FS
MCID: FRS002
MIFTS: 47

Frasier Syndrome (FS) 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 focal segmental glomerulosclerosis and denys-drash syndrome, and has symptoms including male pseudohermaphroditism, focal segmental glomerulosclerosis and nephrotic syndrome. 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 renal/urinary system and endocrine/exocrine gland.

Genetics Home Reference:25 Frasier syndrome is a condition that affects the kidneys and genitalia.

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.

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 47)
idRelated DiseaseScoreTop Affiliating Genes
1focal segmental glomerulosclerosis29.5ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, WT1
2denys-drash syndrome10.9
3renal agenesis, unilateral10.3CD2AP, NPHS2
4spermatogenic failure, y-linked, 110.3SOX9, SRY
5congenital megacalycosis10.3PLCE1, WT1
6pauci-immune glomerulonephritis10.3NPHS1, NPHS2
78p23.1 duplication syndrome10.3NR5A1, SOX9, SRY
8orofaciodigital syndrome x10.3SOX9, SRY, WT1
9sick sinus syndrome 310.2CD2AP, NPHS1, NPHS2
10glaucoma 1, open angle, e10.2ACTN4, NPHS1, NPHS2
11transient pseudohypoaldosteronism10.2NPHS1, PLCE1, WT1
12autosomal dominant optic atrophy and late-onset deafness10.2NR5A1, SOX9, SRY
13hemiplegia10.2CD2AP, NPHS1, NPHS2
14hypothyroidism, congenital, nongoitrous, 310.2ACTN4, NPHS1, NPHS2
15antisynthetase syndrome10.2NR5A1, SRY
16familial nephrotic syndrome10.2NPHS1, NPHS2, WT1
17disease_ontology10.2PAX6, SRY, WT1
18benign essential hypertension10.2NR5A1, SOX9, SRY, WT1
19biliary cirrhosis, primary, 210.2CD2AP, NPHS1, NPHS2
20dystonia-1, torsion10.1PAX6, WT1
21capillary lymphangioma10.1AMH, NR5A1, SRY
22farmer's lung10.1NR5A1, SOX9, SRY, STAR
23gonadoblastoma10.1
24congenital torticollis10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
25avoidant personality disorder10.1AMH, NR5A1, SRY
26cytomegalovirus retinitis10.1NR5A1, STAR
27malignant hyperthermia susceptibility 110.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
28gastric cancer10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
29lung giant cell carcinoma10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
30gonadal dysgenesis10.1
31cone dystrophy10.0AMH, NR5A1, SOX9, SRY, WT1
3246 xx gonadal dysgenesis10.0AMH, NR5A1, SOX9, SRY, WT1
33acral persistent papular mucinosis10.0ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, WT1
34transient refractive change10.0ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, WT1
35diprosopia10.0NPHS1, NPHS2, PDGFA, PLCE1, WT1
36diabetes mellitus, insulin-resistant, with acanthosis nigricans9.9AMH, NR5A1, WT1
37alport syndrome9.7
38end stage renal failure9.7
39nephronophthisis9.7
40amenorrhea9.7
4146 xy gonadal dysgenesis9.7
42astrocytoma9.7
43sertoli cell tumor9.7
44seminoma9.7
45pilocytic astrocytoma9.7
46cerebral cavernous malformations-29.7ACTN4, CD2AP, NPHS1, NPHS2, NR5A1, PAX6
47deafness, autosomal recessive 517.8ACTN4, AMH, CD2AP, CMIP, FGF9, LHX9

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 7)
id Description HPO Frequency HPO Source Accession
1 male pseudohermaphroditism64 HP:0000037
2 focal segmental glomerulosclerosis64 HP:0000097
3 nephrotic syndrome64 HP:0000100
4 gonadal dysgenesis64 HP:0000133
5 ovarian gonadoblastoma64 HP:0000149
6 primary amenorrhea64 HP:0000786
7 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:00053679.0ACTN4, CD2AP, NPHS1, NPHS2, PAX6, PDGFA
2MP:00053798.5AMH, CD2AP, FGF9, LHX9, NR5A1, PAX6
3MP:00053858.5ACTN4, CD2AP, FGF9, NPHS2, NR5A1, PAX6
4MP:00053787.5ACTN4, CD2AP, FGF9, LHX9, NPHS2, NR5A1
5MP:00107687.5ACTN4, CD2AP, CMIP, FGF9, NPHS1, NPHS2
6MP:00053897.4AMH, FGF9, LHX9, NR5A1, PAX6, PDGFA
7MP:00053767.0ACTN4, AMH, CD2AP, FGF9, LHX9, NPHS1

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
Gonadal Tumor in Frasier Syndrome: A Review and Classification. (25623218)
2015
2
Total Laparoscopic Colocolpopoiesis in a Kidney transplant Recipient With Frasier Syndrome. (26516816)
2015
3
Proteinuria in Frasier syndrome. (24364235)
2013
4
Frasier syndrome: four new cases with unusual presentations. (23295293)
2012
5
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
6
Recurrence of a dysgerminoma in Frasier syndrome. (20408995)
2011
7
Frasier syndrome in 17-year-old girl--case report. (21853939)
2011
8
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. (20497763)
2010
9
Frasier syndrome, a potential cause of end-stage renal failure in childhood. (19921279)
2010
10
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
11
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
12
WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. (19711733)
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 in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. (16915373)
2006
17
Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. (16440249)
2006
18
Frasier syndrome: a rare cause of delayed puberty. (16760553)
2006
19
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. (16717397)
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
Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome? (14977287)
2004
23
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
24
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. (15357247)
2003
25
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. (12932885)
2003
26
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. (12722046)
2003
27
A girl with bilateral ovarian tumours: Frasier syndrome. (11954756)
2002
28
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. (12106750)
2002
29
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. (12119492)
2002
30
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. (12199335)
2002
31
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
32
Clinical spectrum of Denys-Drash and Frasier syndrome. (11354777)
2001
33
Frasier syndrome with childhood-onset renal failure. (11509863)
2001
34
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? (10762296)
2000
35
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. (11007843)
2000
36
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (10571943)
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
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. (10670748)
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.1384C> T (p.Arg462Trp)SNVPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
3WT1NM_ 024426.4(WT1): c.1432+5G> ASNVPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
4WT1NM_ 024426.4(WT1): c.1372C> T (p.Arg458Ter)SNVPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
5WT1NM_ 024426.4(WT1): c.1432+4C> TSNVPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968
6WT1NM_ 024426.4(WT1): c.1378T> C (p.Phe460Leu)SNVPathogenicrs28941779GRCh37Chr 11, 32413572: 32413572
7WT1NM_ 001198551.1(WT1): c.161delC (p.Pro54Argfs)deletionPathogenicrs1060501253GRCh38Chr 11, 32428031: 32428031

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
1slit diaphragmGO:003605710.1NPHS1, NPHS2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.8NPHS1, WT1
2adrenal gland developmentGO:003032510.8NR5A1, WT1
3negative regulation of female gonad developmentGO:200019510.7NR5A1, WT1
4glomerulus developmentGO:003283510.7PLCE1, WT1
5cellular response to gonadotropin stimulusGO:007137110.7STAR, WT1
6gonad developmentGO:000840610.6AMH, WT1
7lacrimal gland developmentGO:003280810.6PAX6, SOX9
8positive regulation of epithelial cell differentiationGO:003085810.6PAX6, SOX9
9regulation of steroid biosynthetic processGO:005081010.6NR5A1, STAR
10male sex determinationGO:003023810.5FGF9, SOX9, SRY
11regulation of timing of cell differentiationGO:004850510.4FGF9, PAX6
12positive regulation of male gonad developmentGO:200002010.3NR5A1, SOX9, SRY, WT1
13positive regulation of mesenchymal cell proliferationGO:000205310.2FGF9, PDGFA, SOX9
14tissue developmentGO:000988810.0NR5A1, WT1
15sex determinationGO:000753010.0AMH, NR5A1, WT1
16positive regulation of transcription, DNA-templatedGO:00458939.9NR5A1, PAX6, SOX9, SRY, WT1
17cell-cell signalingGO:00072679.7AMH, FGF9, NR5A1, PDGFA
18regulation of transcription from RNA polymerase II promoterGO:00063579.6NR5A1, PAX6, SOX9, SRY, WT1
19male gonad developmentGO:00085849.4FGF9, LHX9, NR5A1, SOX9, STAR, WT1
20positive regulation of gene expressionGO:00106289.3AMH, FGF9, NR5A1, PAX6, SOX9, STAR
21cell differentiationGO:00301548.8AMH, FGF9, NR5A1, PAX6, SOX9, SRY

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:00037059.8NR5A1, SOX9, SRY
2sequence-specific DNA bindingGO:00435658.9LHX9, NR5A1, PAX6, SOX9, WT1, ZNF274

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