Wagr Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Wagr Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Age of onset: Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer 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:45 Wagr syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. wagr is an acronym for wilms tumor, aniridia, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental retardation syndrome. a combination of two or more of these conditions is usually present in most individuals with wagr syndrome. the syndrome is due to a microdeletion in the 11p13 region 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. last updated: 3/11/2009
MalaCards based summary: Wagr Syndrome, also known as chromosome 11p deletion syndrome, is related to chromosome 11p deletion 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 are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and FSH signaling pathway. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are normal and reproductive system.
Disease Ontology:10 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:23 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:68 WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms... more...
Symptoms:51 (show all 18)
HPO human phenotypes related to Wagr Syndrome:(show all 18)
Drugs for Wagr Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 28)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Wagr Syndrome
MalaCards organs/tissues related to Wagr Syndrome:33
Eye, Testes, Kidney, Ovary, Myeloid, Skin, Bone
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 42)
Search GEO for disease gene expression data for Wagr Syndrome.
Pathways related to Wagr Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet