MCID: ANR002
MIFTS: 66

Aniridia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

MalaCards integrated aliases 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 1 71 29
Aniridia Type Ii 71
Aplasia of Iris 12
Absent Iris 25
Irideremia 25
An2 71
An1 71
an 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
aniridia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



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 foveal hypoplasia 1 and anterior segment dysgenesis 2, multiple subtypes, and has symptoms including visual impairment, nystagmus and strabismus. 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 drugs Chlorpromazine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are cellular and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

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 most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). (106210)

Wikipedia : 72 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 2 Aniridia 3

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

(show top 50) (show all 139)
id Related Disease Score Top Affiliating Genes
1 foveal hypoplasia 1 32.0 CYP1B1 PAX6
2 anterior segment dysgenesis 2, multiple subtypes 32.0 FOXE3 PITX3
3 anterior segment dysgenesis 5, multiple subtypes 23.5 CAT CYP1B1 ELP4 FOXC1 FOXE3 KRT12
4 aniridia 2 12.2
5 aniridia 3 12.0
6 aniridia and absent patella 12.0
7 aniridia - ptosis - intellectual disability - familial obesity 12.0
8 hair-an syndrome 12.0
9 aniridia renal agenesis psychomotor retardation 12.0
10 wagr syndrome 11.9
11 gillespie syndrome 11.9
12 isolated aniridia 11.9
13 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.9
14 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.8
15 sickle cell disease associated with an other hemoglobin anomaly 11.7
16 silver-russell syndrome due to an imprinting defect of 11p15 11.7
17 polydactyly of an index finger, unilateral 11.7
18 polydactyly of an index finger, bilateral 11.7
19 hemophagocytic syndrome associated with an infection 11.7
20 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.7
21 acute lymphoblastic leukemia congenital sporadic aniridia 11.7
22 aniridia-intellectual disability syndrome 11.7
23 acanthosis nigricans 11.4
24 acute necrotizing encephalopathy 11.3
25 polydactyly, preaxial iii 11.2
26 encephalopathy, acute, infection-induced, 4 11.1
27 alopecia, neurologic defects, and endocrinopathy syndrome 11.0
28 anterior segment dysgenesis 4 10.8
29 anterior segment dysgenesis 3, multiple subtypes 10.8
30 anterior segment dysgenesis 1, multiple subtypes 10.8
31 anterior segment dysgenesis 6, multiple subtypes 10.8
32 ataxia neuropathy spectrum 10.7
33 immunodeficiency due to a classical component pathway complement deficiency 10.7
34 morel's ear 10.7
35 walker dyson syndrome 10.7
36 zazam sheriff phillips syndrome 10.7
37 aneurysm 10.7
38 axenfeld-rieger syndrome, type 1 10.7
39 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 10.7
40 anterior segment dysgenesis 8 10.7
41 wilms tumor susceptibility-5 10.7
42 anterior segment dysgenesis 7, with sclerocornea 10.7
43 hypogonadotropic hypogonadism 24 without anosmia 10.7 ELP4 PAX6
44 leukemia 10.7
45 breast cancer 10.7
46 larsen-like syndrome 10.6 FOXC1 PITX2
47 hepatitis 10.6
48 meningitis 10.6
49 myocardial infarction 10.6
50 asthma 10.6

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to Aniridia

Symptoms & Phenotypes for Aniridia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
glaucoma
cataract
decreased vision
corneal clouding
aniridia
more
Head And Neck- Nose:
reduced olfaction

Neurologic- Central Nervous System:
hypoplastic corpus callosum
hypoplastic or absent anterior commissure
absent pineal gland (in some patients)
hypoplastic or absent olfactory bulb (rare)
polymicrogyria (rare)


Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 hallmark (90%) HP:0000505
2 nystagmus 32 hallmark (90%) HP:0000639
3 strabismus 32 frequent (33%) HP:0000486
4 umbilical hernia 32 occasional (7.5%) HP:0001537
5 ptosis 32 frequent (33%) HP:0000508
6 glaucoma 32 frequent (33%) HP:0000501
7 global developmental delay 32 occasional (7.5%) HP:0001263
8 microcornea 32 occasional (7.5%) HP:0000482
9 intellectual disability 32 occasional (7.5%) HP:0001249
10 cataract 32 HP:0000518
11 keratoconus 32 occasional (7.5%) HP:0000563
12 photophobia 32 frequent (33%) HP:0000613
13 optic nerve hypoplasia 32 frequent (33%) HP:0000609
14 macular hypoplasia 32 frequent (33%) HP:0001104
15 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
16 ectopia lentis 32 frequent (33%) HP:0001083
17 aniridia 32 HP:0000526
18 optic nerve coloboma 32 occasional (7.5%) HP:0000588
19 keratoconjunctivitis sicca 32 frequent (33%) HP:0001097
20 short palpebral fissure 32 frequent (33%) HP:0012745
21 corneal neovascularization 32 frequent (33%) HP:0011496
22 opacification of the corneal stroma 32 frequent (33%) HP:0007759
23 corneal erosion 32 frequent (33%) HP:0200020
24 aplasia/hypoplasia of the iris 32 hallmark (90%) HP:0008053
25 abnormality of the sense of smell 32 occasional (7.5%) HP:0004408
26 abnormality of the genital system 32 occasional (7.5%) HP:0000078
27 iris hypopigmentation 32 occasional (7.5%) HP:0007730
28 aplasia/hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0007370
29 abnormality of the hypothalamus-pituitary axis 32 occasional (7.5%) HP:0000864
30 hypoplasia of the fovea 32 HP:0007750
31 macular hypopigmentation 32 frequent (33%) HP:0007988
32 abnormality of the dentition 32 occasional (7.5%) HP:0000164

MGI Mouse Phenotypes related to Aniridia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 CAT FOXC1 LGR4 NR2E1 OTX2 PAX6
2 homeostasis/metabolism MP:0005376 10.11 CAT CYP1B1 FOXC1 LGR4 OTX2 PAX4
3 growth/size/body region MP:0005378 10.1 WT1 FOXC1 LGR4 NR2E1 OTX2 PAX4
4 endocrine/exocrine gland MP:0005379 10.09 FOXC1 LGR4 OTX2 PAX4 PAX6 PDX1
5 normal MP:0002873 9.91 PAX4 PAX6 PDX1 PITX2 WT1 FOXC1
6 liver/biliary system MP:0005370 9.8 FOXC1 LGR4 PDX1 PITX2 PITX3 WT1
7 reproductive system MP:0005389 9.56 FOXC1 LGR4 NR2E1 OTX2 PAX6 PITX2
8 pigmentation MP:0001186 9.55 FOXC1 OTX2 PAX6 PITX2 PITX3
9 vision/eye MP:0005391 9.28 CYP1B1 FOXC1 KRT12 LGR4 NR2E1 OTX2

Drugs & Therapeutics for Aniridia

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

(show top 50) (show all 78)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorpromazine Approved, Vet_approved Phase 4 50-53-3 2726
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Carbon monoxide Approved Phase 4 630-08-0 281
5
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
6
Nicotine Approved Phase 4 54-11-5 942 89594
7
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
8 Vaccines Phase 4
9 Central Nervous System Depressants Phase 4
10 Gastrointestinal Agents Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Antimetabolites Phase 4,Phase 2
13 Antidepressive Agents Phase 4
14 Antiemetics Phase 4
15 Antimanic Agents Phase 4
16 Antipsychotic Agents Phase 4
17 Autonomic Agents Phase 4
18 Dopamine Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Lithium carbonate Phase 4 554-13-2
21 Neurotransmitter Agents Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23 Psychotropic Drugs Phase 4
24
Serotonin Phase 4 50-67-9 5202
25 Serotonin Agents Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Tranquilizing Agents Phase 4
28
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
29
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
30
Tamoxifen Approved Phase 3 10540-29-1 2733526
31
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
32
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
33
Doxil Approved June 1999 Phase 3 31703
34 Hormones Phase 3
35 Albumin-Bound Paclitaxel Phase 3
36 Anti-Bacterial Agents Phase 3
37 Antibiotics, Antitubercular Phase 3
38 Antimitotic Agents Phase 3,Phase 2,Phase 1
39 Antineoplastic Agents, Hormonal Phase 3
40 Antineoplastic Agents, Phytogenic Phase 3
41 Bone Density Conservation Agents Phase 3
42 Estrogen Antagonists Phase 3
43 Estrogen Receptor Modulators Phase 3
44 Estrogens Phase 3
45 Hormone Antagonists Phase 3
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
47 Selective Estrogen Receptor Modulators Phase 3
48 taxane Phase 3
49 Topoisomerase Inhibitors Phase 3
50
s 1 (combination) Phase 3

Interventional clinical trials:

(show all 30)

id Name Status NCT ID Phase Drugs
1 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
2 Malnutrition in Gastroenterology Patients Completed NCT00168935 Phase 4 Fresubin protein energy Drink (CAVE! nutritional intervention)
3 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Recruiting NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
4 Smartphone App and CO Self-monitoring for Smoking Cessation Not yet recruiting NCT02840513 Phase 4
5 Physical Activity and Breast Cancer Risk in Postmenopausal Women:the SHAPE Study Completed NCT00359060 Phase 3
6 Chemotherapy vs Hormonal Treatment in Platinum-resistant Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3 Tamoxifen;Chemotherapy
7 Study of S-1, S-1/CDDP, and 5-FU/CDDP for Advanced Gastric Cancer Completed NCT00202969 Phase 3 S-1;S-1 plus CDDP;5-FU plus CDDP
8 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
9 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
10 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
11 Study of Ataluren in Patients With Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
12 Dose Escalation, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
13 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
14 Positive Angle Kappa Completed NCT01644552
15 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
16 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
17 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
18 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176
19 Analgesic Effect of Ropivacaine Plus Fentanyl vs Ropivacaine for Continuous 3-in-1 FNB After Total Knee Arthroplasty Completed NCT02501863 Femoral nerve block with ropivacaine+fentanyl;Femoral nerve block with ropivacaine
20 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591
21 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
22 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188
23 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
24 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
25 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Recruiting NCT01860612
26 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Recruiting NCT02983123
27 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 Sleep and Survival in Colorectal Cancer Recruiting NCT03254836
29 Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete Aniridia Active, not recruiting NCT00812708
30 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Not yet recruiting NCT03137680

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

Anatomical Context for Aniridia

MalaCards organs/tissues related to Aniridia:

39
Eye, Kidney, Bone, Pituitary, Breast, Hypothalamus, Pineal

Publications for Aniridia

Articles related to Aniridia:

(show top 50) (show all 557)
id Title Authors Year
1
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. ( 28488383 )
2017
2
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. ( 27771509 )
2017
3
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. ( 28300742 )
2017
4
Diagnostic impact of anterior segment angiography of limbal stem cell insufficiency in PAX6 related aniridia. ( 28906020 )
2017
5
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. ( 28231309 )
2017
6
Molecular Analysis of Patients with Aniridia in Russian Federation Broadens the Spectrum of PAX6 Mutations. ( 28321846 )
2017
7
Clinical anatomy of the anterior chamber angle in congenital aniridia: And consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2017
8
Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia. ( 28510772 )
2017
9
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ( 28157223 )
2017
10
Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and inA vivo confocal microscopy. ( 28698011 )
2017
11
Congenital aniridia with cataract: case series. ( 28676040 )
2017
12
Topical bevacizumab treatment in aniridia. ( 28620705 )
2017
13
Iris reconstruction using artificial iris prosthesis for management of aniridia. ( 28574137 )
2017
14
The Genetics of Congenital Aniridia - A Guide for the Ophthalmologist. ( 28923585 )
2017
15
PAX6 aniridia syndrome: clinics, genetics, and therapeutics. ( 28598868 )
2017
16
Efficacy of Postnatal InA Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia. ( 28624217 )
2017
17
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia. ( 28760551 )
2017
18
Management of aniridia and iris defects: an update on iris prosthesis options. ( 26871656 )
2016
19
Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report. ( 27829389 )
2016
20
Large Pupils in Infancy. . .Suspected Aniridia. ( 26835993 )
2016
21
Prevention of Silicone Oil Migration and Baerveldt Tube Blockage in Retinal Detachment Surgery with Partial Aniridia. ( 27116526 )
2016
22
Assessment of PAX6 alleles in 66 families with aniridia. ( 26661695 )
2016
23
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. ( 26949363 )
2016
24
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. ( 27081561 )
2016
25
Clinical utility gene card for: Aniridia. ( 27381094 )
2016
26
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. ( 26849621 )
2016
27
Long-term results after artificial iris implantation in patients with aniridia. ( 26892143 )
2016
28
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. ( 27124303 )
2016
29
Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye. ( 26840167 )
2016
30
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. ( 27109391 )
2016
31
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
32
Congenital Aniridia and the Ocular Surface. ( 26738798 )
2016
33
Identification of a novel frameshift heterozygous deletion in exonA 8 of the PAX6 gene in a pedigree with aniridia. ( 27431685 )
2016
34
PAX6, brain structure and function in human adults: advanced MRI in aniridia. ( 27231702 )
2016
35
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. ( 27160090 )
2016
36
Transpupillary Argon Laser Cyclophotocoagulation in a Refractory Traumatic Glaucoma Patient with Aphakia and Aniridia. ( 27800256 )
2016
37
A nonsense PAX6 mutation in a family with congenital aniridia. ( 28018434 )
2016
38
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. ( 25724657 )
2015
39
A rare PAX6 mutation in a Chinese family with congenital aniridia. ( 26535646 )
2015
40
A novel PAX6 deletion in a Chinese family with congenital aniridia. ( 25746674 )
2015
41
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
42
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated. ( 25621140 )
2015
43
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. ( 25687215 )
2015
44
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. ( 25678763 )
2015
45
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. ( 26394807 )
2015
46
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. ( 26451366 )
2015
47
Phacoemulsification with implantation of Morcher aniridia capsular rings for postoperative atonic pupil after iridencleisis--case report. ( 26349153 )
2015
48
A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. ( 25628759 )
2015
49
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. ( 25696017 )
2015
50
Keratopathy, cataract, and dry eye in a survey of aniridia subjects. ( 25709391 )
2015

Variations for Aniridia

UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

71 (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 top 50) (show all 82)
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 rs1131692318 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 GRCh37 Chromosome 4, 111774551: 115284551
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 GRCh37 Chromosome 11, 31242424: 31957424
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.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335
33 PAX6 NM_000280.4(PAX6): c.371delA (p.Asn124Thrfs) deletion Pathogenic rs886041221 GRCh37 Chromosome 11, 31822391: 31822391
34 PAX6 NM_000280.4(PAX6): c.358delG (p.Val120Cysfs) deletion Pathogenic rs886042838 GRCh37 Chromosome 11, 31822404: 31822404
35 PAX6 NM_000280.4(PAX6): c.482delG (p.Gly161Valfs) deletion Pathogenic rs886043350 GRCh37 Chromosome 11, 31822280: 31822280
36 PAX6 NM_000280.4(PAX6): c.52G> C (p.Gly18Arg) single nucleotide variant Likely pathogenic rs886044289 GRCh37 Chromosome 11, 31824341: 31824341
37 PAX6 NM_000280.4(PAX6): c.109dupG (p.Ala37Glyfs) duplication Pathogenic rs1057517781 GRCh37 Chromosome 11, 31824284: 31824284
38 DCDC1; DNAJC24; ELP4; IMMP1L GRCh37/hg19 11p13(chr11: 31147306-31714853)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 31147306: 31714853
39 DCDC1; DNAJC24; ELP4; IMMP1L GRCh37/hg19 11p13(chr11: 31186493-31698208)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 31186493: 31698208
40 PAX6 GRCh37/hg19 11p13(chr11: 31820789-31824052)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 31820789: 31824052
41 ELP4; PAX6 GRCh37/hg19 11p13(chr11: 31760458-31823847)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 31760458: 31823847
42 subset of 47 genes:PAX6 GRCh37/hg19 11p15.1-13(chr11: 18536224-31923308)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 18536224: 31923308
43 DCDC1; DNAJC24; ELP4; IMMP1L GRCh37/hg19 11p13(chr11: 31083877-31704548)x1 copy number loss Pathogenic GRCh37 Chromosome 11, 31083877: 31704548
44 PAX6 NM_000280.4(PAX6): c.1183+2T> C single nucleotide variant Pathogenic rs1131692319 GRCh38 Chromosome 11, 31790708: 31790708
45 PAX6 NM_000280.4(PAX6): c.1183G> T (p.Gly395Ter) single nucleotide variant Pathogenic rs1131692318 GRCh37 Chromosome 11, 31812258: 31812258
46 PAX6 NM_000280.4(PAX6): c.1047_1050delCCAG (p.Ser349Argfs) deletion Pathogenic rs1131692317 GRCh38 Chromosome 11, 31790843: 31790846
47 PAX6 NM_000280.4(PAX6): c.1032+6T> G single nucleotide variant Likely pathogenic rs1131692316 GRCh38 Chromosome 11, 31793432: 31793432
48 PAX6 NM_000280.4(PAX6): c.879delC (p.Ser294Valfs) deletion Pathogenic rs1131692315 GRCh37 Chromosome 11, 31815237: 31815237
49 PAX6 NM_000280.4(PAX6): c.794G> A (p.Trp265Ter) single nucleotide variant Pathogenic rs1131692314 GRCh38 Chromosome 11, 31793774: 31793774
50 PAX6 NM_000280.4(PAX6): c.792dup (p.Trp265Metfs) duplication Pathogenic rs1131692313 GRCh37 Chromosome 11, 31815324: 31815324

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 33)
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 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.95 FOXC1 NR2E1 PAX4 PDX1 WT1
3 brain development GO:0007420 9.91 FOXC1 NR2E1 PAX6 PITX2
4 regulation of gene expression GO:0010468 9.88 PAX6 PDX1 PITX3 TRIM44
5 visual perception GO:0007601 9.86 CYP1B1 KRT12 NR2E1 PAX6
6 kidney development GO:0001822 9.8 CAT FOXC1 WT1
7 retina development in camera-type eye GO:0060041 9.76 NR2E1 PAX4 PAX6
8 positive regulation of transcription, DNA-templated GO:0045893 9.76 FOXC1 LGR4 OTX2 PAX6 PDX1 PITX2
9 ureteric bud development GO:0001657 9.71 CAT FOXC1 WT1
10 lens development in camera-type eye GO:0002088 9.7 FOXE3 PAX6 PITX3
11 eye development GO:0001654 9.69 FOXC1 FOXE3 PAX6
12 pancreas development GO:0031016 9.66 PAX4 PDX1
13 endocrine pancreas development GO:0031018 9.65 PAX4 PDX1
14 dopaminergic neuron differentiation GO:0071542 9.65 OTX2 PITX3
15 response to vitamin A GO:0033189 9.65 CAT PITX2
16 positive regulation of DNA binding GO:0043388 9.65 FOXC1 PDX1 PITX2
17 animal organ morphogenesis GO:0009887 9.65 PAX4 PAX6 PDX1 PITX2 PITX3
18 negative regulation of neurogenesis GO:0050768 9.64 PAX6 PITX3
19 male genitalia development GO:0030539 9.64 LGR4 WT1
20 response to fatty acid GO:0070542 9.63 CAT PDX1
21 negative regulation of neural precursor cell proliferation GO:2000178 9.62 NR2E1 PAX6
22 type B pancreatic cell differentiation GO:0003309 9.61 PAX6 PDX1
23 cornea development in camera-type eye GO:0061303 9.6 FOXE3 PAX6
24 lacrimal gland development GO:0032808 9.57 FOXC1 PAX6
25 transcription from RNA polymerase II promoter GO:0006366 9.56 FOXC1 FOXE3 OTX2 PAX6 PDX1 PITX2
26 iris morphogenesis GO:0061072 9.5 FOXE3 PAX6 PITX2
27 trabecular meshwork development GO:0002930 9.46 CYP1B1 FOXE3
28 camera-type eye development GO:0043010 9.1 FOXC1 FOXE3 NR2E1 PAX6 PITX2 WT1
29 transcription, DNA-templated GO:0006351 10.24 ELP4 FOXC1 FOXE3 NR2E1 PAX4 PAX6
30 regulation of transcription, DNA-templated GO:0006355 10.11 ELP4 FOXC1 FOXE3 NR2E1 OTX2 PAX4
31 multicellular organism development GO:0007275 10.03 LGR4 NR2E1 OTX2 PAX4 PAX6 PDX1
32 negative regulation of apoptotic process GO:0043066 10.02 CAT FOXE3 NR2E1 PAX4 WT1
33 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.01 FOXC1 NR2E1 OTX2 PAX6 PDX1 PITX2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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