Details of Disease

General Information of Disease (ID: DIS1P333)

Disease Name	Aniridia
Synonyms	aplasia of iris
Disease Class	LA11: Eye anterior segment structural developmental anomaly
Definition	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISN0FUI: Iris disorder DIS1P333: Aniridia
ICD Code	ICD-11 ICD-11: LA11.3 ICD-10 ICD-10: Q13.1 Expand ICD-11 'LA11.3 Expand ICD-10 'Q13.1
Disease Identifiers	MONDO ID MONDO_0019172 MESH ID D015783 UMLS CUI C0003076 MedGen ID 1941 HPO ID HP:0000526 SNOMED CT ID 69278003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Ataluren	DM4GXW3	Phase 3	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	TTNT3YA	Limited	Biomarker	[2]
WT1	TTZ8UT4	Limited	Biomarker	[3]
ADH7	TT3LE7P	Strong	Biomarker	[4]
DCPS	TTLSW9V	Strong	Biomarker	[5]
FOXC1	TTNT3YA	Strong	Autosomal dominant	[6]
LGR4	TTY6C71	Strong	Biomarker	[7]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELP4	OTP5GZ9V	Limited	Biomarker	[8]
PAX3	OTN5PJZV	Limited	Genetic Variation	[9]
RASSF7	OT0V4EIZ	Limited	Biomarker	[10]
FOXD3	OTXYV6GO	Disputed	Autosomal dominant	[11]
PITX2	OTWMXAOY	Moderate	Autosomal dominant	[12]
FOXC1	OTOWZGYO	Strong	Autosomal dominant	[6]
FOXE3	OTAUDKC1	Strong	Genetic Variation	[13]
GPR143	OTWUA2AV	Strong	Genetic Variation	[14]
KIF21A	OT511XD9	Strong	Genetic Variation	[15]
KRT12	OTFOWNH2	Strong	Altered Expression	[16]
PHF21A	OTU3FFG4	Strong	Biomarker	[17]
SERPINB1	OT5RDUFO	Strong	Biomarker	[4]
SIX6	OTD1RD9D	Strong	Genetic Variation	[18]
TRIM44	OT0B1T2B	Strong	GermlineCausalMutation	[19]
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⏷ Show the Full List of 14 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.Ophthalmic Genet. 2018 Dec;39(6):728-734. doi: 10.1080/13816810.2018.1547911. Epub 2018 Nov 20.
3	Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.Curr Eye Res. 2020 Jan;45(1):91-96. doi: 10.1080/02713683.2019.1649704. Epub 2019 Aug 14.
4	Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model.Exp Eye Res. 2019 Feb;179:8-17. doi: 10.1016/j.exer.2018.10.002. Epub 2018 Oct 4.
5	Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8.
6	Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3573-9. doi: 10.1167/iovs.08-3032. Epub 2009 Mar 11.
7	LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. J Biol Chem. 2014 Mar 28;289(13):8767-80. doi: 10.1074/jbc.M113.530816. Epub 2014 Feb 11.
8	PAX6 aniridia syndrome: clinics, genetics, and therapeutics.Curr Opin Ophthalmol. 2017 Sep;28(5):436-447. doi: 10.1097/ICU.0000000000000405.
9	Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.Nat Genet. 1993 Apr;3(4):292-8. doi: 10.1038/ng0493-292.
10	HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.Proc Natl Acad Sci U S A. 1987 Aug;84(15):5355-9. doi: 10.1073/pnas.84.15.5355.
11	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
12	Genetic and genomic analysis of classic aniridia in Saudi Arabia. Mol Vis. 2011 Mar 11;17:708-14.
13	Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.Mol Vis. 2010 Aug 22;16:1705-11.
14	Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.Int Ophthalmol. 2011 Apr;31(2):117-20. doi: 10.1007/s10792-011-9424-1. Epub 2011 Jan 25.
15	Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.BMC Med Genet. 2013 Jun 21;14:63. doi: 10.1186/1471-2350-14-63.
16	Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.Exp Eye Res. 2018 Feb;167:100-109. doi: 10.1016/j.exer.2017.11.005. Epub 2017 Nov 21.
17	Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.
18	Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.Mol Vis. 2009 Dec 27;15:2911-8.
19	Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. Hum Mutat. 2015 Dec;36(12):1164-7. doi: 10.1002/humu.22907. Epub 2015 Oct 9.