The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Most present at puberty. [nephronpower.com]

PMID: 17101338 The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms’ tumor. [humpath.com]

Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. [ncbi.nlm.nih.gov]

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. [orpha.net]

• Swelling

  Therefore, tests for Wilms’ tumor aren’t typically done unless a child has symptoms, such as swelling in the abdomen. [healthline.com]

  This condition is characterized by an inability of the kidneys to filter waste products from the blood, which leads to protein in the urine, swelling (edema) of the abdomen, and ultimately, kidney failure. [ghr.nlm.nih.gov]

  Signs of Wilms tumor can include abdominal swelling, blood in the urine, decreased urination, low-grade fever, loss of appetite, paleness, weight loss and lethargy. [rarediseases.org]

  […] lots of fruits and vegetables Get regular exercise Avoid smoking or using tobacco products Avoid secondhand smoke People with a WT1-related syndrome should watch closely for general signs or symptoms that could signal that a Wilms tumor has developed: Swelling [stjude.org]

  The patient's evolution under immunosup-pressive treatment was favorable, resulting in complete remission (proteinuria Our second case, a 13 year old WTlpositive girl, was admitted to hospital with a four week history of mild eye swelling and facial puffi-ness [cyberleninka.org]

• Recurrent Infection

  Signs & Symptoms The initial symptoms of DDS may be similar to nephrotic syndrome and include edema, abdominal distention and recurrent infections, sometimes present at birth but more often developing between 1 and 2 years of age. [rarediseases.org]

  infection syndromeJOB 147060 STAT3 102582 14 Hyperbilirubinemia, familial transient neonatal 237900 UGT1A1 191740 7 Hypercalcemia, infantile 143880 Cyp24A1 126065 14 Hypercholesterolemia 143890 LDLR 606945 14 Hyperekplexia 2, autosomal recessiveHKPX2 [diagenos.com]

• Surgical Procedure

  Treatment for Fraser Syndrome Treatment of Fraser syndrome mainly involves surgical procedure to correct the physical deformities involved with this Fraser Syndrome. Apart from surgery, other treatments are generally supportive. [epainassist.com]

  Lipids) １語 D12 (Amino Acids, Peptides, and Proteins) ５２６語 D13 (Nucleic Acids, Nucleotides, and Nucleosides) １語 D23 (Biological Factors) ４３語 D27 (Chemical Actions and Uses) １３語 E1 (Diagnosis) ７語 E2 (Therapeutics) ４語 E3 (Anesthesia and Analgesia) １語 E4 (Surgical [sisoken.la.coocan.jp]

• Loss of Appetite

  These vary from child to child but may include: hair loss nausea and vomiting fatigue diarrhea anemia loss of appetite weight loss pain neutropenia mouth sores bruising sleep problems bladder issues skin and nail changes increased risk of infection Talk [healthline.com]

  Signs of Wilms tumor can include abdominal swelling, blood in the urine, decreased urination, low-grade fever, loss of appetite, paleness, weight loss and lethargy. [rarediseases.org]

  […] of appetite Shortness of breath Constipation Blood in the urine It is important to seek medical help if anything unusual appears. [stjude.org]

• Failure to Thrive

  […] to thrive, facial dysmorphism, ambiguous, genitalia, syndactyly, postaxial polydactyly, Hirschprung disease, cardiac and renal malformations Autosomal recessive Rutledge 73 Joint contractures, cerebellar hypoplasia, renal hypoplasia, ambiguous genitalia [glowm.com]

• Heart Disease

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  disease, anomalies of limbs, external genitalia Chromosomal Denys–Drash 68, 69 Wilms tumor, nephropathy, ambiguous genitalia with 46, XY karyotype Unknown Fraser 70, 71 Cryptophthalmia, defect of auricle, hair growth on lateral forehead to lateral eyebrow [glowm.com]

  After 12 days, he developed a compensated heart disease and his clinical condition improved, so he was discharged. [dovepress.com]

• Short Arm

  The WT1 gene, located on the short arm of chromosome 11 (11p13), encoding a protein necessary for the development of kidney and gonads. Within these tissues, the WT1 protein plays a role in cell growth, cell differentiation and apoptosis. [ivami.com]

  Discussion The WT1 gene is located on the short arm of chromosome 11, band p13 (3), which consist of 10 exons, and encodes a transcriptional factor that is a zinc-finger protein. [ar.iiarjournals.org]

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 4q21” refers to band 21 on the long arm of chromosome 4. [rarediseases.org]

  Table 1 Clinical features of Denys-Drash and Frasier syndromes Genetic aspects: the WT1 gene WT1 was originally isolated from the short arm of chromosome 11, as the result of a positional cloning effort aimed at identifying a gene for Wilms’ tumour. 14 [adc.bmj.com]

• Lethargy

  Signs of Wilms tumor can include abdominal swelling, blood in the urine, decreased urination, low-grade fever, loss of appetite, paleness, weight loss and lethargy. [rarediseases.org]

• Kidney Failure

  Characteristic features are mesangial sclerosis with early kidney failure, varying degrees of gonadal dysgenesis and high risk of Wilms' tumors. [ncbi.nlm.nih.gov]

  Frasier Syndrome Engelsk definition A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. [mesh.kib.ki.se]

  A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. [profiles.uchicago.edu]

• Hematuria

  It presents with NS in 90% of cases but may present with renal insufficiency, hypertension, and hematuria in a proportion of cases. [frontiersin.org]

  At an outside hospital, urine examination showed proteinuria (+++), urinary tract infection with severe leukocyturia (30–35 white blood cells per field) and hematuria (6–8 red blood cells per field). [dovepress.com]

  […] congenital hemihypertrophy and short stature 759.89 Sirenomelia 759.89 Smith-Lemli-Opitz syndrome (cerebrohepatorenal syndrome) 759.89 Stickler syndrome 759.89 Stiff-baby 759.89 Sympus 759.89 Syndrome - see also Disease Alagille 759.89 Alport's (hereditary hematuria-nephropathy-deafness [icd9data.com]

  Laboratory studies indicated nephrotic syndrome: hypoalbuminemia (2.3 g/dL), hyperlipidemia (total cholesterol, 342 mg/dL), and massive proteinuria (11 g/g creatinine) without hematuria. [bmcnephrol.biomedcentral.com]

  Serum cholesterol level was very high, there was no hematuria, and renal function was normal. [scielo.br]

• Absent Kidney

  The crucial role of WT1 function in urogenital development is emphasised by the WT1 knockout mouse, where homozygous inactivation of WT1 causes absent kidneys and malformation of the gonads. 19 To date, WT1 remains the principal gene to be associated [adc.bmj.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Thus, this combination might be the initial treatment of patients with FS. [ncbi.nlm.nih.gov]

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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. [rareguru.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

However, the efficacy of cyclosporine A depends on the degree of histopathological findings, and the relationship between long-term use and renal prognosis remains unknown. [ncbi.nlm.nih.gov]

Prognosis There is limited information on life expectancy. [orpha.net]

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. [rareguru.com]

It has a poor prognosis as this nephropathy is resistant to treatment with corticosteroids and rapidly progresses to end-stage renal failure. [kidneypathology.com]

[…] sclerosis nonspecific focal and segmental glomerulosclerosis (FSGS) tumoral predisposition gonadoblastoma in situ early gonadoblastoma (17101338, 20419325, 19653292) bilateraal gonadoblastoma (19653292) seminoma/dysgerminoma (17101338, 20408995, 19653292) Etiology [humpath.com]

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). [orpha.net]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

The etiology and pathogenesis of DMS is not understood, but the three mutations described in this glomerular disease involve the genes WT1, LAMB2 or PLCE1. Mutations in PLCE1 have been associated to isolated DMS. [kidneypathology.com]

Summary Epidemiology To date, less than 150 cases have been described. Clinical description Nephropathy is the hallmark of the disease. [orpha.net]

SYNDROME 2002-2005 Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

Epidemiology To date, less than 150 cases have been described. Clinical description Nephropathy is the hallmark of the disease. [rareguru.com]

Patient Epidemiology Analysis Fraser syndrome affects both men and women equally. This condition has a neonatal/antenatal onset, which means that an affected individual develops it before birth. [digitaljournal.com]

More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. [books.google.com]

Pathophysiology Testicular Feminizing Syndrome Androgen Insensitivity Androgen receptor mutations 7. Androgen receptor Gene/locus:AR(Xq11-q12). 8. [slideshare.net]

PMID 3130865 Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features. Mrowka C, Schedl A Journal of the American Society of Nephrology : JASN. 2000 ; 11 Suppl 16 : S106-S115. [atlasgeneticsoncology.org]

Pathophysiology of NS The primary defect in NS is loss of proteins in the kidney. [frontiersin.org]

Selected genetic conditions that in our practice are the most common scenarios for prophylactic bilateral gonadectomy in prevention of the development of malignant germ cell tumors include Turner (subset +Y), Swyer, and Frasier syndromes. [medical-dictionary.thefreedictionary.com]

Disruption of alternative splicing at the exon 9 splice donor site prevents synthesis of the usually more abundant WT1 +KTS isoform from the mutant allele. In contrast to Denys-Drash syndrome, no mutant protein is produced. [ncbi.nlm.nih.gov]

Early prophylactic resection of dysgenetic gonads, such as was undertaken in this patient, is indicated in children with Frasier syndrome to prevent the development of germ cell tumors. [journals.viamedica.pl]

Early prophylactic resection of dysgenetic gonads is indicated in children with Frasier syndrome to prevent the development of germ cell malignancy. [humpath.com]