Trăsături

Trăsături asociate cu OCA2

OCA2 melanosomal transmembrane protein

Human Phenotype Ontology asociază 141 trăsături cu OCA2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal retinal pigmentation	Des (30–79%)
Abnormality of refraction	Des (30–79%)
Abnormality of vision	Des (30–79%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Different colored eyes	Des (30–79%)
Extreme sensitivity of the eyes to light	Des (30–79%)
Hypoplasia of the fovea	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Iris transillumination defect	Des (30–79%)
Light eye color	Des (30–79%)
Macular hypopigmentation	Des (30–79%)
Optic nerve misrouting	Des (30–79%)
Posterior staphyloma	Uneori (5–29%)
Close sighted	Neînregistrat
Fundus hypopigmentation	Neînregistrat
Outward facing eye ball	Neînregistrat
Visual impairment	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Development of small head that was not present at birth	Foarte des (80–99%)
Head stopped growing	Foarte des (80–99%)
Almond shaped eyes	Des (30–79%)
Drooling	Des (30–79%)
Flat back of skull	Des (30–79%)
Protruding tongue	Des (30–79%)
White eyebrow	Des (30–79%)
Wide mouth	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Mild microcephaly	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
White eyelashes	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Central adrenal insufficiency	Des (30–79%)
Central hypothyroidism	Des (30–79%)
Decreased circulating gonadotropin concentration	Des (30–79%)
Decreased circulating T4 concentration	Des (30–79%)
Decreased response to growth hormone stimulation test	Des (30–79%)
Delayed puberty	Des (30–79%)
Hypogonadotropic hypogonadism	Des (30–79%)
Premature adrenarche	Des (30–79%)
Premature pubic hair growth	Des (30–79%)
Underdeveloped pituitary gland	Des (30–79%)
Decreased circulating inhibin B concentration	Uneori (5–29%)
Early onset of puberty	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Freckling	Des (30–79%)
Loss of hair color	Des (30–79%)
Patchy lightened skin	Des (30–79%)
White hair	Des (30–79%)
Absent skin pigmentation	Uneori (5–29%)
Basal cell carcinoma	Uneori (5–29%)
Cutaneous melanoma	Uneori (5–29%)
Squamous cell carcinoma of the skin	Uneori (5–29%)
Hyperpigmented nevi	Rar (1–4%)
Albinism	Neînregistrat
Freckles in sun-exposed areas	Neînregistrat
Red hair	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Foarte des (80–99%)
Decreased testicular size	Des (30–79%)
Infertility	Des (30–79%)
Primary amenorrhea	Des (30–79%)
Small clitoris	Des (30–79%)
Smaller than typical growth of scrotum	Des (30–79%)
Underdeveloped inner lips	Des (30–79%)
Underdevelopment of external reproductive organs	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Functional motor deficit	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Poor suck	Des (30–79%)
Delayed gastric emptying	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short foot	Des (30–79%)
Small hand	Des (30–79%)
Fluid accumulation in lower limbs	Uneori (5–29%)
Limitation of movement at ankles	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)
Small for gestational age	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Postterm pregnancy	Des (30–79%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Diabetes mellitus	Des (30–79%)
Heat intolerance	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Central apnea	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu OCA2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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