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FS
MCID: FRS002
MIFTS: 55
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Frasier Syndrome (FS)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Frasier Syndrome:Characteristics:Orphanet epidemiological data:59
frasier syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant somatic mutation
Miscellaneous:
phenotypic overlap with denys-drash syndrome . HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Reproductive diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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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 denys-drash syndrome and gonadoblastoma. 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 hypertension and renal insufficiency 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. 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. Wikipedia : 76 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene)... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:136680Human phenotypes related to Frasier Syndrome:59 32 (show all 19)
GenomeRNAi Phenotypes related to Frasier Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Frasier Syndrome:46
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Interventional clinical trials:
Cochrane evidence based reviews: frasier syndrome |
MalaCards organs/tissues related to Frasier Syndrome:41
Kidney,
Ovary,
Breast,
Colon,
Eye,
Liver,
Thyroid
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
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Articles related to Frasier Syndrome:(show top 50) (show all 1032)
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Genes related to Frasier Syndrome (1 elite genes):(show all 20) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Frasier Syndrome:75
ClinVar genetic disease variations for Frasier Syndrome:6 (show top 50) (show all 420)
Copy number variations for Frasier Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Frasier Syndrome.
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Cellular components related to Frasier Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Frasier Syndrome according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Frasier Syndrome according to GeneCards Suite gene sharing:
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