Frasier syndrome

Frasier syndrome

A slowly progressing autosomal dominant nephropathy (OMIM:136680) characterised by progressive renal failure in adolescence or early adulthood due to glomerulosclerosis and male pseudohermaphroditism (overlaps with Denys-Drash syndrome, without Wilms tumor).
Molecular pathology
Defects of WTI, which encodes a transcription factor that plays an essential role in the normal development of the urogenital system, cause Frasier syndrome.