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

Abnormality of the eye

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

Abnormality of head or neck

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

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Central adrenal insufficiency	Usein (30–79%)
Central hypothyroidism	Usein (30–79%)
Decreased circulating gonadotropin concentration	Usein (30–79%)
Decreased circulating T4 concentration	Usein (30–79%)
Decreased response to growth hormone stimulation test	Usein (30–79%)
Delayed puberty	Usein (30–79%)
Hypogonadotropic hypogonadism	Usein (30–79%)
Premature adrenarche	Usein (30–79%)
Premature pubic hair growth	Usein (30–79%)
Underdeveloped pituitary gland	Usein (30–79%)
Decreased circulating inhibin B concentration	Joskus (5–29%)
Early onset of puberty	Harvinainen (1–4 %)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Freckling	Usein (30–79%)
Loss of hair color	Usein (30–79%)
Patchy lightened skin	Usein (30–79%)
White hair	Usein (30–79%)
Absent skin pigmentation	Joskus (5–29%)
Basal cell carcinoma	Joskus (5–29%)
Cutaneous melanoma	Joskus (5–29%)
Squamous cell carcinoma of the skin	Joskus (5–29%)
Hyperpigmented nevi	Harvinainen (1–4 %)
Albinism	Ei kirjattu
Freckles in sun-exposed areas	Ei kirjattu
Red hair	Ei kirjattu

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Undescended testes	Hyvin usein (80–99%)
Decreased testicular size	Usein (30–79%)
Infertility	Usein (30–79%)
Primary amenorrhea	Usein (30–79%)
Small clitoris	Usein (30–79%)
Smaller than typical growth of scrotum	Usein (30–79%)
Underdeveloped inner lips	Usein (30–79%)
Underdevelopment of external reproductive organs	Usein (30–79%)

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Decreased muscle tone in infant	Usein (30–79%)
Functional motor deficit	Usein (30–79%)
Low muscle tone	Usein (30–79%)
Scoliosis	Usein (30–79%)
Abnormal formation of the hip	Joskus (5–29%)
Osteopenia	Joskus (5–29%)
Osteoporosis	Joskus (5–29%)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Feeding difficulties in infancy	Hyvin usein (80–99%)
Constipation	Usein (30–79%)
Feeding difficulties	Usein (30–79%)
Poor suck	Usein (30–79%)
Delayed gastric emptying	Joskus (5–29%)
Poor swallowing	Joskus (5–29%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Short foot	Usein (30–79%)
Small hand	Usein (30–79%)
Fluid accumulation in lower limbs	Joskus (5–29%)
Limitation of movement at ankles	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Obesity	Hyvin usein (80–99%)
Faltering weight	Usein (30–79%)
Short stature	Usein (30–79%)
Small for gestational age	Joskus (5–29%)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
Postterm pregnancy	Usein (30–79%)
Less than 10 fetal movements in 12 hours	Joskus (5–29%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Diabetes mellitus	Usein (30–79%)
Heat intolerance	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Recurrent respiratory infections	Usein (30–79%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Central apnea	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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