Trăsături

Trăsături asociate cu YY1

YY1 transcription factor

Human Phenotype Ontology asociază 119 trăsături cu YY1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

YY1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Intellectual disability	Întotdeauna
Motor delay	Întotdeauna
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Transient global amnesia	Foarte des (80–99%)
Tremor	Foarte des (80–99%)
Behavioral abnormality	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Disturbances of consciousness	Des (30–79%)
Fluctuations in consciousness	Des (30–79%)
Increased appetite	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Abnormal cerebral white matter morphology	Uneori (5–29%)
Abnormal rapid eye movement sleep	Uneori (5–29%)
Abnormality of mental function	Uneori (5–29%)
Abnormality of pain sensation	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Coma	Uneori (5–29%)
Cortical dysplasia	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Difficulty staying or falling asleep	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Gliosis	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Severe global developmental delay	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Waddling gait	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Broad forehead	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Bulbous nose	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Abnormality of the red part of the upper lip	Des (30–79%)
Broad nasal tip	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Facial asymmetry	Des (30–79%)
Fullness around the eyes	Des (30–79%)
Pointed chin	Des (30–79%)
Abnormal dentition	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Decreased facial muscle tone	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Epiblepharon	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Narrowing of the tear duct	Uneori (5–29%)
Pierre-Robin sequence	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bunion	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Increased mobility in finger joint	Uneori (5–29%)
Long fingers	Uneori (5–29%)
Partial knee cap dislocation	Uneori (5–29%)
Sydney crease	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the pancreatic islet cells	Foarte des (80–99%)
Feeding difficulties	Foarte des (80–99%)
Feeding difficulties in infancy	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Zollinger-Ellison syndrome	Des (30–79%)
Birth defect in which part of esophagus did not develop	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Pituitary prolactin cell adenoma	Des (30–79%)
Primary hyperparathyroidism	Des (30–79%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Neoplasm of the adrenal gland	Uneori (5–29%)
Neuroendocrine neoplasm	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood insulin levels while fasting	Foarte des (80–99%)
Hyperinsulinemia	Foarte des (80–99%)
Hyperinsulinemic hypoglycemia	Foarte des (80–99%)
Nonketotic hypoglycemia	Foarte des (80–99%)
Recurrent low blood sugar levels	Foarte des (80–99%)
Low blood sugar after a meal	Des (30–79%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Abnormality of vision	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Farsightedness	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Palpitations	Foarte des (80–99%)
Aortopulmonary collateral arteries	Uneori (5–29%)
Ebstein anomaly of the tricuspid valve	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Simple ear	Des (30–79%)
Hearing abnormality	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized muscle weakness	Des (30–79%)
Low muscle tone	Des (30–79%)
Distal arthrogryposis	Uneori (5–29%)
Distal lower limb amyotrophy	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hydronephrosis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Ureteropelvic junction obstruction	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive sweating	Foarte des (80–99%)
Frontal upsweep of hair	Uneori (5–29%)
Hyperelastic skin	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Increased body weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Small for gestational age	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Underdeveloped breasts	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu YY1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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