Tunnused

Geeniga UBE3A seotud tunnused

ubiquitin protein ligase E3A

Inimese fenotüübi ontoloogia seostab geeniga UBE3A 96 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Ataxia	Alati
Delayed ability to walk	Alati
EEG abnormality	Alati
Global developmental delay	Alati
Happy demeanor	Alati
Intellectual disability, severe	Alati
Motor delay	Alati
Attention deficit	Väga sageli (80–99%)
Clumsiness	Väga sageli (80–99%)
Delayed speech and language development	Väga sageli (80–99%)
EEG with abnormally slow frequencies	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Neurodevelopmental delay	Väga sageli (80–99%)
Obsessive compulsive behavior	Väga sageli (80–99%)
Sleep-wake cycle disturbance	Väga sageli (80–99%)
Wide based walk	Väga sageli (80–99%)
Abnormal eating behavior	Sageli (30–79%)
Abnormal speech pattern	Sageli (30–79%)
Apraxia	Sageli (30–79%)
Autism	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Delayed myelination	Sageli (30–79%)
Inappropriate laughter	Sageli (30–79%)
Increased appetite	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
More active than typical	Sageli (30–79%)
Overactive lower leg reflex	Sageli (30–79%)
Poor speech	Sageli (30–79%)
Short attention span	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%)
Atypical absence seizure	Mõnikord (5–29%)
Behavioral abnormality	Mõnikord (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Mõnikord (5–29%)
Brain imaging abnormality	Mõnikord (5–29%)
EEG with focal epileptiform discharges	Mõnikord (5–29%)
Grand mal seizures	Mõnikord (5–29%)
Hyperorality	Mõnikord (5–29%)
Jerking	Mõnikord (5–29%)
Recurrent hand flapping	Mõnikord (5–29%)
Shortened sleep phase	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Pole registreeritud
Increased reflexes	Pole registreeritud
Limb tremor	Pole registreeritud
Paroxysmal bursts of laughter	Pole registreeritud
Progressive gait ataxia	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Development of small head that was not present at birth	Alati
Head stopped growing	Väga sageli (80–99%)
Abnormal facial shape	Sageli (30–79%)
Drooling	Sageli (30–79%)
Flat back of skull	Sageli (30–79%)
Mild microcephaly	Sageli (30–79%)
Protruding tongue	Sageli (30–79%)
Wide mouth	Sageli (30–79%)
Widely spaced teeth	Sageli (30–79%)
Big calvaria	Mõnikord (5–29%)
Big lower jaw	Mõnikord (5–29%)
Downward slanting of the opening between the eyelids	Mõnikord (5–29%)
Expressionless face	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Abnormally large tongue	Pole registreeritud
Broad head shape	Pole registreeritud
Decreased size of maxilla	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Sageli (30–79%)
Light eye color	Sageli (30–79%)
Blue eyes	Pole registreeritud
Close sighted	Pole registreeritud
Deeply set eye	Pole registreeritud
Involuntary, rapid, rhythmic eye movements	Pole registreeritud
Outward facing eye ball	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
Decreased muscle tone in infant	Sageli (30–79%)
Functional motor deficit	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Double-Jointed	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of little finger	Sageli (30–79%)
Finger syndactyly	Mõnikord (5–29%)
Limitation of movement at ankles	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Loss of hair color	Sageli (30–79%)
Patchy lightened skin	Sageli (30–79%)
Fair hair	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Sageli (30–79%)
Short stature	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Heat intolerance	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 UBE3A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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