AN1
MCID: ANR048
MIFTS: 65

Aniridia 1 (AN1)

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia 1

MalaCards integrated aliases for Aniridia 1:

Name: Aniridia 1 57 75 29 6
Aniridia 57 12 76 24 53 25 37 13 55 6 44 15
Congenital Aniridia 25 29 6
Cataract with Late-Onset Corneal Dystrophy 57 29
An1 57 75
an 57 75
Aniridia Ii, Formerly; An2, Formerly 57
Aniridia Ii, Formerly 57
Aniridia, Congenital 40
Aniridia Type Ii 75
Aplasia of Iris 12
An2, Formerly 57
Absent Iris 25
Irideremia 25
An2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
aniridia 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%...

Classifications:



Summaries for Aniridia 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Aniridia 1, also known as aniridia, is related to hemihyperplasia, isolated and waardenburg's syndrome. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Chlorpromazine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and breast, and related phenotypes are ptosis and nystagmus

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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).

Wikipedia : 76 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 1

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3

Diseases related to Aniridia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 9732)
# Related Disease Score Top Affiliating Genes
1 hemihyperplasia, isolated 31.4 IGF2 WT1
2 waardenburg's syndrome 31.1 KIR2DS4 PAX3 PAX6
3 axenfeld-rieger syndrome 31.1 FOXC1 OPTN PAX6 PITX2
4 persistent hyperplastic primary vitreous 31.0 FOXC1 PAX6 PITX2
5 craniofacial-deafness-hand syndrome 30.9 KIR2DS4 PAX3
6 anterior segment dysgenesis 4 30.9 FOXC1 PITX2
7 peters-plus syndrome 30.9 FOXC1 FOXE3 PAX6 PITX2
8 aniridia 2 30.8 ELP4 PAX6
9 glaucoma 3, primary congenital, a 30.8 FOXC1 OPTN PAX6 PITX2
10 axenfeld-rieger syndrome, type 3 30.8 FOXC1 PITX2
11 sclerocornea 30.6 FOXE3 OPTN
12 anterior segment dysgenesis 1 30.4 FOXE3 PAX6 PITX2
13 axenfeld-rieger syndrome, type 2 30.3 FOXC1 OPTN PITX2
14 wilms tumor 5 30.2 IGF2 PAX6 WT1
15 ewing sarcoma 30.1 FOXC1 IGF2 OPTN PAX3 PAX6 WT1
16 coloboma of macula 30.1 FOXE3 KIR2DS4 OPTN PAX6
17 anterior segment dysgenesis 30.0 FOXC1 FOXE3 PAX6 PITX2 SLC38A8
18 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.9 BDNF ELP4 FSHB IGF2 PAX6 WT1
19 cataract 29.9 ELP4 FOXE3 PAX6 PITX2
20 intestinal atresia 29.8 FOXC1 PAX6 PITX2
21 scleral staphyloma 29.3 OPTN PAX6
22 primary congenital glaucoma 29.1 FOXC1 OPTN PITX2
23 ritscher-schinzel syndrome 28.9 FOXC1 OPTN
24 juvenile glaucoma 28.7 FOXC1 OPTN PAX6 PITX2
25 hair-an syndrome 12.2
26 hemophagocytic syndrome associated with an infection 12.0
27 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.0
28 sickle cell disease associated with an other hemoglobin anomaly 11.9
29 silver-russell syndrome due to an imprinting defect of 11p15 11.9
30 blood group--ahonen 11.7
31 acanthosis nigricans 11.5
32 anorexia nervosa 11.4
33 acute necrotizing encephalopathy 11.4
34 encephalopathy, acute, infection-induced 4 11.3
35 schizophrenia 1 11.3
36 schizophrenia 11.3
37 polydactyly, preaxial iii 11.3
38 alopecia, neurologic defects, and endocrinopathy syndrome 11.2
39 schizophrenia 3 11.1
40 schizophrenia 7 11.1
41 schizophrenia 8 11.1
42 schizophrenia 15 11.0
43 schizophrenia 18 11.0
44 schizophrenia 19 11.0
45 aneurysm 10.8
46 isolated aniridia 10.8 FOXC1 PAX6
47 schizophrenia 5 10.8
48 schizophrenia 9 10.8
49 bile duct cystadenocarcinoma 10.8
50 morel's ear 10.8

Graphical network of the top 20 diseases related to Aniridia 1:



Diseases related to Aniridia 1

Symptoms & Phenotypes for Aniridia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
glaucoma
aniridia
decreased vision
peter's anomaly (congenital anomaly of the anterior segment)
more
Neurologic Central Nervous System:
hypoplastic or absent anterior commissure
hypoplastic corpus callosum
absent pineal gland (in some patients)
hypoplastic or absent olfactory bulb (rare)
polymicrogyria (rare)

Head And Neck Nose:
reduced olfaction


Clinical features from OMIM:

106210

Human phenotypes related to Aniridia 1:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 frequent (33%) HP:0000508
2 nystagmus 32 hallmark (90%) HP:0000639
3 intellectual disability 32 occasional (7.5%) HP:0001249
4 cataract 32 HP:0000518
5 global developmental delay 32 occasional (7.5%) HP:0001263
6 abnormality of the dentition 32 occasional (7.5%) HP:0000164
7 umbilical hernia 32 occasional (7.5%) HP:0001537
8 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
9 visual impairment 32 hallmark (90%) HP:0000505
10 photophobia 32 frequent (33%) HP:0000613
11 opacification of the corneal stroma 32 frequent (33%) HP:0007759
12 strabismus 32 frequent (33%) HP:0000486
13 corneal erosion 32 frequent (33%) HP:0200020
14 optic nerve hypoplasia 32 frequent (33%) HP:0000609
15 keratoconjunctivitis sicca 32 frequent (33%) HP:0001097
16 corneal neovascularization 32 frequent (33%) HP:0011496
17 glaucoma 32 frequent (33%) HP:0000501
18 ectopia lentis 32 frequent (33%) HP:0001083
19 aplasia/hypoplasia of the iris 32 hallmark (90%) HP:0008053
20 abnormality of the sense of smell 32 occasional (7.5%) HP:0004408
21 abnormality of the genital system 32 occasional (7.5%) HP:0000078
22 microcornea 32 occasional (7.5%) HP:0000482
23 optic nerve coloboma 32 occasional (7.5%) HP:0000588
24 polymicrogyria 32 occasional (7.5%) HP:0002126
25 keratoconus 32 occasional (7.5%) HP:0000563
26 iris hypopigmentation 32 occasional (7.5%) HP:0007730
27 aplasia/hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0007370
28 hypoplasia of the corpus callosum 32 HP:0002079
29 aniridia 32 HP:0000526
30 abnormality of the hypothalamus-pituitary axis 32 occasional (7.5%) HP:0000864
31 hypoplasia of the fovea 32 HP:0007750
32 short palpebral fissure 32 frequent (33%) HP:0012745
33 macular hypoplasia 32 frequent (33%) HP:0001104
34 macular hypopigmentation 32 frequent (33%) HP:0007988

MGI Mouse Phenotypes related to Aniridia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 BDNF FOXC1 FSHB IGF2 PAX3 PAX6
2 respiratory system MP:0005388 9.17 BDNF FOXC1 IGF2 PAX3 PAX6 PITX2

Drugs & Therapeutics for Aniridia 1

Drugs for Aniridia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorpromazine Approved, Investigational, 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, Investigational 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 Antidepressive Agents Phase 4
9 Antiemetics Phase 4
10 Antimanic Agents Phase 4,Phase 3
11 Antipsychotic Agents Phase 4
12 Autonomic Agents Phase 4
13 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
14 Dopamine Agents Phase 4
15 Dopamine Antagonists Phase 4
16 Gastrointestinal Agents Phase 4,Not Applicable
17 Lithium carbonate Phase 4 554-13-2
18 Neurotransmitter Agents Phase 4,Phase 3
19 Neurotransmitter Uptake Inhibitors Phase 4
20 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
21 Psychotropic Drugs Phase 4,Phase 3
22 Serotonin Agents Phase 4
23 Serotonin Uptake Inhibitors Phase 4
24 Tranquilizing Agents Phase 4,Phase 3
25 Vaccines Phase 4
26 Antimetabolites Phase 4,Phase 2
27
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
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
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
34
gamma-Aminobutyric acid Approved, Investigational Phase 3 56-12-2 119
35
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
36
Doxil Approved June 1999 Phase 3 31703
37 Hormones Phase 3
38 Albumin-Bound Paclitaxel Phase 3
39 Anti-Bacterial Agents Phase 3
40 Antibiotics, Antitubercular Phase 3
41 Antimitotic Agents Phase 3,Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 3
43 Antineoplastic Agents, Phytogenic Phase 3
44 Bone Density Conservation Agents Phase 3,Not Applicable
45 Estrogen Antagonists Phase 3
46 Estrogen Receptor Modulators Phase 3
47 Estrogens Phase 3
48 Hormone Antagonists Phase 3
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
50 Selective Estrogen Receptor Modulators Phase 3

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Unknown status NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
2 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
3 Malnutrition in Gastroenterology Patients Completed NCT00168935 Phase 4 Fresubin protein energy Drink (CAVE! nutritional intervention)
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 Pregabalin Treatment and Prevention Post-herpetic Neuralgia Not yet recruiting NCT03186443 Phase 3 Pregabalin;Gabapentin
9 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
10 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
11 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
12 Study of Ataluren in Patients With Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
13 Dose Escalation, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
14 Medication List in and Out of Hospital Unknown status NCT01288846
15 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
16 Positive Angle Kappa Completed NCT01644552
17 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
18 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
19 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
20 Analgesic Effect of Ropivacaine Plus Fentanyl vs Ropivacaine for Continuous 3-in-1 FNB After Total Knee Arthroplasty Completed NCT02501863 Not Applicable Femoral nerve block with ropivacaine+fentanyl;Femoral nerve block with ropivacaine
21 Effect of Travoprost 0.004% on Retinal Oximetry in Primary Open Angle Glaucoma Completed NCT01711177 Not Applicable placebo;travoprost
22 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591 Not Applicable
23 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
24 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
25 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188 Not Applicable
26 Glucose Metabolism in Different PCOS Phenotypes Completed NCT03204461
27 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560 Not Applicable
28 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
29 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Recruiting NCT02983123
30 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Recruiting NCT01860612 Not Applicable
31 Sleep and Survival in Colorectal Cancer Recruiting NCT03254836
32 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
33 Clinical Evaluation of Morcher Artificial Iris Diaphragms Active, not recruiting NCT00812708 Not Applicable
34 Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures Enrolling by invitation NCT03461978 Not Applicable
35 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Not yet recruiting NCT03137680 Not Applicable
36 A Randomized Controlled Trial of Nicotinamide Supplementation in Early Parkinson's Disease: the NOPARK Study Not yet recruiting NCT03568968 Not Applicable Placebo

Search NIH Clinical Center for Aniridia 1

Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia 1

Genetic tests related to Aniridia 1:

# Genetic test Affiliating Genes
1 Aniridia 1 29 ELP4 PAX6 WT1
2 Cataract with Late-Onset Corneal Dystrophy 29
3 Congenital Aniridia 29

Anatomical Context for Aniridia 1

MalaCards organs/tissues related to Aniridia 1:

41
Eye, Kidney, Breast, Pituitary, Pineal, Hypothalamus, Olfactory Bulb

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 94)
# Title Authors Year
1
Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy. ( 29133179 )
2018
2
Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy. ( 29101006 )
2018
3
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ( 28157223 )
2017
4
Clinical anatomy of the anterior chamber angle in congenital aniridia: And consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2017
5
The Genetics of Congenital Aniridia - A Guide for the Ophthalmologist. ( 28923585 )
2017
6
Congenital aniridia with cataract: case series. ( 28676040 )
2017
7
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. ( 28488383 )
2017
8
Congenital Aniridia and the Ocular Surface. ( 26738798 )
2016
9
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. ( 26949363 )
2016
10
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. ( 27160090 )
2016
11
A nonsense PAX6 mutation in a family with congenital aniridia. ( 28018434 )
2016
12
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. ( 26849621 )
2016
13
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
14
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. ( 27455012 )
2016
15
A rare PAX6 mutation in a Chinese family with congenital aniridia. ( 26535646 )
2015
16
Sutureless artificial iris after phacoemulsification in congenital aniridia. ( 25738840 )
2015
17
A novel PAX6 deletion in a Chinese family with congenital aniridia. ( 25746674 )
2015
18
The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia. ( 26648453 )
2015
19
Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors. ( 25435751 )
2014
20
Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis. ( 27355034 )
2014
21
Clinical Manifestations of Congenital Aniridia. ( 24369682 )
2014
22
Treatment of congenital aniridia associated with subluxated infantile cataract. ( 25195356 )
2014
23
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. ( 24737507 )
2014
24
Treatment of congenital aniridia associated with subluxated infantile cataract. ( 25568537 )
2014
25
Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia. ( 24618492 )
2014
26
A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. ( 25366758 )
2014
27
The Clinical Characterization and Surgical Correction of Blepharoptosis Associated With Congenital Aniridia. ( 24911534 )
2014
28
In vivo confocal microscopy of congenital aniridia-associated keratopathy. ( 23579408 )
2013
29
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia. ( 24266705 )
2013
30
Cataract development in Norwegian patients with congenital aniridia. ( 23826968 )
2013
31
Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia. ( 24061003 )
2013
32
[Identification of a novel PAX6 mutation in a family with congenital aniridia]. ( 24078574 )
2013
33
Three cases with unusual ophthalmic phenotypes of congenital aniridia. ( 23931477 )
2013
34
A novel PAX6 deletion in a Chinese family with congenital aniridia. ( 22550392 )
2012
35
Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia. ( 21691140 )
2012
36
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. ( 22393275 )
2012
37
Surgical and visual outcomes of the type I Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia. ( 22265154 )
2012
38
A novel PAX6 mutation in Chinese patients with severe congenital aniridia. ( 22621390 )
2012
39
Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency. ( 21376398 )
2011
40
Immunohistochemical expression of epithelial cell markers in corneas with congenital aniridia and ocular cicatrizing pemphigoid. ( 19558573 )
2011
41
Cataract surgery after keratolimbal allograft surgery in patients with congenital aniridia. ( 21420607 )
2011
42
Clinical features of Korean patients with congenital aniridia. ( 21052509 )
2010
43
Retinal detachment with giant oral dialysis in an eye with congenital aniridia. ( 20151290 )
2010
44
Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. ( 22553596 )
2010
45
Corneal involvement in congenital aniridia. ( 20567200 )
2010
46
[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. ( 19806578 )
2009
47
Genotype/phenotype association in Indian congenital aniridia. ( 19390808 )
2009
48
[R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia]. ( 19806579 )
2009
49
[Analysis of PAX6 gene in a Chinese family with congenital aniridia]. ( 20137456 )
2009
50
[Two neonates with congenital aniridia: the necessity of genetic investigation]. ( 18402324 )
2008

Variations for Aniridia 1

UniProtKB/Swiss-Prot genetic disease variations for Aniridia 1:

75 (show all 28)
# 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 1:

6
(show top 50) (show all 388)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.771G> A (p.Trp257Ter) single nucleotide variant Pathogenic rs121907929 GRCh38 Chromosome 11, 31793797: 31793797
2 PAX6 PAX6, 2-BP INS insertion Pathogenic
3 PAX6 PAX6, EXON G DEL deletion Pathogenic
4 PAX6 NM_000280.4(PAX6): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121907912 GRCh37 Chromosome 11, 31822356: 31822356
5 PAX6 NM_000280.4(PAX6): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121907912 GRCh38 Chromosome 11, 31800808: 31800808
6 PAX6 NM_000280.4(PAX6): c.76C> G (p.Arg26Gly) single nucleotide variant Pathogenic rs121907913 GRCh37 Chromosome 11, 31824317: 31824317
7 PAX6 NM_000280.4(PAX6): c.76C> G (p.Arg26Gly) single nucleotide variant Pathogenic rs121907913 GRCh38 Chromosome 11, 31802769: 31802769
8 PAX6 NM_000280.4(PAX6): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs121907914 GRCh37 Chromosome 11, 31823159: 31823159
9 PAX6 NM_000280.4(PAX6): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs121907914 GRCh38 Chromosome 11, 31801611: 31801611
10 PAX6 NG_008679.1: g.32252G> C single nucleotide variant Pathogenic rs1131692318 GRCh38 Chromosome 11, 31790710: 31790860
11 PAX6 NG_008679.1: g.32252G> C single nucleotide variant Pathogenic rs1131692318 GRCh37 Chromosome 11, 31812258: 31812258
12 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
13 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh38 Chromosome 11, 31794705: 31794705
14 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
15 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh38 Chromosome 11, 31794079: 31794079
16 PAX6 NM_000280.4(PAX6): c.1033-2A> G single nucleotide variant Pathogenic rs794726661 GRCh38 Chromosome 11, 31790862: 31790862
17 PAX6 NM_000280.4(PAX6): c.1033-2A> G single nucleotide variant Pathogenic rs794726661 GRCh37 Chromosome 11, 31812410: 31812410
18 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
19 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
20 PAX6 NM_000280.4(PAX6): c.725G> C (p.Arg242Thr) single nucleotide variant Pathogenic rs121907927 GRCh37 Chromosome 11, 31815620: 31815620
21 PAX6 NM_000280.4(PAX6): c.725G> C (p.Arg242Thr) single nucleotide variant Pathogenic rs121907927 GRCh38 Chromosome 11, 31794072: 31794072
22 PAX6 NM_000280.4(PAX6): c.357C> A (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh37 Chromosome 11, 31823109: 31823109
23 PAX6 NM_000280.4(PAX6): c.357C> A (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh38 Chromosome 11, 31801561: 31801561
24 PAX6 NM_000280.4(PAX6): c.-129+2T> A single nucleotide variant Pathogenic rs878852979 GRCh38 Chromosome 11, 31810826: 31810826
25 PAX6 NM_000280.4(PAX6): c.-129+2T> A single nucleotide variant Pathogenic rs878852979 GRCh37 Chromosome 11, 31832374: 31832374
26 PAX6 NM_000280.4(PAX6): c.771G> A (p.Trp257Ter) single nucleotide variant Pathogenic rs121907929 GRCh37 Chromosome 11, 31815345: 31815345
27 PAX6 NM_000280.4(PAX6): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs397514640 GRCh37 Chromosome 11, 31824281: 31824281
28 PAX6 NM_000280.4(PAX6): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs397514640 GRCh38 Chromosome 11, 31802733: 31802733
29 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh37 Chromosome 11, 31823108: 31823108
30 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh38 Chromosome 11, 31801560: 31801560
31 PAX6 NM_000280.4(PAX6): c.46delG (p.Val16Serfs) deletion Pathogenic rs398123296 GRCh37 Chromosome 11, 31824347: 31824347
32 PAX6 NM_000280.4(PAX6): c.46delG (p.Val16Serfs) deletion Pathogenic rs398123296 GRCh38 Chromosome 11, 31802799: 31802799
33 ELP4 NM_019040.4(ELP4): c.1143+14176C> A single nucleotide variant Pathogenic rs606231388 GRCh38 Chromosome 11, 31664397: 31664397
34 ELP4 NM_019040.4(ELP4): c.1143+14176C> A single nucleotide variant Pathogenic rs606231388 GRCh37 Chromosome 11, 31685945: 31685945
35 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh37 Chromosome 11, 31815221: 31815222
36 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh38 Chromosome 11, 31793673: 31793674
37 PAX6 NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs) insertion Pathogenic rs797044642 GRCh37 Chromosome 11, 31811508: 31811509
38 PAX6 NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs) insertion Pathogenic rs797044642 GRCh38 Chromosome 11, 31789960: 31789961
39 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
40 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
41 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh37 Chromosome 9, 3828355: 3828355
42 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh38 Chromosome 9, 3828355: 3828355
43 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh37 Chromosome 12, 39733990: 39733990
44 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh38 Chromosome 12, 39340188: 39340188
45 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
46 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
47 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic NCBI36 Chromosome 4, 111994000: 115504000
48 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic GRCh37 Chromosome 4, 111774551: 115284551
49 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic GRCh38 Chromosome 4, 110853395: 114363395
50 FOXC1; GMDS NC_000006.10: g.1543591_1675085del131495 deletion Pathogenic NCBI36 Chromosome 6, 1543591: 1675085

Copy number variations for Aniridia 1 from CNVD:

7
# 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 1

Search GEO for disease gene expression data for Aniridia 1.

Pathways for Aniridia 1

Pathways related to Aniridia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 ELP4 FOXC1 PAX3 PAX6 PITX2

GO Terms for Aniridia 1

Biological processes related to Aniridia 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 FOXC1 FSHB IGF2 PAX3 PAX6 PITX2
2 positive regulation of transcription, DNA-templated GO:0045893 9.89 FOXC1 PAX3 PAX6 PITX2 WT1
3 transcription by RNA polymerase II GO:0006366 9.85 FOXC1 FOXE3 PAX3 PAX6 PITX2 WT1
4 kidney development GO:0001822 9.65 CAT FOXC1 WT1
5 response to vitamin A GO:0033189 9.51 CAT PITX2
6 ureteric bud development GO:0001657 9.5 CAT FOXC1 WT1
7 cornea development in camera-type eye GO:0061303 9.46 FOXE3 PAX6
8 animal organ morphogenesis GO:0009887 9.46 IGF2 PAX3 PAX6 PITX2
9 eye development GO:0001654 9.43 FOXC1 FOXE3 PAX6
10 lacrimal gland development GO:0032808 9.4 FOXC1 PAX6
11 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
12 camera-type eye development GO:0043010 9.02 FOXC1 FOXE3 PAX6 PITX2 WT1

Molecular functions related to Aniridia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 FOXC1 FOXE3 PAX3 PAX6 PITX2 WT1
2 HMG box domain binding GO:0071837 8.96 PAX3 PAX6

Sources for Aniridia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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