MCID: FRS002
MIFTS: 50

Frasier Syndrome malady

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

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, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Frasier Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
frasier syndrome:
Inheritance: somatic mutation, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 136680
Disease Ontology10 DOID:0050438
MeSH36 D052159
Orphanet51 347
SNOMED-CT59 445431000
ICD10 via Orphanet28 N04.1
MESH via Orphanet37 D052159
UMLS via Orphanet66 C0950122
MedGen34 C0950122
UMLS65 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 46 xy gonadal dysgenesis and nodular neuronal heterotopia, and has symptoms including primary amenorrhea, male pseudohermaphroditism and glomerulopathy. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin interactions and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, breast and heart, and related mouse phenotypes are normal and respiratory system.

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.

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

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 52)
idRelated DiseaseScoreTop Affiliating Genes
146 xy gonadal dysgenesis30.0AMH, NR5A1, SOX9, SRY
2nodular neuronal heterotopia10.7SOX9, SRY
3anorectal atresia10.6NR5A1, SRY
4pfeiffer syndrome type 310.6NPHS1, NPHS2
5autosomal recessive myogenic arthrogryposis multiplex congenita10.6CD2AP, NPHS1
6dysmorphism-short stature-deafness-disorder of sex development syndrome10.6NR5A1, SOX9, SRY
748,xxxy syndrome10.5NR5A1, SOX9, SRY
8actg2-related disorders10.5NR5A1, SRY
9swyer-james syndrome10.5NR5A1, SOX9, SRY
10uremic neuropathy10.5AMH, SRY
11caudal regression syndrome10.5MNX1, WT1
12breast-ovarian cancer, familial, 210.5FGF9, SOX9, SRY
13glomus tympanicum tumor10.5CD2AP, NPHS2
14spastic hemiplegia10.4CD2AP, NPHS1, NPHS2
1546 xx gonadal dysgenesis10.4AMH, SOX9, SRY
16cranial nerve disease10.4CD2AP, PAX6
17epidermolysis bullosa dystrophica10.4NPHS1, NPHS2, WT1
18nasopharyngeal carcinoma 210.4CD2AP, NPHS1, NPHS2
19pseudohermaphroditism10.4SOX9, SRY
20epithelial predominant wilms' tumor10.4MECOM, PAX6, WT1
21microcephaly10.3NR5A1, SRY, WT1
22hidradenitis suppurativa10.3AMH, NR5A1, SRY
23suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3CD2AP, NPHS1, NPHS2, WT1
24diffuse neonatal hemangiomatosis10.2LAMB2, NPHS1, NPHS2, WT1
25gonadoblastoma10.2
26short qt syndrome10.2AMH, NR5A1, SOX9, SRY
27corneal dystrophy, fuchs endothelial, 810.2ACTN4, LAMB2, NPHS1, NPHS2
28alternating hemiplegia of childhood10.2AMH, NR5A1, SOX9, SRY
29gonadal dysgenesis10.1
30radial hemimelia10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
31congenital nonhemolytic jaundice10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
32limb ischemia10.1ACTN4, CD2AP, NPHS1, NPHS2, WT1
33leprechaunism10.0AMH, NR5A1, WT1
34fibrous synovial sarcoma10.0SRY, ZFY
35denys-drash syndrome10.0
36mixed cerebral palsy9.9MNX1, NPHS1
37fecal incontinence9.9ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
38follicular lymphoma9.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
39coronary artery vasospasm9.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
40alport syndrome9.8
41end stage renal failure9.8
42focal segmental glomerulosclerosis9.8
43glomerulosclerosis9.8
44nephronophthisis9.8
45amenorrhea9.8
46astrocytoma9.8
47sertoli cell tumor9.8
48seminoma9.8
49pilocytic astrocytoma9.8
50nephrotic syndrome, type 49.4CD2AP, MECOM, NPHS1, NR5A1, PDGFA, SRY

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

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 WT1

Anatomical Context for Frasier Syndrome

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MalaCards organs/tissues related to Frasier Syndrome:

33
Kidney, Breast, Heart, Bone, Testes, Endothelial, Tongue

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:00028738.6FGF9, MECOM, MNX1, NPHS1, NR5A1, PAX6
2MP:00053888.6FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
3MP:00053698.3FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
4MP:00053798.2AMH, CD2AP, FGF9, LHX9, MNX1, NR5A1
5MP:00053678.1ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PAX6
6MP:00053897.9AMH, FGF9, LHX9, MECOM, NR5A1, PAX6
7MP:00053847.8ACTN4, FGF9, LAMB2, LHX9, MECOM, MNX1
8MP:00053857.4ACTN4, CD2AP, FGF9, MECOM, MNX1, NPHS2
9MP:00107686.4ACTN4, CD2AP, FGF9, LAMB2, MECOM, MNX1
10MP:00053766.0ACTN4, AMH, CD2AP, FGF9, LAMB2, LHX9
11MP:00053786.0ACTN4, CD2AP, FGF9, LAMB2, LHX9, MECOM

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_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

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 pathwaysScoreTop Affiliating Genes
19.7ACTN4, CD2AP, NPHS1
29.7CD2AP, NPHS1, NPHS2
39.0MNX1, PAX6, PDGFA, SOX9

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
1protein complexGO:00432349.8ACTN4, CD2AP, NPHS2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:200002010.7SOX9, WT1
2metanephric glomerular visceral epithelial cell developmentGO:007224910.7LAMB2, NPHS2
3sex determinationGO:000753010.6SRY, WT1
4positive regulation of mesenchymal cell proliferationGO:000205310.5FGF9, SOX9
5regulation of timing of cell differentiationGO:004850510.4FGF9, PAX6
6male sex determinationGO:003023810.3FGF9, SOX9, SRY
7eye developmentGO:000165410.1FGF9, PAX6
8cell differentiationGO:00301549.6MECOM, NR5A1, PAX6, SOX9, SRY
9extracellular matrix organizationGO:00301989.4LAMB2, PDGFA, SOX9
10positive regulation of transcription, DNA-templatedGO:00458939.3MECOM, NR5A1, PAX6, SOX9, SRY, WT1
11positive regulation of gene expressionGO:00106289.2AMH, FGF9, PAX6, SOX9
12regulation of transcription, DNA-templatedGO:00063558.0LHX9, MECOM, MNX1, PAX6, WT1, ZNF274

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