AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu IFIH1
interferon induced with helicase C domain 1
Human Phenotype Ontology asociază 169 trăsături cu IFIH1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Involuntary muscle stiffness, contraction, or spasm | Foarte des (80–99%) |
| Joint subluxation | Foarte des (80–99%) |
| Low muscle tone in trunk | Foarte des (80–99%) |
| Osteopenia | Foarte des (80–99%) |
| Spasticity and rigidity of muscles | Foarte des (80–99%) |
| Abnormal deposits of calcium in the brain | Des (30–79%) |
| Basal ganglia calcification | Des (30–79%) |
| Extrapyramidal muscular rigidity | Des (30–79%) |
| Intracerebral periventricular calcifications | Des (30–79%) |
| Arthritis | Uneori (5–29%) |
| Low muscle tone | Uneori (5–29%) |
| Lower limb spasticity | Uneori (5–29%) |
| Multiple joint contractures | Uneori (5–29%) |
| Muscle stiffness | Uneori (5–29%) |
| Poor head control | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Spastic paraparesis | Uneori (5–29%) |
| Spastic tetraplegia | Uneori (5–29%) |
| Enchondroma | Rar (1–4%) |
| Loss of fat tissue in localized area | Rar (1–4%) |
| Generalized decreased muscle tone | Neînregistrat |
| Muscle fiber degeneration | Neînregistrat |
| Muscle weakness | Neînregistrat |
| Osteoporosis | Neînregistrat |
| Spastic tetraparesis | Neînregistrat |
| Tendon rupture | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Enlarged liver and spleen | Des (30–79%) |
| Increased spleen size | Des (30–79%) |
| Cutis marmorata | Uneori (5–29%) |
| Enlarged and thickened heart muscle | Uneori (5–29%) |
| Enlarged heart | Uneori (5–29%) |
| Fluid around heart | Uneori (5–29%) |
| Generalized swelling of lymph nodes | Uneori (5–29%) |
| High blood pressure | Uneori (5–29%) |
| Hives | Uneori (5–29%) |
| Inflammation of blood vessel | Uneori (5–29%) |
| Raynaud phenomenon | Uneori (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Rar (1–4%) |
| Calcification of the aorta | Rar (1–4%) |
| Moyamoya phenomenon | Rar (1–4%) |
| Aortic arch calcification | Neînregistrat |
| Aortic valve calcification | Neînregistrat |
| Cardiac failure | Neînregistrat |
| Mitral valve calcification | Neînregistrat |
| Narrowing of aortic valve | Neînregistrat |
| Narrowing of blood vessel below aortic heart valve | Neînregistrat |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Broad forehead | Întotdeauna |
| High frontal hairline | Întotdeauna |
| Recurrent viral upper respiratory tract infections | Întotdeauna |
| Smooth philtrum | Întotdeauna |
| Thin red part of the upper lip | Întotdeauna |
| Decreased length of dental roots | Foarte des (80–99%) |
| Dental cavities | Foarte des (80–99%) |
| Increased thickness of skull cap | Foarte des (80–99%) |
| Abnormally small head | Des (30–79%) |
| Beaked nose | Des (30–79%) |
| Cleft eyelid | Des (30–79%) |
| Asymmetry of the posterior head | Uneori (5–29%) |
| Small head present at birth | Uneori (5–29%) |
| Decreased size of maxilla | Neînregistrat |
| Decreased size of tooth bud | Neînregistrat |
| Failure of eruption of tooth | Neînregistrat |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breakdown of small bones of fingers | Foarte des (80–99%) |
| Increased muscle tone of arm or leg | Uneori (5–29%) |
| Club feet | Neînregistrat |
| Coxa valga | Neînregistrat |
| Expanded metacarpals with widened medullary cavities | Neînregistrat |
| Expanded metatarsals with widened medullary cavities | Neînregistrat |
| Expanded phalanges with widened medullary cavities | Neînregistrat |
| High-arched foot | Neînregistrat |
| Hip dislocation | Neînregistrat |
| Hypoplastic distal radial epiphyses | Neînregistrat |
| Knock knees | Neînregistrat |
| Partial hip dislocation | Neînregistrat |
| Shallow acetabular fossae | Neînregistrat |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Recurrent respiratory infections | Întotdeauna |
| Recurrent viral pneumonia | Întotdeauna |
| Autoimmunity | Des (30–79%) |
| Chilblains | Des (30–79%) |
| Increased circulating interferon-gamma concentration | Des (30–79%) |
| Inflammation of fat tissue | Uneori (5–29%) |
| Pneumonia | Uneori (5–29%) |
| Recurrent chest infections | Uneori (5–29%) |
| Skin rash | Uneori (5–29%) |
| Muscle inflammation | Rar (1–4%) |
| Baby eczema | Neînregistrat |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Episodic fever | Întotdeauna |
| Fluid retention | Des (30–79%) |
| High liver enzymes | Des (30–79%) |
| Increased CSF interferon alpha | Des (30–79%) |
| Unexplained fevers | Des (30–79%) |
| Diabetes mellitus | Uneori (5–29%) |
| Elevated serum ferritin | Uneori (5–29%) |
| Fatty infiltration of liver | Uneori (5–29%) |
| Fever | Uneori (5–29%) |
| Fluid around lungs | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased blood lymphocyte number | Întotdeauna |
| Low platelet count | Des (30–79%) |
| Hemolytic anemia | Uneori (5–29%) |
| Low blood cell count | Uneori (5–29%) |
| Low number of red blood cells or hemoglobin | Uneori (5–29%) |
| Neonatal alloimmune thrombocytopenia | Uneori (5–29%) |
| Rectal bleeding | Uneori (5–29%) |
| Vomiting blood | Uneori (5–29%) |
| Chronic lymphatic leukemia | Rar (1–4%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Enlarged liver | Des (30–79%) |
| Atrophic gastritis | Uneori (5–29%) |
| Bloody diarrhea | Uneori (5–29%) |
| Diarrhea | Uneori (5–29%) |
| Liver inflammation | Uneori (5–29%) |
| Prolonged yellowing of skin in newborn | Uneori (5–29%) |
| Feeding difficulties | Neînregistrat |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Drooping upper eyelid | Întotdeauna |
| Abnormality of eye movement | Des (30–79%) |
| Glaucoma | Des (30–79%) |
| Developmental glaucoma | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
| Close sighted | Neînregistrat |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dry skin | Des (30–79%) |
| Persistent blue color of hands or feet | Uneori (5–29%) |
| Detachment of nail | Neînregistrat |
| Photosensitive skin | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Prenatal growth deficiency | Des (30–79%) |
| Short stature | Des (30–79%) |
| Weight loss | Uneori (5–29%) |
| Decreased body weight | Neînregistrat |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased circulating IgG3 concentration | Întotdeauna |
| Increased circulating IgG3 concentration | Întotdeauna |
| Increased antibody level in blood | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breathing difficulties | Întotdeauna |
| Ground-glass opacification | Întotdeauna |
| Respiratory failure | Întotdeauna |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Nephrotic syndrome | Uneori (5–29%) |
| Short penis | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low levels of amniotic fluid | Des (30–79%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low-set ears | Uneori (5–29%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Underactive thyroid | Uneori (5–29%) |
Abnormality of the voice
| Trăsătură | Cât de frecvent apare |
|---|---|
| Hoarse voice | Uneori (5–29%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu IFIH1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
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