Tunnused

Geeniga OCA2 seotud tunnused

OCA2 melanosomal transmembrane protein

Inimese fenotüübi ontoloogia seostab geeniga OCA2 141 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal retinal pigmentation	Sageli (30–79%)
Abnormality of refraction	Sageli (30–79%)
Abnormality of vision	Sageli (30–79%)
Blue eyes	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Different colored eyes	Sageli (30–79%)
Extreme sensitivity of the eyes to light	Sageli (30–79%)
Hypoplasia of the fovea	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Iris transillumination defect	Sageli (30–79%)
Light eye color	Sageli (30–79%)
Macular hypopigmentation	Sageli (30–79%)
Optic nerve misrouting	Sageli (30–79%)
Posterior staphyloma	Mõnikord (5–29%)
Close sighted	Pole registreeritud
Fundus hypopigmentation	Pole registreeritud
Outward facing eye ball	Pole registreeritud
Visual impairment	Pole registreeritud

Abnormality of head or neck

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

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Central adrenal insufficiency	Sageli (30–79%)
Central hypothyroidism	Sageli (30–79%)
Decreased circulating gonadotropin concentration	Sageli (30–79%)
Decreased circulating T4 concentration	Sageli (30–79%)
Decreased response to growth hormone stimulation test	Sageli (30–79%)
Delayed puberty	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Premature adrenarche	Sageli (30–79%)
Premature pubic hair growth	Sageli (30–79%)
Underdeveloped pituitary gland	Sageli (30–79%)
Decreased circulating inhibin B concentration	Mõnikord (5–29%)
Early onset of puberty	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Freckling	Sageli (30–79%)
Loss of hair color	Sageli (30–79%)
Patchy lightened skin	Sageli (30–79%)
White hair	Sageli (30–79%)
Absent skin pigmentation	Mõnikord (5–29%)
Basal cell carcinoma	Mõnikord (5–29%)
Cutaneous melanoma	Mõnikord (5–29%)
Squamous cell carcinoma of the skin	Mõnikord (5–29%)
Hyperpigmented nevi	Harva (1–4%)
Albinism	Pole registreeritud
Freckles in sun-exposed areas	Pole registreeritud
Red hair	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Väga sageli (80–99%)
Decreased testicular size	Sageli (30–79%)
Infertility	Sageli (30–79%)
Primary amenorrhea	Sageli (30–79%)
Small clitoris	Sageli (30–79%)
Smaller than typical growth of scrotum	Sageli (30–79%)
Underdeveloped inner lips	Sageli (30–79%)
Underdevelopment of external reproductive organs	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Sageli (30–79%)
Functional motor deficit	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Väga sageli (80–99%)
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Delayed gastric emptying	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Short foot	Sageli (30–79%)
Small hand	Sageli (30–79%)
Fluid accumulation in lower limbs	Mõnikord (5–29%)
Limitation of movement at ankles	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Väga sageli (80–99%)
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)
Small for gestational age	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Postterm pregnancy	Sageli (30–79%)
Less than 10 fetal movements in 12 hours	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Diabetes mellitus	Sageli (30–79%)
Heat intolerance	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Central apnea	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga OCA2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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