Trăsături

Trăsături asociate cu KIT

KIT proto-oncogene, receptor tyrosine kinase

Human Phenotype Ontology asociază 118 trăsături cu KIT, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Foarte des (80–99%)
Abnormal skin pigmentation	Foarte des (80–99%)
Itching	Foarte des (80–99%)
Loss of hair color	Foarte des (80–99%)
Piebald skin depigmentation	Foarte des (80–99%)
White part of hair above forehead	Foarte des (80–99%)
Erythematous papule	Des (30–79%)
Flat, discolored area of skin	Des (30–79%)
Hyperpigmented papule	Des (30–79%)
Hyperpigmented skin patches	Des (30–79%)
Paleness	Des (30–79%)
Patchy loss of skin color	Des (30–79%)
Skin nodule	Des (30–79%)
Skin plaque	Des (30–79%)
Flushing	Uneori (5–29%)
Irregular hyperpigmentation	Uneori (5–29%)
Patchy darkened skin	Uneori (5–29%)
Scaling skin	Uneori (5–29%)
Skin cancer	Uneori (5–29%)
Skin erosion	Uneori (5–29%)
Thickened skin	Uneori (5–29%)
Absent pigmentation of the ventral chest	Neînregistrat
Neurofibroma	Neînregistrat
Partial absent skin pigmentation	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal mast cell morphology	Foarte des (80–99%)
Blood tumor	Foarte des (80–99%)
Cutaneous mastocytosis	Foarte des (80–99%)
Myeloid leukemia	Foarte des (80–99%)
Bone marrow hypercellularity	Des (30–79%)
Elevated white blood count	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)
High blood eosinophil count	Des (30–79%)
Low platelet count	Des (30–79%)
Myeloproliferative disorder	Des (30–79%)
Normochromic anemia	Des (30–79%)
Normocytic anemia	Des (30–79%)
Acute myeloid leukemia	Uneori (5–29%)
Cancer of lymphatic system	Uneori (5–29%)
Chronic myelomonocytic leukemia	Uneori (5–29%)
Granulocytic hyperplasia	Uneori (5–29%)
Increased blood neutrophil counts	Uneori (5–29%)
Increased total basophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Chronic lymphatic leukemia	Rar (1–4%)
Multiple myeloma	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Gastrointestinal stroma tumor	Foarte des (80–99%)
Stomach tumor	Foarte des (80–99%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Intestinal obstruction	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Poor swallowing	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Colon tumor	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Esophageal tumor	Uneori (5–29%)
Gastrointestinal tract tumor	Uneori (5–29%)
Nausea	Uneori (5–29%)
Rectal tumor	Uneori (5–29%)
Small intestine tumor	Uneori (5–29%)
Sore in the lining of gastrointestinal tract	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Darier's sign	Foarte des (80–99%)
Hives	Foarte des (80–99%)
Elevated heart rate	Uneori (5–29%)
Fainting spell	Uneori (5–29%)
Increased spleen size	Uneori (5–29%)
Low blood pressure	Uneori (5–29%)
Redness of skin or mucous membrane	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Telangiectasia of the skin	Uneori (5–29%)
Skin writing	Rar (1–4%)
Telangiectasia macularis eruptiva perstans	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
White eyebrow	Des (30–79%)
White eyelashes	Des (30–79%)
Abnormality of cranium	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated total serum tryptase	Foarte des (80–99%)
Fever	Des (30–79%)
Peau d'orange	Des (30–79%)
Amyloid deposition	Rar (1–4%)
Angioedema	Rar (1–4%)
Elevated circulating alpha-fetoprotein concentration	Neînregistrat
Fluid retention	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Red scaly skin caused by inflammatory skin disease	Foarte des (80–99%)
Maculopapular exanthema	Des (30–79%)
Skin rash	Uneori (5–29%)
Anaphylaxis	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Bone pain	Uneori (5–29%)
Increased susceptibility to fractures	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of connective tissue	Foarte des (80–99%)
Abnormal tissue mass	Neînregistrat
Embryonal neoplasm	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Headache	Des (30–79%)
Ataxia	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Uneori (5–29%)
Breathing difficulty	Uneori (5–29%)
Cardiorespiratory arrest	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Joint pain	Uneori (5–29%)
Muscle ache	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)
Abnormality of the ear	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent sperm in semen	Neînregistrat
Teratoma	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Large hands	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Choriocarcinoma	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Different colored eyes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Des (30–79%)

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 KIT și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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