Požymiai

Su WT1 susiję požymiai

WT1 transcription factor

Žmogaus fenotipo ontologija sieja 189 požymių su WT1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the genitourinary system

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

Abnormality of the cardiovascular system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Absent iris	Visada
Anterior subcapsular cataract	Visada
Chorioretinal hypopigmentation	Visada
Damage to outer layer of the cornea of the eye	Visada
Displaced pupil	Visada
Drooping of both upper eyelids	Visada
Hypoplasia of the fovea	Visada
Outward facing eye ball	Visada
Underdeveloped iris	Visada
Absent/small iris	Labai dažnai (80–99%)
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Clouding of the lens of the eye	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Glaucoma	Dažnai (30–79%)
New blood vessel formation in cornea	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Ectopia lentis	Kartais (5–29%)
Macular agenesis	Kartais (5–29%)
Opacification of the corneal stroma	Neužfiksuota
Optic nerve hypoplasia	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal bloating	Labai dažnai (80–99%)
Abdominal mass	Labai dažnai (80–99%)
Abdominal pain	Labai dažnai (80–99%)
Abnormal peritoneum morphology	Labai dažnai (80–99%)
Duplication of renal pelvis	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Ileus	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Cancer of the pancreas	Kartais (5–29%)
Liver cancer	Kartais (5–29%)
Peritonitis	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased serum estradiol	Labai dažnai (80–99%)
Decreased serum testosterone level	Labai dažnai (80–99%)
Elevated circulating follicle stimulating hormone level	Labai dažnai (80–99%)
Elevated circulating luteinizing hormone level	Labai dažnai (80–99%)
Hypergonadotropic hypogonadism	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Increased circulating gonadotropin level	Labai dažnai (80–99%)
Delayed puberty	Dažnai (30–79%)
Absence of secondary sex characteristics	Kartais (5–29%)
Adrenal insufficiency	Kartais (5–29%)
Primary gonadal insufficiency	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High urine protein levels	Visada
Fluid retention	Labai dažnai (80–99%)
Bloody urine	Dažnai (30–79%)
Fever	Kartais (5–29%)
Foamy urine	Kartais (5–29%)
High blood calcium levels	Kartais (5–29%)
Low albumin	Kartais (5–29%)
Small amount of blood in urine	Kartais (5–29%)
Glucose intolerance	Neužfiksuota
Increased proinsulin:insulin ratio	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Neonatal respiratory distress	Visada
Absent/small lungs	Labai dažnai (80–99%)
Abnormal lung lobation	Dažnai (30–79%)
Poorly developed lungs	Dažnai (30–79%)
Pulmonary sequestration	Dažnai (30–79%)
Congenital alveolar dysplasia	Kartais (5–29%)
Lung cancer	Kartais (5–29%)
Respiratory tract infection	Kartais (5–29%)
Breathing difficulty	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Posterolateral diaphragmatic hernia	Visada
Congenital diaphragmatic hernia	Labai dažnai (80–99%)
Osteoporosis	Labai dažnai (80–99%)
Aplasia of the left hemidiaphragm	Dažnai (30–79%)
Aplasia of the right hemidiaphragm	Dažnai (30–79%)
Delayed bone maturation	Kartais (5–29%)
Diaphragmatic eventration	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Dažnai (30–79%)
Dysfunction of lateral corticospinal tracts	Kartais (5–29%)
Headache	Kartais (5–29%)
Irritability	Kartais (5–29%)
Tumors of the central nervous system	Kartais (5–29%)
Abnormality of the nervous system	Retai (1–4 %)
More grooves in brain	Neužfiksuota
Underdevelopment of part of brain called corpus callosum	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Eye folds	Visada
Wider-than-typical soft spot of skull	Visada
Abnormally small head	Dažnai (30–79%)
Drooping lower lip	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Periorbital edema	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Obesity	Kartais (5–29%)
Wasting syndrome	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Labai dažnai (80–99%)
Cancer of connective tissue	Labai dažnai (80–99%)
Malignant mesothelioma	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Increased red blood cells	Kartais (5–29%)
Low number of red blood cells or hemoglobin	Kartais (5–29%)
Reduced von Willebrand factor activity	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Limited armpit hair	Labai dažnai (80–99%)
Sparse pubic hair	Labai dažnai (80–99%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Asymmetric overgrowth	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Only one artery in umbilical cord instead of two	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Enlarged male breast	Labai dažnai (80–99%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing abnormality	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Malaise	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 WT1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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