Frasier Syndrome (FS)

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Disease Ontology 12 DOID:0050438 OMIM 57 136680 MeSH 44 D052159 NCIt 50 C122805 MESH via Orphanet 45 D052159

ICD10 via Orphanet 34 N04.1 UMLS via Orphanet 73 C0950122 Orphanet 59 ORPHA347 MedGen 42 C0950122 UMLS 72 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: 347DefinitionFrasier 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.EtiologyHeterozygous mutations 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 denys-drash syndrome and gonadal dysgenesis. An important gene associated with Frasier Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and ovary, and related phenotypes are glomerulopathy and male pseudohermaphroditism

Disease Ontology : ¹² An autosomal dominant disease that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.

Genetics Home Reference : ²⁵ Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.

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 : ⁷⁴ 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.

Wikipedia : ⁷⁵ 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.