Kjennetegn

Kjennetegn knyttet til OCA2

OCA2 melanosomal transmembrane protein

Human Phenotype Ontology knytter 141 kjennetegn til OCA2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

OCA2

Abnormality of the nervous system

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Abnormal retinal pigmentation	Ofte (30–79 %)
Abnormality of refraction	Ofte (30–79 %)
Abnormality of vision	Ofte (30–79 %)
Blue eyes	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Decreased clarity of vision	Ofte (30–79 %)
Different colored eyes	Ofte (30–79 %)
Extreme sensitivity of the eyes to light	Ofte (30–79 %)
Hypoplasia of the fovea	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Iris transillumination defect	Ofte (30–79 %)
Light eye color	Ofte (30–79 %)
Macular hypopigmentation	Ofte (30–79 %)
Optic nerve misrouting	Ofte (30–79 %)
Posterior staphyloma	Noen ganger (5–29 %)
Close sighted	Ikke registrert
Fundus hypopigmentation	Ikke registrert
Outward facing eye ball	Ikke registrert
Visual impairment	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Development of small head that was not present at birth	Svært ofte (80–99 %)
Head stopped growing	Svært ofte (80–99 %)
Almond shaped eyes	Ofte (30–79 %)
Drooling	Ofte (30–79 %)
Flat back of skull	Ofte (30–79 %)
Protruding tongue	Ofte (30–79 %)
White eyebrow	Ofte (30–79 %)
Wide mouth	Ofte (30–79 %)
Widely spaced teeth	Ofte (30–79 %)
Abnormal facial shape	Noen ganger (5–29 %)
Big lower jaw	Noen ganger (5–29 %)
Downturned corners of mouth	Noen ganger (5–29 %)
Mild microcephaly	Noen ganger (5–29 %)
Thin red part of the upper lip	Noen ganger (5–29 %)
White eyelashes	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Central adrenal insufficiency	Ofte (30–79 %)
Central hypothyroidism	Ofte (30–79 %)
Decreased circulating gonadotropin concentration	Ofte (30–79 %)
Decreased circulating T4 concentration	Ofte (30–79 %)
Decreased response to growth hormone stimulation test	Ofte (30–79 %)
Delayed puberty	Ofte (30–79 %)
Hypogonadotropic hypogonadism	Ofte (30–79 %)
Premature adrenarche	Ofte (30–79 %)
Premature pubic hair growth	Ofte (30–79 %)
Underdeveloped pituitary gland	Ofte (30–79 %)
Decreased circulating inhibin B concentration	Noen ganger (5–29 %)
Early onset of puberty	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Freckling	Ofte (30–79 %)
Loss of hair color	Ofte (30–79 %)
Patchy lightened skin	Ofte (30–79 %)
White hair	Ofte (30–79 %)
Absent skin pigmentation	Noen ganger (5–29 %)
Basal cell carcinoma	Noen ganger (5–29 %)
Cutaneous melanoma	Noen ganger (5–29 %)
Squamous cell carcinoma of the skin	Noen ganger (5–29 %)
Hyperpigmented nevi	Sjelden (1–4%)
Albinism	Ikke registrert
Freckles in sun-exposed areas	Ikke registrert
Red hair	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Undescended testes	Svært ofte (80–99 %)
Decreased testicular size	Ofte (30–79 %)
Infertility	Ofte (30–79 %)
Primary amenorrhea	Ofte (30–79 %)
Small clitoris	Ofte (30–79 %)
Smaller than typical growth of scrotum	Ofte (30–79 %)
Underdeveloped inner lips	Ofte (30–79 %)
Underdevelopment of external reproductive organs	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Decreased muscle tone in infant	Ofte (30–79 %)
Functional motor deficit	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Abnormal formation of the hip	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Osteoporosis	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties in infancy	Svært ofte (80–99 %)
Constipation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Delayed gastric emptying	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Short foot	Ofte (30–79 %)
Small hand	Ofte (30–79 %)
Fluid accumulation in lower limbs	Noen ganger (5–29 %)
Limitation of movement at ankles	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Obesity	Svært ofte (80–99 %)
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)
Small for gestational age	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Postterm pregnancy	Ofte (30–79 %)
Less than 10 fetal movements in 12 hours	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Diabetes mellitus	Ofte (30–79 %)
Heat intolerance	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Central apnea	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til OCA2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test