Wagr Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Wagr Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Neuronal diseases, Mental diseases
Rare eye diseases
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Wagr syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. wagr is an acronym for wilms tumor, aniridia, genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and range of developmental delays. a combination of two or more of these conditions is usually present in most individuals with wagr syndrome. the syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. in most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). only rarely is the mutation inherited. treatment of wagr syndrome is aimed at addressing the specific symptoms that are present in each individual. last updated: 7/11/2016
MalaCards based summary: Wagr Syndrome, also known as wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, is related to oculocerebrorenal syndrome and miller syndrome, and has symptoms including aplasia/hypoplasia of the iris, cognitive impairment and cryptorchidism. An important gene associated with Wagr Syndrome is WT1 (Wilms Tumor 1), and among its related pathways is FSH signaling pathway. Affiliated tissues include eye, kidney and testes, and related mouse phenotypes are respiratory system and normal.
Disease Ontology:11 A chromosomal deletion syndrome that is a nephroblastoma that results in a rare genetic syndrome in which affected children are predisposed to develop wilms tumor, aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. the condition results from a deletion on chromosome 11 resulting in the loss of several genes. as such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
Genetics Home Reference:24 WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).
Wikipedia:69 WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms... more...
Symptoms:52 (show all 18)
HPO human phenotypes related to Wagr Syndrome:(show all 18)
UMLS symptoms related to Wagr Syndrome:genitourinary signs and symptoms
Drugs for Wagr Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Wagr Syndrome
Genetic tests related to Wagr Syndrome:
MalaCards organs/tissues related to Wagr Syndrome:34
Eye, Kidney, Testes, Ovary, Myeloid, Fetal brain, Brain
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Wagr Syndrome:
Articles related to Wagr Syndrome:(show all 43)
Copy number variations for Wagr Syndrome from CNVD:6
Search GEO for disease gene expression data for Wagr Syndrome.
Biological processes related to Wagr Syndrome according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Wagr Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet