Wagr Syndrome malady
Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases categories
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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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.┬áa combination of two or more of these conditions is usually present in most individuals with wagr syndrome.┬áthe syndrome is due to a microdeletion in the 11p13 region of chromosome 11.┬áin most cases,┬áthis genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic).┬áonly rarely is┬áthe mutation inherited. last updated: 3/11/2009
MalaCards based summary: Wagr Syndrome, also known as 11p partial monosomy syndrome, is related to succinic semialdehyde dehydrogenase deficiency and mental retardation, and has symptoms including aniridia/iris hypoplasia, intellectual deficit/mental/psychomotor retardation/learning disability and microcephaly. An important gene associated with Wagr Syndrome is DEL11P13 (Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome), and among its related pathways are FSH signaling pathway and Cardiac Progenitor Differentiation. The compounds hpaii and nap-2 have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are muscle and digestive/alimentary.
Disease Ontology:8 A chromosomal disease 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:21 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, more commonly known by the acronym WAGR, is a syndrome that affects the development of many body systems.
Wikipedia:65 WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms... more...
Descriptions from OMIM:46 194072,612469
Wagr Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
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
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy
Clinical features from OMIM:194072,612469
Symptoms:48 (show all 18)
HPO human phenotypes related to Wagr Syndrome:(show all 18)
MalaCards organs/tissues related to Wagr Syndrome:32
Eye, Testes, Kidney, Ovary, Brain, Fetal brain
The database of embryonic development, stem cell research and regenerative medicine
Cells/anatomical compartments in embryo or adult related to Wagr Syndrome:
MGI Mouse Phenotypes related to Wagr Syndrome:36 (show all 11)
Articles related to Wagr Syndrome:(show all 38)
Search GEO for disease gene expression data for Wagr Syndrome.
Compounds related to Wagr Syndrome according to GeneCards/GeneDecks:(show all 17)
Biological processes related to Wagr Syndrome according to GeneCards/GeneDecks:
Molecular functions related to Wagr Syndrome according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet