Trăsături

Trăsături asociate cu BUB1

BUB1 mitotic checkpoint serine/threonine kinase

Human Phenotype Ontology asociază 83 trăsături cu BUB1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

BUB1

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Small head present at birth	Întotdeauna
Dandy-Walker malformation	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Increased nuchal translucency	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Broad opening between the eyelids	Des (30–79%)
Cleft soft palate	Des (30–79%)
Narrowing of the rear opening of the nasal cavity	Des (30–79%)
Pierre-Robin sequence	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Triangular face	Des (30–79%)
Abnormality of the skull	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Flat nose	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High forehead	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Wide nose	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Accumulation of fluid in the abdomen	Foarte des (80–99%)
Inguinal hernia	Des (30–79%)
Absence or narrowing of first part of small bowel	Uneori (5–29%)
Colon cancer	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Stomach cancer	Uneori (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Stomach tumor	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Decrease in size of the outer layer of the brain due to loss of brain cells	Întotdeauna
Intellectual disability	Întotdeauna
Ventriculomegaly	Întotdeauna
Global developmental delay	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Secundum atrial septal defect	Întotdeauna
Abnormal aortic morphology	Uneori (5–29%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic regurgitation	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of blood vessel below aortic heart valve	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Ambiguous external genitalia	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Nephroblastoma	Uneori (5–29%)
Vaginal tumor	Uneori (5–29%)
Cancer starting in small tubes in kidneys	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Foarte des (80–99%)
Clouding of the lens of the eye	Foarte des (80–99%)
Corneal opacity	Foarte des (80–99%)
Glaucoma	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscular dystrophy	Foarte des (80–99%)
Abnormality of the skeletal system	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Rhabdomyosarcoma	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Birthmark	Des (30–79%)
Darkened and thickened skin	Des (30–79%)
Abnormal skin pigmentation	Uneori (5–29%)
Multiple birthmarks	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Uplifted earlobe	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Narrowing of windpipe	Întotdeauna
Abnormal lung lobation	Uneori (5–29%)
Apnea	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)
Growth delay	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Acute lymphoblastic leukemia	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Des (30–79%)
Abnormality of the upper limb	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)
Fetal distress	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Uneori (5–29%)

Abnormality of the endocrine system

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

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of immune system physiology	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 BUB1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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