Trăsături

Trăsături asociate cu WT1

WT1 transcription factor

Human Phenotype Ontology asociază 189 trăsături cu WT1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Ambiguous genitalia in males	Întotdeauna
Diffuse mesangial sclerosis	Întotdeauna
Double uterus	Întotdeauna
Double vagina	Întotdeauna
Enlarged kidney	Întotdeauna
Focal segmental glomerulosclerosis	Întotdeauna
Glomerulopathy	Întotdeauna
Gonadal dysgenesis	Întotdeauna
Male pseudohermaphroditism	Întotdeauna
Nephrotic syndrome	Întotdeauna
Ovarian gonadoblastoma	Întotdeauna
Primary amenorrhea	Întotdeauna
Stage 5 chronic kidney disease	Întotdeauna
Abnormal fallopian tube morphology	Foarte des (80–99%)
Abnormal internal genitalia	Foarte des (80–99%)
Abnormal labia morphology	Foarte des (80–99%)
Abnormal scrotum morphology	Foarte des (80–99%)
Abnormal sex determination	Foarte des (80–99%)
Abnormal vagina morphology	Foarte des (80–99%)
Abnormally closed or absent vagina	Foarte des (80–99%)
Absent sperm in semen	Foarte des (80–99%)
Ambiguous external genitalia	Foarte des (80–99%)
Decreased fertility in females	Foarte des (80–99%)
Decreased testicular size	Foarte des (80–99%)
Dysplastic testis	Foarte des (80–99%)
Enlarged clitoris	Foarte des (80–99%)
Female external genitalia in individual with 46,XY karyotype	Foarte des (80–99%)
Gonadal dysgenesis with female appearance, male	Foarte des (80–99%)
Hypospadias	Foarte des (80–99%)
Kidney damage	Foarte des (80–99%)
Male infertility	Foarte des (80–99%)
Nephroblastoma	Foarte des (80–99%)
Polycystic ovaries	Foarte des (80–99%)
Short penis	Foarte des (80–99%)
Streak ovary	Foarte des (80–99%)
Underdeveloped penis	Foarte des (80–99%)
Underdeveloped vagina	Foarte des (80–99%)
Urogenital sinus anomaly	Foarte des (80–99%)
Vanishing testis	Foarte des (80–99%)
Chronic kidney disease	Des (30–79%)
Displacement of the urethral meatus	Des (30–79%)
Gonadoblastoma	Des (30–79%)
Hydrometrocolpos	Des (30–79%)
Renal failure	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Abnormal uterus morphology	Uneori (5–29%)
Abnormality of the uterus	Uneori (5–29%)
Blind vagina	Uneori (5–29%)
Crossed fused renal ectopia	Uneori (5–29%)
Ectopic testis	Uneori (5–29%)
Heart shaped uterus	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Minimal change glomerulonephritis	Uneori (5–29%)
Ovarian cancer	Uneori (5–29%)
Testicular cancer	Uneori (5–29%)
Testicular gonadoblastoma	Uneori (5–29%)
Varicocele	Uneori (5–29%)
Atypical appearance of female genitals	Neînregistrat
Gonadal tissue inappropriate for external genitalia or chromosomal sex	Neînregistrat
True hermaphroditism	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Retinal vascular tortuosity	Întotdeauna
Swollen lymph nodes	Foarte des (80–99%)
High blood pressure	Des (30–79%)
Swollen lymph nodes in center of chest	Des (30–79%)
Underdeveloped left heart	Des (30–79%)
Abnormality of the spleen	Uneori (5–29%)
Accessory spleen	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Anomalous pulmonary venous return	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Cardiac total anomalous pulmonary venous connection	Uneori (5–29%)
Common atrium	Uneori (5–29%)
Conotruncal defect	Uneori (5–29%)
Heart tip and four chambers point towards right side of body	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of aortic valve	Uneori (5–29%)
Partial anomalous pulmonary venous return	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Persistent left superior vena cava	Uneori (5–29%)
Right aortic arch	Uneori (5–29%)
Scimitar anomaly	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Transposition of the great arteries	Uneori (5–29%)
Abnormal cardiovascular system morphology	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Absent iris	Întotdeauna
Anterior subcapsular cataract	Întotdeauna
Chorioretinal hypopigmentation	Întotdeauna
Damage to outer layer of the cornea of the eye	Întotdeauna
Displaced pupil	Întotdeauna
Drooping of both upper eyelids	Întotdeauna
Hypoplasia of the fovea	Întotdeauna
Outward facing eye ball	Întotdeauna
Underdeveloped iris	Întotdeauna
Absent/small iris	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Clouding of the lens of the eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Glaucoma	Des (30–79%)
New blood vessel formation in cornea	Des (30–79%)
Visual impairment	Des (30–79%)
Ectopia lentis	Uneori (5–29%)
Macular agenesis	Uneori (5–29%)
Opacification of the corneal stroma	Neînregistrat
Optic nerve hypoplasia	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal bloating	Foarte des (80–99%)
Abdominal mass	Foarte des (80–99%)
Abdominal pain	Foarte des (80–99%)
Abnormal peritoneum morphology	Foarte des (80–99%)
Duplication of renal pelvis	Des (30–79%)
Enlarged liver	Des (30–79%)
Ileus	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Cancer of the pancreas	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Peritonitis	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased serum estradiol	Foarte des (80–99%)
Decreased serum testosterone level	Foarte des (80–99%)
Elevated circulating follicle stimulating hormone level	Foarte des (80–99%)
Elevated circulating luteinizing hormone level	Foarte des (80–99%)
Hypergonadotropic hypogonadism	Foarte des (80–99%)
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Increased circulating gonadotropin level	Foarte des (80–99%)
Delayed puberty	Des (30–79%)
Absence of secondary sex characteristics	Uneori (5–29%)
Adrenal insufficiency	Uneori (5–29%)
Primary gonadal insufficiency	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	Întotdeauna
Fluid retention	Foarte des (80–99%)
Bloody urine	Des (30–79%)
Fever	Uneori (5–29%)
Foamy urine	Uneori (5–29%)
High blood calcium levels	Uneori (5–29%)
Low albumin	Uneori (5–29%)
Small amount of blood in urine	Uneori (5–29%)
Glucose intolerance	Neînregistrat
Increased proinsulin:insulin ratio	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Neonatal respiratory distress	Întotdeauna
Absent/small lungs	Foarte des (80–99%)
Abnormal lung lobation	Des (30–79%)
Poorly developed lungs	Des (30–79%)
Pulmonary sequestration	Des (30–79%)
Congenital alveolar dysplasia	Uneori (5–29%)
Lung cancer	Uneori (5–29%)
Respiratory tract infection	Uneori (5–29%)
Breathing difficulty	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Posterolateral diaphragmatic hernia	Întotdeauna
Congenital diaphragmatic hernia	Foarte des (80–99%)
Osteoporosis	Foarte des (80–99%)
Aplasia of the left hemidiaphragm	Des (30–79%)
Aplasia of the right hemidiaphragm	Des (30–79%)
Delayed bone maturation	Uneori (5–29%)
Diaphragmatic eventration	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Des (30–79%)
Dysfunction of lateral corticospinal tracts	Uneori (5–29%)
Headache	Uneori (5–29%)
Irritability	Uneori (5–29%)
Tumors of the central nervous system	Uneori (5–29%)
Abnormality of the nervous system	Rar (1–4%)
More grooves in brain	Neînregistrat
Underdevelopment of part of brain called corpus callosum	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Eye folds	Întotdeauna
Wider-than-typical soft spot of skull	Întotdeauna
Abnormally small head	Des (30–79%)
Drooping lower lip	Des (30–79%)
Little lower jaw	Des (30–79%)
Periorbital edema	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Weight loss	Des (30–79%)
Obesity	Uneori (5–29%)
Wasting syndrome	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Foarte des (80–99%)
Cancer of connective tissue	Foarte des (80–99%)
Malignant mesothelioma	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Increased red blood cells	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Reduced von Willebrand factor activity	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Limited armpit hair	Foarte des (80–99%)
Sparse pubic hair	Foarte des (80–99%)

Abnormality of limbs

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

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Only one artery in umbilical cord instead of two	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Enlarged male breast	Foarte des (80–99%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing abnormality	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Malaise	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 WT1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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