
| Decreased class-switched memory B cell proportion | Altid |
| Decreased naive CD4+ T cell proportion | Altid |
| Decreased naive CD8+ T cell proportion | Altid |
| Decreased naive T cell proportion | Altid |
| Hodgkin lymphoma | Altid |
| Increased effector memory CD4+ T cell proportion | Altid |
| Inverted CD4:CD8 ratio | Altid |
| Low blood cell count | Altid |
| Low T cell count | Altid |
| Macrocytic anemia | Altid |
| Normocytic anemia | Altid |
| Petechiae | Altid |
| Reduced total natural killer cell count | Altid |
| Decreased total CD8+ T cell proportion | Meget 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
| Egenskab | Hvor ofte det ses |
|---|---|
| Asthma | Altid |
| Bone infection | Altid |
| Bronchitis | Altid |
| Combined immunodeficiency | Altid |
| Decreased immune function | Altid |
| Decreased specific antibody response to unconjugated polysaccharide vaccine | Altid |
| Invasive pulmonary aspergillosis | Altid |
| Meningitis | Altid |
| Pneumonia | Altid |
| Post-vaccination varicella zoster virus infection | Altid |
| Recurrent chest infections | Altid |
| Recurrent pneumonia | Altid |
| Recurrent viral infections | Altid |
| Severe varicella zoster infection | Altid |
| Skin rash | Altid |
| Unusual bronchiolitis | Altid |
| Unusual molluscum contagiosum | Altid |
| 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
| Egenskab | Hvor ofte det ses |
|---|---|
| Abnormally small head | Altid |
| Chronic oral thrush | Altid |
| Cone shaped front baby tooth | Altid |
| Cone shaped front tooth | Altid |
| Cone shaped tooth | Altid |
| Delayed eruption of baby teeth | Altid |
| Facial droop | Altid |
| Frontal bossing | Altid |
| Inflammation of the mouth | Altid |
| Mastoiditis | Altid |
| Recurrent colds | Altid |
| Recurrent sinus disease | Altid |
| Recurrent viral upper respiratory tract infections | Altid |
| Sparse eyebrow | Altid |
| Sparse scalp hair | Altid |
| Failure of development of between one and six teeth | Ofte (30–79 %) |
| Peg-shaped maxillary lateral incisors | Ofte (30–79 %) |
| Decreased size of tooth | Nogle gange (5–29 %) |
Abnormality of the nervous system
| Egenskab | Hvor ofte det ses |
|---|---|
| Abnormal gait | Altid |
| Absent reflexes | Altid |
| Autism | Altid |
| Decreased sensation in extremities | Altid |
| Delayed motor skills | Altid |
| Delayed speech and language development | Altid |
| Demyelinating peripheral neuropathy | Altid |
| Encephalopathy | Altid |
| Motor delay | Altid |
| Motor polyneuropathy | Altid |
| Peripheral nerve disease | Altid |
| Peripheral neuropathy | Altid |
| Toe walking | Altid |
| Global developmental delay | Ofte (30–79 %) |
| Intellectual disability | Nogle gange (5–29 %) |
| Decreased motor nerve conduction velocity | Ikke registreret |
Abnormality of the integument
| Egenskab | Hvor ofte det ses |
|---|---|
| Brittle hair | Altid |
| Brittle nails | Altid |
| Disseminated cutaneous warts | Altid |
| Dry skin | Altid |
| Paronychia | Altid |
| Warts | Altid |
| Ectodermal dysplasia | Meget ofte (80–99 %) |
| Fine hair | Meget ofte (80–99 %) |
| Slow-growing nails | Ofte (30–79 %) |
| Sparse hair | Ofte (30–79 %) |
| Thin nail | Ofte (30–79 %) |
| Decreased ability to sweat | Nogle gange (5–29 %) |
Abnormality of the digestive system
| Egenskab | Hvor ofte det ses |
|---|---|
| Abnormality of the intestine | Altid |
| Anorexia | Altid |
| Chronic constipation | Altid |
| Constipation | Altid |
| Diarrhea | Altid |
| Enlarged liver | Altid |
| Feeding difficulties | Altid |
| Jaundice | Altid |
| Nausea | Altid |
| Secretory diarrhea | Altid |
| Stomach inflammation | Ofte (30–79 %) |
Abnormal cellular phenotype
| Egenskab | Hvor ofte det ses |
|---|---|
| Decreased circulating IgM concentration | Altid |
| Increased circulating IgA concentration | Altid |
| Impaired phytohemagglutinin-induced T lymphocyte transformation | Meget 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
| Egenskab | Hvor ofte det ses |
|---|---|
| Osteoporosis | Altid |
| Pigeon chest | Altid |
| Weakness of outermost muscles | Altid |
| Double-Jointed | Nogle gange (5–29 %) |
| Elbow contracture | Nogle gange (5–29 %) |
| Kyphoscoliosis | Nogle gange (5–29 %) |
Abnormality of the respiratory system
| Egenskab | Hvor ofte det ses |
|---|---|
| Aspiration | Altid |
| Cough | Altid |
| Lymphocytic interstitial pneumonia | Altid |
| Permanent enlargement of the airways of the lungs | Altid |
| Wheezing | Altid |
| Decreased DLCO | Ofte (30–79 %) |
Abnormality of limbs
| Egenskab | Hvor ofte det ses |
|---|---|
| Areflexia of lower limbs | Altid |
| High-arched foot | Altid |
| Hammertoe | Ofte (30–79 %) |
| Knee contracture | Nogle gange (5–29 %) |
| Thenar muscle atrophy | Nogle gange (5–29 %) |
Abnormality of the cardiovascular system
| Egenskab | Hvor ofte det ses |
|---|---|
| Enlarged liver and spleen | Altid |
| Generalized swelling of lymph nodes | Altid |
| Increased spleen size | Altid |
| Swollen lymph nodes | Altid |
| An opening in the wall separating the top two chambers of the heart | Ofte (30–79 %) |
Abnormality of the ear
| Egenskab | Hvor ofte det ses |
|---|---|
| Recurrent middle ear infection | Altid |
| Hearing impairment | Ofte (30–79 %) |
Growth abnormality
| Egenskab | Hvor ofte det ses |
|---|---|
| Faltering weight | Altid |
| Growth delay | Ofte (30–79 %) |
Laboratory abnormality
| Egenskab | Hvor ofte det ses |
|---|---|
| Bacteremia | Altid |
| Persistent EBV viremia | Altid |
Constitutional symptom
| Egenskab | Hvor ofte det ses |
|---|---|
| Fatigue | Altid |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til ITPR3 og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.
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