Traits

Traits linked to MITF

melanocyte inducing transcription factor

The Human Phenotype Ontology links 71 traits to MITF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Blue eyes	Always
Fundus hypopigmentation	Always
Abnormal anterior chamber morphology	Very often (80–99%)
Abnormal macular morphology	Very often (80–99%)
Abnormality of the eye	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Different colored eyes	Often (30–79%)
Iris transillumination defect	Often (30–79%)
Notched pupil	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)
Hypoplastic iris stroma	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
White eyebrow	Always
White eyelashes	Always
Abnormality of the eyebrow	Very often (80–99%)
Abnormality of the nose	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Frontal bossing	Often (30–79%)
Little lower jaw	Often (30–79%)
Monobrow	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Relatively large head	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Corners of eye widely separated	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Fair skin	Always
Premature graying of hair	Always
Abnormal skin pigmentation	Very often (80–99%)
Loss of hair color	Very often (80–99%)
Mole	Very often (80–99%)
Numerous pigmented freckles	Very often (80–99%)
Patchy lightened skin	Very often (80–99%)
White part of hair above forehead	Very often (80–99%)
Abnormality of the hair	Often (30–79%)
Dry skin	Often (30–79%)
Freckling	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
Albinism	Not recorded
Cutaneous melanoma	Not recorded
Partial absent skin pigmentation	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the intestine	Very often (80–99%)
Constipation	Very often (80–99%)
Enlarged colon lacking nerve cells	Very often (80–99%)
Intestinal obstruction	Very often (80–99%)
Abdominal pain	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Stomach tumor	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Always
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Ears rotated toward back of head	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Harder, denser, fracture-prone bones	Often (30–79%)
Increased bone mineral density	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Cavum septum pellucidum	Often (30–79%)
Olfactory lobe absence	Often (30–79%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the lymphatic system	Often (30–79%)
Abnormality of lung artery	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Breast tumor	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Sometimes (5–29%)

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 MITF and how often each is seen. Find out more at hpo.jax.org.

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