Frasier syndrome

Pathology

• gonadoblastoma
• focal segmental glomerulosclerosis

Genetics

• autosomal dominant
• associated with mutations in WT1 gene

Clinical manifestations

• phenotypic overlap with Denys-Drash syndrome
• primary amenorrhea
• gonadal dysgenesis
• male pseudohermaphroditism
• slowly progressing nephropathy leading to renal failure in adolescence or early adulthood
  • chronic renal failure
  • nephrotic syndrome
• no Wilms tumor

Laboratory

• WT1 gene mutation

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome
• pseudohermaphroditism; indeterminate sex; gynandrism

Database

• OMIM: https://mirror.omim.org/entry/136680