Aniridia; AN1
Victor A. McKusick, Johns Hopkins University, December 23, 2002
Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula ... Affected persons may be visually handicapped because of nystagmus, cataract or glaucoma ... Undoubtedly more than one 'cause' of aniridia exists ... Gove et al. (1961) identified 77 cases of aniridia descended from an affected woman born in 1824 ...

Aniridia, Included; AN2
Victor A. McKusick, Johns Hopkins University, August 13, 2007
Although entitled aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia ... one or more of the associated ocular abnormalities--cataract, lens dislocation, foveal dysplasia, optic nerve hypoplasia, and nystagmus--contributes to severe reduction ... About half of cases develop glaucoma ... no signs of Wilms tumor ... deletion of 11p13 results in the WAGR syndrome ...

Wilms Tumor
Victor A. McKusick, Johns Hopkins University, April 30, 2007
Nephroblastoma ... Rather numerous instances of multiple sibs with Wilms tumor have been described ... The syndrome of aniridia, hemihypertrophy and other congenital anomalies with Wilms tumor, subsequently known as the WAGR syndrome, was first described by Miller et al. (1964) ... . Riccardi et al. (1978) observed a triad of aniridia, ambiguous genitalia and mental retardation (AGR triad) in 3 patients with an interstitial deletion of the short arm of chromosome 11 ... Marshall et al. (1982) studied 14 patients with aniridia .... 6 had interstitial deletion of 11p of various lengths. Band 11p13 was included in the deletion in all 6 cases ...

Wilms Tumor 2
Victor A. McKusick, Johns Hopkins University, March 18, 2004
Multiple Tumor Associated Chromosome Region 1 ... Mannens et al. (1988) demonstrated that loss of heterozygosity in Wilms tumors may not necessarily involve the proposed Wilms tumor locus at 11p13 (194070) and may be limited to 11p15.5.

Wilms Tumor 3
Victor A. McKusick, Johns Hopkins University, March 18, 2004
A form of autosomal dominant Wilms tumor that does not map to 11p

WAGR Syndrome
Victor A. McKusick, Johns Hopkins University, April 29, 2005
WILMS TUMOR--ANIRIDIA--GENITOURINARY ANOMALIES--MENTAL RETARDATION SYNDROME
Miller et al. (1964) first described the association of aniridia, hemihypertrophy, and other congenital anomalies with Wilms tumor. The syndrome subsequently became known as the WAGR syndrome. The G refers to 'ambiguous genitalia' (Riccardi et al., 1978), 'genitourinary abnormalities,' or 'gonadoblastoma' (Anderson et al., 1978). The R refers to mental retardation. The WAGR syndrome is one of the best-studied 'contiguous gene syndromes'; as defined by Schmickel (1986), aniridia (AN2; 106210), Wilms tumor (WT1; 194070), and probably mental retardation are determined by separate genes ...

Hemihypertrophy Support from an involved Person
Hi! My name is Katie. I decided to have a Web site devoted to a rare disease called Hemihypertrophy ... Yes, I have Hemi ... Hi! My name is Katie. I decided to have a Web site devoted to a rare disease called Hemihypertrophy ... rare condition in which one side of the body seems to grow faster than the other is called Hemihypertrophy ... certain serious conditions that may be associated with this type of growth pattern. These include cancer of the kidney, cancer of the liver, and a condition called Beckwith-Wiedemann Syndrome ...

Wilms Tumor
I.B.I.S. Birth Defects, August 13, 2004
[Ukrainian]
A fact sheet for specialists in Ukrainian
Clinical features ... Associated anomalies ... Diagnosis ... Etiology ... Differential diagnosis ... Treatment ... Genetic counseling ...

________________________________________________________________________________________________

Last Updated: 2007/11/01

________________________________________________________________________________________________