MCID: FRS002
MIFTS: 50

Frasier Syndrome

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

Aliases & Classifications for Frasier Syndrome

MalaCards integrated aliases for Frasier Syndrome:

Name: Frasier Syndrome 57 38 12 76 53 25 59 75 29 13 55 6 44 15 40 73
Fs 25 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
phenotypic overlap with denys-drash syndrome .


HPO:

32
frasier syndrome:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 136680
Disease Ontology 12 DOID:0050438
MeSH 44 D052159
NCIt 50 C122805
SNOMED-CT 68 445431000
Orphanet 59 ORPHA347
MESH via Orphanet 45 D052159
UMLS via Orphanet 74 C0950122
ICD10 via Orphanet 34 N04.1
MedGen 42 C0950122
UMLS 73 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: 347Disease definitionFrasier 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.EtiologyHeterozygousmutations 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 gonadoblastoma and denys-drash syndrome. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include Kidney, kidney and ovary, and related phenotypes are ambiguous genitalia, male and male pseudohermaphroditism

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 : 75 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 : 25 Frasier syndrome is a condition that affects the kidneys and genitalia.

Wikipedia : 76 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 51)
# Related Disease Score Top Affiliating Genes
1 gonadoblastoma 31.2 SOX9 SRY WT1
2 denys-drash syndrome 30.7 CD2AP NPHS1 NPHS2 NR5A1 PDGFA WT1
3 46 xy gonadal dysgenesis 30.2 NR5A1 SOX9 SRY WT1
4 end stage renal failure 30.1 NPHS1 NPHS2 PLCE1 WT1
5 gonadal dysgenesis 30.0 AMH NR5A1 SOX9 SRY WT1
6 focal segmental glomerulosclerosis 1 29.3 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
7 focal segmental glomerulosclerosis 29.3 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
8 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.8 CD2AP NPHS2
9 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.8 PLCE1 WT1
10 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.7 NPHS1 NPHS2
11 meacham syndrome 10.7 WT1 WT1-AS
12 atrial septal defect 3 10.6 CD2AP NPHS1 NPHS2
13 46,xx sex reversal 1 10.6 NR5A1 SOX9 SRY
14 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.6 NPHS1 PLCE1 WT1
15 anorchia 10.6 NR5A1 SRY
16 hypoparathyroidism, sensorineural deafness, and renal disease 10.6 ACTN4 NPHS1 NPHS2
17 lipoid nephrosis 10.5 CD2AP NPHS1 NPHS2
18 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.4 PAX6 WT1 WT1-AS
19 galloway-mowat syndrome 10.4 ACTN4 NPHS1 NPHS2
20 46,xy partial gonadal dysgenesis 10.4 NR5A1 SOX9 SRY WT1
21 iga glomerulonephritis 10.4 CD2AP NPHS1 NPHS2
22 mixed gonadal dysgenesis 10.4 AMH SOX9 SRY
23 membranous nephropathy 10.4 CD2AP NPHS1 NPHS2
24 gonadal agenesis 10.3 LHX9 NR5A1
25 hypospadias 10.3 NR5A1 SOX9 SRY WT1
26 kidney hypertrophy 10.3 NPHS1 NPHS2
27 freemartinism 10.3 AMH SRY
28 chronic kidney failure 10.3 ACTN4 NPHS1 NPHS2 WT1
29 gonadal disease 10.2 AMH NR5A1 SRY
30 chiasmal syndrome 10.2 CD2AP PAX6
31 reproductive system disease 10.2 AMH NR5A1 SRY
32 wilms tumor 1 10.1 NPHS2 NR5A1 SRY WT1 WT1-AS
33 pseudohermaphroditism 10.1 AMH NR5A1 SRY WT1
34 nephrotic syndrome, type 1 10.1 ACTN4 CD2AP NPHS1 NPHS2 WT1
35 cryptorchidism, unilateral or bilateral 10.1 AMH NR5A1 SRY WT1
36 hermaphroditism 10.1 SOX9 SRY
37 premature ovarian failure 1 10.0 AMH NR5A1 WT1
38 kidney disease 10.0 ACTN4 CD2AP NPHS1 NPHS2 WT1
39 wilms tumor 5 9.9
40 wilms tumor 6 9.9
41 persistent mullerian duct syndrome 9.9 AMH NR5A1 SOX9 SRY WT1
42 alport syndrome, x-linked 9.8
43 nephronophthisis 9.8
44 amenorrhea 9.8
45 astrocytoma 9.8
46 sertoli cell tumor 9.8
47 seminoma 9.8
48 pilocytic astrocytoma 9.8
49 familial nephrotic syndrome 9.8 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
50 nephrotic syndrome 9.7 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1

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



Diseases related to Frasier Syndrome

Symptoms & Phenotypes for Frasier Syndrome

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

GenitourinaryInternal GenitaliaMale:
gonadoblastoma
pure gonadal dysgenesis

Neoplasia:
gonadoblastoma

Genitourinary External Genitalia Male:
male pseudohermaphroditism


Clinical features from OMIM:

136680

Human phenotypes related to Frasier Syndrome:

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

MGI Mouse Phenotypes related to Frasier Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACTN4 CD2AP CMIP FGF9 NPHS2 NR5A1
2 homeostasis/metabolism MP:0005376 10.18 ACTN4 AMH CD2AP FGF9 LHX9 NPHS1
3 growth/size/body region MP:0005378 10.14 ACTN4 CD2AP FGF9 LHX9 NPHS2 NR5A1
4 endocrine/exocrine gland MP:0005379 10.13 NR5A1 PAX6 SOX9 WT1 ACTN4 AMH
5 mortality/aging MP:0010768 10.1 PAX6 PDGFA SOX9 TIA1 WT1 NR5A1
6 embryo MP:0005380 10.06 NR5A1 PAX6 PDGFA SOX9 WT1 ACTN4
7 muscle MP:0005369 9.8 WT1 ACTN4 FGF9 PAX6 PDGFA PLCE1
8 neoplasm MP:0002006 9.63 ACTN4 AMH CMIP PAX6 PLCE1 WT1
9 renal/urinary system MP:0005367 9.56 ACTN4 CD2AP NPHS1 NPHS2 PAX6 PDGFA
10 reproductive system MP:0005389 9.23 AMH FGF9 LHX9 NR5A1 PAX6 PDGFA

Drugs & Therapeutics for Frasier Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases Completed NCT01252901
2 Rare Disease Patient Registry & Natural History Study - 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
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 all 47)
# Title Authors Year
1
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
2
Total Laparoscopic Colocolpopoiesis in a Kidney transplant Recipient With Frasier Syndrome. ( 26516816 )
2015
3
Gonadal Tumor in Frasier Syndrome: A Review and Classification. ( 25623218 )
2015
4
Proteinuria in Frasier syndrome. ( 24364235 )
2013
5
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C&amp;gt;T mutation. ( 22908070 )
2012
6
Frasier syndrome: four new cases with unusual presentations. ( 23295293 )
2012
7
Recurrence of a dysgerminoma in Frasier syndrome. ( 20408995 )
2011
8
Frasier syndrome in 17-year-old girl--case report. ( 21853939 )
2011
9
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. ( 20497763 )
2010
10
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. ( 20419325 )
2010
11
Frasier syndrome, a potential cause of end-stage renal failure in childhood. ( 19921279 )
2010
12
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. ( 19711733 )
2009
13
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. ( 19653292 )
2009
14
Expanding the clinical spectrum of Frasier syndrome. ( 17378674 )
2008
15
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. ( 18271004 )
2008
16
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. ( 17694336 )
2007
17
Frasier syndrome: a rare cause of delayed puberty. ( 16760553 )
2006
18
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. ( 16440249 )
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 in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. ( 16915373 )
2006
22
Frasier syndrome comes full circle: genetic studies performed in an original patient. ( 15973330 )
2005
23
Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome? ( 14977287 )
2004
24
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. ( 15658629 )
2004
25
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. ( 12932885 )
2003
26
Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). ( 12592634 )
2003
27
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. ( 15357247 )
2003
28
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. ( 12722046 )
2003
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&amp;gt;T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. ( 12050205 )
2002
32
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. ( 12106750 )
2002
33
A girl with bilateral ovarian tumours: Frasier syndrome. ( 11954756 )
2002
34
Clinical spectrum of Denys-Drash and Frasier syndrome. ( 11354777 )
2001
35
Frasier syndrome with childhood-onset renal failure. ( 11509863 )
2001
36
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. ( 11007843 )
2000
37
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? ( 10762296 )
2000
38
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. ( 10505699 )
1999
39
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. ( 10094551 )
1999
40
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. ( 10571943 )
1999
41
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. ( 10670748 )
1999
42
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? ( 9475094 )
1998
43
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. ( 9499425 )
1998
44
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. ( 9398852 )
1997
45
Frasier syndrome. ( 15251548 )
1996
46
Distinct molecular origins for Denys-Drash and Frasier syndromes. ( 8386697 )
1993
47
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. ( 1478624 )
1992

Variations for Frasier Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 WT1 p.Phe392Leu VAR_015060

ClinVar genetic disease variations for Frasier Syndrome:

6
(show top 50) (show all 348)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_001198551.1(WT1): c.787+15T> A single nucleotide variant Pathogenic rs587776575 GRCh38 Chromosome 11, 32391966: 32391966
2 WT1 NM_001198551.1(WT1): c.787+15T> A single nucleotide variant Pathogenic rs587776575 GRCh37 Chromosome 11, 32413512: 32413512
3 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
4 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh38 Chromosome 11, 32392020: 32392020
5 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh38 Chromosome 11, 32391967: 32391967
6 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh37 Chromosome 11, 32413513: 32413513
7 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
8 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh38 Chromosome 11, 32392032: 32392032
9 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
10 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh37 Chromosome 11, 32413514: 32413514
11 WT1 NM_024426.4(WT1): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic rs28941779 GRCh37 Chromosome 11, 32413572: 32413572
12 WT1 NM_024426.4(WT1): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic rs28941779 GRCh38 Chromosome 11, 32392026: 32392026
13 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
14 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
15 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
16 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
17 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh37 Chromosome 11, 32417936: 32417936
18 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh38 Chromosome 11, 32396390: 32396390
19 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
20 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
21 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh37 Chromosome 11, 32410704: 32410704
22 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh38 Chromosome 11, 32389158: 32389158
23 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
24 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
25 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh38 Chromosome 11, 32417597: 32417597
26 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh37 Chromosome 11, 32439143: 32439143
27 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh38 Chromosome 11, 32428054: 32428054
28 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh37 Chromosome 11, 32449600: 32449600
29 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh38 Chromosome 11, 32428625: 32428625
30 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh37 Chromosome 11, 32450171: 32450171
31 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh38 Chromosome 11, 32434694: 32434694
32 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh37 Chromosome 11, 32456240: 32456240
33 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh38 Chromosome 11, 32434818: 32434818
34 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh37 Chromosome 11, 32456364: 32456364
35 WT1 NM_024426.4(WT1): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs878855085 GRCh38 Chromosome 11, 32434945: 32434945
36 WT1 NM_024426.4(WT1): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs878855085 GRCh37 Chromosome 11, 32456491: 32456491
37 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh38 Chromosome 11, 32434986: 32434986
38 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh37 Chromosome 11, 32456532: 32456532
39 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh38 Chromosome 11, 32435052: 32435052
40 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh37 Chromosome 11, 32456598: 32456598
41 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh38 Chromosome 11, 32435145: 32435145
42 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh37 Chromosome 11, 32456691: 32456691
43 WT1 NM_024426.4(WT1): c.178G> A (p.Gly60Arg) single nucleotide variant Uncertain significance rs374404615 GRCh38 Chromosome 11, 32435168: 32435168
44 WT1 NM_024426.4(WT1): c.178G> A (p.Gly60Arg) single nucleotide variant Uncertain significance rs374404615 GRCh37 Chromosome 11, 32456714: 32456714
45 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh38 Chromosome 11, 32435180: 32435180
46 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh37 Chromosome 11, 32456726: 32456726
47 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh38 Chromosome 11, 32435278: 32435278
48 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh37 Chromosome 11, 32456824: 32456824
49 WT1 NM_024426.4(WT1): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs878855086 GRCh38 Chromosome 11, 32435291: 32435291
50 WT1 NM_024426.4(WT1): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs878855086 GRCh37 Chromosome 11, 32456837: 32456837

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

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 NPHS1 NPHS2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 NR5A1 PAX6 SOX9 SRY WT1
2 positive regulation of gene expression GO:0010628 9.91 AMH FGF9 NR5A1 PAX6 SOX9
3 cell-cell signaling GO:0007267 9.88 AMH FGF9 NR5A1 PDGFA
4 adrenal gland development GO:0030325 9.57 NR5A1 WT1
5 gonad development GO:0008406 9.55 AMH WT1
6 glomerulus development GO:0032835 9.54 PLCE1 WT1
7 glomerular basement membrane development GO:0032836 9.52 NPHS1 WT1
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.5 FGF9 PDGFA SOX9
9 lacrimal gland development GO:0032808 9.49 PAX6 SOX9
10 regulation of timing of cell differentiation GO:0048505 9.48 FGF9 PAX6
11 positive regulation of epithelial cell differentiation GO:0030858 9.43 PAX6 SOX9
12 male sex determination GO:0030238 9.43 FGF9 SOX9 SRY
13 negative regulation of female gonad development GO:2000195 9.37 NR5A1 WT1
14 male gonad development GO:0008584 9.35 FGF9 LHX9 NR5A1 SOX9 WT1
15 sex determination GO:0007530 9.33 AMH NR5A1 WT1
16 positive regulation of male gonad development GO:2000020 8.92 NR5A1 SOX9 SRY WT1
17 regulation of transcription by RNA polymerase II GO:0006357 10.01 LHX9 NR5A1 PAX6 SOX9 SRY WT1
18 cell differentiation GO:0030154 10 AMH FGF9 NR5A1 PAX6 SOX9 SRY

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.76 LHX9 NR5A1 PAX6 SOX9 SRY WT1
2 protein binding GO:0005515 9.58 ACTN4 CD2AP CMIP LHX9 NPHS1 NPHS2
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
4 sequence-specific DNA binding GO:0043565 9.43 LHX9 NR5A1 PAX6 SOX9 WT1 ZNF274

Sources for Frasier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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