Frasier syndrome

Also known as: Frasier syndrome

Steroid-resistant nephropathy and 46,XY gonadal dysgenesis.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected (46,XY); Female: phenotype female; Children: yes, adolescence
Gene(s) involved: WT1

Etiology & mechanism

Splice-site WT1 variants (KTS isoform).

Gene(s) involved (1)

WT1

Symptoms & signs (5)

focal segmental glomerulosclerosisgonadoblastoma riskprimary amenorrheaproteinuriastreak gonads

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.