FS
MCID: FRS002
MIFTS: 49

Frasier Syndrome (FS)

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

Aliases & Classifications for Frasier Syndrome

MalaCards integrated aliases for Frasier Syndrome:

Name: Frasier Syndrome 57 12 75 53 25 59 74 29 13 55 6 44 15 40 72
Fs 25 74

Characteristics:

Orphanet epidemiological data:

59
frasier syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
phenotypic overlap with denys-drash syndrome ().


HPO:

32
frasier syndrome:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:0050438
OMIM 57 136680
MeSH 44 D052159
NCIt 50 C122805
MESH via Orphanet 45 D052159
ICD10 via Orphanet 34 N04.1
UMLS via Orphanet 73 C0950122
Orphanet 59 ORPHA347
MedGen 42 C0950122
UMLS 72 C0950122

Summaries for Frasier Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 347DefinitionFrasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.EpidemiologyPrevalence of this rare disease is unknown.Clinical descriptionPatients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood.EtiologyHeterozygous mutations in the WT1 gene have been found in women affected by Frasier syndrome. The WT1 gene contains 10 exons and codes for a zinc-finger DNA-binding protein. This protein plays an important role in renal and gonadal development. Mutations responsible for Frasier syndrome are located in intron 9, an alternative splicing site, and lead to the loss or haploinsufficiency of the WT1+KTS isoform, a transcription factor.Diagnostic methodsHistologically, glomerular lesions are not specific. They consist of minimal glomerular lesions associated with segmental and focal glomerular hyalinosis. In women, the diagnosis may be made during investigation for primary amenorrhea, or, in some cases, after renal transplant when nephropathy has progressed to renal failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Frasier Syndrome, also known as fs, is related to denys-drash syndrome and gonadal dysgenesis. An important gene associated with Frasier Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and ovary, and related phenotypes are glomerulopathy and male pseudohermaphroditism

Disease Ontology : 12 An autosomal dominant disease that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.

Genetics Home Reference : 25 Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.

OMIM : 57 Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997). (136680)

UniProtKB/Swiss-Prot : 74 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 : 75 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene)... more...

Related Diseases for Frasier Syndrome

Diseases related to Frasier Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 denys-drash syndrome 31.4 WT1 NPHS2 NPHS1
2 gonadal dysgenesis 31.1 WT1 SOX9
3 gonadoblastoma 31.1 WT1 SOX9
4 46 xy gonadal dysgenesis 30.3 WT1 SOX9
5 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.1 WT1-AS WT1
6 glomerulonephritis 29.7 NPHS2 NPHS1
7 nephrotic syndrome 29.7 WT1 NPHS2 NPHS1
8 end stage renal failure 29.7 WT1 NPHS2 NPHS1
9 focal segmental glomerulosclerosis 29.6 WT1 NPHS2 NPHS1
10 hypospadias 29.6 WT1 SOX9
11 kidney disease 29.3 WT1 NPHS2 NPHS1
12 diffuse mesangial sclerosis 28.7 WT1-AS WT1 NPHS2 NPHS1
13 wilms tumor 1 28.5 WT1-AS WT1 NPHS2 NPHS1
14 wilms tumor 5 10.6
15 pseudohermaphroditism 10.6
16 amenorrhea 10.5
17 dysgerminoma 10.3
18 nephrotic syndrome, type 4 10.3
19 hypogonadism 10.3
20 hypogonadotropism 10.3
21 meacham syndrome 10.1 WT1-AS WT1
22 46,xy partial gonadal dysgenesis 10.1 WT1 SOX9
23 46,xy sex reversal 3 10.1
24 squamous cell papilloma 10.1
25 sex development disorder 10.1
26 papilloma 10.1
27 hermaphroditism 10.1
28 wilms tumor predisposition 10.1
29 persistent mullerian duct syndrome 10.0 WT1 SOX9
30 wilson-turner x-linked mental retardation syndrome 10.0 WT1-AS WT1
31 cryptorchidism, unilateral or bilateral 10.0
32 testicular germ cell tumor 10.0
33 autosomal recessive disease 10.0
34 alport syndrome 10.0
35 leiomyoma 10.0
36 nephronophthisis 10.0
37 astrocytoma 10.0
38 sertoli cell tumor 10.0
39 seminoma 10.0
40 embryoma 10.0
41 proliferative glomerulonephritis 10.0
42 mesangial proliferative glomerulonephritis 10.0
43 dysgerminoma of ovary 10.0
44 testicular germ cell cancer 10.0
45 bladder transitional cell papilloma 10.0
46 germ cells tumors 10.0
47 horseshoe kidney 10.0
48 pilocytic astrocytoma 10.0
49 crescentic glomerulonephritis 10.0 WT1 NPHS2
50 kidney hypertrophy 9.7 NPHS2 NPHS1

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



Diseases related to Frasier Syndrome

Symptoms & Phenotypes for Frasier Syndrome

Human phenotypes related to Frasier Syndrome:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glomerulopathy 59 32 obligate (100%) Obligate (100%) HP:0100820
2 male pseudohermaphroditism 59 32 obligate (100%) Obligate (100%) HP:0000037
3 ambiguous genitalia, male 59 32 obligate (100%) Obligate (100%) HP:0000033
4 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
5 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000837
6 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
7 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
8 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
9 gonadal dysgenesis with female appearance, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0008723
10 focal segmental glomerulosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000097
11 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
12 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
13 gonadoblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0000150
14 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
15 streak ovary 59 32 frequent (33%) Frequent (79-30%) HP:0010464
16 nephroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002667
17 gonadal dysgenesis 32 HP:0000133
18 stage 5 chronic kidney disease 32 HP:0003774
19 ovarian gonadoblastoma 32 HP:0000149

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
primary amenorrhea

Genitourinary Internal Genitalia Female:
gonadoblastoma
pure gonadal dysgenesis

Genitourinary Kidneys:
nephrotic syndrome
chronic renal failure
focal and segmental glomerular sclerosis

Genitourinary Internal Genitalia Male:
gonadoblastoma
pure gonadal dysgenesis

Neoplasia:
gonadoblastoma

Genitourinary External Genitalia Male:
male pseudohermaphroditism

Clinical features from OMIM:

136680

MGI Mouse Phenotypes related to Frasier Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 NPHS1 NPHS2 SOX9 WT1

Drugs & Therapeutics for Frasier Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry for Patients With WT1 Mutation Associated Diseases Completed NCT01252901
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Frasier Syndrome

Cochrane evidence based reviews: frasier syndrome

Genetic Tests for Frasier Syndrome

Genetic tests related to Frasier Syndrome:

# Genetic test Affiliating Genes
1 Frasier Syndrome 29 WT1

Anatomical Context for Frasier Syndrome

MalaCards organs/tissues related to Frasier Syndrome:

41
Kidney, Ovary, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Metanephric Mesenchyme Metanephric Mesenchyme Cells Affected by disease

Publications for Frasier Syndrome

Articles related to Frasier Syndrome:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 9 38 8 71
9499425 1998
2
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 9 38 8 71
9398852 1997
3
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. 38 8 71
12050205 2002
4
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 9 38 71
10571943 1999
5
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 9 38 71
10094551 1999
6
A cell-autonomous role for WT1 in regulating Sry in vivo. 38 8
19549635 2009
7
Distinct molecular origins for Denys-Drash and Frasier syndromes. 38 8
8386697 1993
8
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. 38 8
1478624 1992
9
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 71
9529364 1998
10
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 71
1658787 1991
11
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 8
1655284 1991
12
Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. 8
3591796 1987
13
A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. 8
3895900 1985
14
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. 8
331956 1977
15
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS. 8
14149008 1964
16
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 9 38
20497763 2010
17
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 9 38
20150449 2010
18
Frasier syndrome, a potential cause of end-stage renal failure in childhood. 9 38
19921279 2010
19
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 9 38
19653292 2009
20
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. 9 38
19711733 2009
21
WT1 gene mutations in three girls with nephrotic syndrome. 9 38
17541636 2008
22
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. 9 38
17694336 2007
23
Complete sex reversal in a WAGR syndrome patient. 9 38
17935232 2007
24
Nephropathy and defective spermatogenesis in mice transgenic for a single isoform of the Wilms' tumour suppressor protein, WT1-KTS, together with one disrupted Wt1 allele. 9 38
16967512 2007
25
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 9 38
17061122 2007
26
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 9 38
16932893 2006
27
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. 9 38
16909243 2006
28
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation. 9 38
16780544 2006
29
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. 9 38
16440249 2006
30
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. 9 38
12932885 2003
31
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. 9 38
15357247 2003
32
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 9 38
12199335 2002
33
WT1 proteins: functions in growth and differentiation. 9 38
11595161 2001
34
The human sex-determining gene SRY is a direct target of WT1. 9 38
11278460 2001
35
Clinical spectrum of Denys-Drash and Frasier syndrome. 9 38
11354777 2001
36
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. 9 38
10792605 2000
37
Genetics of the nephrotic syndrome. 9 38
10763762 2000
38
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 9 38
10762296 2000
39
Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. 9 38
10586431 1999
40
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 9 38
10670748 1999
41
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. 9 38
10505699 1999
42
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 9 38
10505700 1999
43
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? 9 38
9475094 1998
44
[Analysis of solid ovarian tumours in a Spanish paediatric population]. 38
30975583 2019
45
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome. 38
30651406 2019
46
[Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy]. 38
30293282 2018
47
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 38
29668062 2018
48
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. 38
28434637 2017
49
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. 38
28668903 2017
50
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. 38
27885584 2017

Variations for Frasier Syndrome

ClinVar genetic disease variations for Frasier Syndrome:

6 (show top 50) (show all 257)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1): c.812del (p.Pro271fs) deletion Pathogenic rs1060501253 11:32449577-32449577 11:32428031-32428031
2 WT1 NM_024426.6(WT1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs1423753702 11:32417947-32417947 11:32396401-32396401
3 WT1 NC_000011.9: g.(?_32417797)_(32439206_?)del deletion Pathogenic 11:32417797-32439206 11:32396251-32417660
4 WT1 NM_024426.6(WT1): c.334del (p.Asp112fs) deletion Pathogenic rs1554946600 11:32456573-32456573 11:32435027-32435027
5 WT1 NM_024426.6(WT1): c.682dup (p.Asp228fs) duplication Pathogenic rs1554945232 11:32450145-32450145 11:32428599-32428599
6 WT1 NC_000011.9: g.(?_32410604)_(32456891_?)del deletion Pathogenic 11:32410604-32456891 11:32389058-32435345
7 WT1 NM_024426.6(WT1): c.1149del (p.Val384fs) deletion Pathogenic rs1554939839 11:32417918-32417918 11:32396372-32396372
8 WT1 NM_024426.6(WT1): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs1554946500 11:32456429-32456429 11:32434883-32434883
9 WT1 NM_024426.6(WT1): c.1447+6T> A single nucleotide variant Pathogenic rs587776575 11:32413512-32413512 11:32391966-32391966
10 WT1 NM_024426.6(WT1): c.1399C> T (p.Arg467Trp) single nucleotide variant Pathogenic rs121907900 11:32413566-32413566 11:32392020-32392020
11 WT1 NM_024426.6(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 11:32413513-32413513 11:32391967-32391967
12 WT1 NM_024426.6(WT1): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs121907909 11:32413578-32413578 11:32392032-32392032
13 WT1 NM_024426.6(WT1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121907906 11:32414263-32414263 11:32392717-32392717
14 WT1 NM_024426.6(WT1): c.1447+4C> T single nucleotide variant Pathogenic rs587776577 11:32413514-32413514 11:32391968-32391968
15 WT1 NM_024426.6(WT1): c.1393T> C (p.Phe465Leu) single nucleotide variant Pathogenic rs28941779 11:32413572-32413572 11:32392026-32392026
16 WT1 NM_024426.6(WT1): c.653del (p.Arg218fs) deletion Pathogenic 11:32456254-32456254 11:32434708-32434708
17 WT1 NM_024426.6(WT1): c.882C> A (p.Tyr294Ter) single nucleotide variant Pathogenic 11:32449507-32449507 11:32427961-32427961
18 WT1 NC_000011.9: g.(?_32410594)_(32456901_?)del deletion Pathogenic 11:32410594-32456901 11:32389048-32435355
19 WT1 NM_024426.6(WT1): c.965+1G> A single nucleotide variant Likely pathogenic 11:32439122-32439122 11:32417576-32417576
20 WT1 NM_024426.6(WT1): c.911C> T (p.Ser304Phe) single nucleotide variant Likely pathogenic rs267602852 11:32439177-32439177 11:32417631-32417631
21 WT1 NM_024426.6(WT1): c.760C> T (p.Pro254Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 11:32450067-32450067 11:32428521-32428521
22 WT1 NM_024426.6(WT1): c.1131T> C (p.Pro377=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 11:32417936-32417936 11:32396390-32396390
23 WT1 NM_024426.6(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 11:32421544-32421544 11:32399998-32399998
24 WT1 NM_024426.6(WT1): c.662-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 11:32450171-32450171 11:32428625-32428625
25 WT1 NM_024426.6(WT1): c.375C> T (p.Gly125=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 11:32456532-32456532 11:32434986-32434986
26 WT1 NM_024426.6(WT1): c.381C> G (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 11:32456526-32456526 11:32434980-32434980
27 WT1 NM_024426.6(WT1): c.151del (p.Ala51fs) deletion Conflicting interpretations of pathogenicity rs776155094 11:32456756-32456756 11:32435210-32435210
28 WT1 NM_024426.6(WT1): c.1059C> T (p.Ile353=) single nucleotide variant Conflicting interpretations of pathogenicity rs527655625 11:32421548-32421548 11:32400002-32400002
29 WT1 NM_024426.6(WT1): c.887+4G> A single nucleotide variant Uncertain significance rs778673400 11:32449498-32449498 11:32427952-32427952
30 WT1 NM_024426.6(WT1): c.162C> G (p.Ser54Arg) single nucleotide variant Uncertain significance rs776954184 11:32456745-32456745 11:32435199-32435199
31 WT1 NM_024426.6(WT1): c.1198T> C (p.Tyr400His) single nucleotide variant Uncertain significance rs746353651 11:32417869-32417869 11:32396323-32396323
32 WT1 NM_024426.6(WT1): c.587G> A (p.Gly196Asp) single nucleotide variant Uncertain significance rs753112302 11:32456320-32456320 11:32434774-32434774
33 WT1 NM_024426.6(WT1): c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg) indel Uncertain significance 11:32421586-32421587 11:32400040-32400041
34 WT1 NM_024426.6(WT1): c.736A> G (p.Asn246Asp) single nucleotide variant Uncertain significance 11:32450091-32450091 11:32428545-32428545
35 WT1 NM_024426.6(WT1): c.440A> G (p.Gln147Arg) single nucleotide variant Uncertain significance 11:32456467-32456467 11:32434921-32434921
36 WT1 NM_024426.6(WT1): c.397C> A (p.Pro133Thr) single nucleotide variant Uncertain significance 11:32456510-32456510 11:32434964-32434964
37 WT1 NM_024426.6(WT1): c.352G> A (p.Ala118Thr) single nucleotide variant Uncertain significance 11:32456555-32456555 11:32435009-32435009
38 WT1 NM_024426.6(WT1): c.277_279GGC[3] (p.Gly96del) short repeat Uncertain significance 11:32456619-32456621 11:32435073-32435075
39 WT1 NM_024426.6(WT1): c.121C> G (p.Pro41Ala) single nucleotide variant Uncertain significance 11:32456786-32456786 11:32435240-32435240
40 WT1 NM_024426.6(WT1): c.1029G> T (p.Gly343=) single nucleotide variant Uncertain significance 11:32421578-32421578 11:32400032-32400032
41 WT1 NM_024426.6(WT1): c.685G> A (p.Gly229Arg) single nucleotide variant Uncertain significance 11:32450142-32450142 11:32428596-32428596
42 WT1 NM_024426.6(WT1): c.641A> C (p.Gln214Pro) single nucleotide variant Uncertain significance 11:32456266-32456266 11:32434720-32434720
43 WT1 NM_024426.6(WT1): c.586G> A (p.Gly196Ser) single nucleotide variant Uncertain significance 11:32456321-32456321 11:32434775-32434775
44 WT1 NM_024426.6(WT1): c.344C> A (p.Pro115His) single nucleotide variant Uncertain significance 11:32456563-32456563 11:32435017-32435017
45 WT1 NM_024426.6(WT1): c.1124G> C (p.Arg375Pro) single nucleotide variant Uncertain significance 11:32417943-32417943 11:32396397-32396397
46 WT1 NM_024426.6(WT1): c.689C> T (p.Thr230Met) single nucleotide variant Uncertain significance 11:32450138-32450138 11:32428592-32428592
47 WT1 NM_024426.6(WT1): c.480G> C (p.Gln160His) single nucleotide variant Uncertain significance 11:32456427-32456427 11:32434881-32434881
48 WT1 NM_024426.6(WT1): c.425A> C (p.His142Pro) single nucleotide variant Uncertain significance 11:32456482-32456482 11:32434936-32434936
49 WT1 NM_024426.6(WT1): c.386C> T (p.Pro129Leu) single nucleotide variant Uncertain significance 11:32456521-32456521 11:32434975-32434975
50 WT1 NM_024426.6(WT1): c.26C> G (p.Pro9Arg) single nucleotide variant Uncertain significance 11:32456881-32456881 11:32435335-32435335

UniProtKB/Swiss-Prot genetic disease variations for Frasier Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 WT1 p.Phe392Leu VAR_015060

Copy number variations for Frasier Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 53589 11 31000000 36400000 Copy number WT1 Frasier syndrome

Expression for Frasier Syndrome

Search GEO for disease gene expression data for Frasier Syndrome.

Pathways for Frasier Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.28 WT1 SOX9
2 10.67 WT1 NPHS2 NPHS1
3 10.37 NPHS2 NPHS1

GO Terms for Frasier Syndrome

Cellular components related to Frasier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

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

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.32 WT1 SOX9
2 branching involved in ureteric bud morphogenesis GO:0001658 9.26 WT1 SOX9
3 excretion GO:0007588 9.16 NPHS2 NPHS1
4 glomerular basement membrane development GO:0032836 8.96 WT1 NPHS1
5 positive regulation of male gonad development GO:2000020 8.62 WT1 SOX9

Molecular functions related to Frasier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 WT1 SOX9

Sources for Frasier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
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