AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu IL12A
interleukin 12A
Human Phenotype Ontology asociază 124 trăsături cu IL12A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Biliary cirrhosis | Foarte des (80–99%) |
| Nausea and vomiting | Foarte des (80–99%) |
| Scar tissue replaces healthy tissue in the liver | Foarte des (80–99%) |
| Abdominal pain | Des (30–79%) |
| Abnormal intrahepatic bile duct morphology | Des (30–79%) |
| Enlarged liver | Des (30–79%) |
| Hepatic fibrosis | Des (30–79%) |
| Hepatocellular carcinoma | Des (30–79%) |
| Jaundice | Des (30–79%) |
| Liver failure | Des (30–79%) |
| Abdominal bloating | Uneori (5–29%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Anorexia | Uneori (5–29%) |
| Celiac disease | Uneori (5–29%) |
| Enlarged vein in esophagus | Uneori (5–29%) |
| Fat in feces | Uneori (5–29%) |
| Liver inflammation | Uneori (5–29%) |
| Malabsorption | Uneori (5–29%) |
| Pancreatic inflammation | Uneori (5–29%) |
| Diarrhea | Rar (1–4%) |
| Gastrointestinal inflammation | Rar (1–4%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Migraine | Foarte des (80–99%) |
| Abnormal gait | Des (30–79%) |
| Confusion | Des (30–79%) |
| Headache | Des (30–79%) |
| Weakness of one side of body | Des (30–79%) |
| Abnormal pyramidal sign | Uneori (5–29%) |
| Ataxia | Uneori (5–29%) |
| Behavioral abnormality | Uneori (5–29%) |
| Cranial nerve paralysis | Uneori (5–29%) |
| Difficulty sleeping | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Excessive daytime sleepiness | Uneori (5–29%) |
| Hepatic encephalopathy | Uneori (5–29%) |
| Increased reflexes | Uneori (5–29%) |
| Irritability | Uneori (5–29%) |
| Loss of developmental milestones | Uneori (5–29%) |
| Memory impairment | Uneori (5–29%) |
| Pins and needles feeling | Uneori (5–29%) |
| Rise in pressure inside skull | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of blood vessel | Foarte des (80–99%) |
| Skin writing | Foarte des (80–99%) |
| Decrease in blood pressure upon standing up | Des (30–79%) |
| Portal hypertension | Des (30–79%) |
| Abnormal myocardium morphology | Uneori (5–29%) |
| Aortic regurgitation | Uneori (5–29%) |
| Blood clot in artery of lung | Uneori (5–29%) |
| Disruption of blood oxygen supply to brain | Uneori (5–29%) |
| Endocarditis | Uneori (5–29%) |
| Heart attack | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Inflammation of heart muscle | Uneori (5–29%) |
| Mitral regurgitation | Uneori (5–29%) |
| Swelling or irritation of membrane around heart | Uneori (5–29%) |
| Swollen lymph nodes | Uneori (5–29%) |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Antimitochondrial antibody positivity | Foarte des (80–99%) |
| Meningitis | Foarte des (80–99%) |
| Acne | Des (30–79%) |
| Antinuclear antibody positivity | Des (30–79%) |
| Autoimmunity | Des (30–79%) |
| Erythema nodosum | Des (30–79%) |
| Immunologic hypersensitivity | Des (30–79%) |
| Increased inflammatory response | Des (30–79%) |
| Pimple | Des (30–79%) |
| Recurrent fungal infections | Des (30–79%) |
| Unusual fungal nail infection | Des (30–79%) |
| Brain inflammation | Uneori (5–29%) |
| Muscle inflammation | Uneori (5–29%) |
| Non-infectious meningitis | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Conjugated hyperbilirubinemia | Foarte des (80–99%) |
| Fever | Foarte des (80–99%) |
| Abnormal circulating lipid concentration | Des (30–79%) |
| Elevated alkaline phosphatase | Des (30–79%) |
| Elevated circulating C-reactive protein concentration | Des (30–79%) |
| Elevated gamma-glutamyltransferase level | Des (30–79%) |
| Elevated serum cholesterol | Des (30–79%) |
| High ESR | Des (30–79%) |
| AA amyloidosis | Uneori (5–29%) |
| Episodic fever | Uneori (5–29%) |
| Fluid around lungs | Uneori (5–29%) |
| Low albumin | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Extreme sensitivity of the eyes to light | Foarte des (80–99%) |
| Nongranulomatous uveitis | Des (30–79%) |
| Panuveitis | Des (30–79%) |
| Blindness | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Noninflammatory retina disease | Uneori (5–29%) |
| Optic neuritis | Uneori (5–29%) |
| Retrobulbar optic neuritis | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of testicles | Foarte des (80–99%) |
| Genital ulcers | Des (30–79%) |
| Epididymitis | Uneori (5–29%) |
| Glomerulopathy | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
| Glomerulonephritis | Rar (1–4%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Firm lump under the skin | Foarte des (80–99%) |
| Papule | Foarte des (80–99%) |
| Patchy darkened skin | Foarte des (80–99%) |
| Abnormal blistering of the skin | Des (30–79%) |
| Itching | Des (30–79%) |
| Positive pathergy test | Des (30–79%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Blood clot in vein | Des (30–79%) |
| Gastrointestinal bleeding | Des (30–79%) |
| Superficial thrombophlebitis | Des (30–79%) |
| Blood clot in artery | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Mouth sore | Foarte des (80–99%) |
| Recurrent canker sores | Foarte des (80–99%) |
| Fatty deposits in skin around the eyes | Des (30–79%) |
| Dry eye syndrome | Uneori (5–29%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Fatigue | Foarte des (80–99%) |
| Muscle ache | Foarte des (80–99%) |
| Joint pain | Des (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Arthritis | Foarte des (80–99%) |
| Death of bone due to decreased blood supply | Uneori (5–29%) |
| Osteoporosis | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Coughing up blood | Uneori (5–29%) |
| Inflammation of tissues lining lungs and chest | Uneori (5–29%) |
| Lung infiltrates | Uneori (5–29%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Increased circulating IgM concentration | Des (30–79%) |
| Increased circulating IgA concentration | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dizziness | Uneori (5–29%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the thyroid gland | Des (30–79%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Weight loss | 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 IL12A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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