Frasier Syndrome

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OMIM 57 136680 Disease Ontology 12 DOID:0050438 MeSH 44 D052159 NCIt 50 C122805 SNOMED-CT 68 445431000 Orphanet 59 ORPHA347

MESH via Orphanet 45 D052159 UMLS via Orphanet 74 C0950122 ICD10 via Orphanet 34 N04.1 MedGen 42 C0950122 SNOMED-CT via HPO 69 263681008 111332007 236423003 42399005 29738008 236403004 25821008 52254009 205681004 38804009 83579008 95219002 716594002 74751003 8913004 370999003 24184005 38341003 124975008 25081006 302849000 433146000 166449002 70550008 197679002 more UMLS 73 C0950122

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 347Disease definitionFrasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.EpidemiologyPrevalence of this rare disease is unknown.Clinical descriptionPatients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood.EtiologyHeterozygousmutations in the WT1 gene have been found in women affected by Frasier syndrome. The WT1 gene contains 10 exons and codes for a zinc-finger DNA-binding protein. This protein plays an important role in renal and gonadal development. Mutations responsible for Frasier syndrome are located in intron 9, an alternative splicing site, and lead to the loss or haploinsufficiency of the WT1+KTS isoform, a transcription factor.Diagnostic methodsHistologically, glomerular lesions are not specific. They consist of minimal glomerular lesions associated with segmental and focal glomerular hyalinosis. In women, the diagnosis may be made during investigation for primary amenorrhea, or, in some cases, after renal transplant when nephropathy has progressed to renal failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Frasier Syndrome, also known as fs, is related to gonadoblastoma and denys-drash syndrome. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include Kidney, kidney and ovary, and related phenotypes are ambiguous genitalia, male and male pseudohermaphroditism

OMIM : ⁵⁷ Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997). (136680)

UniProtKB/Swiss-Prot : ⁷⁵ Frasier syndrome: Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant.

Genetics Home Reference : ²⁵ Frasier syndrome is a condition that affects the kidneys and genitalia.

Wikipedia : ⁷⁶ Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene)... more...

Clinical features from OMIM:

136680

Search NIH Clinical Center for Frasier Syndrome

Search GEO for disease gene expression data for Frasier Syndrome.