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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
a) chronic renal failure
b) nephrotic syndrome
- no Wilms tumor
Laboratory:
- WT1 gene mutation
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
pseudohermaphroditism; indeterminate sex; gynandrism
Database Correlations
OMIM 136680
References
- OMIM :accession 136680
- UniProt :accession P19544