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Aniridia - intellectual disability syndrome

MedGen UID:
419752
•Concept ID:
C2931243
•
Disease or Syndrome
Synonyms: Aniridia associated with mental retardation and other eye abnormalities; Walker Dyson syndrome
SNOMED CT: Aniridia and intellectual disability syndrome (720468000)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015199
Orphanet: ORPHA1068

Definition

An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAniridia - intellectual disability syndrome
Follow this link to review classifications for Aniridia - intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

Facial dysostoses: Etiology, pathogenesis and management.
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
Clinical utility gene card for: WAGR syndrome.
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
Aniridia: current pathology and management.
Lee H, Khan R, O'Keefe M
Acta Ophthalmol 2008 Nov;86(7):708-15. Epub 2008 Oct 6 doi: 10.1111/j.1755-3768.2008.01427.x. PMID: 18937825

Recent clinical studies

Etiology

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.
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
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.
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
Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ
Cornea 2003 Mar;22(2):178-80. doi: 10.1097/00003226-200303000-00021. PMID: 12605058
Clinical and molecular evidence for the role of androgens and WT1 in testis descent.
Lim HN, Hughes IA, Hawkins JR
Mol Cell Endocrinol 2001 Dec 20;185(1-2):43-50. doi: 10.1016/s0303-7207(01)00631-1. PMID: 11738793
Transcription factors in disease.
Engelkamp D, van Heyningen V
Curr Opin Genet Dev 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. PMID: 8791518

Diagnosis

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M
Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov;96 Suppl 1:4-14. Epub 2021 Oct 22 doi: 10.1016/j.oftale.2021.02.002. PMID: 34836588
Aniridia as a clue for the diagnosis of Gillespie syndrome.
Rezende Filho FM, Pedroso JL, Freitas JL, Teixeira LF, Barsottini OGP
Arq Neuropsiquiatr 2020 Jun;78(6):383. doi: 10.1590/0004-282X20200013. PMID: 32609195
Clinical, molecular genetics and therapeutic aspects of syndromic obesity.
Geets E, Meuwissen MEC, Van Hul W
Clin Genet 2019 Jan;95(1):23-40. Epub 2018 May 21 doi: 10.1111/cge.13367. PMID: 29700824
The oculocerebrorenal syndrome of Lowe: an update.
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
Aniridia.
Hingorani M, Hanson I, van Heyningen V
Eur J Hum Genet 2012 Oct;20(10):1011-7. Epub 2012 Jun 13 doi: 10.1038/ejhg.2012.100. PMID: 22692063Free PMC Article

Therapy

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.
Vasilyeva TA, Marakhonov AV, Sukhanova NV, Kutsev SI, Zinchenko RA
Genes (Basel) 2020 Jul 17;11(7) doi: 10.3390/genes11070812. PMID: 32708836Free PMC Article
Results of Treatment for Patients With Multicentric or Bilaterally Predisposed Unilateral Wilms Tumor (AREN0534): A report from the Children's Oncology Group.
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
Haploinsufficiency of the brain-derived neurotrophic factor gene is associated with reduced pain sensitivity.
Sapio MR, Iadarola MJ, LaPaglia DM, Lehky T, Thurm AE, Danley KM, Fuhr SR, Lee MD, Huey AE, Sharp SJ, Tsao JW, Yanovski JA, Mannes AJ, Han JC
Pain 2019 May;160(5):1070-1081. doi: 10.1097/j.pain.0000000000001485. PMID: 30855519Free PMC Article
Genetic and hereditary aspects of childhood obesity.
Farooqi IS
Best Pract Res Clin Endocrinol Metab 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. PMID: 16150380
Wilm's tumour with WAGR complex.
Mathur P, Khamesera HL, Pendse AK, Chittora R, Porewal KK
Indian J Cancer 1996 Sep;33(3):136-8. PMID: 9055487

Prognosis

A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
Lind KT, Cost NG, Zegar K, Kuldanek SA, Enzenauer RW, Schneider KW
Ophthalmic Genet 2021 Apr;42(2):216-217. Epub 2020 Dec 10 doi: 10.1080/13816810.2020.1852577. PMID: 33300417
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH
Curr Eye Res 2020 Jan;45(1):91-96. Epub 2019 Aug 14 doi: 10.1080/02713683.2019.1649704. PMID: 31361967Free PMC Article
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.
Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, Sukhanova NV, Kadyshev VV, Kutsev SI, Zinchenko RA
Hum Mol Genet 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168. PMID: 31304537
Common genetic and epigenetic syndromes.
Adams DJ, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):411-26. Epub 2015 Jan 22 doi: 10.1016/j.pcl.2014.11.005. PMID: 25836705
Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ
Cornea 2003 Mar;22(2):178-80. doi: 10.1097/00003226-200303000-00021. PMID: 12605058

Clinical prediction guides

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.
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
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
Diel H, Ding C, Grehn F, Chronopoulos P, Bartsch O, Hoffmann EM
BMC Ophthalmol 2021 Jan 11;21(1):28. doi: 10.1186/s12886-020-01788-0. PMID: 33430815Free PMC Article
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH
Curr Eye Res 2020 Jan;45(1):91-96. Epub 2019 Aug 14 doi: 10.1080/02713683.2019.1649704. PMID: 31361967Free PMC Article
Haploinsufficiency of the brain-derived neurotrophic factor gene is associated with reduced pain sensitivity.
Sapio MR, Iadarola MJ, LaPaglia DM, Lehky T, Thurm AE, Danley KM, Fuhr SR, Lee MD, Huey AE, Sharp SJ, Tsao JW, Yanovski JA, Mannes AJ, Han JC
Pain 2019 May;160(5):1070-1081. doi: 10.1097/j.pain.0000000000001485. PMID: 30855519Free PMC Article
Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, Adler-Wailes DC, Sanford EL, Lacbawan FL, Uhl GR, Rennert OM, Yanovski JA
N Engl J Med 2008 Aug 28;359(9):918-27. doi: 10.1056/NEJMoa0801119. PMID: 18753648Free PMC Article

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