FS
MCID: FRS002
MIFTS: 54

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 73 20 43 58 72 29 13 54 6 44 15 39 70
Fs 43 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 136680
MeSH 44 D052159
NCIt 50 C122805
SNOMED-CT 67 445431000
MESH via Orphanet 45 D052159
ICD10 via Orphanet 33 N04.1
UMLS via Orphanet 71 C0950122
Orphanet 58 ORPHA347
MedGen 41 C0950122
UMLS 70 C0950122

Summaries for Frasier Syndrome

GARD : 20 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.

MalaCards based summary : Frasier Syndrome, also known as fs, is related to gonadoblastoma 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, ovary and pituitary, 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.

MedlinePlus Genetics : 43 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 100)
# Related Disease Score Top Affiliating Genes
1 gonadoblastoma 31.2 WT1 SRY SOX9 NR5A1
2 gonadal dysgenesis 30.9 WT1 SRY SOX9 NUP107 NR5A1
3 pseudohermaphroditism 30.9 WT1 SRY SOX9 NR5A1 NPHS1
4 nephrotic syndrome, type 4 30.9 WT1 LOC107982234
5 proteinuria, chronic benign 30.6 NPHS2 NPHS1 INF2 CD2AP ACTN4
6 hypospadias 30.5 WT1 SRY SOX9 NR5A1
7 disorder of sexual development 30.5 WT1 SOX9 NR5A1
8 diffuse mesangial sclerosis 30.4 WT1 PLCE1 PAX2 NPHS2 NPHS1 LOC107982234
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.2 WT1 NR5A1 NPHS2 NPHS1 LOC107982234 LMX1B
10 denys-drash syndrome 30.1 WT1 TRPC6 PLCE1 PAX2 NUP107 NR5A1
11 kidney disease 30.0 WT1 TRPC6 PAX2 NPHS2 NPHS1 LMX1B
12 nephrotic syndrome, type 2 29.9 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
13 wilms tumor 1 29.9 WT1 SRY SOX9 PAX2 NR5A1 NPHS2
14 end stage renal disease 29.5 TRPC6 PAX2 NPHS2 NPHS1 INF2 CD2AP
15 alport syndrome 29.2 TRPC6 PLCE1 NPHS2 NPHS1 LMX1B INF2
16 genetic steroid-resistant nephrotic syndrome 28.7 WT1 TRPC6 PLCE1 PAX2 NUP107 NPHS2
17 focal segmental glomerulosclerosis 28.7 WT1 TRPC6 SMARCAL1 PLCE1 PAX2 NUP107
18 nephrotic syndrome 28.5 WT1 WDR73 TRPC6 SMARCAL1 PLCE1 PAX2
19 amenorrhea 10.5
20 meacham syndrome 10.4 WT1 LOC107982234
21 ovarian gonadoblastoma 10.4 WT1 SOX9
22 microcystic stromal tumor 10.3 WT1 NR5A1
23 glomerular disease 10.3 CD2AP ACTN4
24 nonsyndromic disorders of testicular development 10.3 SRY NR5A1
25 anorchia 10.3 SRY NR5A1
26 kidney hypertrophy 10.3 NPHS2 NPHS1
27 epididymal neoplasm 10.3 WT1 PAX2
28 ovarian sex-cord stromal tumor 10.3 WT1 NR5A1
29 crescentic glomerulonephritis 10.3 WT1 NPHS2 ACTN4
30 congenital syphilis 10.3 PLCE1 NPHS2 NPHS1
31 nivelon-nivelon-mabille syndrome 10.3 WT1 SOX9 NR5A1
32 46,xy sex reversal 9 10.3 WT1 SOX9 NR5A1
33 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS2 NPHS1 ACTN4
34 46,xx sex reversal 10.3 SRY SOX9 NR5A1
35 renal adenoma 10.3 WT1 PAX2
36 46,xy sex reversal 2 10.3 WT1 SOX9 NR5A1
37 persistent mullerian duct syndrome 10.3 WT1 SOX9 NR5A1
38 mixed gonadal dysgenesis 10.3 SRY SOX9 NR5A1
39 nephrotic syndrome, type 10 10.3 NPHS2 NPHS1
40 bladder clear cell adenocarcinoma 10.3 WT1 PAX2
41 campomelic dysplasia 10.3 SRY SOX9 NR5A1
42 endosalpingiosis 10.2 WT1 PAX2
43 focal segmental glomerulosclerosis 8 10.2 INF2 COQ8B
44 dysgerminoma 10.2
45 familial wilms tumor 2 10.2
46 focal segmental glomerulosclerosis 9 10.2 INF2 COQ8B
47 epididymis adenocarcinoma 10.2 WT1 PAX2
48 iga glomerulonephritis 10.2 NPHS2 NPHS1 CD2AP
49 epididymis cancer 10.2 WT1 PAX2
50 schimke immunoosseous dysplasia 10.2 SMARCAL1 NPHS2 LMX1B

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Frasier Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 ACTN4 ARHGAP24 CD2AP COQ2 INF2 LMX1B
2 mortality/aging MP:0010768 9.77 ACTN4 CD2AP COQ2 COQ8B LMX1B NPHS1
3 renal/urinary system MP:0005367 9.32 ACTN4 CD2AP COQ8B LMX1B NPHS1 NPHS2

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, 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 150)
# 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. 61 6 54 57
9499425 1998
2
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 54 61 6 57
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. 6 57 61
12050205 2002
4
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 6 57
1655284 1991
5
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 54 6 61
10571943 1999
6
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 6 54 61
10094551 1999
7
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? 6 54 61
9475094 1998
8
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 6
29668062 2018
9
Frasier syndrome: four new cases with unusual presentations. 6 61
23295293 2012
10
A cell-autonomous role for WT1 in regulating Sry in vivo. 57 61
19549635 2009
11
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. 61 6
16717397 2006
12
Distinct molecular origins for Denys-Drash and Frasier syndromes. 57 61
8386697 1993
13
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. 57 61
1478624 1992
14
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. 6
31937884 2020
15
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. 6
30963316 2019
16
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6
28204945 2017
17
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. 6
27300205 2017
18
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome‚Ä©. 6
27719739 2016
19
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 6
25818337 2015
20
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 6
24856380 2014
21
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. 6
23715653 2013
22
A review of the clinical and genetic aspects of aniridia. 6
24138039 2013
23
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6
23515051 2013
24
WT1, WTX and CTNNB1 mutation analysis in 43 patients with sporadic Wilms' tumor. 6
23117548 2013
25
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. 6
21384108 2011
26
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. 6
21508141 2011
27
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 6
21851196 2011
28
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 6
20442690 2010
29
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. 6
17630404 2007
30
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 6
17853480 2007
31
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. 6
15509792 2004
32
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 6
15150775 2004
33
Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT). 6
12471221 2002
34
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
35
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 6
9108089 1997
36
Inherited WT1 mutation in Denys-Drash syndrome. 6
1327525 1992
37
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 6
1338906 1992
38
Intragenic homozygous deletion of the WT1 gene in Wilms' tumor. 6
1350671 1992
39
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 6
1302008 1992
40
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 6
1658787 1991
41
Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. 57
3591796 1987
42
A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. 57
3895900 1985
43
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. 57
331956 1977
44
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS. 57
14149008 1964
45
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 54 61
20497763 2010
46
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 54 61
20150449 2010
47
Frasier syndrome, a potential cause of end-stage renal failure in childhood. 61 54
19921279 2010
48
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 54 61
19653292 2009
49
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. 54 61
19711733 2009
50
WT1 gene mutations in three girls with nephrotic syndrome. 54 61
17541636 2008

Variations for Frasier Syndrome

ClinVar genetic disease variations for Frasier Syndrome:

6 (show top 50) (show all 491)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WT1 NM_024426.6(WT1):c.1447+6T>A SNV Pathogenic 3486 rs587776575 GRCh37: 11:32413512-32413512
GRCh38: 11:32391966-32391966
2 WT1 NM_024426.6(WT1):c.1393T>C (p.Phe465Leu) SNV Pathogenic 3504 rs28941779 GRCh37: 11:32413572-32413572
GRCh38: 11:32392026-32392026
3 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) SNV Pathogenic 3494 rs121907909 GRCh37: 11:32413578-32413578
GRCh38: 11:32392032-32392032
4 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) SNV Pathogenic 3494 rs121907909 GRCh37: 11:32413578-32413578
GRCh38: 11:32392032-32392032
5 WT1 NM_024426.6(WT1):c.812del (p.Pro271fs) Deletion Pathogenic 406680 rs1060501253 GRCh37: 11:32449577-32449577
GRCh38: 11:32428031-32428031
6 WT1 NC_000011.10:g.(?_32396251)_(32417660_?)del Deletion Pathogenic 476672 GRCh37: 11:32417797-32439206
GRCh38: 11:32396251-32417660
7 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs) Duplication Pathogenic 476713 rs1554945232 GRCh37: 11:32450144-32450145
GRCh38: 11:32428598-32428599
8 WT1 , LOC107982234 NM_024426.6(WT1):c.334del (p.Asp112fs) Deletion Pathogenic 476700 rs1554946600 GRCh37: 11:32456573-32456573
GRCh38: 11:32435027-32435027
9 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) SNV Pathogenic 449416 rs1423753702 GRCh37: 11:32417947-32417947
GRCh38: 11:32396401-32396401
10 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs) Deletion Pathogenic 543120 rs1554939839 GRCh37: 11:32417918-32417918
GRCh38: 11:32396372-32396372
11 WT1 , LOC107982234 NM_024426.6(WT1):c.478C>T (p.Gln160Ter) SNV Pathogenic 543125 rs1554946500 GRCh37: 11:32456429-32456429
GRCh38: 11:32434883-32434883
12 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 GRCh37: 11:32414263-32414263
GRCh38: 11:32392717-32392717
13 WT1 , LOC107982234 NM_024426.6(WT1):c.653del (p.Arg218fs) Deletion Pathogenic 571628 rs1565000973 GRCh37: 11:32456254-32456254
GRCh38: 11:32434708-32434708
14 WT1 NM_024426.6(WT1):c.1316G>A (p.Arg439His) SNV Pathogenic 3488 rs121907901 GRCh37: 11:32414250-32414250
GRCh38: 11:32392704-32392704
15 WT1 NM_024426.6(WT1):c.1338C>A (p.His446Gln) SNV Pathogenic 973193 GRCh37: 11:32414228-32414228
GRCh38: 11:32392682-32392682
16 WT1 and overlap with 2 gene(s) NC_000011.10:g.(?_32389048)_(32435355_?)del Deletion Pathogenic 665054 GRCh37: 11:32410594-32456901
GRCh38: 11:32389048-32435355
17 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter) SNV Pathogenic 645008 rs1554945031 GRCh37: 11:32449507-32449507
GRCh38: 11:32427961-32427961
18 WT1 NC_000011.10:g.(?_32434690)_(32435345_?)del Deletion Pathogenic 833107 GRCh37: 11:32456236-32456891
GRCh38:
19 WT1 NC_000011.10:g.(?_32396247)_(32400054_?)del Deletion Pathogenic 833202 GRCh37: 11:32417793-32421600
GRCh38:
20 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 GRCh37: 11:32414263-32414263
GRCh38: 11:32392717-32392717
21 WT1 and overlap with 2 gene(s) NC_000011.10:g.(?_32389058)_(32435345_?)del Deletion Pathogenic 543163 GRCh37: 11:32410604-32456891
GRCh38: 11:32389058-32435345
22 WT1 NM_024426.6(WT1):c.897del (p.Leu299fs) Deletion Pathogenic 958253 GRCh37: 11:32439191-32439191
GRCh38: 11:32417645-32417645
23 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
24 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
25 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) SNV Pathogenic 3487 rs121907900 GRCh37: 11:32413566-32413566
GRCh38: 11:32392020-32392020
26 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
27 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
28 WT1 NM_024426.6(WT1):c.1114-1G>T SNV Likely pathogenic 943614 GRCh37: 11:32417954-32417954
GRCh38: 11:32396408-32396408
29 WT1 NM_024426.6(WT1):c.965+1G>A SNV Likely pathogenic 661942 rs771527206 GRCh37: 11:32439122-32439122
GRCh38: 11:32417576-32417576
30 WT1 NM_024426.6(WT1):c.1447+2T>C SNV Likely pathogenic 947309 GRCh37: 11:32413516-32413516
GRCh38: 11:32391970-32391970
31 WT1 NM_024426.6(WT1):c.911C>T (p.Ser304Phe) SNV Likely pathogenic 78338 rs267602852 GRCh37: 11:32439177-32439177
GRCh38: 11:32417631-32417631
32 WT1 , LOC107982234 NM_024426.6(WT1):c.326C>A (p.Pro109Gln) SNV Uncertain significance 950796 GRCh37: 11:32456581-32456581
GRCh38: 11:32435035-32435035
33 WT1 , LOC107982234 NM_024426.6(WT1):c.326C>G (p.Pro109Arg) SNV Uncertain significance 952112 GRCh37: 11:32456581-32456581
GRCh38: 11:32435035-32435035
34 WT1 NM_024426.6(WT1):c.1561G>C (p.Ala521Pro) SNV Uncertain significance 952350 GRCh37: 11:32410612-32410612
GRCh38: 11:32389066-32389066
35 WT1 , LOC107982234 NM_024426.6(WT1):c.62A>T (p.His21Leu) SNV Uncertain significance 955292 GRCh37: 11:32456845-32456845
GRCh38: 11:32435299-32435299
36 WT1 , LOC107982234 NM_024426.6(WT1):c.311C>G (p.Ala104Gly) SNV Uncertain significance 955820 GRCh37: 11:32456596-32456596
GRCh38: 11:32435050-32435050
37 WT1 NM_024426.6(WT1):c.1513G>C (p.Val505Leu) SNV Uncertain significance 956104 GRCh37: 11:32410660-32410660
GRCh38: 11:32389114-32389114
38 WT1 NM_024426.6(WT1):c.1012A>C (p.Ser338Arg) SNV Uncertain significance 957971 GRCh37: 11:32438040-32438040
GRCh38: 11:32416494-32416494
39 WT1 , LOC107982234 NM_024426.6(WT1):c.527C>T (p.Thr176Ile) SNV Uncertain significance 933906 GRCh37: 11:32456380-32456380
GRCh38: 11:32434834-32434834
40 WT1 , LOC107982234 NM_024426.6(WT1):c.392C>G (p.Pro131Arg) SNV Uncertain significance 937030 GRCh37: 11:32456515-32456515
GRCh38: 11:32434969-32434969
41 WT1 NM_024426.6(WT1):c.1013G>A (p.Ser338Asn) SNV Uncertain significance 939155 GRCh37: 11:32438039-32438039
GRCh38: 11:32416493-32416493
42 WT1 , LOC107982234 NM_024426.6(WT1):c.524G>A (p.Gly175Asp) SNV Uncertain significance 939598 GRCh37: 11:32456383-32456383
GRCh38: 11:32434837-32434837
43 WT1 , LOC107982234 NM_024426.6(WT1):c.598A>T (p.Met200Leu) SNV Uncertain significance 939853 GRCh37: 11:32456309-32456309
GRCh38: 11:32434763-32434763
44 WT1 , LOC107982234 NM_024426.6(WT1):c.293C>G (p.Ala98Gly) SNV Uncertain significance 939870 GRCh37: 11:32456614-32456614
GRCh38: 11:32435068-32435068
45 WT1 NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) SNV Uncertain significance 939929 GRCh37: 11:32410614-32410614
GRCh38: 11:32389068-32389068
46 WT1 , LOC107982234 NM_024426.6(WT1):c.169C>G (p.Arg57Gly) SNV Uncertain significance 940126 GRCh37: 11:32456738-32456738
GRCh38: 11:32435192-32435192
47 WT1 , LOC107982234 NM_024426.6(WT1):c.590A>G (p.Gln197Arg) SNV Uncertain significance 940567 GRCh37: 11:32456317-32456317
GRCh38: 11:32434771-32434771
48 WT1 NM_024426.6(WT1):c.883A>G (p.Ser295Gly) SNV Uncertain significance 941125 GRCh37: 11:32449506-32449506
GRCh38: 11:32427960-32427960
49 WT1 , LOC107982234 NM_024426.6(WT1):c.463G>A (p.Glu155Lys) SNV Uncertain significance 941538 GRCh37: 11:32456444-32456444
GRCh38: 11:32434898-32434898
50 WT1 , LOC107982234 NM_024426.6(WT1):c.577G>A (p.Ala193Thr) SNV Uncertain significance 806643 rs1590409175 GRCh37: 11:32456330-32456330
GRCh38: 11:32434784-32434784

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

72
# 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

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 8.8 TRPC6 NPHS2 NPHS1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.08 WT1 SRY SOX9 PAX2 NUP107 NR5A1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 WT1 SRY SOX9 PAX2 NR5A1 LMX1B
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 WT1 SRY SOX9 PAX2 NR5A1 ACTN4
4 male gonad development GO:0008584 9.73 WT1 SOX9 NR5A1
5 female gonad development GO:0008585 9.6 NUP107 NR5A1
6 cochlea morphogenesis GO:0090103 9.58 SOX9 PAX2
7 adrenal gland development GO:0030325 9.58 WT1 NR5A1
8 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.57 SOX9 PAX2
9 ubiquinone biosynthetic process GO:0006744 9.55 COQ8B COQ2
10 glomerular basement membrane development GO:0032836 9.52 WT1 NPHS1
11 mesenchymal to epithelial transition GO:0060231 9.51 WT1 PAX2
12 metanephric mesenchyme development GO:0072075 9.49 WT1 PAX2
13 glomerulus development GO:0032835 9.48 WT1 PLCE1
14 sex determination GO:0007530 9.46 WT1 NR5A1
15 ureter development GO:0072189 9.43 SOX9 PAX2
16 branching involved in ureteric bud morphogenesis GO:0001658 9.43 WT1 SOX9 PAX2
17 metanephric epithelium development GO:0072207 9.37 WT1 PAX2
18 metanephric nephron tubule formation GO:0072289 9.32 SOX9 PAX2
19 negative regulation of female gonad development GO:2000195 9.16 WT1 NR5A1
20 male sex determination GO:0030238 9.13 SRY SOX9 NR5A1
21 positive regulation of male gonad development GO:2000020 8.92 WT1 SRY SOX9 NR5A1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.1 WT1 SRY SOX9 PAX2 NR5A1 LMX1B

Sources for Frasier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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