DiseaseID 25782

肾母细胞瘤、无虹膜、泌尿生殖系统异常和智力障碍综合征

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

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Disease: 1Symptom: 4Target: 7Links: 11

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Record Fields

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Disease Id: 25782
Core Entity Id: 118350
Source Entity Count: 1
Preferred Name: Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Name Cn: 肾母细胞瘤、无虹膜、泌尿生殖系统异常和智力障碍综合征
Name Pinyin: Shen Mu Xi Bao Liu 、 Wu Hong Mo 、 Mi Niao Sheng Zhi Xi Tong Yi Chang He Zhi Li Zhang Ai Zong He Zheng
Name En: Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Name Latin
Bilingual Status: complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
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Mesh Class Name
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Disease Definition: SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.|SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.|NCI2016_NICHD_1602D:A condition characterized by proteinuria associated with aniridia, genitourinary anomalies, mental retardation, and a predisposition for Wilms tumor; it is caused by a deletion of the region containing the WT1 and PAX6 genes on chromosome 11.|NCI2016_NCI-GLOSS_1602D:A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing.|NCI2016_02D:A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.|MSH2017_2016_08_12:A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Version: v1,v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Role

preferred

Source

SymMap_v2

Preferred

Yes

Cross References

Trusted external identifiers retained for this final record.

Umls

C0206115

Sym Map

SMDE00320

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Disease Definition

SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.|SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.|NCI2016_NICHD_1602D:A condition characterized by proteinuria associated with aniridia, genitourinary anomalies, mental retardation, and a predisposition for Wilms tumor; it is caused by a deletion of the region containing the WT1 and PAX6 genes on chromosome 11.|NCI2016_NCI-GLOSS_1602D:A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing.|NCI2016_02D:A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.|MSH2017_2016_08_12:A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.