MUMS List Of Disorders - U - Z WSyndrome (1); wagr syndrome (Wilms Tumor-Aniridia-Gonadoblastoma M.lR.) (8) *;Waardenburg Syndrome (6); Waardenburg Syndrome Hirschsprung Disease (1) http://www.netnet.net/mums/mum_u-z.htm
Extractions: indicates there is a support group which covers that diagnosis. UPJ Obstruction (4) Uhl Anomaly (Ventricular myocardium, aplasia of right) (1) Ulcerated Colitis (4)* Ullich Disease (1) Ulna Bone, absence, bilateral (arm bone) (3) * Ulna Bone, deficiency (arm bone) (4) * Undescended Testes (72) Undiagnosed (498) Unusual Facies Syndrome (5) Unverricht-Lundborg (Baltic Myoclonus) (1) Ureathra, Diverticulum (1) Ureter Reconstruction (5) Ureterostomy (5) Urethra Fistula (2) Urethra Valve Syndrome (6) Urethra, Diverticulum (1) Urogenital Sinus (2) Urorectal Septum Malformation Sequence (2) Urticaria Pigmentosa (9) Urticaria, Cold (1) Usher Syndrome Type II (1) * Uveitis (pars plantis -dots in vision) (3) * Uvulopalatopharyngoplasty (palate reconstruction) (2) VATER Syndrome or Vacterl Association (80) ** Vaccine Reaction to HIB Vaccine (6) * Vaccine Reaction to Measles Vaccine (9) * Vaccine Reaction to Pertussis (DPT) Vaccine (306) * Vaccine Reaction to Polio Vaccine (5) * Vaccine, Sudden Deafness after Flu vaccine (1)
Health Library - Oncology Wilms Tumor Wilms tumor have one of three genetic syndromes, including the following.wagr syndrome - the acronym WAGR stands for the four diseases present in WAGR http://12.42.224.152/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29wag
Extractions: Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General Syndromes and Sequences Head #WAGR syndrome: Wilms tumor, aniridia, genitourinary-tract malformation, and mental retardation. #Waaler-Aarskog syndrome: Questionable autosomal dominant transmission with variable penetration. It includes hydrocephalus, imperforated anus, congenital heart disease, tracheo-esophageal fistula, vertebral and limb abnormalities. #Walker-Warburg Syndrome: Walker-Warburg syndrome is a form of cerebro-ocular dysplasia (muscle-eye-brain syndrome) characterized by hydrocephalus, agyria (a migration disorder), retinal dysplasia or detatchment, and encephalocele (HARD+E). There are also defects of the anterior chamber of the eyes. CNS m alformations: The brain abnormalities include type II lissencephaly, hydrocephalus, malformed cerebellar vermis, marked subpial gliosis, and abnormal cortical vascular architecture. Affected infants are very hypotonic from birth with microcephaly, severe mental retardation, and a variety of ocular abnormalities are the most obvious clinical abnormalities. Usually lethal within the first 4 months of age. #Wildervanck syndrome (oculo-acoustic-cervical syndrome): Congenital perceptive deafness (usually severe and sensataional in sensorineural in type), Kli
Extractions: printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. WAGR syndrome see Aniridia
Extractions: The names were derived from the specific illness/disease source directories. Therefore, there are some variations in the names. When ordering a list of URLs for your illness/disease, where possible, include the general usage, technical, acronym, and/or abbreviation names. Waardenburg Syndrome WAGR Syndrome Waldenstrom's Macroglobulinemia Waldmann Disease Walker Warburg Syndrome Walking aid Walking Pneumonia Wallenberg's Syndrome Wandering Spleen Wart Wart, Plantar Wart, Venereal Warts Warts (Common Warts) Warts, Genital Warts, Genital (Genital Warts (Women)) Wasp (Insect Sting Allergies) Wasserman Test Wasting Syndrome Water on the knee Water Retention Water-Electrolyte Imbalance Waterhouse-Friderichsen Syndrome Watering Eyes Weakness Weakness and Fatigue Weal Weaming Weaver Syndrome Webbing of the fingers or toes Weber-Christian Disease Weber's test Wegener's Granulomatosis Weight Weight (Excess) Weight Control Weight Issues Weight loss Weight Loss and Dieting Weight Loss And Maintenance Weight Loss with Thyroid Disease Weight Loss/Dieting Weight Management Weight problem Weil Syndrome Weill Marchesani Syndrome Weil's Disease Weismann Netter Stuhl Syndrome Weismann Netter Stuhl Syndrome Wells Syndrome Wen Werdnig Hoffman Disease Werner Syndrome Wernicke's Encephalopathy (Cerebral Beriberi) West African Trypanosomiasis West Syndrome Wet dream Wet Eyes Wetting the bed Wheals Wheelchair Wheezing Whiplash Whiplash Injury Whipple's Disease Whipworm White Blood Cell White Blood Cells, Neutrophils, and G-CSF
Extractions: Addison's disease Alagille syndrome Albright syndrome Allen test Alveolar proteinosis Alveolar-capillary membrane,in pulmonary edema Alzheimer disease Amplatz catheters Angelman syndrome Ankylosing spondylitis Apert syndrome Aschoff nodule Ashman phenomenon Austin Flint murmur Azygos vein Bachmann's bundle Bangungut Barth syndrome Bartter syndrome Bat wing edema Batten disease Bayes theorem Bayesian theory Beall mitral valve prosthesis Becker Becker muscular dystrophy Bed rest Behcet's disease Beriberi Bernheim effect Bernoulli equation Bernstein test Bezold-Jarisch reflex Bifid T wave Blacks Borg scale Bowditch effect Branham's sign Broadbent's sign Brockenbrough maneuver Bronchiolitis obliterans Bruce protocol BSÙ ÙÌÍP Bulboventricular loop Bundle of His Bundles of Kent Butterfly wing edema Cafe coronary Carey-Coombs Carpenter syndrome, genetic facter Carpentier-Edwards valve Carvallo's sign, in tricuspid regurgitation Casoni skin test Cat-eye syndrome Chagas' disease Charcot-Marie-Tooth syndrome Cheyne-Stokes respiration Churg-Strauss syndrome Creuzfeldt-Jacob disease(CJD) Cogan's syndrome Conradi-Hunermann syndrome Corrigan (water-hammer) pulse Cromakalim Crouzon's syndrome Cushing's disease Cushing's syndrome Da Costa syndrome Dallas criteria Damus-Kaye-Stansel procedure De Musset's sign DeBakey DiGeorge syndrome Down syndrome Dressler syndrome Duchenne muscular dystrophy Duroziez's sign Earlobe crease
Current Opinion In Oncology - UserLogin wagr syndrome consists of W ilms tumor, a niridia, g enital anomalies, Children with wagr syndrome carry constitutional deletions in a number of genes, http://www.co-oncology.com/pt/re/cooncology/fulltext.00001622-200105000-00014.ht
Extractions: GEN The gene length: 50 kbp; exons: 10 (Haber-1991). FUN The WT1 protein isoforms have several characteristics of zinc-finger transcription factors and are thought to regulate gene expression during mesenchymal to epithelial cell differentiation (Pritchard-Jones-1990) especially in the development of the urogenital system." PAT Wilms tumor (WT) is one of the most common solid tumors of childhood, occurring in 1 in 10,000 children and accounting for 8% of childhood cancers. It is believed to result from malignant transformation of abnormally persistent renal stem cells which retain embryonic differentiation potential (Breslow-1982)." MUT By PCR-SSCP analysis of 98 sporadic Wilms tumors, Varanasi-1994 found that mutations in the WT1 gene are rare, occurring in only 6 tumors analyzed. In 1 sample, 2 independent intragenic mutations inactivated both WT1 alleles, providing a singular example of 2 different somatic alterations restricted to the WT1 gene. The data, together with the previously ascertained occurrence of large deletions/insertions in WT1, defined the frequency at which the WT1 gene is altered in sporadic tumors." HET [1] This locus was previously assumed to be related with the combined syndrome WAGR, which included, in addition to Wilms tumor, aniridia, gonadoblastoma, and mental retardation (AGR triade; Riccardi-1978). Many authors found WAGR to be accompanied by deletions in the chr 11 short arm, so WAGR locus was considered as being located in segment 11p13. However, aniridia and genital abnormalities were later demonstrated to occur independently of both Wilms tumor and each other. Therefore, the WAGR locus was excluded from gene catalogues and replaced by three independent genes - GEM:
American College Of Surgeons JACS Reprint In contrast to wagr, children with the DenysDrash syndrome with Wilms tumorhave only point mutations of the WT1 gene.13 These patients account for http://www.facs.org/jacs/articles/grosfeld3.html
Extractions: WILMS' TUMOR Wilms' tumor is the most common embryonic malignancy of renal origin. Approximately 500 new patients are seen annually in the United States.13,14 Although the overall management of children with Wilms' tumor is one of the great success stories in cancer therapy and currently more than 90% of children survive 4 years after their diagnosis, there is still room for improvement. Genetic considerations Children susceptible to Wilms' tumor are born with a constitutional DNA mutation in one allele of a gene. One copy of a presumed tumor suppressor gene mutation is inherited from one parent and results from a spontaneous mutation. Under these circumstances, a new genetic event such as deletion of inhibition of the paired allele of the gene would be needed for tumorigenesis to occur. This genetic presentation increases the likelihood of bilateral tumors and earlier age at onset as compared with sporadic cases, in which tumorigenesis requires two independent mutations.2,5,6 Two-event activation of a tumor suppressor gene occurs at two different genetic sites. The first allele is inactivated by mutation of the gene itself; the second allele is inactivated by loss of heterozygosity (a loss of chromosomal material). Wilms' tumor occurring in children with aniridia, genitourinary abnormalities, and mental retardation is known as the WAGR syndrome.2,13 Wilms' tumor will develop in 30% of these children. The karyotypic analysis of these patients demonstrates a deletion of the short arm (the p arm) of one copy of chromosome 11 at the 11p13 locus. The syndrome actually encompasses a number of contiguous genes, including the aniridia gene
Aniridie SNOF syndrome wagr des anglo-saxons (Wilms tumor, Le syndrome wagr est en rapport avec le gène WT1 qui est le gène http://www.snof.org/maladies/aniridie.html
Extractions: Aniridie aniridie comme . Cette anomalie est rapidement visible chez le petit enfant chez l'ophtalmologiste. Cette pathologie rare glaucome L' absence d'iris mydriase ). Il existe toujours une mince collerette d'iris zonule Des Il s'y associe souvent une dystrophie limbique glaucome Une glaucome L'atteinte maculaire est quasi constante, avec un absence de macula ou une hypoplasie maculaire nystagmus et une basse vision (amblyopie). Une cataracte ou des peuvent s'ajouter au tableau clinique. type de transmission de cette anomalie, dans la famille de l'enfant. aniridie autosomique dominante par haplo-insuffisance embryologie de l'oeil le premier cas avec une transmission autosomique dominante dans le cadre d'une (mutation de
