MCID: FRS002
MIFTS: 48

Frasier Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Frasier Syndrome

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Sources:
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Frasier Syndrome:

Name: Frasier Syndrome 50 33 11 46 23 24 13 52 68 25 12 48 37 66
 
Fs 24 68

Characteristics:

Orphanet epidemiological data:

52
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
frasier syndrome:
Inheritance: autosomal dominant inheritance, somatic mutation


Classifications:



External Ids:

OMIM50 136680
Disease Ontology11 DOID:0050438
MeSH37 D052159
NCIt43 C122805
Orphanet52 ORPHA347
SNOMED-CT60 445431000
ICD10 via Orphanet29 N04.1
MESH via Orphanet38 D052159
UMLS via Orphanet67 C0950122
MedGen35 C0950122

Summaries for Frasier Syndrome

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OMIM:50 Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al.,... (136680) more...

MalaCards based summary: Frasier Syndrome, also known as fs, is related to spermatogenic failure, y-linked, 1 and familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation, and has symptoms including male pseudohermaphroditism, primary amenorrhea and renal insufficiency. 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 Nephrin interactions. Affiliated tissues include kidney, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Genetics Home Reference:24 Frasier syndrome is a condition that affects the kidneys and genitalia.

UniProtKB/Swiss-Prot:68 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:69 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. more...

Related Diseases for Frasier Syndrome

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Diseases related to Frasier Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1spermatogenic failure, y-linked, 110.7SOX9, SRY
2familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.7CD2AP, NPHS2
3pfeiffer syndrome type 310.7NPHS1, WT1
4pfeiffer syndrome type 210.6NPHS1, NPHS2
5acute myeloid leukemia with cebpa somatic mutations10.6CD2AP, NPHS1
6tetraamelia with pulmonary hypoplasia10.6NR5A1, SRY
7hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation10.5SOX9, SRY, WT1
8farmer's lung10.5SOX9, SRY
9drug-induced vasculitis10.5NR5A1, SOX9, SRY
1048,xxxy syndrome10.5NR5A1, SOX9, SRY
11abca1-related disorders10.5NR5A1, SRY
12lipid-rich carcinoma10.4CD2AP, PAX6
13spastic monoplegia10.4ACTN4, NPHS1, NPHS2
1446 xx gonadal dysgenesis10.4NR5A1, SOX9, SRY
15uremia10.4AMH, SRY
16epileptic encephalopathy, early infantile, 3110.4PAX6, WT1
17exocrine pancreatic insufficiency10.4NPHS1, NPHS2, WT1
18nasopharyngeal carcinoma 210.4CD2AP, NPHS1, NPHS2
19stomatitis10.4NPHS1, NPHS2
20wrinkles10.4PAX6, SRY, WT1
21testicular gonadoblastoma10.4NR5A1, WT1
22prostate adenocarcinoma10.3SOX9, SRY
23tooth disease10.3NR5A1, SOX9, SRY, WT1
24suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3CD2AP, NPHS1, NPHS2, WT1
25aortitis10.2PAX6, WT1
26gonadoblastoma10.2
27diabetes mellitus, insulin-resistant, with acanthosis nigricans10.2AMH, NR5A1, WT1
28coronary thrombosis10.2LAMB2, NPHS1, NPHS2, WT1
29corneal dystrophy, fuchs endothelial, 810.2ACTN4, LAMB2, NPHS1, NPHS2
30unna-thost palmoplantar keratoderma10.2LAMB2, PDGFA, WT1
31multiple synostoses syndrome10.1AMH, NR5A1, SOX9, SRY
32gonadal dysgenesis10.1
33leukorrhea10.1SOX9, SRY
34ulnar hemimelia10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
35denys-drash syndrome10.0
36mixed gonadal dysgenesis10.0AMH, NR5A1, SOX9, SRY, WT1
37alport syndrome9.8
38end stage renal failure9.8
39focal segmental glomerulosclerosis9.8
40glomerulosclerosis9.8
41nephronophthisis9.8
42amenorrhea9.8
4346 xy gonadal dysgenesis9.8
44astrocytoma9.8
45sertoli cell tumor9.8
46seminoma9.8
47pilocytic astrocytoma9.8
48female stress incontinence9.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
49gas gangrene9.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
50chronic venous insufficiency9.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1

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



Diseases related to frasier syndrome

Symptoms for Frasier Syndrome

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Symptoms by clinical synopsis from OMIM:

136680

Clinical features from OMIM:

136680

HPO human phenotypes related to Frasier Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 male pseudohermaphroditism hallmark (90%) HP:0000037
2 primary amenorrhea hallmark (90%) HP:0000786
3 renal insufficiency typical (50%) HP:0000083
4 proteinuria typical (50%) HP:0000093
5 nephrotic syndrome typical (50%) HP:0000100
6 glomerulopathy typical (50%) HP:0100820
7 male pseudohermaphroditism HP:0000037
8 focal segmental glomerulosclerosis HP:0000097
9 nephrotic syndrome HP:0000100
10 gonadal dysgenesis HP:0000133
11 ovarian gonadoblastoma HP:0000149
12 primary amenorrhea HP:0000786
13 stage 5 chronic kidney disease HP:0003774

Drugs & Therapeutics for Frasier Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated DiseasesCompletedNCT01252901
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Frasier Syndrome


Cochrane evidence based reviews: frasier syndrome

Genetic Tests for Frasier Syndrome

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Genetic tests related to Frasier Syndrome:

id Genetic test Affiliating Genes
1 Frasier Syndrome25 23 WT1

Anatomical Context for Frasier Syndrome

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MalaCards organs/tissues related to Frasier Syndrome:

34
Kidney

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Affected by disease

Animal Models for Frasier Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Frasier Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0AMH, FGF9, LHX9, NR5A1, PAX6, PDGFA
2MP:00053798.0AMH, CD2AP, FGF9, LHX9, NR5A1, PAX6
3MP:00053857.9ACTN4, CD2AP, FGF9, NPHS2, NR5A1, PAX6
4MP:00053677.7ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PAX6
5MP:00107687.0ACTN4, CD2AP, FGF9, LAMB2, NPHS1, NPHS2
6MP:00053766.4ACTN4, AMH, CD2AP, FGF9, LAMB2, LHX9
7MP:00053786.4ACTN4, CD2AP, FGF9, LAMB2, LHX9, NPHS2

Publications for Frasier Syndrome

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Articles related to Frasier Syndrome:

(show all 45)
idTitleAuthorsYear
1
Total Laparoscopic Colocolpopoiesis in a Kidney transplant Recipient With Frasier Syndrome. (26516816)
2015
2
Gonadal Tumor in Frasier Syndrome: A Review and Classification. (25623218)
2015
3
Proteinuria in Frasier syndrome. (24364235)
2013
4
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
5
Frasier syndrome: four new cases with unusual presentations. (23295293)
2012
6
Frasier syndrome in 17-year-old girl--case report. (21853939)
2011
7
Recurrence of a dysgerminoma in Frasier syndrome. (20408995)
2011
8
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. (20497763)
2010
9
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
10
Frasier syndrome, a potential cause of end-stage renal failure in childhood. (19921279)
2010
11
WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. (19711733)
2009
12
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
13
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. (18271004)
2008
14
Expanding the clinical spectrum of Frasier syndrome. (17378674)
2008
15
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. (17694336)
2007
16
Frasier syndrome: a rare cause of delayed puberty. (16760553)
2006
17
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. (16717397)
2006
18
Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. (16440249)
2006
19
Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. (16915373)
2006
20
Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. (17101338)
2006
21
Frasier syndrome comes full circle: genetic studies performed in an original patient. (15973330)
2005
22
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
23
Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome? (14977287)
2004
24
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. (12932885)
2003
25
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. (15357247)
2003
26
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. (12722046)
2003
27
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. (12199335)
2002
28
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
29
A girl with bilateral ovarian tumours: Frasier syndrome. (11954756)
2002
30
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. (12106750)
2002
31
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. (12119492)
2002
32
Clinical spectrum of Denys-Drash and Frasier syndrome. (11354777)
2001
33
Frasier syndrome with childhood-onset renal failure. (11509863)
2001
34
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. (11007843)
2000
35
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? (10762296)
2000
36
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. (10670748)
1999
37
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. (10094551)
1999
38
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (10571943)
1999
39
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. (10505699)
1999
40
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (9475094)
1998
41
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. (9499425)
1998
42
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. (9398852)
1997
43
Frasier syndrome. (15251548)
1996
44
Distinct molecular origins for Denys-Drash and Frasier syndromes. (8386697)
1993
45
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. (1478624)
1992

Variations for Frasier Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Frasier Syndrome:

68
id Symbol AA change Variation ID SNP ID
1WT1p.Phe392LeuVAR_015060

Clinvar genetic disease variations for Frasier Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_001198551.1(WT1): c.787+15T> Asingle nucleotide variantPathogenicrs587776575GRCh38Chr 11, 32391966: 32391966
2WT1NM_024426.4(WT1): c.1432+5G> Asingle nucleotide variantPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
3WT1NM_024426.4(WT1): c.1372C> T (p.Arg458Ter)single nucleotide variantPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
4WT1NM_024426.4(WT1): c.1432+4C> Tsingle nucleotide variantPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968
5WT1NM_024426.4(WT1): c.1378T> C (p.Phe460Leu)single nucleotide variantPathogenicrs28941779GRCh37Chr 11, 32413572: 32413572

Copy number variations for Frasier Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
153589113100000036400000Copy numberWT1Frasier syndrome

Expression for genes affiliated with Frasier Syndrome

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Search GEO for disease gene expression data for Frasier Syndrome.

Pathways for genes affiliated with Frasier Syndrome

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GO Terms for genes affiliated with Frasier Syndrome

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Cellular components related to Frasier Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:004479810.0SOX9, SRY
2slit diaphragmGO:00360579.7NPHS1, NPHS2

Biological processes related to Frasier Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.7LAMB2, NPHS2
2negative regulation of female gonad developmentGO:200019510.7NR5A1, WT1
3glomerular basement membrane developmentGO:003283610.6NPHS1, WT1
4lacrimal gland developmentGO:003280810.6PAX6, SOX9
5sex determinationGO:000753010.5AMH, WT1
6regulation of timing of cell differentiationGO:004850510.5FGF9, PAX6
7adrenal gland developmentGO:003032510.4NR5A1, WT1
8tissue developmentGO:000988810.4NR5A1, WT1
9positive regulation of epithelial cell differentiationGO:003085810.4PAX6, SOX9
10female gonad developmentGO:000858510.3LHX9, NR5A1
11positive regulation of mesenchymal cell proliferationGO:00020539.9FGF9, PDGFA, SOX9
12male sex determinationGO:00302389.8FGF9, SOX9, SRY
13positive regulation of male gonad developmentGO:20000209.8NR5A1, SOX9, SRY, WT1
14retina development in camera-type eyeGO:00600419.5LAMB2, PAX6, SOX9
15positive regulation of transcription, DNA-templatedGO:00458939.4NR5A1, PAX6, SOX9, SRY, WT1
16cell-cell signalingGO:00072679.4AMH, FGF9, NR5A1, PDGFA
17cell differentiationGO:00301549.2NR5A1, PAX6, SOX9, SRY, YIPF3
18positive regulation of gene expressionGO:00106289.2AMH, FGF9, PAX6, SOX9
19male gonad developmentGO:00085849.0FGF9, LHX9, NR5A1, SOX9, SRY, WT1
20regulation of transcription from RNA polymerase II promoterGO:00063578.9NR5A1, PAX6, SOX9, WT1, ZNF274
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGF9, PAX6, SOX9, SRY, WT1

Molecular functions related to Frasier Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.2NR5A1, SOX9, SRY
2sequence-specific DNA bindingGO:00435658.1LHX9, NR5A1, PAX6, SOX9, WT1, ZNF274
3transcription factor activity, sequence-specific DNA bindingGO:00037007.8NR5A1, PAX6, SOX9, WT1, ZFY, ZNF274

Sources for Frasier Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet