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11p partial monosomy syndrome(WAGR)

MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
Synonyms: 11p deletion syndrome; Chromosome 11p deletion syndrome; CHROMOSOME 11p13 DELETION SYNDROME; WAGR; WAGR Complex; WAGR syndrome; Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
SNOMED CT: Chromosome 11p13 deletion syndrome (715215007); Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (715215007); WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome (715215007); WAGR syndrome (715215007); WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome (715215007); Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome (715215007); 11p partial monosomy syndrome (4135001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): PAX6 (11p13); WT1 (11p13)
 
Monarch Initiative: MONDO:0008681
OMIM®: 194072
Orphanet: ORPHA893

Disease characteristics

Excerpted from the GeneReview: PAX6-Related Aniridia
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues. [from GeneReviews]
Authors:
Mariya Moosajee  |  Melanie Hingorani  |  Anthony T Moore   view full author information

Additional description

From MedlinePlus Genetics
Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary abnormality in affected males is undescended testes (cryptorchidism). Affected females may not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. Females with WAGR syndrome may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term.

Intellectual disability and other developmental delays are also common in people with WAGR syndrome. Affected individuals often have difficulty processing, learning, and properly responding to information. Many affected individuals have difficulty speaking or understanding language. Some individuals with WAGR syndrome also have psychiatric or behavioral problems such as depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism spectrum disorder that affects communication and social interaction.

People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Some people with WAGR syndrome develop nephrogenic rests, which are abnormal clumps of cells in the kidneys. These can lead to Wilms tumor, but some people with nephrogenic rests never develop Wilms tumor.

Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can reduce the sharpness of a person's vision (visual acuity) and increase sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).

Other signs and symptoms of WAGR syndrome can include ongoing constipation, inflammation of the pancreas (pancreatitis), kidney failure, breathing problems, and allergies. Some affected children have obesity. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.

WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and a range of developmental delays.  https://medlineplus.gov/genetics/condition/wagr-syndrome

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Kidney disorder
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Congenital uterine anomaly
MedGen UID:
78598
Concept ID:
C0266383
Congenital Abnormality
An abnormality of the uterus.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Abnormal vagina morphology
MedGen UID:
343460
Concept ID:
C1856023
Finding
Any structural abnormality of the vagina.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Congenital aniridia
MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV11p partial monosomy syndrome

Professional guidelines

PubMed

Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

Curated

Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A
Eur J Hum Genet 2011 Apr;19(4) Epub 2011 Jan 12 doi: 10.1038/ejhg.2010.220. PMID: 21224893Free PMC Article

Recent clinical studies

Etiology

Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T
Brain Dev 2022 Mar;44(3):229-233. Epub 2021 Dec 6 doi: 10.1016/j.braindev.2021.11.006. PMID: 34876316
Hol JA, Jongmans MCJ, Sudour-Bonnange H, Ramírez-Villar GL, Chowdhury T, Rechnitzer C, Pal N, Schleiermacher G, Karow A, Kuiper RP, de Camargo B, Avcin S, Redzic D, Wachtel A, Segers H, Vujanic GM, van Tinteren H, Bergeron C, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM; International Society of Pediatric Oncology Renal Tumor Study Group (SIOP-RTSG)
Cancer 2021 Feb 15;127(4):628-638. Epub 2020 Nov 4 doi: 10.1002/cncr.33304. PMID: 33146894Free PMC Article
Kostovski M, Tasic V, Laban N, Polenakovic M, Danilovski D, Gucev Z
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013. PMID: 29668472
Al-Hussain T, Ali A, Akhtar M
Adv Anat Pathol 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. PMID: 24713986
Wu HY, Snyder HM 3rd, D'Angio GJ
Curr Opin Urol 2005 Jul;15(4):273-6. doi: 10.1097/01.mou.0000172403.69890.eb. PMID: 15928519

Diagnosis

Hol JA, Jongmans MCJ, Sudour-Bonnange H, Ramírez-Villar GL, Chowdhury T, Rechnitzer C, Pal N, Schleiermacher G, Karow A, Kuiper RP, de Camargo B, Avcin S, Redzic D, Wachtel A, Segers H, Vujanic GM, van Tinteren H, Bergeron C, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM; International Society of Pediatric Oncology Renal Tumor Study Group (SIOP-RTSG)
Cancer 2021 Feb 15;127(4):628-638. Epub 2020 Nov 4 doi: 10.1002/cncr.33304. PMID: 33146894Free PMC Article
Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Bökenkamp A, Ludwig M
Pediatr Nephrol 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24 doi: 10.1007/s00467-016-3343-3. PMID: 27011217Free PMC Article
Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M
Pediatrics 2005 Oct;116(4):984-8. doi: 10.1542/peds.2004-0467. PMID: 16199712
Wu HY, Snyder HM 3rd, D'Angio GJ
Curr Opin Urol 2005 Jul;15(4):273-6. doi: 10.1097/01.mou.0000172403.69890.eb. PMID: 15928519

Therapy

Nishi K, Kamei K, Ogura M, Sato M, Ishiwa S, Shioda Y, Kiyotani C, Matsumoto K, Nozu K, Ishikura K, Ito S
Pediatr Nephrol 2021 Nov;36(11):3699-3709. Epub 2021 May 14 doi: 10.1007/s00467-021-05115-7. PMID: 33988732
Ehrlich PF, Chi YY, Chintagumpala MM, Hoffer FA, Perlman EJ, Kalapurakal JA, Tornwall B, Warwick A, Shamberger RC, Khanna G, Hamilton TE, Gow KW, Paulino AC, Gratias EJ, Mullen EA, Geller JI, Grundy PE, Fernandez CV, Dome JS
Cancer 2020 Aug 1;126(15):3516-3525. Epub 2020 May 27 doi: 10.1002/cncr.32958. PMID: 32459384Free PMC Article
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Farooqi IS
Best Pract Res Clin Endocrinol Metab 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. PMID: 16150380
Wu HY, Snyder HM 3rd, D'Angio GJ
Curr Opin Urol 2005 Jul;15(4):273-6. doi: 10.1097/01.mou.0000172403.69890.eb. PMID: 15928519

Prognosis

Kostovski M, Tasic V, Laban N, Polenakovic M, Danilovski D, Gucev Z
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013. PMID: 29668472
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Al-Hussain T, Ali A, Akhtar M
Adv Anat Pathol 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. PMID: 24713986

Clinical prediction guides

Torban E, Goodyer P
Am J Physiol Renal Physiol 2024 Jan 1;326(1):F3-F19. Epub 2023 Nov 2 doi: 10.1152/ajprenal.00248.2023. PMID: 37916284
Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T
Brain Dev 2022 Mar;44(3):229-233. Epub 2021 Dec 6 doi: 10.1016/j.braindev.2021.11.006. PMID: 34876316
Nishi K, Kamei K, Ogura M, Sato M, Ishiwa S, Shioda Y, Kiyotani C, Matsumoto K, Nozu K, Ishikura K, Ito S
Pediatr Nephrol 2021 Nov;36(11):3699-3709. Epub 2021 May 14 doi: 10.1007/s00467-021-05115-7. PMID: 33988732
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
Dumoucel S, Gauthier-Villars M, Stoppa-Lyonnet D, Parisot P, Brisse H, Philippe-Chomette P, Sarnacki S, Boccon-Gibod L, Rossignol S, Baumann C, Aerts I, Bourdeaut F, Doz F, Orbach D, Pacquement H, Michon J, Schleiermacher G
Pediatr Blood Cancer 2014 Jan;61(1):140-4. Epub 2013 Aug 23 doi: 10.1002/pbc.24709. PMID: 23970395

Recent systematic reviews

Woodford EC, McLay L, France KG, Blampied NM, Gibbs R, Swan CE, Eggleston M
Sleep Med Rev 2021 Jun;57:101433. Epub 2021 Jan 17 doi: 10.1016/j.smrv.2021.101433. PMID: 33561678

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