Trăsături

Trăsături asociate cu JAK2

Janus kinase 2

Human Phenotype Ontology asociază 114 trăsături cu JAK2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

JAK2

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Extramedullary hematopoiesis	Întotdeauna
Increased circulating hemoglobin concentration	Întotdeauna
Increased hematocrit	Întotdeauna
Increased number of platelets in blood	Întotdeauna
Myelofibrosis	Întotdeauna
Abnormal shape of platelets	Foarte des (80–99%)
Acute blood cancer	Foarte des (80–99%)
Bleeding gums	Foarte des (80–99%)
Bleeding tendency	Foarte des (80–99%)
Blood clot in artery	Foarte des (80–99%)
Blood clot in vein	Foarte des (80–99%)
Bloody nose	Foarte des (80–99%)
Bone marrow disease	Foarte des (80–99%)
Bruising susceptibility	Foarte des (80–99%)
Increased megakaryocyte count	Foarte des (80–99%)
Increased red blood cells	Foarte des (80–99%)
Megakaryocyte nucleus hyperlobulation	Foarte des (80–99%)
Myelodysplasia	Foarte des (80–99%)
Platelet abnormalities	Foarte des (80–99%)
Prolonged bleeding time	Foarte des (80–99%)
Abnormal megakaryocyte morphology	Des (30–79%)
Abnormality of blood and blood-forming tissues	Des (30–79%)
Blood clot in liver vein	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Low platelet count	Des (30–79%)
Abnormal blood clot	Uneori (5–29%)
Acute myeloid leukemia	Uneori (5–29%)
Blood clot in portal vein	Uneori (5–29%)
Blood spots	Uneori (5–29%)
Bone marrow hypercellularity	Uneori (5–29%)
Chronic myelogenous leukemia	Uneori (5–29%)
Ecchymosis	Uneori (5–29%)
Elevated white blood count	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)
Low blood cell count	Uneori (5–29%)
Petechiae	Uneori (5–29%)
Poikilocytosis	Uneori (5–29%)
Blood tumor	Rar (1–4%)
Bleeding in brain	Neînregistrat
Increased micromegakaryocyte count	Neînregistrat
Increased red blood cell mass	Neînregistrat
Myeloproliferative disorder	Neînregistrat
Peripheral blood clot	Neînregistrat
Thromboembolism	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Întotdeauna
Abnormality of the cerebral blood vessels	Foarte des (80–99%)
Angina pectoris	Foarte des (80–99%)
Heart attack	Foarte des (80–99%)
High blood pressure	Foarte des (80–99%)
Portal hypertension	Foarte des (80–99%)
Disruption of blood oxygen supply to brain	Des (30–79%)
Enlarged liver and spleen	Des (30–79%)
Ischemic stroke	Des (30–79%)
Mini stroke	Des (30–79%)
Peripheral arterial stenosis	Des (30–79%)
Blood clot in artery of lung	Uneori (5–29%)
Budd-Chiari syndrome	Uneori (5–29%)
Fainting spell	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Intermittent claudication	Uneori (5–29%)
Stroke	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Strawberry mark	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Abdominal pain	Foarte des (80–99%)
Accumulation of fluid in the abdomen	Foarte des (80–99%)
Enlarged vein in esophagus	Des (30–79%)
Scar tissue replaces healthy tissue in the liver	Des (30–79%)
Acute liver failure	Uneori (5–29%)
Anorexia	Uneori (5–29%)
Death of digestive organ tissue due to poor blood supply	Uneori (5–29%)
Feeling full quickly when eating	Uneori (5–29%)
Gallbladder inflammation	Uneori (5–29%)
Intestinal obstruction	Uneori (5–29%)
Jaundice	Uneori (5–29%)
Malabsorption	Uneori (5–29%)
Peritonitis	Uneori (5–29%)
Hepatocellular carcinoma	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Headache	Foarte des (80–99%)
Pins and needles feeling	Foarte des (80–99%)
Difficulty staying or falling asleep	Des (30–79%)
Migraine	Des (30–79%)
Difficulty articulating speech	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Hepatic encephalopathy	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Foarte des (80–99%)
Fatigue	Foarte des (80–99%)
Constitutional symptom	Des (30–79%)
Joint pain	Des (30–79%)
Erythromelalgia	Uneori (5–29%)
Flank pain	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated alkaline phosphatase	Des (30–79%)
Fever	Des (30–79%)
High liver enzymes	Des (30–79%)
Low-grade fever	Uneori (5–29%)
Increased circulating lactate dehydrogenase concentration	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Amaurosis fugax	Foarte des (80–99%)
Abnormality of vision	Des (30–79%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Paleness	Întotdeauna
Excessive sweating	Des (30–79%)
Itching	Des (30–79%)
Plethora	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Foarte des (80–99%)
Ringing in ears	Foarte des (80–99%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Des (30–79%)
Exertional breathlessness	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Foarte des (80–99%)
Wasting syndrome	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bipedal edema	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal failure	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Autoimmune antibody positivity	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Tired easily	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 JAK2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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