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	How often it is seen
Ambiguous genitalia in males	Always
Diffuse mesangial sclerosis	Always
Double uterus	Always
Double vagina	Always
Enlarged kidney	Always
Focal segmental glomerulosclerosis	Always
Glomerulopathy	Always
Gonadal dysgenesis	Always
Male pseudohermaphroditism	Always
Nephrotic syndrome	Always
Ovarian gonadoblastoma	Always
Primary amenorrhea	Always
Stage 5 chronic kidney disease	Always
Abnormal fallopian tube morphology	Very often (80–99%)
Abnormal internal genitalia	Very often (80–99%)
Abnormal labia morphology	Very often (80–99%)
Abnormal scrotum morphology	Very often (80–99%)
Abnormal sex determination	Very often (80–99%)
Abnormal vagina morphology	Very often (80–99%)
Abnormally closed or absent vagina	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Ambiguous external genitalia	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Dysplastic testis	Very often (80–99%)
Enlarged clitoris	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Gonadal dysgenesis with female appearance, male	Very often (80–99%)
Hypospadias	Very often (80–99%)
Kidney damage	Very often (80–99%)
Male infertility	Very often (80–99%)
Nephroblastoma	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Short penis	Very often (80–99%)
Streak ovary	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Underdeveloped vagina	Very often (80–99%)
Urogenital sinus anomaly	Very often (80–99%)
Vanishing testis	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Displacement of the urethral meatus	Often (30–79%)
Gonadoblastoma	Often (30–79%)
Hydrometrocolpos	Often (30–79%)
Renal failure	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Abnormal uterus morphology	Sometimes (5–29%)
Abnormality of the uterus	Sometimes (5–29%)
Blind vagina	Sometimes (5–29%)
Crossed fused renal ectopia	Sometimes (5–29%)
Ectopic testis	Sometimes (5–29%)
Heart shaped uterus	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)
Ovarian cancer	Sometimes (5–29%)
Testicular cancer	Sometimes (5–29%)
Testicular gonadoblastoma	Sometimes (5–29%)
Varicocele	Sometimes (5–29%)
Atypical appearance of female genitals	Not recorded
Gonadal tissue inappropriate for external genitalia or chromosomal sex	Not recorded
True hermaphroditism	Not recorded

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trait	How often it is seen
Absent iris	Always
Anterior subcapsular cataract	Always
Chorioretinal hypopigmentation	Always
Damage to outer layer of the cornea of the eye	Always
Displaced pupil	Always
Drooping of both upper eyelids	Always
Hypoplasia of the fovea	Always
Outward facing eye ball	Always
Underdeveloped iris	Always
Absent/small iris	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Glaucoma	Often (30–79%)
New blood vessel formation in cornea	Often (30–79%)
Visual impairment	Often (30–79%)
Ectopia lentis	Sometimes (5–29%)
Macular agenesis	Sometimes (5–29%)
Opacification of the corneal stroma	Not recorded
Optic nerve hypoplasia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Very often (80–99%)
Abdominal mass	Very often (80–99%)
Abdominal pain	Very often (80–99%)
Abnormal peritoneum morphology	Very often (80–99%)
Duplication of renal pelvis	Often (30–79%)
Enlarged liver	Often (30–79%)
Ileus	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Cancer of the pancreas	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Peritonitis	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Elevated circulating follicle stimulating hormone level	Very often (80–99%)
Elevated circulating luteinizing hormone level	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Delayed puberty	Often (30–79%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Adrenal insufficiency	Sometimes (5–29%)
Primary gonadal insufficiency	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always
Fluid retention	Very often (80–99%)
Bloody urine	Often (30–79%)
Fever	Sometimes (5–29%)
Foamy urine	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)
Small amount of blood in urine	Sometimes (5–29%)
Glucose intolerance	Not recorded
Increased proinsulin:insulin ratio	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Always
Absent/small lungs	Very often (80–99%)
Abnormal lung lobation	Often (30–79%)
Poorly developed lungs	Often (30–79%)
Pulmonary sequestration	Often (30–79%)
Congenital alveolar dysplasia	Sometimes (5–29%)
Lung cancer	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)
Breathing difficulty	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Posterolateral diaphragmatic hernia	Always
Congenital diaphragmatic hernia	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Aplasia of the left hemidiaphragm	Often (30–79%)
Aplasia of the right hemidiaphragm	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Diaphragmatic eventration	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Dysfunction of lateral corticospinal tracts	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)
More grooves in brain	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Wider-than-typical soft spot of skull	Always
Abnormally small head	Often (30–79%)
Drooping lower lip	Often (30–79%)
Little lower jaw	Often (30–79%)
Periorbital edema	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Weight loss	Often (30–79%)
Obesity	Sometimes (5–29%)
Wasting syndrome	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)
Cancer of connective tissue	Very often (80–99%)
Malignant mesothelioma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased red blood cells	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Reduced von Willebrand factor activity	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Asymmetric overgrowth	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Hearing abnormality	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Malaise	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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