MCID: FRS002
MIFTS: 50

Frasier Syndrome malady

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

Aliases & Classifications for Frasier Syndrome

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Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Frasier Syndrome:

Name: Frasier Syndrome 49 32 10 11 45 22 23 47 12 51 24 65 36 67
 
Fs 23 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 136680
Disease Ontology10 DOID:0050438
MeSH36 D052159
Orphanet51 347
ICD10 via Orphanet28 N04.1
MESH via Orphanet37 D052159
UMLS via Orphanet66 C0950122
MedGen34 C0950122

Summaries for Frasier Syndrome

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OMIM:49 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 gonadal dysgenesis and denys-drash syndrome, 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 muscle and respiratory system.

Genetics Home Reference:23 Frasier syndrome is a condition that affects the kidneys and genitalia.

UniProtKB/Swiss-Prot:67 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:68 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.7AMH, NR5A1, SOX9, SRY
2denys-drash syndrome30.0CD2AP, NPHS1, NPHS2, NR5A1, PDGFA, WT1
3gonadoblastoma10.5
4nodular neuronal heterotopia10.3SOX9, SRY
5pfeiffer syndrome type 310.3NPHS1, NPHS2
6glycogen storage disease due to lactate dehydrogenase deficiency10.3ACTN4, NPHS2, WT1
7autosomal recessive myogenic arthrogryposis multiplex congenita10.3CD2AP, NPHS1
8glomus tympanicum tumor10.2CD2AP, NPHS1, NPHS2
9spastic hemiplegia10.2CD2AP, NPHS1, NPHS2
10nasal cavity inverting papilloma10.2SOX9, SRY, WT1
1148,xxxy syndrome10.2NR5A1, SOX9, SRY
12caudal regression syndrome10.2MNX1, WT1
13chronic closed-angle glaucoma10.2NR5A1, SOX9, SRY
14swyer-james syndrome10.2NR5A1, SOX9, SRY
15membranous nephropathy10.2CD2AP, NPHS1, NPHS2
16moebius syndrome10.2FGF9, SOX9, SRY
17epidermolysis bullosa dystrophica10.2NPHS1, NPHS2, WT1
18third ventricle chordoid glioma10.2AMH, SOX9, SRY
19osteitis fibrosa10.2AMH, SRY
20testicular granulosa cell tumor10.2AMH, SOX9, SRY
21herpes simplex10.2AMH, SOX9, SRY
22alternating hemiplegia of childhood10.1NR5A1, SOX9, SRY
23actg2-related disorders10.1NR5A1, SRY
24waldenstrom macroglobulinemia10.1PAX6, SRY, WT1
25pigmented paravenous retinochoroidal atrophy10.1NR5A1, SOX9, SRY, WT1
26corneal dystrophy, fuchs endothelial, 810.1ACTN4, LAMB2, NPHS1, NPHS2
27sweat gland carcinoma10.1CD2AP, PAX6
28benign breast adenomyoepithelioma10.1CD2AP, NPHS1, NPHS2, WT1
29alport syndrome10.1
30end stage renal failure10.1
31focal segmental glomerulosclerosis10.1
32sertoli cell tumor10.1
3346 xy gonadal dysgenesis10.1
34nephronophthisis10.1
35amenorrhea10.1
36astrocytoma10.1
37glomerulosclerosis10.1
38seminoma10.1
39pilocytic astrocytoma10.1
40nephrogenic adenoma10.1NR5A1, SOX9, SRY, WT1
41anorectal atresia10.1NR5A1, SRY
42suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
43radial hemimelia10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
44congenital nonhemolytic jaundice10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
45glomus tumor10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
46respiratory failure10.1AMH, NR5A1, SRY
47leprechaunism10.0AMH, NR5A1, WT1
48fecal incontinence10.0ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
49dopamine beta-hydroxylase deficiency10.0PAX6, WT1
50nerve compression syndrome10.0ACTN4, 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

Symptoms:

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

HPO human phenotypes related to Frasier Syndrome:

(show all 15)
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 autosomal dominant inheritance HP:0000006
8 male pseudohermaphroditism HP:0000037
9 focal segmental glomerulosclerosis HP:0000097
10 nephrotic syndrome HP:0000100
11 gonadal dysgenesis HP:0000133
12 ovarian gonadoblastoma HP:0000149
13 primary amenorrhea HP:0000786
14 somatic mutation HP:0001428
15 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

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 Syndrome22 24 WT1

Anatomical Context for Frasier Syndrome

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MalaCards organs/tissues related to Frasier Syndrome:

33
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:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
2MP:00053888.3FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
3MP:00053678.2ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PAX6
4MP:00028738.0FGF9, MECOM, MNX1, NR5A1, PAX6, SOX9
5MP:00053857.5ACTN4, CD2AP, FGF9, MECOM, MNX1, NPHS2
6MP:00053847.0ACTN4, FGF9, LAMB2, LHX9, MECOM, MNX1
7MP:00053796.9AMH, FGF9, LHX9, MNX1, NR5A1, PAX6
8MP:00053896.2AMH, FGF9, LHX9, MECOM, NR5A1, PAX6
9MP:00053786.0ACTN4, CD2AP, FGF9, LAMB2, MECOM, MNX1
10MP:00053765.9ACTN4, AMH, CD2AP, FGF9, LAMB2, LHX9
11MP:00107685.6ACTN4, CD2AP, FGF9, LAMB2, MECOM, MNX1

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
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
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
9
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. (20497763)
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 syndrome with WT1 gene mutation in pediatric urology]. (16440249)
2006
17
Frasier syndrome: a rare cause of delayed puberty. (16760553)
2006
18
Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. (16915373)
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
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
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. (15357247)
2003
25
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. (12722046)
2003
26
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. (12932885)
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
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. (12106750)
2002
30
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. (12119492)
2002
31
A girl with bilateral ovarian tumours: Frasier syndrome. (11954756)
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
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. (10094551)
1999
37
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (10571943)
1999
38
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. (10505699)
1999
39
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. (10670748)
1999
40
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. (9499425)
1998
41
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (9475094)
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:

67
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_001198551.1(WT1): c.787+14G> 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

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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Pathways related to Frasier Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CD2AP, NPHS1, NPHS2
29.8ACTN4, CD2AP, NPHS1

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:004479810.7SOX9, SRY
2slit diaphragmGO:003605710.7NPHS1, NPHS2
3nucleoplasmGO:00056546.6MECOM, NR5A1, PAX6, SOX9, SRY, TIA1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.8LAMB2, NPHS2
2negative regulation of female gonad developmentGO:200019510.7NR5A1, WT1
3regulation of timing of cell differentiationGO:004850510.5FGF9, PAX6
4diaphragm developmentGO:006053910.5MNX1, WT1
5lacrimal gland developmentGO:003280810.5PAX6, SOX9
6glomerular basement membrane developmentGO:003283610.5NPHS1, WT1
7positive regulation of epithelial cell differentiationGO:003085810.5PAX6, SOX9
8gonad developmentGO:000840610.4AMH, WT1
9sex determinationGO:000753010.4AMH, SRY, WT1
10tissue developmentGO:000988810.3NR5A1, WT1
11female gonad developmentGO:000858510.3LHX9, NR5A1
12positive regulation of mesenchymal cell proliferationGO:000205310.1FGF9, PDGFA, SOX9
13retina development in camera-type eyeGO:006004110.1LAMB2, PAX6, SOX9
14Sertoli cell developmentGO:00600099.8SOX9, WT1
15male sex determinationGO:00302389.7FGF9, SOX9, SRY
16positive regulation of male gonad developmentGO:20000209.6NR5A1, SOX9, SRY, WT1
17cell-cell signalingGO:00072679.4AMH, FGF9, NR5A1, PDGFA
18positive regulation of gene expressionGO:00106289.4AMH, FGF9, PAX6, SOX9
19positive regulation of transcription, DNA-templatedGO:00458939.2MECOM, NR5A1, PAX6, SOX9, SRY, WT1
20cell differentiationGO:00301548.9MECOM, NR5A1, PAX6, SOX9, SRY, YIPF3
21male gonad developmentGO:00085848.8FGF9, LHX9, NR5A1, SOX9, SRY, WT1
22regulation of transcription from RNA polymerase II promoterGO:00063578.3MNX1, NR5A1, PAX6, SOX9, WT1, ZNF274
23regulation of transcription, DNA-templatedGO:00063557.1LHX9, MECOM, MNX1, NR5A1, PAX6, 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:000370510.3NR5A1, SOX9, SRY
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.4PAX6, SOX9, SRY, ZNF274
3sequence-specific DNA bindingGO:00435657.7LHX9, MNX1, NR5A1, PAX6, SOX9, WT1
4transcription factor activity, sequence-specific DNA bindingGO:00037006.8MECOM, MNX1, NR5A1, PAX6, SOX9, SRY
5DNA bindingGO:00036776.8LHX9, MECOM, MNX1, NR5A1, PAX6, SOX9

Sources for Frasier Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet