AN1
MCID: ANR002
MIFTS: 64

Aniridia (AN1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

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Aliases & Descriptions for Aniridia:

Name: Aniridia 52 11 23 48 24 25 27 12 50 39 13
Cataract with Late-Onset Corneal Dystrophy 52 27
Congenital Aniridia 25 27
Aniridia Type Ii 70 27
Aniridia 1 70 27
Aplasia of Iris 11
 
Absent Iris 25
Irideremia 25
An1 70
An2 70
an 70

Characteristics:

HPO:

64
aniridia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%...


Classifications:



External Ids:

OMIM52 106210
Disease Ontology11 DOID:12271
ICD1030 Q13.1
ICD9CM32 743.45
SNOMED-CT62 204161008, 69278003
MeSH39 D015783
NCIt45 C84563
MedGen37 C0003076

Summaries for Aniridia

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NIH Rare Diseases:48 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). this combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. people with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. many of these eye problems contribute to progressive vision loss in affected individuals. occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. aniridia may occur either as an isolated eye abnormality or as part of the wilms tumor-aniridia-genital anomalies-retardation (wagr) syndrome. isolated aniridia may be caused by mutations in the pax6 gene and is inherited in an autosomal dominant pattern. last updated: 10/19/2016

MalaCards based summary: Aniridia, also known as cataract with late-onset corneal dystrophy, is related to peters anomaly and aphakia, congenital primary, and has symptoms including glaucoma, cataract and aniridia. An important gene associated with Aniridia is PAX6 (Paired Box 6), and among its related pathways are Regulation of beta-cell development and Mesodermal Commitment Pathway. Affiliated tissues include eye, kidney and pituitary, and related mouse phenotypes are pigmentation and embryo.

Genetics Home Reference:25 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

OMIM:52 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

UniProtKB/Swiss-Prot:70 Aniridia 1: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

Wikipedia:71 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews for NBK1360

Related Diseases for Aniridia

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Diseases in the Aniridia family:

Aniridia 3

Diseases related to Aniridia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly31.9CYP1B1, FOXC1, PAX6
2aphakia, congenital primary30.8FOXC1, FOXE3, PAX6, PITX2, PITX3
3aniridia 312.0
4hair-an syndrome12.0
5wagr syndrome11.9
6isolated aniridia11.9
7gillespie syndrome11.9
8systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease11.9
9aniridia and absent patella11.8
10aniridia - ptosis - intellectual disability - familial obesity11.8
11aniridia renal agenesis psychomotor retardation11.8
12aniridia, partial, with unilateral renal agenesis and psychomotor retardation11.8
13sickle cell disease associated with an other hemoglobin anomaly11.7
14hemophagocytic syndrome associated with an infection11.7
15silver-russell syndrome due to an imprinting defect of 11p1511.7
16polydactyly of an index finger, unilateral11.7
17polydactyly of an index finger, bilateral11.7
18acute lymphoblastic leukemia congenital sporadic aniridia11.7
19wilms tumor-aniridia-genital anomalies-retardation syndrome11.7
20aniridia-intellectual disability syndrome11.7
21acanthosis nigricans11.4
22acute necrotizing encephalopathy11.1
23encephalopathy, acute, infection-induced, 411.1
24achromatopsia-411.1
25alopecia, neurologic defects, and endocrinopathy syndrome11.0
26polydactyly, preaxial iii10.9
27aneurysm10.7
28anterior segment mesenchymal dysgenesis10.7
29corneal opacification and other ocular anomalies10.7
30axenfeld-rieger syndrome, type 110.7
31iridogoniodysgenesis, type 210.7
32iridogoniodysgenesis, type 110.7
33foveal hypoplasia 110.7
34foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.7
35anterior segment dysgenesis 810.7
36bile duct cystadenocarcinoma10.7
37morel's ear10.7
38ataxia neuropathy spectrum10.7
39immunodeficiency due to a classical component pathway complement deficiency10.7
40wagro syndrome10.7
41walker dyson syndrome10.7
42zazam sheriff phillips syndrome10.7
43leukemia10.7
44aortic aneurysm10.6
45hepatitis10.6
46meningitis10.6
47breast cancer10.6
48myocardial infarction10.6
49asthma10.6
50rheumatoid arthritis10.6

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms & Phenotypes for Aniridia

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Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 glaucoma64 HP:0000501
2 cataract64 HP:0000518
3 aniridia64 HP:0000526
4 optic nerve hypoplasia64 HP:0000609
5 nystagmus64 HP:0000639
6 hypoplasia of the fovea64 HP:0007750
7 opacification of the corneal stroma64 HP:0007759
8 abnormality of the genital system64 HP:0000078
9 abnormality of the teeth64 HP:0000164
10 sensorineural hearing impairment64 HP:0000407
11 microcornea64 HP:0000482
12 strabismus64 HP:0000486
13 visual impairment64 HP:0000505
14 ptosis64 HP:0000508
15 keratoconus64 HP:0000563
16 optic nerve coloboma64 HP:0000588
17 photophobia64 HP:0000613
18 abnormality of the hypothalamus-pituitary axis64 HP:0000864
19 ectopia lentis64 HP:0001083
20 keratoconjunctivitis sicca64 HP:0001097
21 macular hypoplasia64 HP:0001104
22 intellectual disability64 HP:0001249
23 global developmental delay64 HP:0001263
24 umbilical hernia64 HP:0001537
25 abnormality of the sense of smell64 HP:0004408
26 aplasia/hypoplasia of the corpus callosum64 HP:0007370
27 iris hypopigmentation64 HP:0007730
28 macular hypopigmentation64 HP:0007988
29 aplasia/hypoplasia of the iris64 HP:0008053
30 corneal neovascularization64 HP:0011496
31 short palpebral fissure64 HP:0012745
32 corneal erosion64 HP:0200020

MGI Mouse Phenotypes related to Aniridia according to GeneCards Suite gene sharing:

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, OTX2, PAX6, PITX2, PITX3
2MP:00053809.2FOXC1, IGF2, LGR4, OTX2, PAX6, PITX2
3MP:00053699.2FOXC1, IGF2, OTX2, PAX6, PDX1, PITX2
4MP:00053818.9FOXC1, IGF2, LGR4, OTX2, PAX6, PDX1
5MP:00053888.8FOXC1, IGF2, OTX2, PAX6, PITX2, PITX3
6MP:00053708.5FOXC1, IGF2, LGR4, PDX1, PITX2, PITX3
7MP:00030128.1IGF2, KRT12, LGR4, PDX1, PITX2, PITX3
8MP:00053858.0FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
9MP:00028738.0FOXC1, KRT12, LUZP2, OTX2, PAX4, PAX6
10MP:00053897.9FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
11MP:00053797.4FOXC1, IGF2, LGR4, OTX2, PAX4, PAX6
12MP:00053847.2CAT, FOXC1, IGF2, LGR4, NR2E1, OTX2
13MP:00053787.0FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX4
14MP:00053766.8CAT, CYP1B1, FOXC1, IGF2, LGR4, OTX2
15MP:00053916.5CYP1B1, FOXC1, IGF2, KRT12, LGR4, NR2E1

Drugs & Therapeutics for Aniridia

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Drugs for Aniridia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hemostatics1443

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell DeficiencyUnknown statusNCT00845117Phase 1, Phase 2
2Study of Ataluren in Patients With AniridiaRecruitingNCT02647359Phase 2
3Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialRecruitingNCT02318485Phase 2
4Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete AniridiaActive, not recruitingNCT00812708Phase 1
5Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
6Positive Angle KappaCompletedNCT01644552
7Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
8Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
9Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
10Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893
11Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris DefectsRecruitingNCT01860612
12Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
13Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis ImplantationActive, not recruitingNCT02945176

Search NIH Clinical Center for Aniridia


Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia

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Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia 127
2 Cataract with Late-Onset Corneal Dystrophy27
3 Aniridia27 24 PAX6
4 Congenital Aniridia27
5 Aniridia 227

Anatomical Context for Aniridia

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MalaCards organs/tissues related to Aniridia:

36
Eye, Kidney, Pituitary, Hypothalamus, Endothelial, Brain, Bone

Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 547)
idTitleAuthorsYear
1
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. (28300742)
2017
2
Molecular Analysis of Patients with Aniridia in Russian Federation Broadens the Spectrum of PAX6 Mutations. (28321846)
2017
3
Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia. (28510772)
2017
4
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. (27771509)
2017
5
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. (28157223)
2017
6
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. (28231309)
2017
7
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. (28488383)
2017
8
Long-term results after artificial iris implantation in patients with aniridia. (26892143)
2016
9
PAX6, brain structure and function in human adults: advanced MRI in aniridia. (27231702)
2016
10
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. (27109391)
2016
11
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. (26849621)
2016
12
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. (27081561)
2016
13
Management of aniridia and iris defects: an update on iris prosthesis options. (26871656)
2016
14
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. (27124303)
2016
15
Identification of a novel frameshift heterozygous deletion in exonA 8 of the PAX6 gene in a pedigree with aniridia. (27431685)
2016
16
Congenital Aniridia with Ectopia Lentis. (27630877)
2016
17
Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report. (27829389)
2016
18
Large Pupils in Infancy. . .Suspected Aniridia. (26835993)
2016
19
Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye. (26840167)
2016
20
Assessment of PAX6 alleles in 66 families with aniridia. (26661695)
2016
21
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. (26949363)
2016
22
Transpupillary Argon Laser Cyclophotocoagulation in a Refractory Traumatic Glaucoma Patient with Aphakia and Aniridia. (27800256)
2016
23
Prevention of Silicone Oil Migration and Baerveldt Tube Blockage in Retinal Detachment Surgery with Partial Aniridia. (27116526)
2016
24
Congenital Aniridia and the Ocular Surface. (26738798)
2016
25
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. (27160090)
2016
26
A nonsense PAX6 mutation in a family with congenital aniridia. (28018434)
2016
27
Clinical utility gene card for: Aniridia. (27381094)
2016
28
Anesthetic management of a patient with Wilms tumor, aniridia, genital anomalies and mental retardation syndrome undergoing right nephrectomy. (25948930)
2015
29
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. (25687215)
2015
30
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. (25724657)
2015
31
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. (25678763)
2015
32
The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia. (26648453)
2015
33
A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. (25628759)
2015
34
A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies. (26419218)
2015
35
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. (26394807)
2015
36
Sutureless artificial iris after phacoemulsification in congenital aniridia. (25738840)
2015
37
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. (26703494)
2015
38
A novel PAX6 deletion in a Chinese family with congenital aniridia. (25746674)
2015
39
A rare PAX6 mutation in a Chinese family with congenital aniridia. (26535646)
2015
40
Silicone Oil Retention Sutures for Retinal Detachment Repair Following Traumatic Aniridia, Aphakia, and Ruptured Globe. (26356004)
2015
41
Phacoemulsification with implantation of Morcher aniridia capsular rings for postoperative atonic pupil after iridencleisis--case report. (26349153)
2015
42
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. (25696017)
2015
43
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. (26451366)
2015
44
Keratopathy, cataract, and dry eye in a survey of aniridia subjects. (25709391)
2015
45
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated. (25621140)
2015
46
Long-term efficacy and complications of black diaphragm intraocular lens implantation in patients with traumatic aniridia. (25370083)
2014
47
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities. (24787241)
2014
48
Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors. (25435751)
2014
49
Traumatic aniridia after trabeculectomy. (24651571)
2014
50
Rare association of familial aniridia, microcornea with myopia and aphakia. (25100915)
2014

Variations for Aniridia

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UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

70 (show all 28)
id Symbol AA change Variation ID SNP ID
1PAX6p.Asn17SerVAR_003808
2PAX6p.Gly18TrpVAR_003809
3PAX6p.Ile29ValVAR_003811
4PAX6p.Arg44GlnVAR_003812
5PAX6p.Ile87ArgVAR_003813
6PAX6p.Gln178HisVAR_003815
7PAX6p.Arg208TrpVAR_003816rs757259413
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704rs121907928
16PAX6p.Val126AspVAR_008705rs121907919
17PAX6p.Arg208GlnVAR_008706rs749244084
18PAX6p.Ser353AlaVAR_008707rs373661718
19PAX6p.Gln422ArgVAR_008708rs780356070
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866rs121907927
28PAX6p.Gly395ArgVAR_067698

Clinvar genetic disease variations for Aniridia:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ELP4NM_ 019040.4(ELP4): c.1143+14176C> ASNVPathogenicrs606231388GRCh38Chr 11, 31664397: 31664397
2PAX6NM_ 000280.4(PAX6): c.894_ 895insCAGTGTCTACCAACCA (p.Ile299Glnfs)insertionPathogenicrs797044627GRCh37Chr 11, 31815221: 31815222
3PAX6NM_ 000280.4(PAX6): c.1242_ 1243insATATG (p.Ser415Ilefs)insertionPathogenicrs797044642GRCh37Chr 11, 31811508: 31811509
4PAX6NM_ 000280.4(PAX6): c.358delG (p.Val120Cysfs)deletionPathogenicrs886042838GRCh37Chr 11, 31822404: 31822404
5PAX6NM_ 000280.4(PAX6): c.482delG (p.Gly161Valfs)deletionPathogenicrs886043350GRCh37Chr 11, 31822280: 31822280
6PAX6NM_ 000280.4(PAX6): c.52G> C (p.Gly18Arg)SNVLikely pathogenicrs886044289GRCh37Chr 11, 31824341: 31824341
7PAX6PAX6, 2-BP INSinsertionPathogenic
8PAX6PAX6, EXON G DELdeletionPathogenic
9PAX6NM_ 000280.4(PAX6): c.406C> T (p.Gln136Ter)SNVPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
10PAX6NM_ 000280.4(PAX6): c.76C> G (p.Arg26Gly)SNVPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
11PAX6NM_ 000280.4(PAX6): c.307C> T (p.Arg103Ter)SNVPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
12PAX6NG_ 008679.1: g.32252G> CSNVPathogenicGRCh38Chr 11, 31790710: 31790860
13PAX6NM_ 000280.4(PAX6): c.607C> T (p.Arg203Ter)SNVPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
14PAX6NM_ 000280.4(PAX6): c.718C> T (p.Arg240Ter)SNVPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
15PAX6NM_ 000280.4(PAX6): c.1033-2A> GSNVPathogenicrs794726661GRCh38Chr 11, 31790862: 31790862
16PAX6NM_ 000280.4(PAX6): c.1268A> T (p.Ter423Leu)SNVPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
17PAX6NM_ 000280.4(PAX6): c.725G> C (p.Arg242Thr)SNVPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
18PAX6NM_ 000280.4(PAX6): c.357C> A (p.Ser119Arg)SNVPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
19PAX6NM_ 000280.4(PAX6): c.-129+2T> ASNVPathogenicrs878852979GRCh38Chr 11, 31810826: 31810826
20PAX6NM_ 000280.4(PAX6): c.771G> A (p.Trp257Ter)SNVPathogenicrs121907929GRCh37Chr 11, 31815345: 31815345
21DCDC1; DNAJC24; ELP4; IMMP1LNC_ 000011.9: g.(?_ 31147306)_ (31714853_ ?)delcopy number lossPathogenicGRCh37Chr 11, 31147306: 31714853
22DCDC1; DNAJC24; ELP4; IMMP1LNC_ 000011.9: g.(?_ 31186493)_ (31698208_ ?)delcopy number lossPathogenicGRCh37Chr 11, 31186493: 31698208
23PAX6NC_ 000011.9: g.(?_ 31820789)_ (31824052_ ?)delcopy number lossPathogenicGRCh37Chr 11, 31820789: 31824052
24ELP4; PAX6NC_ 000011.9: g.(?_ 31760458)_ (31823847_ ?)delcopy number lossPathogenicGRCh37Chr 11, 31760458: 31823847
25subset of 47 genes:PAX6NC_ 000011.9: g.(?_ 18536224)_ (31923308_ ?)delcopy number lossPathogenicGRCh37Chr 11, 18536224: 31923308
26DCDC1; DNAJC24; ELP4; IMMP1LNC_ 000011.9: g.(?_ 31083877)_ (31704548_ ?)delcopy number lossPathogenicGRCh37Chr 11, 31083877: 31704548
27PAX6NM_ 000280.4(PAX6): c.112C> T (p.Arg38Trp)SNVPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281
28PAX6NM_ 000280.4(PAX6): c.357+1G> ASNVPathogenicrs398123295GRCh37Chr 11, 31823108: 31823108
29PAX6NM_ 000280.4(PAX6): c.46delG (p.Val16Serfs)deletionPathogenicrs398123296GRCh37Chr 11, 31824347: 31824347

Copy number variations for Aniridia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
131786113100000036400000Copy numberPAX6Aniridia syndrome
25132111125001547125215177DeletionPAX6Aniridia syndrome
353570113100000036400000DeletionWT1Aniridia syndrome

Expression for genes affiliated with Aniridia

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Search GEO for disease gene expression data for Aniridia.

Pathways for genes affiliated with Aniridia

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GO Terms for genes affiliated with Aniridia

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Biological processes related to Aniridia according to GeneCards Suite gene sharing:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.9FOXC1, PAX6
2cornea development in camera-type eyeGO:006130310.8FOXE3, PAX6
3negative regulation of neural precursor cell proliferationGO:200017810.7NR2E1, PAX6
4trabecular meshwork developmentGO:000293010.7CYP1B1, FOXE3
5response to vitamin AGO:003318910.6CAT, PITX2
6eye developmentGO:000165410.6FOXC1, FOXE3, PAX6
7iris morphogenesisGO:006107210.6FOXE3, PAX6, PITX2
8male genitalia developmentGO:003053910.6LGR4, WT1
9kidney developmentGO:000182210.5CAT, FOXC1, WT1
10response to fatty acidGO:007054210.4CAT, PDX1
11type B pancreatic cell differentiationGO:000330910.4PAX6, PDX1
12endocrine pancreas developmentGO:003101810.3PAX4, PDX1
13positive regulation of DNA bindingGO:004338810.3FOXC1, PDX1, PITX2
14negative regulation of neurogenesisGO:005076810.3PAX6, PITX3
15ureteric bud developmentGO:000165710.3CAT, FOXC1, WT1
16brain developmentGO:000742010.2FOXC1, NR2E1, PAX6, PITX2
17retina development in camera-type eyeGO:006004110.2NR2E1, PAX4, PAX6
18dopaminergic neuron differentiationGO:007154210.1OTX2, PITX3
19lens development in camera-type eyeGO:000208810.0FOXE3, PAX6, PITX3
20camera-type eye developmentGO:00430109.7FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
21negative regulation of apoptotic processGO:00430669.6CAT, FOXE3, NR2E1, PAX4, WT1
22regulation of transcription from RNA polymerase II promoterGO:00063579.6ELP4, FOXE3, PAX6, PDX1, PITX2, WT1
23regulation of gene expressionGO:00104689.5PAX6, PDX1, PITX3, TRIM44
24negative regulation of transcription from RNA polymerase II promoterGO:00001229.5FOXC1, NR2E1, PAX4, PDX1, WT1
25animal organ morphogenesisGO:00098879.0PAX4, PAX6, PDX1, PITX2, PITX3
26visual perceptionGO:00076019.0CYP1B1, KRT12, NR2E1, PAX6
27transcription from RNA polymerase II promoterGO:00063668.3FOXC1, FOXE3, OTX2, PAX6, PDX1, PITX2
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.2FOXC1, NR2E1, OTX2, PAX6, PDX1, PITX2
29positive regulation of transcription, DNA-templatedGO:00458938.1FOXC1, LGR4, OTX2, PAX6, PDX1, PITX2
30transcription, DNA-templatedGO:00063517.8ELP4, FOXC1, FOXE3, NR2E1, PAX4, PAX6
31multicellular organism developmentGO:00072757.5IGF2, LGR4, NR2E1, OTX2, PAX4, PAX6
32regulation of transcription, DNA-templatedGO:00063557.0ELP4, FOXC1, FOXE3, IGF2, NR2E1, OTX2

Molecular functions related to Aniridia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.3FOXC1, FOXE3, PAX6, PITX2
2transcription factor bindingGO:00081349.9FOXC1, PAX6, PDX1, PITX2
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.0OTX2, PAX6, PDX1, PITX2, PITX3
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.2NR2E1, OTX2, PAX6, PITX2, PITX3, WT1
5transcription factor activity, sequence-specific DNA bindingGO:00037007.8FOXC1, FOXE3, NR2E1, OTX2, PAX6, PDX1
6DNA bindingGO:00036777.5FOXC1, FOXE3, NR2E1, OTX2, PAX4, PAX6
7sequence-specific DNA bindingGO:00435657.4FOXC1, FOXE3, NR2E1, OTX2, PAX4, PAX6

Sources for Aniridia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet