Traits

Traits linked to KIT

KIT proto-oncogene, receptor tyrosine kinase

The Human Phenotype Ontology links 118 traits to KIT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Very often (80–99%)
Abnormal skin pigmentation	Very often (80–99%)
Itching	Very often (80–99%)
Loss of hair color	Very often (80–99%)
Piebald skin depigmentation	Very often (80–99%)
White part of hair above forehead	Very often (80–99%)
Erythematous papule	Often (30–79%)
Flat, discolored area of skin	Often (30–79%)
Hyperpigmented papule	Often (30–79%)
Hyperpigmented skin patches	Often (30–79%)
Paleness	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
Skin nodule	Often (30–79%)
Skin plaque	Often (30–79%)
Flushing	Sometimes (5–29%)
Irregular hyperpigmentation	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Scaling skin	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Skin erosion	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)
Absent pigmentation of the ventral chest	Not recorded
Neurofibroma	Not recorded
Partial absent skin pigmentation	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal mast cell morphology	Very often (80–99%)
Blood tumor	Very often (80–99%)
Cutaneous mastocytosis	Very often (80–99%)
Myeloid leukemia	Very often (80–99%)
Bone marrow hypercellularity	Often (30–79%)
Elevated white blood count	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
High blood eosinophil count	Often (30–79%)
Low platelet count	Often (30–79%)
Myeloproliferative disorder	Often (30–79%)
Normochromic anemia	Often (30–79%)
Normocytic anemia	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Chronic myelomonocytic leukemia	Sometimes (5–29%)
Granulocytic hyperplasia	Sometimes (5–29%)
Increased blood neutrophil counts	Sometimes (5–29%)
Increased total basophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Chronic lymphatic leukemia	Rarely (1–4%)
Multiple myeloma	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrointestinal stroma tumor	Very often (80–99%)
Stomach tumor	Very often (80–99%)
Constipation	Often (30–79%)
Diarrhea	Often (30–79%)
Intestinal obstruction	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Poor swallowing	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Abnormality of the liver	Sometimes (5–29%)
Colon tumor	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Esophageal tumor	Sometimes (5–29%)
Gastrointestinal tract tumor	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Rectal tumor	Sometimes (5–29%)
Small intestine tumor	Sometimes (5–29%)
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Darier's sign	Very often (80–99%)
Hives	Very often (80–99%)
Elevated heart rate	Sometimes (5–29%)
Fainting spell	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Low blood pressure	Sometimes (5–29%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Telangiectasia of the skin	Sometimes (5–29%)
Skin writing	Rarely (1–4%)
Telangiectasia macularis eruptiva perstans	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
White eyebrow	Often (30–79%)
White eyelashes	Often (30–79%)
Abnormality of cranium	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated total serum tryptase	Very often (80–99%)
Fever	Often (30–79%)
Peau d'orange	Often (30–79%)
Amyloid deposition	Rarely (1–4%)
Angioedema	Rarely (1–4%)
Elevated circulating alpha-fetoprotein concentration	Not recorded
Fluid retention	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Maculopapular exanthema	Often (30–79%)
Skin rash	Sometimes (5–29%)
Anaphylaxis	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Sometimes (5–29%)
Increased susceptibility to fractures	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of connective tissue	Very often (80–99%)
Abnormal tissue mass	Not recorded
Embryonal neoplasm	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Often (30–79%)
Ataxia	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)
Breathing difficulty	Sometimes (5–29%)
Cardiorespiratory arrest	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Joint pain	Sometimes (5–29%)
Muscle ache	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Abnormality of the ear	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent sperm in semen	Not recorded
Teratoma	Not recorded

Abnormality of limbs

Trait	How often it is seen
Large hands	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Choriocarcinoma	Not recorded

Abnormality of the eye

Trait	How often it is seen
Different colored eyes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KIT and how often each is seen. Find out more at hpo.jax.org.

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