MCID: ANR002
MIFTS: 62

Aniridia malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

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Aliases & Descriptions for Aniridia:

Name: Aniridia 49 10 11 21 45 22 23 47 12 67 36 24
Cataract with Late-Onset Corneal Dystrophy 49 24
Congenital Aniridia 23 24
Aniridia Type Ii 67
Aniridia Type 2 65
 
Aplasia of Iris 10
Absent Iris 23
Irideremia 23
An2 67
an 67

Characteristics:

HPO:

61
aniridia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 106210
Disease Ontology10 DOID:12271
ICD1027 Q13.1
ICD9CM29 743.45
SNOMED-CT59 204161008, 69278003
MeSH36 D015783
NCIt42 C84563
MedGen34 C0003076
UMLS65 C0003076, C0344543

Summaries for Aniridia

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NIH Rare Diseases:45 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).  aniridia may occur either as an isolated eye abnormality or as part of the wilms tumor-aniridia-genital anomalies-retardation (wagr) syndrome. people with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). many of these eye problems contribute to progressive vision loss in affected individuals. the severity of symptoms is typically the same in both eyes.  rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.aniridia may be caused by mutations in the pax6 gene and is inherited in an autosomal dominant pattern. last updated: 6/6/2011 references national library of medicine. aniridia. genetics home reference. june 2009; http://ghr.nlm.nih.gov/condition/aniridia. accessed 3/30/2011. hingorani m, moore a. aniridia. genereviews. august 12, 2008; http://www.ncbi.nlm.nih.gov/books/nbk1360/. accessed 3/30/2011. gard video tutorials learn how to find information on treatment, research, specialists, and more. your questions answered view questions about this condition answered by gard information specialists. you can also submit a new question.

MalaCards based summary: Aniridia, also known as cataract with late-onset corneal dystrophy, is related to anterior segment mesenchymal dysgenesis and separation anxiety disorder, and has symptoms including aplasia/hypoplasia of the iris, abnormality of the macula and nystagmus. An important gene associated with Aniridia is PAX6 (Paired Box 6), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, brain and kidney, and related mouse phenotypes are craniofacial and tumorigenesis.

UniProtKB/Swiss-Prot:67 Aniridia: 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.

Genetics Home Reference:23 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:49 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

Wikipedia:68 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews summary for NBK1360

Related Diseases for Aniridia

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

(show top 50)    (show all 371)
idRelated DiseaseScoreTop Affiliating Genes
1anterior segment mesenchymal dysgenesis31.0FOXC1, FOXE3, PITX3
2separation anxiety disorder30.1CYP1B1, FOXC1, PAX6, PITX2
3anisometropia30.1CYP1B1, OTX2, PAX6
4waldenstrom macroglobulinemia30.0LGR4, LUZP2, PAX6, WT1
5hair-an syndrome12.4
6aniridia renal agenesis psychomotor retardation12.4
7aniridia - ptosis - intellectual disability - familial obesity12.3
8aniridia absent patella12.3
9isolated aniridia12.3
10sickle cell disease associated with an other hemoglobin anomaly12.2
11immunodeficiency due to an early component of complement deficiency12.2
12hemophagocytic syndrome associated with an infection12.2
13silver-russell syndrome due to an imprinting defect of 11p1512.2
14polydactyly of an index finger, unilateral12.2
15polydactyly of an index finger, bilateral12.2
16systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease12.2
17acute lymphoblastic leukemia congenital sporadic aniridia12.2
18wilms tumor-aniridia-genital anomalies-retardation syndrome12.2
19aniridia-intellectual disability syndrome12.2
20gillespie syndrome12.1
21wagr syndrome12.0
22wagro syndrome11.3
23walker dyson syndrome11.3
24zazam sheriff phillips syndrome11.3
25aphakia, congenital primary10.5FOXE3, PITX3
26iridogoniodysgenesis, type 210.4PITX2, PITX3
27isolated growth hormone deficiency, ghrh-related10.4FOXC1, PAX6, PITX2
28anophthalmos with limb anomalies10.4OTX2, PAX6
29acute contagious conjunctivitis10.4CYP1B1, FOXC1
30peeling skin syndrome10.4FOXC1, PAX6, PITX2
31ovarian disease10.4FOXE3, PAX6, PITX3
32leukemia10.4
33essential pentosuria10.4CYP1B1, PITX2
34hydrophthalmos10.3CYP1B1, FOXC1
35bacterial esophagitis10.3IGF2, PAX6
36functional diarrhea10.3FOXE3, OTX2, PAX6
37axenfeld-rieger syndrome, type 110.3
38foveal hypoplasia 110.3
39foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.3
40epithelial predominant wilms' tumor10.3IGF2, PAX6, WT1
41endotheliitis10.3
42primary familial brain calcification10.3CYP1B1, FOXC1
43thyroiditis10.2
44malignant breast melanoma10.2TYR, WT1
45leber congenital amaurosis10.2CYP1B1, KRT12, PAX6
46lung cancer10.2
47breast cancer10.2
48rapidly progressive glomerulonephritis10.1IGF2, WT1
49hepatitis10.1
50lymphoma10.1

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms for Aniridia

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Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

HPO human phenotypes related to Aniridia:

(show all 35)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
2 abnormality of the macula hallmark (90%) HP:0001103
3 nystagmus hallmark (90%) HP:0000639
4 visual impairment hallmark (90%) HP:0000505
5 opacification of the corneal stroma typical (50%) HP:0007759
6 cataract typical (50%) HP:0000518
7 glaucoma typical (50%) HP:0000501
8 strabismus typical (50%) HP:0000486
9 ptosis typical (50%) HP:0000508
10 blepharophimosis typical (50%) HP:0000581
11 photophobia typical (50%) HP:0000613
12 optic atrophy typical (50%) HP:0000648
13 ectopia lentis typical (50%) HP:0001083
14 keratoconjunctivitis sicca typical (50%) HP:0001097
15 abnormality of the macula typical (50%) HP:0001103
16 corneal erosion typical (50%) HP:0200020
17 abnormality of the genital system occasional (7.5%) HP:0000078
18 abnormality of the teeth occasional (7.5%) HP:0000164
19 sensorineural hearing impairment occasional (7.5%) HP:0000407
20 microcornea occasional (7.5%) HP:0000482
21 optic nerve coloboma occasional (7.5%) HP:0000588
22 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
23 ocular albinism occasional (7.5%) HP:0001107
24 umbilical hernia occasional (7.5%) HP:0001537
25 abnormality of the sense of smell occasional (7.5%) HP:0004408
26 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
27 cognitive impairment occasional (7.5%) HP:0100543
28 decreased corneal thickness occasional (7.5%) HP:0100689
29 opacification of the corneal stroma HP:0007759
30 hypoplasia of the fovea HP:0007750
31 nystagmus HP:0000639
32 optic nerve hypoplasia HP:0000609
33 aniridia HP:0000526
34 cataract HP:0000518
35 glaucoma HP:0000501

Drugs & Therapeutics for Aniridia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hemostatics1082

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris DefectsRecruitingNCT01860612Phase 3
2Study of Ataluren in Patients With AniridiaRecruitingNCT02647359Phase 2
3Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell DeficiencyActive, not recruitingNCT00845117Phase 1, Phase 2
4Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialNot yet recruitingNCT02318485Phase 2
5Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete AniridiaActive, not recruitingNCT00812708Phase 1
6Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
7Positive Angle KappaCompletedNCT01644552
8Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
9Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
10Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
11Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893

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 Aniridia22 PAX6

Anatomical Context for Aniridia

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MalaCards organs/tissues related to Aniridia:

33
Eye, Brain, Kidney, Breast, T cells, Heart, Liver

Animal Models for Aniridia or affiliated genes

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MGI Mouse Phenotypes related to Aniridia:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
2MP:00020068.9CAT, CYP1B1, PAX3, PAX6, TYR, WT1
3MP:00053708.8FOXC1, IGF2, LGR4, PAX3, PITX2, PITX3
4MP:00053698.8FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
5MP:00053818.7FOXC1, IGF2, LGR4, OTX2, PAX3, PAX6
6MP:00053888.6FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
7MP:00011868.6FOXC1, OTX2, PAX3, PAX6, PITX2, PITX3
8MP:00053678.5FOXC1, IGF2, LGR4, PAX3, PAX6, TYR
9MP:00053808.1FOXC1, IGF2, LGR4, OTX2, PAX3, PAX6
10MP:00053898.0FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
11MP:00030128.0IGF2, KRT12, LGR4, PAX3, PITX2, PITX3
12MP:00053908.0FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
13MP:00036317.5FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX3
14MP:00028737.5FOXC1, KRT12, LUZP2, OTX2, PAX3, PAX4
15MP:00053797.4FOXC1, IGF2, LGR4, OTX2, PAX3, PAX4
16MP:00053857.2FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX3
17MP:00053847.0CAT, FOXC1, IGF2, LGR4, NR2E1, OTX2
18MP:00053916.9CYP1B1, FOXC1, IGF2, KRT12, LGR4, NR2E1
19MP:00053786.8FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX3
20MP:00053766.6CAT, CYP1B1, FOXC1, IGF2, LGR4, OTX2

Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
Acute Hyperammonemia Induces NMDA-Mediated Hypophosphorylation of Intermediate Filaments Through PP1 and PP2B in Cerebral Cortex of Young Rats. (26936604)
2016
2
STAT3 signaling contributes to the high effector activities of interleukin-15-derived dendritic cells. (25582338)
2015
3
Circulating Soluble Fas and Fas Ligand Levels Are Elevated in Children with Nonalcoholic Steatohepatitis. (25764498)
2015
4
Pin1 promotes degradation of Smad proteins and their interaction with phosphorylated tau in Alzheimer's disease. (24964035)
2014
5
Loss of WISP2/CCN5 in estrogen-dependent MCF7 human breast cancer cells promotes a stem-like cell phenotype. (24498388)
2014
6
Increased copy number of the DLX4 homeobox gene in breast axillary lymph node metastasis. (24947980)
2014
7
Postoperative intussusception in a neonate with congenital cutis laxa and huge hiatal hernia. (24834384)
2014
8
Diffusion-weighted imaging changes caused by acute hypoglycemia and prolonged febrile convulsion in childhood. (23471020)
2013
9
A single nucleotide polymorphism in the p27(Kip1) gene is associated with primary patency of lower extremity vein bypass grafts. (23312942)
2013
10
Perioperative infection in the patient with rheumatic disease. (24150870)
2013
11
SCF(Fbxo9) and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. (23263282)
2013
12
EBV reactivation serological profile in primary SjAPgren's syndrome: an underlying trigger of active articular involvement? (22955798)
2013
13
Differences in the enzymatic efficiency of human and bony fish AID are mediated by a single residue in the C terminus modulating single-stranded DNA binding. (22198384)
2012
14
Aggressive management of pulmonary embolism. (23449070)
2012
15
A case of pulmonary and hepatic cystic Echinococcosis of CE1 stage in a healthy Japanese female that was suspected to have been acquired during her stay in the United Kingdom. (21896804)
2011
16
Quantitative prediction of the arrhythmogenic effects of de novo hERG mutations in computational models of human ventricular tissues. (21234558)
2011
17
Giant cell tumor of the metacarpal bones. (21886934)
2011
18
Fluorescence intensity- and lifetime-based glucose sensing using an engineered high-Kd mutant of glucose/galactose-binding protein. (19961827)
2010
19
Phosphodiesterase type 5 (PDE5) inhibitors for the treatment of erectile dysfunction. (20402554)
2010
20
Characterization of in vivo keratin 19 phosphorylation on tyrosine- 391. (21049038)
2010
21
Nephrogenic systemic fibrosis: a review. (20677539)
2010
22
Expression of Notch-1 and alteration of the E-cadherin/beta-catenin cell adhesion complex are observed in primary cutaneous neuroendocrine carcinoma (Merkel cell carcinoma). (19396152)
2009
23
The effect of oral contraceptives on aromatase expression in the eutopic endometrium of patients with endometriosis. (18335325)
2008
24
Young children (<5 yr) and adolescents (>12 yr) with type 1 diabetes mellitus have low rate of partial remission: diabetic ketoacidosis is an important risk factor. (18547233)
2008
25
Longitudinal noninvasive monitoring of transcription factor activation in cardiovascular regulatory nuclei using bioluminescence imaging. (18230667)
2008
26
Hepatitis B vaccine-specific CD4(+) T cells can be detected and characterised at the single cell level: limited usefulness of dendritic cells as signal enhancers. (18061610)
2008
27
Correlation between genetic and biological aspects in primary non-metastatic breast cancers and corresponding synchronous axillary lymph node metastasis. (16835704)
2007
28
Attenuation of leptin and insulin signaling by SOCS proteins. (17010638)
2006
29
Effect of dietary antioxidants and risk of oral, pharyngeal and laryngeal squamous cell carcinoma according to smoking and drinking habits. (16800818)
2006
30
Administration of estramustine in response to changes in the prostate-specific antigen and Karnofsky index in the treatment of prostate cancer. (15999550)
2005
31
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? (16189344)
2005
32
Microbial metabolites of ingested caffeic acid are absorbed by the monocarboxylic acid transporter (MCT) in intestinal Caco-2 cell monolayers. (15479001)
2004
33
A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation. (15182056)
2004
34
Expression of Fas antigen and Fas ligand in bronchoalveolar lavage from silicosis patients. (14514471)
2003
35
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. (12482565)
2003
36
The expansion of CD4+CD28- T cells in patients with chronic kidney graft rejection. (14697933)
2003
37
Modulation of vascular inflammation by PPARs. (12792672)
2003
38
Breast cancer metastasis to bone: it is not all about PTHrP. (14600591)
2003
39
A randomized double-blind study of caspofungin versus fluconazole for the treatment of esophageal candidiasis. (12361815)
2002
40
Differential expression of NGF receptors in human thymic epithelial tumors. (10483585)
1999
41
Leukemia inhibitory factor, glial cell line-derived neurotrophic factor, and their receptor expressions following muscle crush injury. (10514237)
1999
42
An MboI two-allele polymorphism may implicate the human renin gene in primary hypertension. (9786608)
1998
43
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations. (9686365)
1998
44
Different expression patterns of MMP-2 and MMP-9 in breast cancer. (9625836)
1998
45
Identification of a SPH element in the distal region of a human U6 small nuclear RNA gene promoter and characterization of the SPH binding factor in HeLa cell extracts. (8979085)
1996
46
GAD antibodies in NIDDM. Ten-year follow-up from the diagnosis. (8722051)
1995
47
The prognostic significance of c-erbB-2 and p53 protein expressions in gastric carcinoma--a multivariate analysis of prognostic factors. (7993593)
1994
48
Endogenous antigen presentation by autoantigen-transfected Epstein-Barr virus-lymphoblastoid cells. I. Generation of human thyroid peroxidase-reactive T cells and their T cell receptor repertoire. (7682574)
1993
49
Panhypopituitarism, lupus erythematosus and hallucinosis. (13009999)
1952
50
True unicornuate uterus and total absence of left broad ligament, round ligament, salpinx, ovary, kidney and ureter. (20294612)
1947

Variations for Aniridia

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UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

67 (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_003816
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704
16PAX6p.Val126AspVAR_008705
17PAX6p.Arg208GlnVAR_008706
18PAX6p.Ser353AlaVAR_008707
19PAX6p.Gln422ArgVAR_008708
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866
28PAX6p.Gly395ArgVAR_067698

Clinvar genetic disease variations for Aniridia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ELP4NM_019040.4(ELP4): c.1143+14176C> Asingle nucleotide variantPathogenicrs606231388GRCh38Chr 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
4PAX6PAX6, 2-BP INSinsertionPathogenic
5PAX6PAX6, EXON G DELdeletionPathogenic
6PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
7PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
8PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
9PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
11PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
12PAX6NM_001604.5(PAX6): c.1075-2A> Gsingle nucleotide variantPathogenicrs794726661GRCh38Chr 11, 31790862: 31790862
13PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
14PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
15PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
16PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281
17PAX6NM_000280.4(PAX6): c.357+1G> Asingle nucleotide variantPathogenicrs398123295GRCh37Chr 11, 31823108: 31823108
18PAX6NM_000280.4(PAX6): c.46delG (p.Val16Serfs)deletionPathogenicrs398123296GRCh37Chr 11, 31824347: 31824347

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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Pathways related to Aniridia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0LGR4, OTX2, PAX4, PAX6, WT1

GO Terms for genes affiliated with Aniridia

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of neural precursor cell proliferationGO:200017810.6NR2E1, PAX6
2collagen fibril organizationGO:003019910.6CYP1B1, FOXC1
3midbrain developmentGO:003090110.4OTX2, PITX3
4lens development in camera-type eyeGO:000208810.3FOXE3, PAX6
5eye developmentGO:000165410.3FOXC1, FOXE3, PAX6
6kidney developmentGO:000182210.1CAT, FOXC1, WT1
7response to vitamin AGO:003318910.1CAT, PITX2
8camera-type eye developmentGO:004301010.1FOXC1, FOXE3, PITX2, WT1
9retina development in camera-type eyeGO:006004110.1NR2E1, PAX4, PAX6
10visual perceptionGO:00076019.6CYP1B1, NR2E1, PAX6
11transcription from RNA polymerase II promoterGO:00063669.3FOXC1, FOXE3, NR2E1, PAX6, PITX2, PITX3
12negative regulation of apoptotic processGO:00430669.1CAT, FOXE3, NR2E1, PAX4, WT1
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.7FOXC1, NR2E1, OTX2, PAX6, PITX2, PITX3
14positive regulation of transcription, DNA-templatedGO:00458938.4FOXC1, LGR4, OTX2, PAX3, PAX6, PITX2
15regulation of transcription, DNA-templatedGO:00063558.1FOXC1, FOXE3, IGF2, NR2E1, OTX2, PAX3

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.9FOXC1, PAX6, WT1

Sources for Aniridia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet