Extractions: WAGR Complex WAGR-oireyhtymä on harvinainen sairaus, jonka nimi tulee englanninkielisistä sanoista W ilms tumor ( Wilmsin kasvain A niridia ( silmän värikalvon puuttuminen ), G enitourinary abnormalities ( epämuodostuneet suku- ja virtsaelimet ) ja Mental R etardation ( kehitysvammaisuus ). Nimi antaa hyvän kuvan sairauden ilmenemistavasta. Oireet voivat tosin jossain määrin vaihdella ja niitä voi olla enemmänkin. WAGR-oireyhtymä johtuu useimmiten sattumanvaraisesta sikiökehityksen aikaisesta mutaatiosta. Joissakin hyvin harvinaisissa tapauksissa on tavattu autosomaalisesti vallitsevaa periytyvyyttä Tämä v. 1964 ensimmäisen kerran kuvattu oireyhtymä on useamman geenin vaurion aiheuttama. Lisätietoja: WAGR Syndrome, OMIM
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: March 21, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Drash syndrome, DDS, Wilms tumor, intersex disorder, congenital nephropathy, end-stage renal disorder, ESRD, diffuse mesangial sclerosis AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Agnieszka Swiatecka-Urban, MD , Research Associate, Physiology, Dartmouth Medical School Coauthor(s): Prasad Devarajan, MD , Director of Nephrology and Hypertension, Louise M. Williams Professor of Pediatrics and Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center Agnieszka Swiatecka-Urban, MD, is a member of the following medical societies: American Society of Nephrology American Society of Transplantation , and International Pediatric Nephrology Association Editor(s): Ian Krantz, MD
WAGR Chromosome 11p deletion syndrome AGR syndrome Wilms Tumour aniridia syndromeWAGR is a Contiguous Gene syndrome usually the result of a deletion in http://www.aniridia.org/conditions/wagr.html
Extractions: WAGR is a Contiguous Gene Syndrome usually the result of a deletion in chromosome 11p, this means that a number of genes along the short arm of the 11th chromosome have been deleted. Most cases as are sporadic which means that there is no family history of this condition. Two of the symptoms are needed to qualify as WAGR. Most of these problems occur during childhood, however not all children will get all the symptoms though most have aniridia, there has only been one reported case of WAGR without aniridia. Because of this children born with sporadic Aniridia should be regularly checked for signs of the other conditions particularly having the kidneys checked via ultra sound for wilms' tumour. However, Most children with sporadic aniridia do not develop into WAGR.
Extractions: Syndrome chromosome 11p deletion syndrome Synonyms 11p- syndrome 11p deletion syndrome chromosome 11p monosomy del(11p) syndrome deletion 11p syndrome monosomy 11p partial monosomy 11p aniridia type II aniridia-ambiguous genitalia-mental retardation (AGR) syndrome, triad aniridia-genitourinary-abnormalities-mental retardation triad aniridia-Wilms tumor association, syndrome (aniridia-WT association, AWTA) aniridia-Wilms tumor-gonadoblastoma syndrome del11/aniridia complex oculocerebrorenal (OCR) syndrome Brusa-Toricelli syndrome Miller syndrome Wilms tumor-aniridia syndrome Wilms tumor-aniridia-genitourinary abnormalities-mental retardation triad Wilms tumor-aniridia-gonadoblastoma-mental retardation (WAGR) syndrome, association Summary Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA; Major Features Head and neck: Cranial asymmetry, microcephaly, brachycephaly, prominent forehead, long narrow face, large fontanelles, premature synostosis of metopic sutures, and biparietal foramina.
Syndrome DB - Table Of Contents aniridiagenitourinary abnormalities-mental retardation triad Wilms tumor-aniridia-gonadoblastoma-mentalretardation (wagr) syndrome, association Wilson-Turner http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_w.html
WAGR wagr is a Contiguous Gene syndrome usually the result of a deletion in chromosome11p, this means that a number of genes along the short arm of the 11th http://www.aniridia-network.net/conditions/conditions/WAGR.htm
Extractions: wilms tumor aniridia syndrome WAGR is a Contiguous Gene Syndrome usually the result of a deletion in chromosome 11p, this means that a number of genes along the short arm of the 11th chromesome have been deleted. Most cases as are sporadic which means that there is no family history of this condition. Two of the symptoms are needed to qualify as WAGR. Most of these problems occur during childhood, however not all children will get all the symptoms though most have aniridia, there has only been one reported case of WAGR without aniridia. Because of this children born with sporadic Aniridia should be regularly checked for signs of the other conditions particularly having the kidneys checked via ultra sound for wilms' tumour. However, Most children with sporadic aniridia do not develop into WAGR. Links WAGR.org
Extractions: Avertissement : Ces documents sont souvent destinés à des professionnels de santé. Si ce n'est pas votre cas, ne tirez aucune conclusion définitive de la lecture de ces textes avant d'en avoir discuté avec votre médecin. Mode de sélection des documents, sources, informations complémentaires Lettre W Waardenburg, syndrome [CISMeF]
Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Inheritance generally sporadic, a few inherited cases sometimes with milder phenotype were reported; occurrence: rare Clinics Phenotype and clinics high Wilms' tumor (WT) risk (can also manifest bilaterally) aniridia (AN) genitourinary anomalies (GU) (hypospadias and kryptorchism in males) mental retardation (growth retardation) various combinations of these features can be present, partly depending on deletion extent Neoplastic risk high Cytogenetics Inborn conditions del(11)(p13), contiguous gene syndrome with WT/GU and AN loci separated by about 700 kb; deletions may be cytogenetically invisible Cytogenetics of cancer deletions of the second chromosome 11 copy are rare; Wilms' tumors of WAGR patients frequently show subtle mutations of the remaining WT1 allele Genes involved and Proteins Note contiguous gene syndrome gene syndrome Wilms' tumor: WT1 Wilms' tumor suppressor gene genitourinary anomalies: WT1 haplo-insufficiency mental retardation: unknown aniridia: PAX6 Gene Name WT1 (Wilms' tumor suppressor gene) Location DNA/RNA Description 10 exons Protein Description 429 to 449 amino acids, according to alternative splicings; zinc finger transcription factor
Childhood Cancer Genetics basis were retinoblastoma (37% of retinoblastoma cases), Wilms' tumour (7% ofcases), leukaemia (3% of cases) associated with Down's syndrome, and brain http://www.cancer-genetics.org/gchild.htm
Extractions: www.cancer genetics.org Childhood Cancers Menu Pre-disposing Syndromes (selected) Ataxia-Telangiectasia Beckwith-Wiedemann syndrome Denys-Drash syndrome Down Syndrome Fanconi Anaemia Gorlin's Syndrome Li-Fraumeni Syndrome Neurofibromatosis Type 1 Neurofibromatosis Type 2 Perlman Syndrome Rothmund-Thomson Syndrome WAGR syndrome General Information: Are Childhood Cancers Hereditary ? Only about 5% of childhood cancers have a clear hereditary basis. From a UK study of 16,564 children with cancer it was estimated that 4% of childhood cancers had a known genetic-hereditary basis (Narod, 1991). The most frequently recorded diagnoses with a hereditary basis were: retinoblastoma (37% of retinoblastoma cases)
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Extractions: Childhood Wilms Tumor Wilms tumor, also called nephroblastoma, is a cancer that originates in the kidney. The disease gets its name from a German doctor, Max Wilms, who wrote one of the first medical articles about it in 1899. Ninety percent of all kidney cancers in children are Wilms tumor. The remaining ten percent are rare forms of childhood kidney cancers: clear cell sarcoma of the kidney, malignant rhabdoid tumor of the kidney, and occasionally renal cell carcinoma. The kidneys The kidneys, located near the middle of the back, are responsible for filtering the blood and removing harmful waste products. These two bean-shaped organs are each about the size of a fist. The kidney operates as a recycling depot complete with high-tech sanitation engineers. Its main job is to filter harmful waste products from the blood and to regulate the return of reusable chemicalssodium, phosphorus, and potassiumback to the body. Inside each kidney are millions of microscopic structures that filter out large particles, such as white and red blood cells, as well as most proteins, allowing them to return to the bloodstream. What remains in the kidney after this process is called urine. The urine flows from the kidney through a long tube (ureter) into the bladder, where it is stored until it is eliminated from the body by urination. Who gets Wilms tumor?
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