Požymiai

Su OCA2 susiję požymiai

OCA2 melanosomal transmembrane protein

Žmogaus fenotipo ontologija sieja 141 požymį su OCA2: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the eye

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

Abnormality of head or neck

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

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Central adrenal insufficiency	Dažnai (30–79%)
Central hypothyroidism	Dažnai (30–79%)
Decreased circulating gonadotropin concentration	Dažnai (30–79%)
Decreased circulating T4 concentration	Dažnai (30–79%)
Decreased response to growth hormone stimulation test	Dažnai (30–79%)
Delayed puberty	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Premature adrenarche	Dažnai (30–79%)
Premature pubic hair growth	Dažnai (30–79%)
Underdeveloped pituitary gland	Dažnai (30–79%)
Decreased circulating inhibin B concentration	Kartais (5–29%)
Early onset of puberty	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Freckling	Dažnai (30–79%)
Loss of hair color	Dažnai (30–79%)
Patchy lightened skin	Dažnai (30–79%)
White hair	Dažnai (30–79%)
Absent skin pigmentation	Kartais (5–29%)
Basal cell carcinoma	Kartais (5–29%)
Cutaneous melanoma	Kartais (5–29%)
Squamous cell carcinoma of the skin	Kartais (5–29%)
Hyperpigmented nevi	Retai (1–4 %)
Albinism	Neužfiksuota
Freckles in sun-exposed areas	Neužfiksuota
Red hair	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Labai dažnai (80–99%)
Decreased testicular size	Dažnai (30–79%)
Infertility	Dažnai (30–79%)
Primary amenorrhea	Dažnai (30–79%)
Small clitoris	Dažnai (30–79%)
Smaller than typical growth of scrotum	Dažnai (30–79%)
Underdeveloped inner lips	Dažnai (30–79%)
Underdevelopment of external reproductive organs	Dažnai (30–79%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Dažnai (30–79%)
Functional motor deficit	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Constipation	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Delayed gastric emptying	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short foot	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Fluid accumulation in lower limbs	Kartais (5–29%)
Limitation of movement at ankles	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Small for gestational age	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Postterm pregnancy	Dažnai (30–79%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Diabetes mellitus	Dažnai (30–79%)
Heat intolerance	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Central apnea	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su OCA2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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