Tunnused

Geeniga UGGT1 seotud tunnused

UDP-glucose glycoprotein glucosyltransferase 1

Inimese fenotüübi ontoloogia seostab geeniga UGGT1 123 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

UGGT1

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Both sided cleft lip	Alati
Coarse facial features	Alati
Drooling	Alati
High forehead	Alati
Increased nuchal translucency	Alati
Little lower jaw	Alati
Long face	Alati
Long philtrum	Alati
Prominent nasal bridge	Alati
Prominent nose	Alati
Sloping forehead	Alati
Smooth philtrum	Alati
Thin red part of the upper lip	Alati
Triangular face	Alati
Upward slanting of the opening between the eyelids	Alati
Wide nasal bridge	Alati
Wry neck	Alati
Development of small head that was not present at birth	Väga sageli (80–99%)
Short philtrum	Sageli (30–79%)

Abnormality of the cardiovascular system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cat eye	Alati
Cross-eyed	Alati
Hole in the back of the eye	Alati
Optic disc coloboma	Alati
Wide-set eyes	Alati
Horizontal nystagmus	Sageli (30–79%)
Cerebral visual impairment	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Hernia	Alati
Involuntary muscle stiffness, contraction, or spasm	Alati
Lower limb spasticity	Alati
Thoracic hemivertebrae	Alati
Elbow contracture	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Scoliosis	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of digit	Alati
Overlapping toe	Alati
Webbed fingers or toes	Alati
Knee contracture	Sageli (30–79%)
Gap between 1st and 2nd toes	Mõnikord (5–29%)
Long slender fingers	Mõnikord (5–29%)
Overlapping fingers	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Echogenic fetal bowel	Alati
Feet or buttocks of fetus positioned near opening of uterus	Alati
Low levels of amniotic fluid	Alati
Only one artery in umbilical cord instead of two	Alati
Short fetal thigh bone length	Alati

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Enlarged liver	Mõnikord (5–29%)
Hepatic fibrosis	Mõnikord (5–29%)
Increased hepatic echogenicity	Mõnikord (5–29%)
Intrahepatic bile duct dilatation	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Ambiguous external genitalia	Alati
Cystic renal dysplasia	Alati
Hydronephrosis	Alati
Undescended testes	Alati
Unilateral cryptorchidism	Alati

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Aspiration	Alati
Central apnea	Alati
Neonatal respiratory distress	Alati
Poorly developed lungs	Alati

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Cyclically decreased total neutrophil count	Alati
Low blood neutrophil count	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati
Hearing impairment	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Blue discoloration of the skin	Alati
Excessive hairiness	Alati

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)

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 UGGT1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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