FS
MCID: FRS002
MIFTS: 55

Frasier Syndrome (FS) malady

Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Summaries for Frasier Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Frasier syndrome is a urogenital anomaly associated with the WT1 gene. more...

MalaCards: Frasier Syndrome, also known as FS, is related to gonadoblastoma and gonadal dysgenesis, and has symptoms including proteinuria, late puberty/hypogonadism/hypogenitalism and renal failure. An important gene associated with Frasier Syndrome is WT1 (Wilms tumor 1), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell-cell junction organization. The compounds deoxyribonucleic acid and dmrt have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Genetics Home Reference:21 Frasier syndrome is a condition that affects the kidneys and genitalia.

Description from OMIM:46 136680

Aliases & Classifications for Frasier Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

frasier syndrome 8 9 42 20 22 21 46 10 44 48 60
fs 21


External Ids:

Disease Ontology8 DOID:0050438
MeSH34 D052159
OMIM46 136680
SNOMED-CT via Orphanet57 445431000
UMLS via Orphanet61 C0950122
MESH via Orphanet35 D052159
ICD10 via Orphanet26 N04.1

Related Diseases for Frasier Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Frasier Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1gonadoblastoma30.6SRY, WT1
2gonadal dysgenesis30.5WT1, SRY, SOX9
3denys-drash syndrome30.4ZNF274, MECOM, WT1, KLF10
4amenorrhea30.0SRY
5focal segmental glomerulosclerosis30.0WT1, NPHS2, CD2AP, ACTN4
6proteinuria30.0CD2AP, WT1, ACTN4, NPHS2
7dermatofibrosarcoma10.1
8meningitis10.1
9myopia10.1
10alport syndrome10.0
11nephronophthisis10.0
12sertoli cell tumor10.0
13end stage renal failure10.0
1446 xy gonadal dysgenesis10.0
15focal glomerulosclerosis10.0
16astrocytoma10.0
17seminoma10.0
18sertoli-leydig cell tumor10.0WT1
19primary hyperoxaluria10.0WT1
20dysgerminoma10.0WT1, SRY
21hypospadias10.0SRY, WT1
22swyer syndrome10.0SOX9, SRY
23diffuse mesangial sclerosis10.0WT1, NPHS2
24campomelic dysplasia10.0SRY, SOX9
25pseudohermaphroditism10.0WT1, SRY
26ovarian cancer10.0MECOM
27pallister-hall syndrome10.0KLF10, MECOM
28nephrosis10.0NPHS2, ACTN4
29nephroblastoma10.0MECOM, WT1, KLF10
30lipoid nephrosis10.0NPHS2, CD2AP
31nail-patella syndrome10.0CD2AP, NPHS2
32membranous glomerulonephritis10.0NPHS2, CD2AP
33chronic kidney failure10.0ACTN4, WT1, NPHS2
34iga glomerulonephritis10.0CD2AP, NPHS2
35glomerulonephritis10.0CD2AP, ACTN4, NPHS2
36nephrotic syndrome10.0ACTN4, WT1, NPHS2, CD2AP
37wilms tumor10.0NPHS2, SRY, SOX9, WT1, ACTN4, CD2AP
38retinitis pigmentosa9.9
39fanconi syndrome9.9
40astigmatism9.9
41atherosclerosis9.9
42chondromalacia9.9
43hepatitis9.9
44retinitis9.9
45mitochondrial dna deletion syndromes9.9
46pemphigus and fogo selvagem9.9
47feingold syndrome9.9

Graphical network of the top 20 diseases related to Frasier Syndrome:



Diseases related to frasier syndrome

Clinical Features for Frasier Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

136680

Clinical synopsis from OMIM:

136680

Symptoms:

48 (show all 7)
  • proteinuria
  • late puberty/hypogonadism/hypogenitalism
  • renal failure
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • male pseudohermaphrodism/lack of virilisation
  • primary amenorrhea

Drugs & Therapeutics for Frasier Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Frasier Syndrome

Drug clinical trials:

Search ClinicalTrials for Frasier Syndrome

Search NIH Clinical Center for Frasier Syndrome

Search CenterWatch for Frasier Syndrome

Genetic Tests for Frasier Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Frasier Syndrome:

id Genetic test Affiliating Genes
1 Frasier Syndrome20 22 WT1

Anatomical Context for Frasier Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Frasier Syndrome:

32
Kidney

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Potential therapeutic candidate, affected by disease

Animal Models for Frasier Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Frasier Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4SOX9, WT1, NPHS2, CD2AP, ACTN4
2MP:00053798.1LHX9, SOX9, WT1, ZNF274, SRY
3MP:00053897.6SRY, ZNF274, MECOM, WT1, LHX9, SOX9
4MP:00053857.5CD2AP, MECOM, NPHS2, WT1, SOX9, ACTN4
5MP:00053767.1CD2AP, MECOM, NPHS2, WT1, SOX9, LHX9
6MP:00053786.9ACTN4, ZNF274, CD2AP, MECOM, NPHS2, WT1
7MP:00107686.8WT1, NPHS2, MECOM, SOX9, SRY, ACTN4
8MP:00053846.7KLF10, ZNF274, CD2AP, ACTN4, MECOM, WT1

Publications for Frasier Syndrome

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50PubMed
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Articles related to Frasier Syndrome:

(show all 43)
idTitleAuthorsYear
1
Proteinuria in Frasier syndrome. (24364235)
2013
2
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C&gt;T mutation. (22908070)
2012
3
Frasier syndrome: four new cases with unusual presentations. (23295293)
2012
4
Frasier syndrome in 17-year-old girl--case report. (21853939)
2011
5
Recurrence of a dysgerminoma in Frasier syndrome. (20408995)
2011
6
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
7
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. (20497763)
2010
8
Frasier syndrome, a potential cause of end-stage renal failure in childhood. (19921279)
2010
9
WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. (19711733)
2009
10
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
11
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. (18271004)
2008
12
Expanding the clinical spectrum of Frasier syndrome. (17378674)
2008
13
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. (17694336)
2007
14
Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. (16440249)
2006
15
Frasier syndrome: a rare cause of delayed puberty. (16760553)
2006
16
Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. (16915373)
2006
17
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. (16717397)
2006
18
Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. (17101338)
2006
19
Frasier syndrome comes full circle: genetic studies performed in an original patient. (15973330)
2005
20
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
21
Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome? (14977287)
2004
22
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. (15357247)
2003
23
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. (12722046)
2003
24
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. (12932885)
2003
25
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. (12199335)
2002
26
An unusual phenotype of Frasier syndrome due to IVS9 +4C&gt;T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. (12050205)
2002
27
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. (12106750)
2002
28
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. (12119492)
2002
29
A girl with bilateral ovarian tumours: Frasier syndrome. (11954756)
2002
30
Clinical spectrum of Denys-Drash and Frasier syndrome. (11354777)
2001
31
Frasier syndrome with childhood-onset renal failure. (11509863)
2001
32
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. (11007843)
2000
33
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? (10762296)
2000
34
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. (10094551)
1999
35
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (10571943)
1999
36
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. (10505699)
1999
37
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. (10670748)
1999
38
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. (9499425)
1998
39
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (9475094)
1998
40
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. (9398852)
1997
41
Frasier syndrome. (15251548)
1996
42
Distinct molecular origins for Denys-Drash and Frasier syndromes. (8386697)
1993
43
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. (1478624)
1992

Genetic Variations for Frasier Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Frasier Syndrome:

62
id Symbol AA change Variation ID SNP ID
1WT1p.Phe392LeuVAR_015060

Expression for genes affiliated with Frasier Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frasier Syndrome

Search GEO for disease gene expression data for Frasier Syndrome.

Pathways for genes affiliated with Frasier Syndrome

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37NCBI BioSystems Database, 53Reactome
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Pathways related to Frasier Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CD2AP, NPHS2
2
Hide members
9.1ACTN4, CD2AP, NPHS2
39.1ACTN4, CD2AP, NPHS2

Compounds for genes affiliated with Frasier Syndrome

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44Novoseek, 24HMDB
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Compounds related to Frasier Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid449.9SRY, WT1
2dmrt449.5SRY, WT1, SOX9
3puromycin aminonucleoside449.4NPHS2, CD2AP
4steroid448.6SRY, CD2AP, NPHS2, WT1, SOX9
5zinc44 249.2SRY, MECOM, WT1, SOX9, KLF10

GO Terms for genes affiliated with Frasier Syndrome

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16Gene Ontology
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Cellular components related to Frasier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.2ACTN4, NPHS2, SOX9
2nuclear speckGO:0166078.9SRY, MECOM, WT1
3nucleusGO:0056346.6SRY, KLF10, LHX9, SOX9, WT1, MECOM

Biological processes related to Frasier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1branching involved in ureteric bud morphogenesisGO:0016589.8WT1, SOX9
2positive regulation of male gonad developmentGO:20000209.6SRY, WT1, SOX9
3somatic stem cell maintenanceGO:0350199.5SOX9, KLF10
4male gonad developmentGO:0085849.0SRY, WT1, SOX9, LHX9
5positive regulation of transcription, DNA-dependentGO:0458938.8SOX9, WT1, MECOM, SRY
6negative regulation of transcription, DNA-dependentGO:0458928.7LHX9, SOX9, WT1, MECOM

Molecular functions related to Frasier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037007.2ZNF274, MECOM, WT1, SOX9, LHX9, KLF10
2protein bindingGO:0055156.6SOX9, WT1, NPHS2, MECOM, CD2AP, ZNF274

Products for genes affiliated with Frasier Syndrome

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Sources for Frasier Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet