Traits

Traits linked to OCA2

OCA2 melanosomal transmembrane protein

The Human Phenotype Ontology links 141 traits to OCA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
EEG abnormality	매우 자주 (80–99%)
EEG with abnormally slow frequencies	매우 자주 (80–99%)
Epilepsy	매우 자주 (80–99%)
Global developmental delay	매우 자주 (80–99%)
Increased appetite	매우 자주 (80–99%)
Neurodevelopmental delay	매우 자주 (80–99%)
Ventriculomegaly	매우 자주 (80–99%)
Abnormal eating behavior	자주 (30–79%)
Abnormal speech pattern	자주 (30–79%)
Abnormal temper tantrums	자주 (30–79%)
Autism	자주 (30–79%)
Autism spectrum disorder	자주 (30–79%)
Behavioral abnormality	자주 (30–79%)
Binge and purge	자주 (30–79%)
Delayed myelination	자주 (30–79%)
Difficulty sleeping	자주 (30–79%)
Happy demeanor	자주 (30–79%)
Inappropriate laughter	자주 (30–79%)
Intellectual disability, borderline	자주 (30–79%)
Intellectual disability, mild	자주 (30–79%)
Intellectual disability, severe	자주 (30–79%)
IQ between 34 and 49	자주 (30–79%)
More active than typical	자주 (30–79%)
Obsessive-compulsive trait	자주 (30–79%)
Occipital cortical atrophy	자주 (30–79%)
Overactive lower leg reflex	자주 (30–79%)
Parietal cortical atrophy	자주 (30–79%)
Perisylvian polymicrogyria	자주 (30–79%)
Psychosis	자주 (30–79%)
Self-injurious behavior	자주 (30–79%)
Short attention span	자주 (30–79%)
Skin-picking	자주 (30–79%)
Specific learning disability	자주 (30–79%)
Speech articulation difficulties	자주 (30–79%)
Tongue thrusting	자주 (30–79%)
Underdevelopment of part of brain called corpus callosum	자주 (30–79%)
Abnormality of balance	가끔 (5–29%)
Abnormality of movement	가끔 (5–29%)
Absent speech development	가끔 (5–29%)
Ataxia	가끔 (5–29%)
Impaired temperature sensation	가끔 (5–29%)
Jerking	가끔 (5–29%)
Obstructive sleep apnea	가끔 (5–29%)
Poor speech	가끔 (5–29%)
Recurrent hand flapping	가끔 (5–29%)
Shortened sleep phase	가끔 (5–29%)
Tremor	가끔 (5–29%)
Wide based walk	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Abnormal retinal pigmentation	자주 (30–79%)
Abnormality of refraction	자주 (30–79%)
Abnormality of vision	자주 (30–79%)
Blue eyes	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Decreased clarity of vision	자주 (30–79%)
Different colored eyes	자주 (30–79%)
Extreme sensitivity of the eyes to light	자주 (30–79%)
Hypoplasia of the fovea	자주 (30–79%)
Involuntary, rapid, rhythmic eye movements	자주 (30–79%)
Iris transillumination defect	자주 (30–79%)
Light eye color	자주 (30–79%)
Macular hypopigmentation	자주 (30–79%)
Optic nerve misrouting	자주 (30–79%)
Posterior staphyloma	가끔 (5–29%)
Close sighted	기록되지 않음
Fundus hypopigmentation	기록되지 않음
Outward facing eye ball	기록되지 않음
Visual impairment	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Development of small head that was not present at birth	매우 자주 (80–99%)
Head stopped growing	매우 자주 (80–99%)
Almond shaped eyes	자주 (30–79%)
Drooling	자주 (30–79%)
Flat back of skull	자주 (30–79%)
Protruding tongue	자주 (30–79%)
White eyebrow	자주 (30–79%)
Wide mouth	자주 (30–79%)
Widely spaced teeth	자주 (30–79%)
Abnormal facial shape	가끔 (5–29%)
Big lower jaw	가끔 (5–29%)
Downturned corners of mouth	가끔 (5–29%)
Mild microcephaly	가끔 (5–29%)
Thin red part of the upper lip	가끔 (5–29%)
White eyelashes	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Central adrenal insufficiency	자주 (30–79%)
Central hypothyroidism	자주 (30–79%)
Decreased circulating gonadotropin concentration	자주 (30–79%)
Decreased circulating T4 concentration	자주 (30–79%)
Decreased response to growth hormone stimulation test	자주 (30–79%)
Delayed puberty	자주 (30–79%)
Hypogonadotropic hypogonadism	자주 (30–79%)
Premature adrenarche	자주 (30–79%)
Premature pubic hair growth	자주 (30–79%)
Underdeveloped pituitary gland	자주 (30–79%)
Decreased circulating inhibin B concentration	가끔 (5–29%)
Early onset of puberty	드물게 (1–4%)

Abnormality of the integument

Trait	나타나는 빈도
Freckling	자주 (30–79%)
Loss of hair color	자주 (30–79%)
Patchy lightened skin	자주 (30–79%)
White hair	자주 (30–79%)
Absent skin pigmentation	가끔 (5–29%)
Basal cell carcinoma	가끔 (5–29%)
Cutaneous melanoma	가끔 (5–29%)
Squamous cell carcinoma of the skin	가끔 (5–29%)
Hyperpigmented nevi	드물게 (1–4%)
Albinism	기록되지 않음
Freckles in sun-exposed areas	기록되지 않음
Red hair	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Undescended testes	매우 자주 (80–99%)
Decreased testicular size	자주 (30–79%)
Infertility	자주 (30–79%)
Primary amenorrhea	자주 (30–79%)
Small clitoris	자주 (30–79%)
Smaller than typical growth of scrotum	자주 (30–79%)
Underdeveloped inner lips	자주 (30–79%)
Underdevelopment of external reproductive organs	자주 (30–79%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Decreased muscle tone in infant	자주 (30–79%)
Functional motor deficit	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Osteopenia	가끔 (5–29%)
Osteoporosis	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties in infancy	매우 자주 (80–99%)
Constipation	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Poor suck	자주 (30–79%)
Delayed gastric emptying	가끔 (5–29%)
Poor swallowing	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Short foot	자주 (30–79%)
Small hand	자주 (30–79%)
Fluid accumulation in lower limbs	가끔 (5–29%)
Limitation of movement at ankles	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Obesity	매우 자주 (80–99%)
Faltering weight	자주 (30–79%)
Short stature	자주 (30–79%)
Small for gestational age	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Postterm pregnancy	자주 (30–79%)
Less than 10 fetal movements in 12 hours	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Diabetes mellitus	자주 (30–79%)
Heat intolerance	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Central apnea	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

The Human Phenotype Ontology, release 2026-09-01: the traits linked to OCA2 and how often each is seen. Find out more at hpo.jax.org.

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