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MeshID = D017624 |
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'''WAGR syndrome''' is a rare genetic [[syndrome]] in which affected children are predisposed to develop [[Wilms' tumor|'''W'''ilms tumor]] (a tumor of the [[kidney]]s), [[aniridia|'''A'''niridia]] (absence of the colored part of the eye, the [[Iris (anatomy)|iris]]), '''G'''enitourinary anomalies, and [[mental retardation|mental '''R'''etardation]].<ref name=Fischbach_2005>{{cite journal | author=Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M | title=WAGR syndrome: a clinical review of 54 cases | journal=Pediatrics | year=2005 | pages=984-8 | volume=116 | issue=4 | id=PMID 16199712}}</ref> The '''G''' is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads ([[testis|testes]] or [[ovary|ovaries]]).<ref name=Clericuzio_2004>{{cite book | author = Clericuzio CL | year = 2004 | title = Management of Genetic Syndromes | chapter = WAGR syndrome | editor = Cassidy SB, Allanson JE | edition = 2nd edition | publisher = John Wiley & Sons | location = New York, NY | id = ISBN 0-471-30870-6 }}</ref>
'''WAGR syndrome''' is a rare genetic [[syndrome]] in which affected children are predisposed to develop [[Wilms' tumor|'''W'''ilms tumor]] (a tumor of the [[kidney]]s), [[aniridia|'''A'''niridia]] (absence of the colored part of the eye, the [[Iris (anatomy)|iris]]), '''G'''enitourinary anomalies, and [[mental retardation|mental '''R'''etardation]].<ref name=Fischbach_2005>{{cite journal | author=Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M | title=WAGR syndrome: a clinical review of 54 cases | journal=Pediatrics | year=2005 | pages=984–8 | volume=116 | issue=4 | pmid=16199712 | doi=10.1542/peds.2004-0467}}</ref> The '''G''' is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads ([[testis|testes]] or [[ovary|ovaries]]).<ref name=Clericuzio_2004>{{cite book | author = Clericuzio CL | year = 2004 | title = Management of Genetic Syndromes | chapter = WAGR syndrome | editor = Cassidy SB, Allanson JE | edition = 2nd edition | publisher = John Wiley & Sons | location = New York, NY | id = ISBN 0-471-30870-6 }}</ref>


==Synonyms==
==Synonyms==
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==History==
==History==
WAGR syndrome was first described by Miller ''et al''.<ref name=Miller_1964>{{cite journal |author=Miller RW, Fraumeni JF, Manning MD |title=Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations |journal=N Engl J Med |volume=270 |issue= |pages=922-7 |year=1964 |id=PMID 14114111}}</ref>
WAGR syndrome was first described by Miller ''et al''.<ref name=Miller_1964>{{cite journal |author=Miller RW, Fraumeni JF, Manning MD |title=Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations |journal=N Engl J Med |volume=270 |issue= |pages=922–7 |year=1964 |pmid=14114111}}</ref>


Deletion Chromosome 11p13
Deletion Chromosome 11p13


==Pathophysiology==
==Pathophysiology==
WAGR syndrome is caused by a mutation on [[chromosome 11]] in the 11p13 region.<ref name=OMIM>{{cite web | title=WAGR syndrome | work=OMIM: Online Mendelian Inheritance in Man | url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194072 | accessdate=2007-02-02}}</ref> Specifically, several genes in this area are deleted, including the [[PAX6]] ocular development gene and the Wilms' tumor gene (WT1).<ref name=Glaser_1994>{{cite journal |author=Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R |title=PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects |journal=Nat Genet |volume=7 |issue=4 |pages=463-71 |year=1994 |id=PMID 7951315}}</ref> Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.<ref name=Glaser_1994 /><ref name=Yasuda_2002>{{cite journal |author=Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M |title=PAX6 mutation as a genetic factor common to aniridia and glucose intolerance |journal=Diabetes |volume=51 |issue=1 |pages=224-30 |year=2002 |id=PMID 11756345}}</ref><ref name=Mitchell_2003>{{cite journal |author=Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S |title=Polymicrogyria and absence of pineal gland due to PAX6 mutation |journal=Ann Neurol |volume=53 |issue=5 |pages=658-63 |year=2003 |id=PMID 12731001}}</ref><ref name=Talamillo_2003>{{cite journal |author=Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R |title=Pax6 regulates regional development and neuronal migration in the cerebral cortex |journal=Dev Biol |volume=255 |issue=1 |pages=151-63 |year=2003 |id=PMID 12618140}}</ref>
WAGR syndrome is caused by a mutation on [[chromosome 11]] in the 11p13 region.<ref name=OMIM>{{cite web | title=WAGR syndrome | work=OMIM: Online Mendelian Inheritance in Man | url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194072 | accessdate=2007-02-02}}</ref> Specifically, several genes in this area are deleted, including the [[PAX6]] ocular development gene and the Wilms' tumor gene (WT1).<ref name=Glaser_1994>{{cite journal |author=Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R |title=PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects |journal=Nat Genet |volume=7 |issue=4 |pages=463–71 |year=1994 |pmid=7951315 |doi=10.1038/ng0894-463}}</ref> Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.<ref name=Glaser_1994 /><ref name=Yasuda_2002>{{cite journal |author=Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M |title=PAX6 mutation as a genetic factor common to aniridia and glucose intolerance |journal=Diabetes |volume=51 |issue=1 |pages=224–30 |year=2002 |pmid=11756345 |doi=10.2337/diabetes.51.1.224}}</ref><ref name=Mitchell_2003>{{cite journal |author=Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S |title=Polymicrogyria and absence of pineal gland due to PAX6 mutation |journal=Ann Neurol |volume=53 |issue=5 |pages=658–63 |year=2003 |pmid=12731001 |doi=10.1002/ana.10576}}</ref><ref name=Talamillo_2003>{{cite journal |author=Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R |title=Pax6 regulates regional development and neuronal migration in the cerebral cortex |journal=Dev Biol |volume=255 |issue=1 |pages=151–63 |year=2003 |pmid=12618140 |doi=10.1016/S0012-1606(02)00046-5}}</ref>


==Clinical features and diagnosis==
==Clinical features and diagnosis==
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The clinical suspicion for WAGR may be increased with the presence of other genital anomalies, though genitourinary anomalies are not always present, particularly in girls.
The clinical suspicion for WAGR may be increased with the presence of other genital anomalies, though genitourinary anomalies are not always present, particularly in girls.


In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis.<ref name=Turleau_1984>{{cite journal |author=Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C |title=Del11p13/nephroblastoma without aniridia |journal=Hum Genet |volume=67 |issue=4 |pages=455-6 |year=1984 |id=PMID 6092262}}</ref><ref name=Fischbach_2005 /> Other common eye defects include [[cataract]]s and [[ptosis (eyelid)|ptosis]]. About 50% of patients develop Wilms' tumor.
In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis.<ref name=Turleau_1984>{{cite journal |author=Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C |title=Del11p13/nephroblastoma without aniridia |journal=Hum Genet |volume=67 |issue=4 |pages=455–6 |year=1984 |pmid=6092262 |doi=10.1007/BF00291410}}</ref><ref name=Fischbach_2005 /> Other common eye defects include [[cataract]]s and [[ptosis (eyelid)|ptosis]]. About 50% of patients develop Wilms' tumor.


==See also==
==See also==

Revision as of 12:34, 28 May 2008

WAGR syndrome
SpecialtyOncology, obstetrics and gynaecology, urology, endocrinology, ophthalmology, neurology, medical genetics Edit this on Wikidata

WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads (testes or ovaries).[2]

Synonyms

WAGR complex, Wilms tumor-aniridia syndrome, aniridia-Wilms tumor syndrome.

History

WAGR syndrome was first described by Miller et al.[3]

Deletion Chromosome 11p13

Pathophysiology

WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region.[4] Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumor gene (WT1).[5] Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.[5][6][7][8]

Clinical features and diagnosis

Newborn children with WAGR syndrome are soon noted to have aniridia. The clinical suspicion for WAGR may be increased with the presence of other genital anomalies, though genitourinary anomalies are not always present, particularly in girls.

In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis.[9][1] Other common eye defects include cataracts and ptosis. About 50% of patients develop Wilms' tumor.

See also

References

  1. ^ a b Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics. 116 (4): 984–8. doi:10.1542/peds.2004-0467. PMID 16199712.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ Clericuzio CL (2004). "WAGR syndrome". In Cassidy SB, Allanson JE (ed.). Management of Genetic Syndromes (2nd edition ed.). New York, NY: John Wiley & Sons. ISBN 0-471-30870-6. {{cite book}}: |edition= has extra text (help)
  3. ^ Miller RW, Fraumeni JF, Manning MD (1964). "Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations". N Engl J Med. 270: 922–7. PMID 14114111.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ "WAGR syndrome". OMIM: Online Mendelian Inheritance in Man. Retrieved 2007-02-02.
  5. ^ a b Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R (1994). "PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects". Nat Genet. 7 (4): 463–71. doi:10.1038/ng0894-463. PMID 7951315.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. ^ Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M (2002). "PAX6 mutation as a genetic factor common to aniridia and glucose intolerance". Diabetes. 51 (1): 224–30. doi:10.2337/diabetes.51.1.224. PMID 11756345.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S (2003). "Polymicrogyria and absence of pineal gland due to PAX6 mutation". Ann Neurol. 53 (5): 658–63. doi:10.1002/ana.10576. PMID 12731001.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  8. ^ Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R (2003). "Pax6 regulates regional development and neuronal migration in the cerebral cortex". Dev Biol. 255 (1): 151–63. doi:10.1016/S0012-1606(02)00046-5. PMID 12618140.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  9. ^ Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C (1984). "Del11p13/nephroblastoma without aniridia". Hum Genet. 67 (4): 455–6. doi:10.1007/BF00291410. PMID 6092262.{{cite journal}}: CS1 maint: multiple names: authors list (link)


External links

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