FS
MCID: FRS002
MIFTS: 55

Frasier Syndrome (FS)

Categories: 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 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:



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 denys-drash syndrome and gonadoblastoma. 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 hypertension and renal insufficiency

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.

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.

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 52)
# Related Disease Score Top Affiliating Genes
1 denys-drash syndrome 31.4 WT1 PDGFA NR5A1 NPHS2 NPHS1 CD2AP
2 gonadoblastoma 30.8 WT1 SRY SOX9
3 gonadal dysgenesis 30.2 WT1 SRY SOX9 NR5A1 FGF9 AMH
4 46 xy gonadal dysgenesis 30.1 WT1 SRY SOX9 NR5A1
5 end stage renal failure 30.0 WT1 PLCE1 NPHS2 NPHS1
6 focal segmental glomerulosclerosis 1 30.0 NPHS1 ACTN4
7 focal segmental glomerulosclerosis 29.8 WT1 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
8 hermaphroditism 10.3 SRY SOX9
9 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.3 NPHS2 CD2AP
10 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 WT1 PLCE1
11 46,xy sex reversal 1 10.2 SRY SOX9
12 meacham syndrome 10.2 WT1-AS WT1
13 anorchia 10.2 SRY NR5A1
14 atrial septal defect 3 10.2 NPHS2 NPHS1 CD2AP
15 dysgerminoma 10.2
16 hypoparathyroidism, sensorineural deafness, and renal disease 10.2 NPHS2 NPHS1 ACTN4
17 46,xx sex reversal 1 10.2 SRY SOX9 NR5A1
18 lipoid nephrosis 10.2 NPHS1 CD2AP NPHS2
19 galloway-mowat syndrome 10.1 NPHS2 NPHS1 ACTN4
20 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1 PAX6 WT1 WT1-AS
21 kidney hypertrophy 10.1 NPHS2 NPHS1
22 mixed gonadal dysgenesis 10.1 SRY SOX9 AMH
23 membranous nephropathy 10.1 NPHS2 NPHS1 CD2AP
24 46,xy partial gonadal dysgenesis 10.1 WT1 SRY SOX9 NR5A1
25 gonadal agenesis 10.1 LHX9 NR5A1
26 urinary system disease 10.1 WT1 NPHS2 NPHS1
27 nephrotic syndrome, type 6 10.1 WT1 PLCE1 NPHS2 NPHS1
28 hypospadias 10.1 WT1 SRY SOX9 NR5A1
29 freemartinism 10.1 SRY AMH
30 wilms tumor 6 10.1
31 chronic kidney failure 10.1 WT1 NPHS2 NPHS1 ACTN4
32 gonadal disease 10.1 SRY NR5A1 AMH
33 pseudohermaphroditism 10.0 WT1 SRY NR5A1 AMH
34 cryptorchidism, unilateral or bilateral 10.0 WT1 SRY NR5A1 AMH
35 nephrotic syndrome, type 1 10.0 WT1 NPHS2 NPHS1 CD2AP ACTN4
36 premature ovarian failure 1 10.0 WT1 SRY NR5A1 AMH
37 male reproductive organ benign neoplasm 10.0 WT1 NR5A1
38 kidney disease 10.0 WT1 NPHS2 NPHS1 CD2AP ACTN4
39 persistent mullerian duct syndrome 10.0 WT1 SRY SOX9 NR5A1 AMH
40 alport syndrome, x-linked 9.9
41 nephronophthisis 9.9
42 amenorrhea 9.9
43 astrocytoma 9.9
44 sertoli cell tumor 9.9
45 seminoma 9.9
46 pilocytic astrocytoma 9.9
47 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.9 WT1 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
48 nephrotic syndrome 9.9 WT1 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
49 familial nephrotic syndrome 9.9 WT1 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
50 campomelic dysplasia 9.9 ZFY SRY SOX9

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

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

GenomeRNAi Phenotypes related to Frasier Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.09 TIA1
2 Decreased viability GR00381-A-1 10.09 CMIP LHX9 PDGFA TIA1 WT1 ZFY
3 Decreased viability GR00402-S-2 10.09 ACTN4 AMH CD2AP CMIP FGF9 LHX9
4 no effect GR00402-S-1 9.62 ACTN4 AMH CD2AP CMIP FGF9 LHX9

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 ACTN4 AMH CD2AP CMIP FGF9 LHX9
5 mortality/aging MP:0010768 10.1 ACTN4 CD2AP CMIP FGF9 NPHS1 NPHS2
6 embryo MP:0005380 10.06 ACTN4 CMIP FGF9 NR5A1 PAX6 PDGFA
7 muscle MP:0005369 9.8 ACTN4 FGF9 PAX6 PDGFA PLCE1 SOX9
8 neoplasm MP:0002006 9.63 ACTN4 AMH CMIP PAX6 PLCE1 WT1
9 renal/urinary system MP:0005367 9.61 ACTN4 CD2AP FGF9 NPHS1 NPHS2 PAX6
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, Breast, Colon, Eye, Liver, Thyroid
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 1032)
# Title Authors Year
1
Characteristics of PCDD/Fs and metals in surface soil around an iron and steel plant in North China Plain. ( 30384311 )
2019
2
Bioequivalence of fluticasone propionate and salmeterol (FS) given by the FS Spiromax® and Seretide Accuhaler® systems
. ( 30431426 )
2019
3
FS-7 inhibits MGC-803 cells growth in vitro and in vivo via down-regulating glycolysis. ( 30551420 )
2019
4
Vector Analysis of the Effects of FS-LASIK and Toric ICL for Moderate to High Astigmatism Correction. ( 30147948 )
2018
5
Three-year outcomes of small incision lenticule extraction (SMILE) and femtosecond laser-assisted laser in situ keratomileusis (FS-LASIK) for myopia and myopic astigmatism. ( 30061116 )
2018
6
Seasonal variations of PCDD/Fs in fishes: inferring a hidden exposure route from Na-PCP application for schistosomiasis control. ( 29556731 )
2018
7
Correction to: Seasonal variations of PCDD/Fs in fishes: inferring a hidden exposure route from Na-PCP application for schistosomiasis control. ( 29744678 )
2018
8
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family. ( 29665173 )
2018
9
CSF3R T618I, ASXL1 G942 fs and STAT5B N642H trimutation co-contribute to a rare chronic neutrophilic leukaemia manifested by rapidly progressive leucocytosis, severe infections, persistent fever and deep venous thrombosis. ( 27984641 )
2018
10
172  fs, 24.3  kW peak power pulse generation from a Ho-doped fiber laser system. ( 30272697 )
2018
11
Sub-80  fs mode-locked Tm,Ho-codoped disordered garnet crystal oscillator operating at 2081  nm. ( 30320843 )
2018
12
87  fs mode-locked Tm,Ho:CaYAlO4 laser at ∼2043  nm. ( 29444026 )
2018
13
Cytocompatibility of Biodentine and iRoot FS with human periodontal ligament cells: an in vitro study. ( 29350756 )
2018
14
Levels of PCDD/Fs, PBDEs, and PBDD/Fs in Breast Milk from Southern Taiwan. ( 29368304 )
2018
15
High-power Yb-based all-fiber laser delivering 300  fs pulses for high-speed ablation-cooled material removal. ( 29400834 )
2018
16
Polychlorinated dibenzo-P-dioxins and dibenzofurans (PCDD/Fs) and dioxin-like polychlorinated biphenyls (dl-PCBS) in bivalve mollusk from Galician Rías (N. W., SPAIN). ( 29407842 )
2018
17
Seasonal variations of PCDD/Fs congeners in air, soil and eggs from a Polish small-scale farm. ( 29433032 )
2018
18
Tracing the sources of PCDD/Fs in Baltic Sea air by using metals as source markers. ( 29450432 )
2018
19
Levels, sources, and potential human health risks of PCNs, PCDD/Fs, and PCBs in an industrial area of Shandong Province, China. ( 29453064 )
2018
20
Ozone assisted oxidation of gaseous PCDD/Fs over CNTs-containing composite catalysts at low temperature. ( 29455121 )
2018
21
Emission characteristics of PCDD/Fs in stack gas from municipal solid waste incineration plants in Northern China. ( 29471165 )
2018
22
Concentrations of trace elements and PCDD/Fs around a municipal solid waste incinerator in Girona (Catalonia, Spain). Human health risks for the population living in the neighborhood. ( 29471189 )
2018
23
Critical behavior within 20 fs drives the out-of-equilibrium laser-induced magnetic phase transition in nickel. ( 29511738 )
2018
24
Coherent midinfrared supercontinuum generation using a rib waveguide pumped with 200  fs laser pulses at 2.8  μm. ( 29522020 )
2018
25
The health risk levels of different age groups of residents living in the vicinity of municipal solid waste incinerator posed by PCDD/Fs in atmosphere and soil. ( 29524905 )
2018
26
Active pump-seed-pulse synchronization for OPCPA with sub-2-fs residual timing jitter: erratum. ( 29529754 )
2018
27
High power sub 100-fs Kerr-lens mode-locked Yb:YSO laser pumped by single-mode fiber laser. ( 29529792 )
2018
28
Pre-chirp managed, core-pumped nonlinear PM fiber amplifier delivering sub-100-fs and high energy (10 nJ) pulses with low noise. ( 29529835 )
2018
29
Corneal Densitometry after Femtosecond Laser-Assisted In Situ Keratomileusis (Fs-LASIK) and Small Incision Lenticule Extraction (SMILE). ( 29537886 )
2018
30
Metabolomics Identifies Distinctive Metabolite Signatures for Measures of Glucose Homeostasis: The Insulin Resistance Atherosclerosis Family Study (IRAS-FS). ( 29546329 )
2018
31
Catalytic decomposition of PCDD/Fs on a V2O5-WO3/nano-TiO2 catalyst: effect of NaCl. ( 29569197 )
2018
32
Atmospheric concentrations and gas-particle partitioning of PCDD/Fs and dioxin-like PCBs around Hochiminh city. ( 29571145 )
2018
33
Characterization of heavy metals and PCDD/Fs from water-washing pretreatment and a cement kiln co-processing municipal solid waste incinerator fly ash. ( 29573924 )
2018
34
Corneal Biomechanical Properties after FS-LASIK with Residual Bed Thickness Less Than 50% of the Original Corneal Thickness. ( 29576876 )
2018
35
Highly efficient generation of 0.2 mJ terahertz pulses in lithium niobate at room temperature with sub-50 fs chirped Ti:sapphire laser pulses. ( 29609397 )
2018
36
Synergy of iron and copper oxides in the catalytic formation of PCDD/Fs from 2-monochlorophenol. ( 29614415 )
2018
37
Laser-synthesized nanocrystalline, ferroelectric, bioactive BaTiO3/Pt/FS for bone implants. ( 29621929 )
2018
38
Corrigendum to "Gas/particle partitioning and particle size distribution of PCDD/Fs and PCBs in urban ambient air" [Sci. Total Environ. 624 (2018) 170-179]. ( 29649713 )
2018
39
65-fs Yb-doped all-fiber laser using tapered fiber for nonlinearity and dispersion management. ( 29652351 )
2018
40
Generation of coherent extreme ultraviolet radiation from α-quartz using 50  fs laser pulses at a 1030  nm wavelength and high repetition rates. ( 29652365 )
2018
41
Noise-like pulses with a 14.5 fs spike generated in an Yb-doped fiber nonlinear amplifier. ( 29652396 )
2018
42
Assessment of POPs in air from Spain using passive sampling from 2008 to 2015. Part II: Spatial and temporal observations of PCDD/Fs and dl-PCBs. ( 29685685 )
2018
43
Occurrence and characteristics of PCDD/Fs formed from Chlorobenzenes production in China. ( 29702346 )
2018
44
Flexible and broadly tunable infrared light source based on shaped sub-10-fs pulses for a multimodal microscopy setup. ( 29714744 )
2018
45
Sub-4 fs laser pulses at high average power and high repetition rate from an all-solid-state setup. ( 29715854 )
2018
46
Highly-stable mode-locked PM Yb-fiber laser with 10 nJ in 93-fs at 6 MHz using NALM. ( 29715980 )
2018
47
Faster Simulations with a 5 fs Time Step for Lipids in the CHARMM Force Field. ( 29750867 )
2018
48
Association of prenatal exposure to PCDD/Fs and PCBs with maternal and infant thyroid hormones: The Hokkaido Study on Environment and Children's Health. ( 29751429 )
2018
49
PCBs and PCDD/Fs in Bluefin Tuna: Occurrence and Dietary Intake. ( 29751587 )
2018
50
Inhibition of element sulfur and calcium oxide on the formation of PCDD/Fs during co-combustion experiment of municipal solid waste. ( 29758879 )
2018

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 420)
# 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.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh37 Chromosome 11, 32414263: 32414263
10 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh38 Chromosome 11, 32392717: 32392717
11 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
12 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh37 Chromosome 11, 32413514: 32413514
13 WT1 NM_024426.4(WT1): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic rs28941779 GRCh37 Chromosome 11, 32413572: 32413572
14 WT1 NM_024426.4(WT1): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic rs28941779 GRCh38 Chromosome 11, 32392026: 32392026
15 WT1 NM_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh37 Chromosome 11, 32421544: 32421544
16 WT1 NM_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh38 Chromosome 11, 32399998: 32399998
17 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh37 Chromosome 11, 32410710: 32410710
18 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh38 Chromosome 11, 32389164: 32389164
19 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 NCBI36 Chromosome 11, 32367286: 32367286
20 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh37 Chromosome 11, 32421568: 32421568
21 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh38 Chromosome 11, 32400022: 32400022
22 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 NCBI36 Chromosome 11, 32378144: 32378144
23 WT1 NM_024426.4(WT1): c.745C> T (p.Pro249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 GRCh37 Chromosome 11, 32450067: 32450067
24 WT1 NM_024426.4(WT1): c.745C> T (p.Pro249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 GRCh38 Chromosome 11, 32428521: 32428521
25 WT1 NM_024426.4(WT1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs147241955 GRCh37 Chromosome 11, 32417913: 32417913
26 WT1 NM_024426.4(WT1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs147241955 GRCh38 Chromosome 11, 32396367: 32396367
27 WT1 NM_024426.4(WT1): c.1289G> A (p.Arg430Gln) single nucleotide variant Uncertain significance rs144788858 GRCh37 Chromosome 11, 32414262: 32414262
28 WT1 NM_024426.4(WT1): c.1289G> A (p.Arg430Gln) single nucleotide variant Uncertain significance rs144788858 GRCh38 Chromosome 11, 32392716: 32392716
29 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
30 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
31 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
32 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
33 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh37 Chromosome 11, 32417936: 32417936
34 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh38 Chromosome 11, 32396390: 32396390
35 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
36 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
37 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh37 Chromosome 11, 32410704: 32410704
38 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh38 Chromosome 11, 32389158: 32389158
39 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
40 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
41 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh38 Chromosome 11, 32417597: 32417597
42 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh37 Chromosome 11, 32439143: 32439143
43 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh38 Chromosome 11, 32428054: 32428054
44 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh37 Chromosome 11, 32449600: 32449600
45 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh38 Chromosome 11, 32428625: 32428625
46 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh37 Chromosome 11, 32450171: 32450171
47 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh38 Chromosome 11, 32434694: 32434694
48 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh37 Chromosome 11, 32456240: 32456240
49 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh38 Chromosome 11, 32434818: 32434818
50 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh37 Chromosome 11, 32456364: 32456364

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 nuclear transcription factor complex GO:0044798 8.96 SOX9 SRY
2 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.98 AMH FGF9 NR5A1 PAX6 SOX9 SRY
2 positive regulation of transcription, DNA-templated GO:0045893 9.97 NR5A1 PAX6 SOX9 SRY WT1
3 positive regulation of gene expression GO:0010628 9.8 AMH FGF9 NR5A1 PAX6 SOX9 WT1
4 female gonad development GO:0008585 9.6 LHX9 NR5A1
5 sex differentiation GO:0007548 9.59 AMH SRY
6 tissue development GO:0009888 9.58 NR5A1 WT1
7 adrenal gland development GO:0030325 9.58 NR5A1 WT1
8 gonad development GO:0008406 9.56 AMH WT1
9 male gonad development GO:0008584 9.55 FGF9 LHX9 NR5A1 SOX9 WT1
10 glomerular basement membrane development GO:0032836 9.54 NPHS1 WT1
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FGF9 PDGFA SOX9
12 glomerulus development GO:0032835 9.52 PLCE1 WT1
13 lacrimal gland development GO:0032808 9.51 PAX6 SOX9
14 regulation of timing of cell differentiation GO:0048505 9.48 FGF9 PAX6
15 positive regulation of epithelial cell differentiation GO:0030858 9.46 PAX6 SOX9
16 sex determination GO:0007530 9.43 AMH NR5A1 WT1
17 negative regulation of female gonad development GO:2000195 9.4 NR5A1 WT1
18 male sex determination GO:0030238 9.26 FGF9 NR5A1 SOX9 SRY
19 positive regulation of male gonad development GO:2000020 8.92 NR5A1 SOX9 SRY WT1
20 regulation of transcription, DNA-templated GO:0006355 10.1 LHX9 NR5A1 PAX6 SOX9 SRY WT1
21 regulation of transcription by RNA polymerase II GO:0006357 10.09 LHX9 NR5A1 PAX6 SOX9 WT1 ZFY

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 9.8 NR5A1 PAX6 SOX9 SRY WT1 ZNF274
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.67 PAX6 SOX9 SRY WT1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 LHX9 NR5A1 PAX6 SOX9 SRY WT1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
5 sequence-specific DNA binding GO:0043565 9.1 LHX9 NR5A1 PAX6 SOX9 WT1 ZNF274
6 protein binding GO:0005515 10.09 ACTN4 CD2AP CMIP LHX9 NPHS1 NPHS2

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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