FS
MCID: FRS002
MIFTS: 53

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 56 12 74 52 25 58 73 29 13 54 6 43 15 39 71
Fs 25 73

Characteristics:

Orphanet epidemiological data:

58
frasier syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
phenotypic overlap with denys-drash syndrome .


HPO:

31
frasier syndrome:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050438
OMIM 56 136680
MeSH 43 D052159
NCIt 49 C122805
MESH via Orphanet 44 D052159
ICD10 via Orphanet 33 N04.1
UMLS via Orphanet 72 C0950122
Orphanet 58 ORPHA347
MedGen 41 C0950122
UMLS 71 C0950122

Summaries for Frasier Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 347 Definition A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Epidemiology To date, less than 150 cases have been described. Clinical description Nephropathy is the hallmark of the disease. It develops during childhood presenting as persistent proteinuria and subsequently steroid-resistant nephrotic syndrome (SRNS) and progresses to end-stage renal disease (ESRD) in the second or third decade of life. On renal biopsy , focal segmental glomeruloscrelosis (FSGS) is the most common histopathological finding. Individuals have a 46, XY karyotype and present with female external genitalia, complete gonadal dysgenesis and have a higher risk of gonadoblastoma. These individuals are later evaluated for delayed puberty or primary amenorrhea. Since (modest) breast development occurs also without estrogen stimulus, failure to recognize a delayed puberty is not rare. In addition, the clinical picture may be confused by attributing pubertal delay to previous immunosuppressive therapy, renal insufficiency itself or renal transplantation. Complete gonadal dysgenesis results in infertility, female external genitalia and presence of Mullerian structures. Wilms tumor is not common in individuals with Frasier syndrome. Etiology Frasier syndrome has been associated to specific pathogenic variants affecting nucleotides 4-5 of the intron 9 (previously referred to as IVS9+4; IVS9+5) in the WT1 gene (11p13). WT1 encodes for a protein that serves as regulatory transcription factor important both for renal and gonadal development. Diagnostic methods The diagnosis is suspected on childhood onset of progressive glomerulopathy with findings of FSGS on histological analysis. Phenotypic females with delayed puberty or primary amenorrhea, should be carefully evaluated for signs of nephropathy. When the clinical findings suggest the diagnosis of WT1 associated disorders, single gene testing of the hotspot 8-9 exons with adjacent introns can be performed. Karyotype testing is recommended for all individuals with WT1 intron 9 pathogenic variants. Differential diagnosis The main differential diagnosis is idiopathic steroid-resistant nephrotic syndrome, and other WT1 associated diseases including Denys-Drash syndrome, genetic steroid resistant nephrotic syndrome and disorders of testicular development. Genetic counseling Most affected individuals have a de novo pathogenic variant and hence negative family history ; however, autosomal dominant inheritance has been reported. Where karyotyping is indicated, pre-testing genetic counselling on the possibility of detecting sex reversal should be offered. Management and treatment Management is multidisciplinary and should involve a nephrologist for management of chronic renal failure (initially with nephroprotective medical therapy and afterwards with renal replacement therapies or transplantation when ESRD occurs), an endocrinologists for treatment of associated disorder of testicular development, and oncologists and surgeons to evaluate the need for an early gonadectomy in order to prevent tumorigenesis. Preemptive bilateral gonadectomy at the time of renal transplant or placement of a peritoneal dialysis catheter might be an option. Prognosis There is limited information on life expectancy. After kidney transplantation, nephrotic syndrome does not recur. 46,XY individuals with complete gonadal dysgenesis are infertile. Visit the Orphanet disease page for more resources.

MalaCards based summary : Frasier Syndrome, also known as fs, is related to pseudohermaphroditism and gonadoblastoma. An important gene associated with Frasier Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin interactions. Affiliated tissues include Kidney, breast and testes, and related phenotypes are glomerulopathy and male pseudohermaphroditism

Disease Ontology : 12 A syndrome 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 : 56 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 : 73 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 : 74 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 87)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 30.6 WT1 SRY NR5A1
2 gonadoblastoma 30.4 WT1 SRY SOX9 NR5A1
3 diffuse mesangial sclerosis 30.3 WT1 PLCE1 NPHS2 NPHS1 LOC107982234
4 denys-drash syndrome 30.2 WT1 TRPC6 PLCE1 NR5A1 NPHS2 NPHS1
5 end stage renal failure 30.1 WT1 PLCE1 NUP107 NPHS2 NPHS1
6 kidney disease 29.8 WT1 TRPC6 NPHS2 NPHS1 LMX1B CD2AP
7 hermaphroditism 29.8 SRY SOX9 NR5A1
8 46 xy gonadal dysgenesis 29.7 WT1 SRY SOX9 NR5A1
9 hypospadias 29.6 WT1 SRY SOX9 NR5A1
10 gonadal dysgenesis 29.6 WT1 SRY SOX9 NUP107 NR5A1
11 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.5 WT1 NR5A1 NPHS1 LOC107982234
12 cryptorchidism, unilateral or bilateral 29.3 WT1 SOX9 NR5A1
13 wilms tumor 1 28.9 WT1 SRY NR5A1 NPHS2 NPHS1 LOC107982234
14 nephrotic syndrome 28.0 WT1 TRPC6 SMARCAL1 PLCE1 NUP107 NPHS2
15 genetic steroid-resistant nephrotic syndrome 27.7 WT1 TRPC6 PLCE1 NUP107 NPHS2 NPHS1
16 focal segmental glomerulosclerosis 27.0 WT1 TRPC6 SMARCAL1 PLCE1 NUP107 NPHS2
17 wilms tumor 5 10.6
18 amenorrhea 10.5
19 genetic nephrotic syndrome 10.4 WT1 NPHS2
20 meacham syndrome 10.4 WT1 LOC107982234
21 ovarian gonadoblastoma 10.3 WT1 SOX9
22 dysgerminoma 10.3
23 iga nephropathy 1 10.3 NPHS2 NPHS1
24 kidney hypertrophy 10.3 NPHS2 NPHS1
25 46,xy sex reversal 1 10.3 SRY SOX9
26 nephrotic syndrome, type 4 10.3
27 hypogonadism 10.3
28 hypogonadotropism 10.3
29 glomerular disease 10.2 NPHS2 NPHS1 CD2AP
30 crescentic glomerulonephritis 10.2 WT1 NPHS2 ACTN4
31 hypoparathyroidism, sensorineural deafness, and renal disease 10.2 NPHS2 NPHS1 ACTN4
32 glomerulonephritis 10.2
33 congenital syphilis 10.2 PLCE1 NPHS2 NPHS1
34 46,xy sex reversal 3 10.1
35 squamous cell papilloma 10.1
36 sex development disorder 10.1
37 papilloma 10.1
38 wilms tumor predisposition 10.1
39 acute proliferative glomerulonephritis 10.1 NPHS2 NPHS1
40 focal segmental glomerulosclerosis 7 10.0 INF2 COQ8B
41 focal segmental glomerulosclerosis 9 10.0 INF2 COQ8B
42 focal segmental glomerulosclerosis 8 10.0 INF2 COQ8B
43 testicular germ cell tumor 10.0
44 autosomal recessive disease 10.0
45 alport syndrome 10.0
46 leiomyoma 10.0
47 nephronophthisis 10.0
48 astrocytoma 10.0
49 sertoli cell tumor 10.0
50 seminoma 10.0

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glomerulopathy 58 31 obligate (100%) Obligate (100%) HP:0100820
2 male pseudohermaphroditism 58 31 obligate (100%) Obligate (100%) HP:0000037
3 ambiguous genitalia, male 58 31 obligate (100%) Obligate (100%) HP:0000033
4 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
5 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
6 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
7 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
8 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
9 gonadal dysgenesis with female appearance, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0008723
10 focal segmental glomerulosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000097
11 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
12 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
13 gonadoblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0000150
14 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
15 streak ovary 58 31 frequent (33%) Frequent (79-30%) HP:0010464
16 nephroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002667
17 gonadal dysgenesis 31 HP:0000133
18 stage 5 chronic kidney disease 31 HP:0003774
19 ovarian gonadoblastoma 31 HP:0000149

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ACTN4 CD2AP COQ2 INF2 LMX1B NPHS2
2 homeostasis/metabolism MP:0005376 9.9 ACTN4 CD2AP COQ2 LMX1B NPHS1 NPHS2
3 mortality/aging MP:0010768 9.7 ACTN4 CD2AP COQ2 COQ8B LMX1B NPHS1
4 renal/urinary system MP:0005367 9.23 ACTN4 CD2AP LMX1B NPHS1 NPHS2 SMARCAL1

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:

40
Kidney, Breast, Testes, 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. 54 61 56 6
9499425 1998
2
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 54 61 56 6
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. 61 56 6
12050205 2002
4
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 54 61 6
10571943 1999
5
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 54 61 6
10094551 1999
6
A cell-autonomous role for WT1 in regulating Sry in vivo. 61 56
19549635 2009
7
Distinct molecular origins for Denys-Drash and Frasier syndromes. 61 56
8386697 1993
8
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. 61 56
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. 6
9529364 1998
10
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 6
1658787 1991
11
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 56
1655284 1991
12
Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. 56
3591796 1987
13
A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. 56
3895900 1985
14
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. 56
331956 1977
15
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS. 56
14149008 1964
16
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 54 61
20497763 2010
17
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 54 61
20150449 2010
18
Frasier syndrome, a potential cause of end-stage renal failure in childhood. 54 61
19921279 2010
19
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 54 61
19653292 2009
20
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. 54 61
19711733 2009
21
WT1 gene mutations in three girls with nephrotic syndrome. 54 61
17541636 2008
22
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. 54 61
17694336 2007
23
Complete sex reversal in a WAGR syndrome patient. 54 61
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. 54 61
16967512 2007
25
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 54 61
17061122 2007
26
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 54 61
16932893 2006
27
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. 54 61
16909243 2006
28
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation. 54 61
16780544 2006
29
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. 54 61
16440249 2006
30
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. 54 61
12932885 2003
31
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. 54 61
15357247 2003
32
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 54 61
12199335 2002
33
WT1 proteins: functions in growth and differentiation. 54 61
11595161 2001
34
The human sex-determining gene SRY is a direct target of WT1. 54 61
11278460 2001
35
Clinical spectrum of Denys-Drash and Frasier syndrome. 54 61
11354777 2001
36
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. 54 61
10792605 2000
37
Genetics of the nephrotic syndrome. 54 61
10763762 2000
38
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 54 61
10762296 2000
39
Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. 54 61
10586431 1999
40
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. 54 61
10505699 1999
41
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 54 61
10670748 1999
42
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 54 61
10505700 1999
43
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? 54 61
9475094 1998
44
[Analysis of solid ovarian tumours in a Spanish paediatric population]. 61
30975583 2020
45
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome. 61
30651406 2019
46
[Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy]. 61
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. 61
29668062 2018
48
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. 61
28434637 2017
49
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. 61
28668903 2017
50
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. 61
27885584 2017

Variations for Frasier Syndrome

ClinVar genetic disease variations for Frasier Syndrome:

6 (show top 50) (show all 206) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1447+6T>ASNV Pathogenic 3486 rs587776575 11:32413512-32413512 11:32391966-32391966
2 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
3 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
4 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
5 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
6 WT1 NM_024426.6(WT1):c.1447+4C>TSNV Pathogenic 3500 rs587776577 11:32413514-32413514 11:32391968-32391968
7 WT1 NM_024426.6(WT1):c.1393T>C (p.Phe465Leu)SNV Pathogenic 3504 rs28941779 11:32413572-32413572 11:32392026-32392026
8 WT1 NM_024426.6(WT1):c.812del (p.Pro271fs)deletion Pathogenic 406680 rs1060501253 11:32449577-32449577 11:32428031-32428031
9 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
10 WT1 NC_000011.9:g.(?_32417797)_(32439206_?)deldeletion Pathogenic 476672 11:32417797-32439206 11:32396251-32417660
11 WT1 NM_024426.6(WT1):c.334del (p.Asp112fs)deletion Pathogenic 476700 rs1554946600 11:32456573-32456573 11:32435027-32435027
12 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs)duplication Pathogenic 476713 rs1554945232 11:32450144-32450145 11:32428598-32428599
13 WT1 NC_000011.9:g.(?_32410604)_(32456891_?)deldeletion Pathogenic 543163 11:32410604-32456891 11:32389058-32435345
14 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs)deletion Pathogenic 543120 rs1554939839 11:32417918-32417918 11:32396372-32396372
15 WT1 NM_024426.6(WT1):c.478C>T (p.Gln160Ter)SNV Pathogenic 543125 rs1554946500 11:32456429-32456429 11:32434883-32434883
16 WT1 NM_024426.6(WT1):c.653del (p.Arg218fs)deletion Pathogenic 571628 rs1565000973 11:32456254-32456254 11:32434708-32434708
17 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)SNV Pathogenic 645008 11:32449507-32449507 11:32427961-32427961
18 WT1 NC_000011.9:g.(?_32410594)_(32456901_?)deldeletion Pathogenic 665054 11:32410594-32456901 11:32389048-32435355
19 WT1 NM_024426.6(WT1):c.965+1G>ASNV Likely pathogenic 661942 11:32439122-32439122 11:32417576-32417576
20 WT1 NM_024426.6(WT1):c.911C>T (p.Ser304Phe)SNV Likely pathogenic 78338 rs267602852 11:32439177-32439177 11:32417631-32417631
21 WT1 NM_024426.6(WT1):c.151del (p.Ala51fs)deletion Conflicting interpretations of pathogenicity 265295 rs776155094 11:32456756-32456756 11:32435210-32435210
22 WT1 NM_024426.6(WT1):c.887+4G>ASNV Uncertain significance 304421 rs778673400 11:32449498-32449498 11:32427952-32427952
23 WT1 NM_024426.6(WT1):c.162C>G (p.Ser54Arg)SNV Uncertain significance 304429 rs776954184 11:32456745-32456745 11:32435199-32435199
24 WT1 NM_024426.6(WT1):c.1198T>C (p.Tyr400His)SNV Uncertain significance 304419 rs746353651 11:32417869-32417869 11:32396323-32396323
25 WT1 NM_024426.6(WT1):c.587G>A (p.Gly196Asp)SNV Uncertain significance 304423 rs753112302 11:32456320-32456320 11:32434774-32434774
26 WT1 NM_024426.6(WT1):c.977G>C (p.Gly326Ala)SNV Uncertain significance 403610 rs766054482 11:32438075-32438075 11:32416529-32416529
27 WT1 NM_024426.6(WT1):c.584C>G (p.Ser195Cys)SNV Uncertain significance 406700 rs778194188 11:32456323-32456323 11:32434777-32434777
28 WT1 NM_024426.6(WT1):c.343C>T (p.Pro115Ser)SNV Uncertain significance 406698 rs916583720 11:32456564-32456564 11:32435018-32435018
29 WT1 NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)SNV Uncertain significance 406689 rs1060501258 11:32417865-32417865 11:32396319-32396319
30 WT1 NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)SNV Uncertain significance 406687 rs150194429 11:32421507-32421507 11:32399961-32399961
31 WT1 NM_024426.6(WT1):c.600G>A (p.Met200Ile)SNV Uncertain significance 406685 rs1060501257 11:32456307-32456307 11:32434761-32434761
32 WT1 NM_024426.6(WT1):c.439C>G (p.Gln147Glu)SNV Uncertain significance 406695 rs953087575 11:32456468-32456468 11:32434922-32434922
33 WT1 NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)SNV Uncertain significance 406697 rs748864758 11:32417856-32417856 11:32396310-32396310
34 WT1 NM_024426.6(WT1):c.765G>T (p.Met255Ile)SNV Uncertain significance 406683 rs1060501255 11:32450062-32450062 11:32428516-32428516
35 WT1 NM_024426.6(WT1):c.747C>G (p.Phe249Leu)SNV Uncertain significance 406696 rs1060501259 11:32450080-32450080 11:32428534-32428534
36 WT1 NM_024426.6(WT1):c.411_413GCC[5] (p.Pro141dup)short repeat Uncertain significance 406690 rs760304811 11:32456484-32456485 11:32434938-32434939
37 WT1 NM_024426.6(WT1):c.404C>T (p.Pro135Leu)SNV Uncertain significance 406681 rs769642496 11:32456503-32456503 11:32434957-32434957
38 WT1 NM_024426.6(WT1):c.34A>C (p.Thr12Pro)SNV Uncertain significance 406699 rs764111950 11:32456873-32456873 11:32435327-32435327
39 WT1 NM_024426.6(WT1):c.1124G>A (p.Arg375His)SNV Uncertain significance 406692 rs554416372 11:32417943-32417943 11:32396397-32396397
40 WT1 NM_024426.6(WT1):c.653G>T (p.Arg218Leu)SNV Uncertain significance 406691 rs756414084 11:32456254-32456254 11:32434708-32434708
41 WT1 NM_024426.6(WT1):c.609C>G (p.Asn203Lys)SNV Uncertain significance 406694 rs2234583 11:32456298-32456298 11:32434752-32434752
42 WT1 NM_024426.6(WT1):c.548G>A (p.Gly183Glu)SNV Uncertain significance 406684 rs1060501256 11:32456359-32456359 11:32434813-32434813
43 WT1 NM_024426.6(WT1):c.421C>T (p.Pro141Ser)SNV Uncertain significance 406693 rs750548251 11:32456486-32456486 11:32434940-32434940
44 WT1 NM_024426.6(WT1):c.286G>A (p.Gly96Ser)SNV Uncertain significance 406682 rs1060501254 11:32456621-32456621 11:32435075-32435075
45 WT1 NM_024426.6(WT1):c.1092C>A (p.His364Gln)SNV Uncertain significance 135454 rs587778756 11:32421515-32421515 11:32399969-32399969
46 WT1 NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)SNV Uncertain significance 135455 rs147241955 11:32417913-32417913 11:32396367-32396367
47 WT1 NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)SNV Uncertain significance 135456 rs144788858 11:32414262-32414262 11:32392716-32392716
48 WT1 NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)SNV Uncertain significance 241477 rs139893274 11:32410704-32410704 11:32389158-32389158
49 WT1 NM_024426.6(WT1):c.661+6T>CSNV Uncertain significance 241485 rs557166021 11:32456240-32456240 11:32434694-32434694
50 WT1 NM_024426.6(WT1):c.416C>G (p.Pro139Arg)SNV Uncertain significance 241482 rs878855085 11:32456491-32456491 11:32434945-32434945

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

73
# Symbol AA change Variation ID SNP ID
1 WT1 p.Phe392Leu VAR_015060

Copy number variations for Frasier Syndrome from CNVD:

7
# CNVD ID Chromosome 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 11.19 WT1 TRPC6 SMARCAL1 PLCE1 NPHS2 NPHS1
2 10.67 NPHS1 CD2AP ACTN4
3 10.67 TRPC6 NPHS2 NPHS1 CD2AP

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 nuclear transcription factor complex GO:0044798 8.96 SRY SOX9
2 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 WT1 SRY SOX9 NR5A1
2 male gonad development GO:0008584 9.61 WT1 SOX9 NR5A1
3 female gonad development GO:0008585 9.48 NUP107 NR5A1
4 adrenal gland development GO:0030325 9.46 WT1 NR5A1
5 ubiquinone biosynthetic process GO:0006744 9.4 COQ8B COQ2
6 glomerular basement membrane development GO:0032836 9.37 WT1 NPHS1
7 glomerulus development GO:0032835 9.32 WT1 PLCE1
8 sex determination GO:0007530 9.26 WT1 NR5A1
9 negative regulation of female gonad development GO:2000195 9.16 WT1 NR5A1
10 male sex determination GO:0030238 9.13 SRY SOX9 NR5A1
11 positive regulation of male gonad development GO:2000020 8.92 WT1 SRY SOX9 NR5A1

Sources for Frasier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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