Disease relevance of Urogenital Abnormalities

• This locus is also part of the WAGR complex (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) [1].
• Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS) [2].
• We report on two patients with nephropathic cystinosis who were treated with cysteamine and developed structural genitourinary abnormalities which may have contributed to an increase in the rate of decline of renal function [3].
• The cardinal features of this condition include craniosynostosis, severe mid-face hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long-bone fractures and femoral bowing, urogenital abnormalities and a normal karyotype [4].
• Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome) [5].

Psychiatry related information on Urogenital Abnormalities

• Mutations in ATRX give rise to characteristic developmental abnormalities including severe mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassaemia [6].

High impact information on Urogenital Abnormalities

• This study was designed to determine whether a cohort of males exposed in utero to diethylstilbestrol had a higher frequency of urogenital abnormalities than an unexposed cohort [7].
• The region p13 of the short arm of human chromosome 11 has been studied intensely during the search for genes involved in the etiology of the Wilms' tumor, aniridia, genitourinary abnormalities, mental retardation (WAGR) syndrome, and related conditions [8].
• These results extend our knowledge of the effects of early genistein exposure on male development and may have implications for human health in terms of potential relationships of endocrine disrupters and urogenital abnormalities thought to be increasing in incidence in boys and men [9].
• Vesicoureteral reflux or other genitourinary abnormalities were found in only 3 of 24 patients (12.5%) less than 6 months old compared with 6 of 12 boys (50%) older than 6 months (p = 0.036) [10].
• The human phosphoglycerate kinase (PGK1) gene is located within Xq11-Xq13, a region implicated in familial prostate carcinoma, androgen insensitivity, perineal hypospadias, and other genitourinary abnormalities [11].

Chemical compound and disease context of Urogenital Abnormalities

• Transcatheter occlusive therapy of genitourinary abnormalities using isobutyl 2-cyanoacrylate (Bucrylate) [12].
• BACKGROUND: Latex allergy is frequently found in children and patients with spina bifida and urogenital abnormalities and have been considered at risk for latex sensitization [13].

Biological context of Urogenital Abnormalities

• Most mutations occurred in children with unilateral WT without associated genitourinary abnormalities, creating difficulties in identifying individuals with germline mutations on phenotype alone [14].
• This is in the first report of the point mutation in the zinc finger domain of both WT1 alleles in a sporadic unilateral WT without genitourinary abnormalities, and the mutation suggests that some sporadic WTs carry the Denys-Drash WT1 mutations [15].
• In several cases, children had genitourinary abnormalities of the type associated with the WT1 gene on chromosome 11p13 [16].

Anatomical context of Urogenital Abnormalities

• Mutations in the gene encoding the hepatocyte nuclear factor (HNF)-1beta are associated with a subtype of maturity-onset diabetes of the young (MODY 5) characterized by urogenital abnormalities [17].

Gene context of Urogenital Abnormalities

• Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome [18].
• We suggest that haploinsufficiency in PAX6 and WT1 genes resulted in aniridia and associated genitourinary abnormalities [19].
• Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (AAS), an X-linked disorder characterized by short stature, brachydactyly, urogenital abnormalities, and a typical dysmorphic facial appearance [20].
• Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome [21].

References