Frasier syndrome

From Wikipedia, the free encyclopedia
Jump to: navigation, search
For the anatomical abnormality observed in 1965, see Fraser syndrome.
Frasier syndrome
Classification and external resources
OMIM 136680
DiseasesDB 32455
MeSH D052159

Frasier syndrome is a urogenital anomaly associated with the WT1 gene.[1]

It was first characterized in 1964.[2]

Presentation[edit]

Frasier syndrome presents at birth with male pseudohermaphroditism (the external genitalia have a female appearance despite an XY genotype), streak gonads and progressive glomerulonephropathy (focal segmental glomerulosclerosis). Patients are also at increased risk of genito-urinary tumors (usually gonadoblastoma).

The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Differentiating between the two syndromes can be challenging.[3]

See also[edit]

References[edit]

  1. ^ Klamt B, Koziell A, Poulat F, et al. (April 1998). "Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms". Hum. Mol. Genet. 7 (4): 709–14. doi:10.1093/hmg/7.4.709. PMID 9499425. 
  2. ^ FRASIER SD, BASHORE RA, MOSIER HD (May 1964). "GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS". J. Pediatr. 64 (5): 740–5. doi:10.1016/S0022-3476(64)80622-3. PMID 14149008. 
  3. ^ http://www.ncbi.nlm.nih.gov/omim/136680