MCID: FRS002
MIFTS: 42

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Frasier Syndrome:

Name: Frasier Syndrome 52 35 11 48 24 25 54 70 27 12 50 39 13 68
 
Fs 25 70

Characteristics:

Orphanet epidemiological data:

54
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
frasier syndrome:
Inheritance: autosomal dominant inheritance, somatic mutation

Classifications:



External Ids:

OMIM52 136680
Disease Ontology11 DOID:0050438
MeSH39 D052159
NCIt45 C122805
Orphanet54 ORPHA347
SNOMED-CT62 445431000
MESH via Orphanet40 D052159
UMLS via Orphanet69 C0950122
ICD10 via Orphanet31 N04.1
MedGen37 C0950122

Summaries for Frasier Syndrome

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OMIM:52 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 denys-drash syndrome and pfeiffer syndrome type 3, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, and related mouse phenotype renal/urinary system.

UniProtKB/Swiss-Prot:70 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:71 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 all 46)
idRelated DiseaseScoreTop Affiliating Genes
1denys-drash syndrome10.9
2pfeiffer syndrome type 310.1NPHS1, WT1
3gonadoblastoma10.1
4gonadal dysgenesis10.1
5wrinkles10.0SRY, WT1
6pfeiffer syndrome type 210.0NPHS1, NPHS2
7stomatitis10.0NPHS1, NPHS2
8spastic monoplegia9.9NPHS1, NPHS2
9hypopigmentation of eyelid9.9NPHS1, NPHS2
10spermatogenic failure, y-linked, 19.9SOX9, SRY
11corneal dystrophy, fuchs endothelial, 89.9NPHS1, NPHS2
12drug-induced vasculitis9.8SOX9, SRY
1348,xxxy syndrome9.8SOX9, SRY
14farmer's lung9.8SOX9, SRY
15prostate adenocarcinoma9.8SOX9, SRY
16leukorrhea9.8SOX9, SRY
17vipoma9.7NPHS1, NPHS2
18alport syndrome9.7
19end stage renal failure9.7
20focal segmental glomerulosclerosis9.7
21glomerulosclerosis9.7
22nephronophthisis9.7
23amenorrhea9.7
2446 xy gonadal dysgenesis9.7
25astrocytoma9.7
26sertoli cell tumor9.7
27seminoma9.7
28pilocytic astrocytoma9.7
29suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.7NPHS1, NPHS2, WT1
30ulnar hemimelia9.7NPHS1, NPHS2, WT1
31female stress incontinence9.7NPHS1, NPHS2, WT1
32nephrotic syndrome, type 49.7NPHS1, NPHS2, WT1
33alveolar soft-part sarcoma9.6SOX9, SRY
34nasopharyngeal carcinoma 29.6NPHS1, NPHS2
35exocrine pancreatic insufficiency9.6NPHS1, NPHS2, WT1
36gas gangrene9.6NPHS1, NPHS2, WT1
37chronic venous insufficiency9.6NPHS1, NPHS2, WT1
38multiple synostoses syndrome9.6SOX9, SRY
39coronary thrombosis9.6NPHS1, NPHS2, WT1
4046 xx gonadal dysgenesis9.6SOX9, SRY
41hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation9.5SOX9, SRY, WT1
42mixed gonadal dysgenesis9.5SOX9, SRY, WT1
43granuloma annulare9.5NPHS1, NPHS2
44tooth disease9.5SOX9, SRY, WT1
45meacham syndrome8.5NPHS1, NPHS2, SOX9, SRY, WT1
46hyperbiliverdinemia8.5NPHS1, NPHS2, SOX9, SRY, WT1

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



Diseases related to frasier syndrome

Symptoms & Phenotypes for Frasier Syndrome

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Symptoms by clinical synopsis from OMIM:

136680

Clinical features from OMIM:

136680

Human phenotypes related to Frasier Syndrome:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 male pseudohermaphroditism64 hallmark (90%) HP:0000037
2 primary amenorrhea64 hallmark (90%) HP:0000786
3 renal insufficiency64 typical (50%) HP:0000083
4 proteinuria64 typical (50%) HP:0000093
5 nephrotic syndrome64 typical (50%) HP:0000100
6 glomerulopathy64 typical (50%) HP:0100820
7 focal segmental glomerulosclerosis64 HP:0000097
8 gonadal dysgenesis64 HP:0000133
9 ovarian gonadoblastoma64 HP:0000149
10 stage 5 chronic kidney disease64 HP:0003774

MGI Mouse Phenotypes related to Frasier Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1NPHS1, NPHS2, SOX9, WT1

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 Syndrome27 24 WT1

Anatomical Context for Frasier Syndrome

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MalaCards organs/tissues related to Frasier Syndrome:

36
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

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>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>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:

70
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> ASNVPathogenicrs587776575GRCh38Chr 11, 32391966: 32391966
2WT1NM_024426.4(WT1): c.1432+5G> ASNVPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
3WT1NM_024426.4(WT1): c.1372C> T (p.Arg458Ter)SNVPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
4WT1NM_024426.4(WT1): c.1432+4C> TSNVPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968
5WT1NM_024426.4(WT1): c.1378T> C (p.Phe460Leu)SNVPathogenicrs28941779GRCh37Chr 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:00447989.3SOX9, SRY
2slit diaphragmGO:00360579.3NPHS1, NPHS2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.2NPHS1, WT1
2excretionGO:000758810.1NPHS1, NPHS2
3branching involved in ureteric bud morphogenesisGO:00016589.9SOX9, WT1
4male sex determinationGO:00302389.8SOX9, SRY
5male gonad developmentGO:00085849.4SOX9, SRY, WT1
6negative regulation of transcription from RNA polymerase II promoterGO:00001229.3SOX9, SRY, WT1
7positive regulation of male gonad developmentGO:20000209.3SOX9, SRY, WT1
8positive regulation of transcription, DNA-templatedGO:00458938.7SOX9, 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:00037059.1SOX9, SRY

Sources for Frasier Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet