MCID: FRS002
MIFTS: 51

Frasier Syndrome malady

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

Aliases & Classifications for Frasier Syndrome

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Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Frasier Syndrome:

Name: Frasier Syndrome 49 32 10 11 45 22 23 47 12 51 67 36 24 65
 
Fs 23 67

Characteristics:

Orphanet epidemiological data:

51
frasier syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
frasier syndrome:
Inheritance: somatic mutation, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 136680
Disease Ontology10 DOID:0050438
MeSH36 D052159
Orphanet51 347
SNOMED-CT59 445431000
ICD10 via Orphanet28 N04.1
MESH via Orphanet37 D052159
UMLS via Orphanet66 C0950122
MedGen34 C0950122
UMLS65 C0950122

Summaries for Frasier Syndrome

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OMIM:49 Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al.,... (136680) more...

MalaCards based summary: Frasier Syndrome, also known as fs, is related to nodular neuronal heterotopia and anorectal atresia, and has symptoms including primary amenorrhea, male pseudohermaphroditism and glomerulopathy. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin interactions and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, breast and bone, and related mouse phenotypes are normal and respiratory system.

UniProtKB/Swiss-Prot:67 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:23 Frasier syndrome is a condition that affects the kidneys and genitalia.

Wikipedia:68 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. more...

Related Diseases for Frasier Syndrome

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1nodular neuronal heterotopia10.5SOX9, SRY
2anorectal atresia10.4NR5A1, SRY
3pfeiffer syndrome type 310.4NPHS1, NPHS2
4autosomal recessive myogenic arthrogryposis multiplex congenita10.4CD2AP, NPHS1
5denys-drash syndrome10.4
6dysmorphism-short stature-deafness-disorder of sex development syndrome10.4NR5A1, SOX9, SRY
748,xxxy syndrome10.4NR5A1, SOX9, SRY
8actg2-related disorders10.4NR5A1, SRY
9swyer-james syndrome10.3NR5A1, SOX9, SRY
10uremic neuropathy10.3AMH, SRY
11caudal regression syndrome10.3MNX1, WT1
12breast-ovarian cancer, familial, 210.3FGF9, SOX9, SRY
13glomus tympanicum tumor10.3CD2AP, NPHS2
14spastic hemiplegia10.3CD2AP, NPHS1, NPHS2
15breast cancer10.3
16neuronitis10.3
17encephalitis10.3
1846 xx gonadal dysgenesis10.3AMH, SOX9, SRY
19cranial nerve disease10.3CD2AP, PAX6
20epidermolysis bullosa dystrophica10.3NPHS1, NPHS2, WT1
21nasopharyngeal carcinoma 210.3CD2AP, NPHS1, NPHS2
22pseudohermaphroditism10.2SOX9, SRY
23epithelial predominant wilms' tumor10.2MECOM, PAX6, WT1
24microcephaly10.2NR5A1, SRY, WT1
25hidradenitis suppurativa10.2AMH, NR5A1, SRY
26suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.2CD2AP, NPHS1, NPHS2, WT1
27diffuse neonatal hemangiomatosis10.2LAMB2, NPHS1, NPHS2, WT1
28short qt syndrome10.1AMH, NR5A1, SOX9, SRY
29corneal dystrophy, fuchs endothelial, 810.1ACTN4, LAMB2, NPHS1, NPHS2
30alternating hemiplegia of childhood10.1AMH, NR5A1, SOX9, SRY
31neuroblastoma10.1
32asthma10.1
33coronary artery disease10.1
34chondrosarcoma10.1
35ataxia-telangiectasia-like disorder10.1
36ataxia-telangiectasia10.1
37peutz-jeghers syndrome10.1
38hypoplastic left heart syndrome10.1
39exudative vitreoretinopathy10.1
40abdominal tuberculosis10.1
41artery disease10.1
42lymphoma10.1
43gastric lymphoma10.1
44acute cervicitis10.1
45eastern equine encephalitis10.1
46murray valley encephalitis10.1
47vertebral artery occlusion10.1
48right bundle branch block10.1
49addison's disease10.1
50neuronal ceroid lipofuscinosis10.1

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



Diseases related to frasier syndrome

Symptoms for Frasier Syndrome

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Symptoms by clinical synopsis from OMIM:

136680

Clinical features from OMIM:

136680

Symptoms:

 51 (show all 7)
  • male pseudohermaphrodism/lack of virilisation
  • late puberty/hypogonadism/hypogenitalism
  • primary amenorrhea
  • renal glomerular defect/glomerulopathy
  • renal failure
  • nephrotic syndrome
  • proteinuria

HPO human phenotypes related to Frasier Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 primary amenorrhea hallmark (90%) HP:0000786
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 glomerulopathy typical (50%) HP:0100820
4 nephrotic syndrome typical (50%) HP:0000100
5 proteinuria typical (50%) HP:0000093
6 renal insufficiency typical (50%) HP:0000083
7 stage 5 chronic kidney disease HP:0003774
8 primary amenorrhea HP:0000786
9 ovarian gonadoblastoma HP:0000149
10 gonadal dysgenesis HP:0000133
11 nephrotic syndrome HP:0000100
12 focal segmental glomerulosclerosis HP:0000097
13 male pseudohermaphroditism HP:0000037

Drugs & Therapeutics for Frasier Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated DiseasesCompletedNCT01252901

Search NIH Clinical Center for Frasier Syndrome


Cochrane evidence based reviews: frasier syndrome

Genetic Tests for Frasier Syndrome

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Genetic tests related to Frasier Syndrome:

id Genetic test Affiliating Genes
1 Frasier Syndrome22 WT1

Anatomical Context for Frasier Syndrome

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MalaCards organs/tissues related to Frasier Syndrome:

33
Kidney, Breast, Bone, Heart, Testes, Tongue

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Affected by disease

Animal Models for Frasier Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Frasier Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6FGF9, MECOM, MNX1, NPHS1, NR5A1, PAX6
2MP:00053888.6FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
3MP:00053698.3FGF9, MECOM, MNX1, PAX6, PDGFA, SOX9
4MP:00053798.2AMH, CD2AP, FGF9, LHX9, MNX1, NR5A1
5MP:00053678.1ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PAX6
6MP:00053897.9AMH, FGF9, LHX9, MECOM, NR5A1, PAX6
7MP:00053847.8ACTN4, FGF9, LAMB2, LHX9, MECOM, MNX1
8MP:00053857.4ACTN4, CD2AP, FGF9, MECOM, MNX1, NPHS2
9MP:00107686.4ACTN4, CD2AP, FGF9, LAMB2, MECOM, MNX1
10MP:00053766.0ACTN4, AMH, CD2AP, FGF9, LAMB2, LHX9
11MP:00053786.0ACTN4, CD2AP, FGF9, LAMB2, LHX9, MECOM

Publications for Frasier Syndrome

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Articles related to Frasier Syndrome:

(show all 45)
idTitleAuthorsYear
1
Cytoplasmic isoforms of Kaposi sarcoma herpesvirus LANA recruit and antagonize the innate immune DNA sensor cGAS. (26811480)
2016
2
Low-dose photon irradiation alters cell differentiation via activation of hIK channels. (25277267)
2015
3
Survival analysis of oral squamous cell carcinoma in a subgroup of young patients. (25374224)
2014
4
Personality, behavior and environmental features associated with OXTR genetic variants in British mothers. (24621820)
2014
5
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
6
Association between Admission Hyperglycemia During Hospitalization for Acute Myocardial Infarction and Subsequent Diabetes: Insights from the Veterans Administration Cardiac Care Follow-up Clinical Study. (24089537)
2013
7
Matrix metalloproteinase-2 (-1306 c&gt;t) promoter polymorphism and risk of colorectal cancer in the Saudi population. (24289619)
2013
8
Attenuation of LDHA expression in cancer cells leads to redox-dependent alterations in cytoskeletal structure and cell migration. (23583676)
2013
9
SNX-BAR-mediated endosome tubulation is co-ordinated with endosome maturation. (21973056)
2012
10
Swine influenza and cytokines: Less of a storm, more of a breeze. (20434376)
2011
11
Oral lesions in four cases of subacute cutaneous lupus erythematosus. (21537822)
2011
12
Spinal muscular atrophy due to double gene conversion event. (21047176)
2011
13
ADAM28 manipulates proliferation, differentiation, and apoptosis of human dental pulp stem cells. (21329817)
2011
14
Cigarette smoking is an independent risk factor for cervical intraepithelial neoplasia in young women: a longitudinal study. (19819687)
2010
15
Docosahexaenoic acid induces proteasome-dependent degradation of estrogen receptor alpha and inhibits the downstream signaling target in MCF-7 breast cancer cells. (19369047)
2010
16
Clinical significance of HLA-E*0103 homozygosity on survival after allogeneic hematopoietic stem-cell transplantation. (19696636)
2009
17
Potential application of human amniotic mesenchymal cells for seeding cells in bone tissue engineering]. (19377629)
2009
18
High-density lipoprotein-associated alpha-tocopherol uptake by human retinal pigment epithelial cells (ARPE-19 Cells): the irrelevance of scavenger receptor class B, type I. (19483330)
2009
19
CD83 polymorphisms and cervical cancer risk. (19446866)
2009
20
Ciz1, a p21 cip1/Waf1-interacting zinc finger protein and DNA replication factor, is a novel molecular partner for human enhancer of rudimentary homolog. (18081865)
2008
21
Pathology of Crow-Fukase syndrome]. (18567355)
2008
22
Facilitating lymphogranuloma venereum surveillance with the use of real time polymerase chain reaction. (17623514)
2007
23
Epidermolysis bullosa acquisita. (16481730)
2006
24
Leptin correlates with distribution of fatty tissue and plasma levels of insulin, testosterone and tumor necrosis factor alpha in perimenopausal women with increased testosterone level and central location of body fat]. (17441374)
2006
25
Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated. (17021253)
2006
26
Absence of CHEK2 mutations in Spanish families with hereditary breast cancer. (16080966)
2005
27
The oncogenic fusion protein-tyrosine kinase ZNF198/fibroblast growth factor receptor-1 has signaling function comparable with interleukin-6 cytokine receptors. (12594223)
2003
28
Effectiveness of switching to quetiapine for neuroleptic-induced amenorrhea. (12928517)
2003
29
Epithelioid hemangioendothelioma of bone--a clinicopathologic and immunohistochemical study of 7 cases. (15025353)
2003
30
Morphological and immunophenotypic variations in malignant melanoma. (10792480)
2000
31
Insulin action in primary hyperaldosteronism before and after surgical or pharmacological treatment. (10768828)
2000
32
Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels. (10321243)
1999
33
CREM: a master-switch governing male germ cells differentiation and apoptosis. (9813195)
1998
34
Prevention of PONV with granisetron, droperidol and metoclopramide in female patients with history of motion sickness. (9260009)
1997
35
Recurrent coronary-subclavian steal syndrome treated by left subclavian artery stenting. (9413383)
1997
36
High cure rate with a moderately intensive treatment regimen in non-high-risk childhood acute lymphoblastic leukemia. Results of protocol ALL VI from the Dutch Childhood Leukemia Study Group. (8622039)
1996
37
Imaging of Ca2+/calmodulin-dependent protein kinase II activity in hippocampal neurones. (8981450)
1996
38
Potentiation of antiproliferative effects of monoclonal antibody Lym-1 and immunoconjugate Lym-1-gelonin on human Burkitt's lymphoma cells with gamma-interferon and tumor necrosis factor. (8680650)
1995
39
Expansion of a (CAG)n repeat region in a sporadic case of HD. (7484060)
1995
40
The Cushing syndrome: an update on diagnostic tests. (2178536)
1990
41
Neurilemmoma of the tongue. (3267591)
1988
42
Malignant arterial hypertension. Relationship between blood pressure control and renal function during long-term observation of patients with malignant nephrosclerosis. (3453383)
1987
43
Increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, resulting in (23R)-hydroxylation of bile acids. (3756224)
1986
44
Primary non-urachal adenocarcinoma of the bladder. (430618)
1979
45
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. (4871209)
1968

Variations for Frasier Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1WT1p.Phe392LeuVAR_015060

Clinvar genetic disease variations for Frasier Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_001198551.1(WT1): c.787+15T> Asingle nucleotide variantPathogenicrs587776575GRCh38Chr 11, 32391966: 32391966
2WT1NM_024426.4(WT1): c.1432+5G> Asingle nucleotide variantPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
3WT1NM_024426.4(WT1): c.1372C> T (p.Arg458Ter)single nucleotide variantPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
4WT1NM_024426.4(WT1): c.1432+4C> Tsingle nucleotide variantPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968
5WT1NM_024426.4(WT1): c.1378T> C (p.Phe460Leu)single nucleotide variantPathogenicrs28941779GRCh37Chr 11, 32413572: 32413572

Expression for genes affiliated with Frasier Syndrome

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Search GEO for disease gene expression data for Frasier Syndrome.

Pathways for genes affiliated with Frasier Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ACTN4, CD2AP, NPHS1
29.7CD2AP, NPHS1, NPHS2
39.0MNX1, PAX6, PDGFA, SOX9

GO Terms for genes affiliated with Frasier Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.8ACTN4, CD2AP, NPHS2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:200002010.7SOX9, WT1
2metanephric glomerular visceral epithelial cell developmentGO:007224910.7LAMB2, NPHS2
3sex determinationGO:000753010.6SRY, WT1
4positive regulation of mesenchymal cell proliferationGO:000205310.5FGF9, SOX9
5regulation of timing of cell differentiationGO:004850510.4FGF9, PAX6
6male sex determinationGO:003023810.3FGF9, SOX9, SRY
7eye developmentGO:000165410.1FGF9, PAX6
8cell differentiationGO:00301549.6MECOM, NR5A1, PAX6, SOX9, SRY
9extracellular matrix organizationGO:00301989.4LAMB2, PDGFA, SOX9
10positive regulation of transcription, DNA-templatedGO:00458939.3MECOM, NR5A1, PAX6, SOX9, SRY, WT1
11positive regulation of gene expressionGO:00106289.2AMH, FGF9, PAX6, SOX9
12regulation of transcription, DNA-templatedGO:00063558.0LHX9, MECOM, MNX1, PAX6, WT1, ZNF274

Sources for Frasier Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet