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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

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
Cronemberger S, Albuquerque ALB, Silva ACSE, Zanini JLSS, da Silva AHG, Barbosa LF, da Cunha Rubião F, de Lima FL, Casimiro RF, Martins MP, Diniz-Filho A, Bastos-Rodrigues L, Friedman E, De Marco L
Acta Paediatr 2024 Jun;113(6):1420-1425. Epub 2024 Feb 16 doi: 10.1111/apa.17160. PMID: 38363039
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
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
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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium, Becker EBE, Németh AH
Mov Disord 2024 Jan;39(1):141-151. Epub 2023 Nov 14 doi: 10.1002/mds.29651. PMID: 37964426Free PMC Article
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
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
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

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

Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement.
Torrefranca AB, Carmona SM, Santiago APD, Cutiongco-Dela Paz E, Lingao MD
Ophthalmic Genet 2023 Oct;44(5):501-504. Epub 2022 Nov 28 doi: 10.1080/13816810.2022.2144904. PMID: 36440799
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
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR
Am J Med Genet A 2018 Jun;176(6):1427-1431. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38704. PMID: 29663667
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

Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants.
Bano S, Nawaz A, Nasim A, Numan A, Zahid M
J Coll Physicians Surg Pak 2024 Feb;34(2):187-192. doi: 10.29271/jcpsp.2024.02.187. PMID: 38342870
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

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