AN1
MCID: ANR002
MIFTS: 64

Aniridia (AN1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

Aliases & Descriptions for Aniridia:

Name: Aniridia 54 12 23 50 24 25 29 13 52 42 14
Cataract with Late-Onset Corneal Dystrophy 54 29
Congenital Aniridia 25 29
Aniridia Type Ii 66 29
Aniridia 1 66 29
Aplasia of Iris 12
Absent Iris 25
Irideremia 25
An2 66
An1 66
an 66

Characteristics:

HPO:

32
aniridia:
Inheritance autosomal dominant inheritance


HPO:

32
Penetrance Penetrance is 100%...

Classifications:



External Ids:

OMIM 54 106210
Disease Ontology 12 DOID:12271
ICD10 33 Q13.1
ICD9CM 35 743.45
MeSH 42 D015783
NCIt 47 C84563
SNOMED-CT 64 204161008 69278003
MedGen 40 C0003076
UMLS 69 C0003076

Summaries for Aniridia

NIH Rare Diseases : 50 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 photophobia, ptosis and nystagmus. An important gene associated with Aniridia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Regulation of beta-cell development. The drug Hemostatics has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and pituitary, and related phenotypes are cellular and homeostasis/metabolism

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

UniProtKB/Swiss-Prot : 66 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: NBK1360

Related Diseases for Aniridia

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)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 31.9 CYP1B1 FOXC1 PAX6
2 aphakia, congenital primary 30.8 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 aniridia 3 12.0
4 hair-an syndrome 12.0
5 wagr syndrome 11.9
6 isolated aniridia 11.9
7 gillespie syndrome 11.9
8 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.9
9 aniridia and absent patella 11.8
10 aniridia - ptosis - intellectual disability - familial obesity 11.8
11 aniridia renal agenesis psychomotor retardation 11.8
12 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.8
13 hemophagocytic syndrome associated with an infection 11.7
14 sickle cell disease associated with an other hemoglobin anomaly 11.7
15 silver-russell syndrome due to an imprinting defect of 11p15 11.7
16 polydactyly of an index finger, unilateral 11.7
17 polydactyly of an index finger, bilateral 11.7
18 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.7
19 acute lymphoblastic leukemia congenital sporadic aniridia 11.7
20 aniridia-intellectual disability syndrome 11.7
21 acanthosis nigricans 11.4
22 acute necrotizing encephalopathy 11.1
23 encephalopathy, acute, infection-induced, 4 11.1
24 achromatopsia-4 11.1
25 alopecia, neurologic defects, and endocrinopathy syndrome 11.0
26 polydactyly, preaxial iii 10.9
27 aneurysm 10.7
28 anterior segment dysgenesis 8 10.7
29 axenfeld-rieger syndrome, type 1 10.7
30 iridogoniodysgenesis, type 2 10.7
31 iridogoniodysgenesis, type 1 10.7
32 anterior segment mesenchymal dysgenesis 10.7
33 foveal hypoplasia 1 10.7
34 corneal opacification and other ocular anomalies 10.7
35 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 10.7
36 ataxia neuropathy spectrum 10.7
37 immunodeficiency due to a classical component pathway complement deficiency 10.7
38 bile duct cystadenocarcinoma 10.7
39 morel's ear 10.7
40 walker dyson syndrome 10.7
41 zazam sheriff phillips syndrome 10.7
42 wagro syndrome 10.7
43 leukemia 10.7
44 aortic aneurysm 10.6
45 hepatitis 10.6
46 meningitis 10.6
47 breast cancer 10.6
48 myocardial infarction 10.6
49 asthma 10.6
50 rheumatoid arthritis 10.6

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to Aniridia

Symptoms & Phenotypes for Aniridia

Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 cataract 32 HP:0000518
6 global developmental delay 32 HP:0001263
7 abnormality of the teeth 32 HP:0000164
8 umbilical hernia 32 HP:0001537
9 sensorineural hearing impairment 32 HP:0000407
10 visual impairment 32 HP:0000505
11 opacification of the corneal stroma 32 HP:0007759
12 strabismus 32 HP:0000486
13 corneal erosion 32 HP:0200020
14 optic nerve hypoplasia 32 HP:0000609
15 keratoconjunctivitis sicca 32 HP:0001097
16 corneal neovascularization 32 HP:0011496
17 glaucoma 32 HP:0000501
18 ectopia lentis 32 HP:0001083
19 aplasia/hypoplasia of the iris 32 HP:0008053
20 abnormality of the sense of smell 32 HP:0004408
21 abnormality of the genital system 32 HP:0000078
22 microcornea 32 HP:0000482
23 optic nerve coloboma 32 HP:0000588
24 keratoconus 32 HP:0000563
25 iris hypopigmentation 32 HP:0007730
26 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
27 aniridia 32 HP:0000526
28 abnormality of the hypothalamus-pituitary axis 32 HP:0000864
29 hypoplasia of the fovea 32 HP:0007750
30 short palpebral fissure 32 HP:0012745
31 macular hypoplasia 32 HP:0001104
32 macular hypopigmentation 32 HP:0007988

MGI Mouse Phenotypes related to Aniridia:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 CAT FOXC1 IGF2 LGR4 NR2E1 OTX2
2 homeostasis/metabolism MP:0005376 10.23 CAT CYP1B1 FOXC1 IGF2 LGR4 OTX2
3 growth/size/body region MP:0005378 10.22 LGR4 NR2E1 OTX2 PAX4 PAX6 PDX1
4 cardiovascular system MP:0005385 10.2 FOXC1 IGF2 LGR4 NR2E1 OTX2 PAX6
5 endocrine/exocrine gland MP:0005379 10.19 WT1 FOXC1 IGF2 LGR4 OTX2 PAX4
6 digestive/alimentary MP:0005381 10.07 PITX2 FOXC1 IGF2 LGR4 OTX2 PAX6
7 embryo MP:0005380 10.05 FOXC1 IGF2 LGR4 OTX2 PAX6 PITX2
8 liver/biliary system MP:0005370 9.98 FOXC1 IGF2 LGR4 PDX1 PITX2 PITX3
9 normal MP:0002873 9.97 FOXC1 KRT12 LUZP2 OTX2 PAX4 PAX6
10 muscle MP:0005369 9.95 FOXC1 IGF2 OTX2 PAX6 PDX1 PITX2
11 no phenotypic analysis MP:0003012 9.91 IGF2 KRT12 LGR4 PDX1 PITX2 PITX3
12 reproductive system MP:0005389 9.81 PITX3 WT1 FOXC1 IGF2 LGR4 NR2E1
13 pigmentation MP:0001186 9.65 FOXC1 OTX2 PAX6 PITX2 PITX3
14 respiratory system MP:0005388 9.5 FOXC1 IGF2 OTX2 PAX6 PITX2 PITX3
15 vision/eye MP:0005391 9.32 CYP1B1 FOXC1 IGF2 KRT12 LGR4 NR2E1

Drugs & Therapeutics for Aniridia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
2 Study of Ataluren in Patients With Aniridia Recruiting NCT02647359 Phase 2
3 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
4 Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete Aniridia Active, not recruiting NCT00812708 Phase 1
5 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
6 Positive Angle Kappa Completed NCT01644552
7 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
8 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
9 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
10 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
11 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Recruiting NCT01860612
12 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
13 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176

Search NIH Clinical Center for Aniridia

Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia

Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia 1 29
2 Cataract with Late-Onset Corneal Dystrophy 29
3 Aniridia 29 24 PAX6
4 Congenital Aniridia 29
5 Aniridia 2 29

Anatomical Context for Aniridia

MalaCards organs/tissues related to Aniridia:

39
Eye, Kidney, Pituitary, Hypothalamus, Endothelial, Brain, Bone

Publications for Aniridia

Articles related to Aniridia:

(show top 50) (show all 547)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

66 (show all 28)
id Symbol AA change Variation ID SNP ID
1 PAX6 p.Asn17Ser VAR_003808
2 PAX6 p.Gly18Trp VAR_003809
3 PAX6 p.Ile29Val VAR_003811
4 PAX6 p.Arg44Gln VAR_003812
5 PAX6 p.Ile87Arg VAR_003813
6 PAX6 p.Gln178His VAR_003815
7 PAX6 p.Arg208Trp VAR_003816 rs757259413
8 PAX6 p.Ile29Ser VAR_008694
9 PAX6 p.Ala33Pro VAR_008695
10 PAX6 p.Ile42Ser VAR_008697
11 PAX6 p.Ser43Pro VAR_008698
12 PAX6 p.Val53Leu VAR_008699
13 PAX6 p.Thr63Pro VAR_008701
14 PAX6 p.Ala79Glu VAR_008703
15 PAX6 p.Ser119Arg VAR_008704 rs121907928
16 PAX6 p.Val126Asp VAR_008705 rs121907919
17 PAX6 p.Arg208Gln VAR_008706 rs749244084
18 PAX6 p.Ser353Ala VAR_008707 rs373661718
19 PAX6 p.Gln422Arg VAR_008708 rs780356070
20 PAX6 p.Pro375Gln VAR_015066 rs200015827
21 PAX6 p.Arg19Pro VAR_047860
22 PAX6 p.Leu46Arg VAR_047861
23 PAX6 p.Cys52Arg VAR_047862
24 PAX6 p.Ile56Thr VAR_047863
25 PAX6 p.Gly73Asp VAR_047864
26 PAX6 p.Ile87Lys VAR_047865
27 PAX6 p.Arg242Thr VAR_047866 rs121907927
28 PAX6 p.Gly395Arg VAR_067698

ClinVar genetic disease variations for Aniridia:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 PAX6, 2-BP INS insertion Pathogenic
2 PAX6 PAX6, EXON G DEL deletion Pathogenic
3 PAX6 NM_000280.4(PAX6): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121907912 GRCh37 Chromosome 11, 31822356: 31822356
4 PAX6 NM_000280.4(PAX6): c.76C> G (p.Arg26Gly) single nucleotide variant Pathogenic rs121907913 GRCh37 Chromosome 11, 31824317: 31824317
5 PAX6 NM_000280.4(PAX6): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs121907914 GRCh37 Chromosome 11, 31823159: 31823159
6 PAX6 NG_008679.1: g.32252G> C single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31790710: 31790860
7 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
8 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
9 PAX6 NM_000280.4(PAX6): c.1033-2A> G single nucleotide variant Pathogenic rs794726661 GRCh38 Chromosome 11, 31790862: 31790862
10 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
11 PAX6 NM_000280.4(PAX6): c.725G> C (p.Arg242Thr) single nucleotide variant Pathogenic rs121907927 GRCh37 Chromosome 11, 31815620: 31815620
12 PAX6 NM_000280.4(PAX6): c.357C> A (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh37 Chromosome 11, 31823109: 31823109
13 PAX6 NM_000280.4(PAX6): c.-129+2T> A single nucleotide variant Pathogenic rs878852979 GRCh38 Chromosome 11, 31810826: 31810826
14 PAX6 NM_000280.4(PAX6): c.771G> A (p.Trp257Ter) single nucleotide variant Pathogenic rs121907929 GRCh37 Chromosome 11, 31815345: 31815345
15 PAX6 NM_000280.4(PAX6): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs397514640 GRCh37 Chromosome 11, 31824281: 31824281
16 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh37 Chromosome 11, 31823108: 31823108
17 PAX6 NM_000280.4(PAX6): c.46delG (p.Val16Serfs) deletion Pathogenic rs398123296 GRCh37 Chromosome 11, 31824347: 31824347
18 ELP4 NM_019040.4(ELP4): c.1143+14176C> A single nucleotide variant Pathogenic rs606231388 GRCh38 Chromosome 11, 31664397: 31664397
19 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh37 Chromosome 11, 31815221: 31815222
20 PAX6 NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs) insertion Pathogenic rs797044642 GRCh37 Chromosome 11, 31811508: 31811509
21 covers 19 genes, none of which curated to show dosage sensitivity NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic NCBI36 Chromosome 4, 111994000: 115504000
22 FOXC1; GMDS NC_000006.10: g.1543591_1675085del131495 deletion Pathogenic NCBI36 Chromosome 6, 1543591: 1675085
23 ELP4; PAX6 NC_000011.10: g.31720147_31816290del96144 deletion Pathogenic NCBI36 Chromosome 11, 31698271: 31794414
24 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30874642_31654833del780192 deletion Pathogenic NCBI36 Chromosome 11, 30874642: 31654833
25 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30967000_31704000del737001 deletion Pathogenic NCBI36 Chromosome 11, 30967000: 31704000
26 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31108579_31649842del541264 deletion Pathogenic NCBI36 Chromosome 11, 31108579: 31649842
27 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31849000del650001 deletion Pathogenic GRCh37 Chromosome 11, 31242424: 31892424
28 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31914000del715001 deletion Pathogenic NCBI36 Chromosome 11, 31199000: 31914000
29 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31234395_31751815del517421 deletion Pathogenic NCBI36 Chromosome 11, 31234395: 31751815
30 DNAJC24; ELP4; IMMP1L NC_000011.8: g.31379000_31708000del329001 deletion Pathogenic NCBI36 Chromosome 11, 31379000: 31708000
31 PAX6 NC_000011.8: g.31779000_31933000del154001 deletion Pathogenic NCBI36 Chromosome 11, 31779000: 31933000
32 PAX6 NM_000280.4(PAX6): c.358delG (p.Val120Cysfs) deletion Pathogenic rs886042838 GRCh37 Chromosome 11, 31822404: 31822404
33 PAX6 NM_000280.4(PAX6): c.482delG (p.Gly161Valfs) deletion Pathogenic rs886043350 GRCh37 Chromosome 11, 31822280: 31822280
34 PAX6 NM_000280.4(PAX6): c.52G> C (p.Gly18Arg) single nucleotide variant Likely pathogenic rs886044289 GRCh37 Chromosome 11, 31824341: 31824341
35 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.9: g.(?_31147306)_(31714853_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 31147306: 31714853
36 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.9: g.(?_31186493)_(31698208_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 31186493: 31698208
37 PAX6 NC_000011.9: g.(?_31820789)_(31824052_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 31820789: 31824052
38 ELP4; PAX6 NC_000011.9: g.(?_31760458)_(31823847_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 31760458: 31823847
39 subset of 47 genes:PAX6 NC_000011.9: g.(?_18536224)_(31923308_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 18536224: 31923308
40 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.9: g.(?_31083877)_(31704548_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 31083877: 31704548

Copy number variations for Aniridia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 31786 11 31000000 36400000 Copy number PAX6 Aniridia syndrome
2 51321 11 125001547 125215177 Deletion PAX6 Aniridia syndrome
3 53570 11 31000000 36400000 Deletion WT1 Aniridia syndrome

Expression for Aniridia

Search GEO for disease gene expression data for Aniridia.

Pathways for Aniridia

GO Terms for Aniridia

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.97 ELP4 FOXE3 PAX6 PDX1 PITX2 WT1
2 brain development GO:0007420 9.9 FOXC1 NR2E1 PAX6 PITX2
3 regulation of gene expression GO:0010468 9.87 PAX6 PDX1 PITX3 TRIM44
4 visual perception GO:0007601 9.86 CYP1B1 KRT12 NR2E1 PAX6
5 kidney development GO:0001822 9.8 CAT FOXC1 WT1
6 retina development in camera-type eye GO:0060041 9.77 NR2E1 PAX4 PAX6
7 positive regulation of transcription, DNA-templated GO:0045893 9.76 FOXC1 LGR4 OTX2 PAX6 PDX1 PITX2
8 ureteric bud development GO:0001657 9.71 CAT FOXC1 WT1
9 lens development in camera-type eye GO:0002088 9.7 FOXE3 PAX6 PITX3
10 eye development GO:0001654 9.69 FOXC1 FOXE3 PAX6
11 endocrine pancreas development GO:0031018 9.65 PAX4 PDX1
12 dopaminergic neuron differentiation GO:0071542 9.65 OTX2 PITX3
13 positive regulation of DNA binding GO:0043388 9.65 FOXC1 PDX1 PITX2
14 animal organ morphogenesis GO:0009887 9.65 PAX4 PAX6 PDX1 PITX2 PITX3
15 male genitalia development GO:0030539 9.64 LGR4 WT1
16 response to vitamin A GO:0033189 9.64 CAT PITX2
17 negative regulation of neurogenesis GO:0050768 9.63 PAX6 PITX3
18 response to fatty acid GO:0070542 9.63 CAT PDX1
19 negative regulation of neural precursor cell proliferation GO:2000178 9.62 NR2E1 PAX6
20 type B pancreatic cell differentiation GO:0003309 9.58 PAX6 PDX1
21 cornea development in camera-type eye GO:0061303 9.58 FOXE3 PAX6
22 iris morphogenesis GO:0061072 9.58 FOXE3 PAX6 PITX2
23 transcription from RNA polymerase II promoter GO:0006366 9.56 FOXC1 FOXE3 OTX2 PAX6 PDX1 PITX2
24 lacrimal gland development GO:0032808 9.55 FOXC1 PAX6
25 trabecular meshwork development GO:0002930 9.46 CYP1B1 FOXE3
26 camera-type eye development GO:0043010 9.1 FOXC1 FOXE3 NR2E1 PAX6 PITX2 WT1
27 transcription, DNA-templated GO:0006351 10.26 ELP4 FOXC1 FOXE3 NR2E1 PAX4 PAX6
28 regulation of transcription, DNA-templated GO:0006355 10.1 ELP4 FOXC1 FOXE3 IGF2 NR2E1 OTX2
29 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.05 FOXC1 NR2E1 PAX4 PDX1 WT1
30 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.03 FOXC1 NR2E1 OTX2 PAX6 PDX1 PITX2
31 multicellular organism development GO:0007275 10.02 IGF2 LGR4 NR2E1 OTX2 PAX4 PAX6
32 negative regulation of apoptotic process GO:0043066 10.01 CAT FOXE3 NR2E1 PAX4 WT1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 FOXC1 FOXE3 NR2E1 OTX2 PAX4 PAX6
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.72 OTX2 PAX6 PDX1 PITX2 PITX3
3 transcription factor binding GO:0008134 9.71 FOXC1 PAX6 PDX1 PITX2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.67 FOXC1 FOXE3 PAX6 PITX2
5 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.63 NR2E1 OTX2 PAX6 PITX2 PITX3 WT1
6 transcription factor activity, sequence-specific DNA binding GO:0003700 9.61 FOXC1 FOXE3 NR2E1 OTX2 PAX6 PDX1
7 sequence-specific DNA binding GO:0043565 9.32 FOXC1 FOXE3 NR2E1 OTX2 PAX4 PAX6

Sources for Aniridia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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