Požymiai

Su UGGT1 susiję požymiai

UDP-glucose glycoprotein glucosyltransferase 1

Žmogaus fenotipo ontologija sieja 123 požymių su UGGT1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

UGGT1

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Absent speech development	Visada
Anxiety	Visada
Attention deficit	Visada
Autism	Visada
Autism spectrum disorder	Visada
Bilateral tonic-clonic seizure with generalized onset	Visada
Cerebral palsy	Visada
Clonic seizure	Visada
Delayed motor skills	Visada
Delayed speech and language development	Visada
Difficulty sleeping	Visada
Febrile seizure (within the age range of 3 months to 6 years)	Visada
Focal impaired awareness seizure	Visada
Global developmental delay	Visada
Grand mal seizures	Visada
Intellectual disability, severe	Visada
Irritability	Visada
Jerking	Visada
Moderate global developmental delay	Visada
More active than typical	Visada
Myoclonic absence seizure	Visada
Recurrent hand flapping	Visada
Repeated seizures without recovery between them	Visada
Repetitive movements	Visada
Seizure affecting one half of brain	Visada
Self-injurious behavior	Visada
Severe global developmental delay	Visada
Tonic seizure	Visada
Tremor	Visada
Delayed ability to walk	Labai dažnai (80–99%)
Babinski sign	Dažnai (30–79%)
Brisk reflexes	Dažnai (30–79%)
Delayed CNS myelination	Dažnai (30–79%)
Gray matter heterotopia	Dažnai (30–79%)
Inability to walk	Dažnai (30–79%)
Interictal EEG abnormality	Dažnai (30–79%)
Thin corpus callosum	Dažnai (30–79%)
Epilepsy	Kartais (5–29%)
Persistent head lag	Kartais (5–29%)
Poor eye contact	Kartais (5–29%)
Toe walking	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Both sided cleft lip	Visada
Coarse facial features	Visada
Drooling	Visada
High forehead	Visada
Increased nuchal translucency	Visada
Little lower jaw	Visada
Long face	Visada
Long philtrum	Visada
Prominent nasal bridge	Visada
Prominent nose	Visada
Sloping forehead	Visada
Smooth philtrum	Visada
Thin red part of the upper lip	Visada
Triangular face	Visada
Upward slanting of the opening between the eyelids	Visada
Wide nasal bridge	Visada
Wry neck	Visada
Development of small head that was not present at birth	Labai dažnai (80–99%)
Short philtrum	Dažnai (30–79%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Visada
Aortic valve has two leaflets rather than three	Visada
Bilateral superior vena cava	Visada
Common atrium	Visada
Double outlet right ventricle	Visada
Enlarged heart	Visada
Hole in heart wall separating two lower heart chambers	Visada
Mitral atresia	Visada
Patent ductus arteriosus	Visada
Patent foramen ovale	Visada
Transposition of the great arteries	Visada
Underdeveloped aortic arch	Visada

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cat eye	Visada
Cross-eyed	Visada
Hole in the back of the eye	Visada
Optic disc coloboma	Visada
Wide-set eyes	Visada
Horizontal nystagmus	Dažnai (30–79%)
Cerebral visual impairment	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Hernia	Visada
Involuntary muscle stiffness, contraction, or spasm	Visada
Lower limb spasticity	Visada
Thoracic hemivertebrae	Visada
Elbow contracture	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Scoliosis	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of digit	Visada
Overlapping toe	Visada
Webbed fingers or toes	Visada
Knee contracture	Dažnai (30–79%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Long slender fingers	Kartais (5–29%)
Overlapping fingers	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Echogenic fetal bowel	Visada
Feet or buttocks of fetus positioned near opening of uterus	Visada
Low levels of amniotic fluid	Visada
Only one artery in umbilical cord instead of two	Visada
Short fetal thigh bone length	Visada

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Enlarged liver	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Increased hepatic echogenicity	Kartais (5–29%)
Intrahepatic bile duct dilatation	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Ambiguous external genitalia	Visada
Cystic renal dysplasia	Visada
Hydronephrosis	Visada
Undescended testes	Visada
Unilateral cryptorchidism	Visada

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Aspiration	Visada
Central apnea	Visada
Neonatal respiratory distress	Visada
Poorly developed lungs	Visada

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Cyclically decreased total neutrophil count	Visada
Low blood neutrophil count	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Hearing impairment	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Blue discoloration of the skin	Visada
Excessive hairiness	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Visada

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)

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 UGGT1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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