Traits

Traits linked to WT1

WT1 transcription factor

The Human Phenotype Ontology links 189 traits to WT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

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

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Absent iris	Alati
Anterior subcapsular cataract	Alati
Chorioretinal hypopigmentation	Alati
Damage to outer layer of the cornea of the eye	Alati
Displaced pupil	Alati
Drooping of both upper eyelids	Alati
Hypoplasia of the fovea	Alati
Outward facing eye ball	Alati
Underdeveloped iris	Alati
Absent/small iris	Väga sageli (80–99%)
Involuntary, rapid, rhythmic eye movements	Väga sageli (80–99%)
Clouding of the lens of the eye	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
New blood vessel formation in cornea	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Ectopia lentis	Mõnikord (5–29%)
Macular agenesis	Mõnikord (5–29%)
Opacification of the corneal stroma	Pole registreeritud
Optic nerve hypoplasia	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Abdominal bloating	Väga sageli (80–99%)
Abdominal mass	Väga sageli (80–99%)
Abdominal pain	Väga sageli (80–99%)
Abnormal peritoneum morphology	Väga sageli (80–99%)
Duplication of renal pelvis	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Ileus	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Accumulation of fluid in the abdomen	Mõnikord (5–29%)
Cancer of the pancreas	Mõnikord (5–29%)
Liver cancer	Mõnikord (5–29%)
Peritonitis	Harva (1–4%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased serum estradiol	Väga sageli (80–99%)
Decreased serum testosterone level	Väga sageli (80–99%)
Elevated circulating follicle stimulating hormone level	Väga sageli (80–99%)
Elevated circulating luteinizing hormone level	Väga sageli (80–99%)
Hypergonadotropic hypogonadism	Väga sageli (80–99%)
Hypogonadotropic hypogonadism	Väga sageli (80–99%)
Increased circulating gonadotropin level	Väga sageli (80–99%)
Delayed puberty	Sageli (30–79%)
Absence of secondary sex characteristics	Mõnikord (5–29%)
Adrenal insufficiency	Mõnikord (5–29%)
Primary gonadal insufficiency	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
High urine protein levels	Alati
Fluid retention	Väga sageli (80–99%)
Bloody urine	Sageli (30–79%)
Fever	Mõnikord (5–29%)
Foamy urine	Mõnikord (5–29%)
High blood calcium levels	Mõnikord (5–29%)
Low albumin	Mõnikord (5–29%)
Small amount of blood in urine	Mõnikord (5–29%)
Glucose intolerance	Pole registreeritud
Increased proinsulin:insulin ratio	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Neonatal respiratory distress	Alati
Absent/small lungs	Väga sageli (80–99%)
Abnormal lung lobation	Sageli (30–79%)
Poorly developed lungs	Sageli (30–79%)
Pulmonary sequestration	Sageli (30–79%)
Congenital alveolar dysplasia	Mõnikord (5–29%)
Lung cancer	Mõnikord (5–29%)
Respiratory tract infection	Mõnikord (5–29%)
Breathing difficulty	Harva (1–4%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Posterolateral diaphragmatic hernia	Alati
Congenital diaphragmatic hernia	Väga sageli (80–99%)
Osteoporosis	Väga sageli (80–99%)
Aplasia of the left hemidiaphragm	Sageli (30–79%)
Aplasia of the right hemidiaphragm	Sageli (30–79%)
Delayed bone maturation	Mõnikord (5–29%)
Diaphragmatic eventration	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Intellectual disability	Sageli (30–79%)
Dysfunction of lateral corticospinal tracts	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Irritability	Mõnikord (5–29%)
Tumors of the central nervous system	Mõnikord (5–29%)
Abnormality of the nervous system	Harva (1–4%)
More grooves in brain	Pole registreeritud
Underdevelopment of part of brain called corpus callosum	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Eye folds	Alati
Wider-than-typical soft spot of skull	Alati
Abnormally small head	Sageli (30–79%)
Drooping lower lip	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Periorbital edema	Sageli (30–79%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Obesity	Mõnikord (5–29%)
Wasting syndrome	Mõnikord (5–29%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Abnormal tissue mass	Väga sageli (80–99%)
Cancer of connective tissue	Väga sageli (80–99%)
Malignant mesothelioma	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Increased red blood cells	Mõnikord (5–29%)
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Reduced von Willebrand factor activity	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Limited armpit hair	Väga sageli (80–99%)
Sparse pubic hair	Väga sageli (80–99%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Asymmetric overgrowth	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Only one artery in umbilical cord instead of two	Mõnikord (5–29%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Enlarged male breast	Väga sageli (80–99%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Hearing abnormality	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Malaise	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

The Human Phenotype Ontology, release 2026-09-01: the traits linked to WT1 and how often each is seen. Find out more at hpo.jax.org.

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