MCID: FRS002
MIFTS: 56

Frasier Syndrome malady

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

Summaries for Frasier Syndrome

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OMIM:47 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 gonadoblastoma and gonadal dysgenesis, 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 Cell junction organization and Nephrin interactions. The compounds deoxyribonucleic acid and adenine have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

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

Wikipedia:65 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. more...

Aliases & Classifications for Frasier Syndrome

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Sources:
47OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Frasier Syndrome, Aliases & Descriptions:

Name: Frasier Syndrome 47 32 10 11 43 22 23 12 45 49 24 62
 
Fs 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM47 136680
Disease Ontology10 DOID:0050438
MeSH35 D052159
Orphanet49 347
MESH via Orphanet36 D052159
ICD10 via Orphanet28 N04.1
UMLS via Orphanet63 C0950122

Related Diseases for Frasier Syndrome

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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:

 49 (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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Drug clinical trials:

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Search NIH Clinical Center for 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
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Potential therapeutic candidate, affected by disease

Animal Models for Frasier Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Frasier Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0WT1, SOX9, LHX9
2MP:00053798.7LHX9, SOX9, SRY, WT1
3MP:00053898.7SRY, SOX9, LHX9, WT1
4MP:00053678.3CD2AP, SOX9, ACTN4, WT1
5MP:00053858.2SOX9, ACTN4, CD2AP, WT1
6MP:00053978.1CD2AP, ACTN4, WT1, SOX9
7MP:00053848.1WT1, ACTN4, LHX9, SOX9
8MP:00053878.0SOX9, CD2AP, WT1, ACTN4
9MP:00053767.8LHX9, WT1, SOX9, ACTN4, CD2AP
10MP:00107687.8WT1, ACTN4, SRY, SOX9, CD2AP

Publications for Frasier Syndrome

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Articles related to Frasier Syndrome:

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

64
id Symbol AA change Variation ID SNP ID
1WT1p.Phe392LeuVAR_015060

Clinvar genetic disease variations for Frasier Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_001198551.1(WT1): c.787+15T> Asingle nucleotide variantPathogenicGRCh38Chr 11, 32391966: 32391966
2WT1NM_001198551.1(WT1): c.787+14G> Asingle nucleotide variantPathogenicGRCh38Chr 11, 32391967: 32391967
3WT1NM_000378.4(WT1): c.1321C> T (p.Arg441Ter)single nucleotide variantPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
4WT1NM_001198551.1(WT1): c.787+13C> Tsingle nucleotide variantPathogenicGRCh38Chr 11, 32391968: 32391968
5WT1NM_000378.4(WT1): c.1327T> C (p.Phe443Leu)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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Compounds for genes affiliated with Frasier Syndrome

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Sources:
45Novoseek, 26HMDB, 13DrugBank, 61Tocris Bioscience
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Compounds related to Frasier Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid459.7WT1, SRY
2adenine45 26 1311.6SRY, WT1
3dmrt459.2SOX9, SRY, WT1
4testosterone45 61 26 1312.0WT1, SRY, SOX9
5zinc45 269.8WT1, SOX9, SRY
6serine458.5SOX9, WT1, ACTN4, SRY
7steroid458.4SOX9, SRY, CD2AP, WT1

GO Terms for genes affiliated with Frasier Syndrome

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Cellular components related to Frasier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear speckGO:00166079.6WT1, SRY
2nucleusGO:00056347.6WT1, ACTN4, SRY, SOX9, LHX9

Biological processes related to Frasier Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1branching involved in ureteric bud morphogenesisGO:00016589.6WT1, SOX9
2regulation of apoptotic processGO:00429819.3SOX9, ACTN4
3positive regulation of male gonad developmentGO:020000209.2SOX9, SRY, WT1
4male gonad developmentGO:00085849.1WT1, SOX9, LHX9
5negative regulation of transcription, DNA-templatedGO:00458929.0WT1, SOX9, LHX9
6positive regulation of transcription, DNA-templatedGO:00458939.0SOX9, SRY, WT1
7protein complex assemblyGO:00064618.8SOX9, CD2AP

Molecular functions related to Frasier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.4WT1, SOX9
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.2SRY, SOX9
3beta-catenin bindingGO:00080139.1CD2AP, SOX9
4sequence-specific DNA binding transcription factor activityGO:00037009.0WT1, SOX9, LHX9

Products for genes affiliated with Frasier Syndrome

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Sources for Frasier Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet