Požymiai

Su YY1 susiję požymiai

YY1 transcription factor

Žmogaus fenotipo ontologija sieja 119 požymių su YY1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

YY1

Abnormality of the nervous system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Broad forehead	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Bulbous nose	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
Zygomatic flattening	Labai dažnai (80–99%)
Abnormality of the red part of the upper lip	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Fullness around the eyes	Dažnai (30–79%)
Pointed chin	Dažnai (30–79%)
Abnormal dentition	Kartais (5–29%)
Corners of eye widely separated	Kartais (5–29%)
Decreased facial muscle tone	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Epiblepharon	Kartais (5–29%)
High palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Narrowing of the tear duct	Kartais (5–29%)
Pierre-Robin sequence	Kartais (5–29%)
Sparse eyebrow	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bunion	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Increased mobility in finger joint	Kartais (5–29%)
Long fingers	Kartais (5–29%)
Partial knee cap dislocation	Kartais (5–29%)
Sydney crease	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the pancreatic islet cells	Labai dažnai (80–99%)
Feeding difficulties	Labai dažnai (80–99%)
Feeding difficulties in infancy	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Zollinger-Ellison syndrome	Dažnai (30–79%)
Birth defect in which part of esophagus did not develop	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Pituitary prolactin cell adenoma	Dažnai (30–79%)
Primary hyperparathyroidism	Dažnai (30–79%)
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Neoplasm of the adrenal gland	Kartais (5–29%)
Neuroendocrine neoplasm	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood insulin levels while fasting	Labai dažnai (80–99%)
Hyperinsulinemia	Labai dažnai (80–99%)
Hyperinsulinemic hypoglycemia	Labai dažnai (80–99%)
Nonketotic hypoglycemia	Labai dažnai (80–99%)
Recurrent low blood sugar levels	Labai dažnai (80–99%)
Low blood sugar after a meal	Dažnai (30–79%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Abnormality of vision	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Farsightedness	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Palpitations	Labai dažnai (80–99%)
Aortopulmonary collateral arteries	Kartais (5–29%)
Ebstein anomaly of the tricuspid valve	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Simple ear	Dažnai (30–79%)
Hearing abnormality	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Generalized muscle weakness	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Distal arthrogryposis	Kartais (5–29%)
Distal lower limb amyotrophy	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hydronephrosis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Ureteropelvic junction obstruction	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive sweating	Labai dažnai (80–99%)
Frontal upsweep of hair	Kartais (5–29%)
Hyperelastic skin	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Increased body weight	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Small for gestational age	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Underdeveloped breasts	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Kartais (5–29%)

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 YY1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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