AN1
MCID: ANR048
MIFTS: 64

Aniridia 1 (AN1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aniridia 1

MalaCards integrated aliases for Aniridia 1:

Name: Aniridia 1 58 76 30 6
Aniridia 58 12 77 54 26 38 13 56 6 45 15
Congenital Aniridia 26 30 6
Cataract with Late-Onset Corneal Dystrophy 58 30
An1 58 76
an 58 76
Aniridia Ii, Formerly; An2, Formerly 58
Aniridia Ii, Formerly 58
Aniridia, Congenital 41
Aniridia Type Ii 76
Aplasia of Iris 12
An2, Formerly 58
Absent Iris 26
Irideremia 26
an-1 17
An2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
aniridia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12271
OMIM 58 106210
KEGG 38 H00635
ICD9CM 36 743.45
MeSH 45 D015783
NCIt 51 C84563
SNOMED-CT 69 69278003
ICD10 34 Q13.1
MedGen 43 C0003076
UMLS 74 C0003076

Summaries for Aniridia 1

NIH Rare Diseases : 54 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 isolated aniridia and glaucoma-related pigment dispersion syndrome. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Follicle Stimulating Hormone (FSH) signaling pathway. The drugs Cocaine and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and brain, and related phenotypes are nystagmus and cataract

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Related Diseases for Aniridia 1

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3
Pax6-Related Aniridia

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

(show top 50) (show all 11085)
# Related Disease Score Top Affiliating Genes
1 isolated aniridia 33.8 FOXC1 PAX6
2 glaucoma-related pigment dispersion syndrome 31.2 CYP1B1 PITX2
3 aniridia 2 31.1 ELP4 PAX6
4 axenfeld-rieger syndrome 31.1 CYP1B1 FOXC1 PAX6 PITX2
5 waardenburg's syndrome 31.0 KIR2DS4 PAX3 PAX6
6 coloboma of macula 30.8 CYP1B1 FOXE3 KIR2DS4 PAX6
7 glaucoma 3, primary congenital, a 30.8 CYP1B1 FOXC1 PAX6 PITX2
8 anterior segment dysgenesis 4 30.7 FOXC1 PITX2
9 peters-plus syndrome 30.7 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
10 craniofacial-deafness-hand syndrome 30.6 KIR2DS4 PAX3
11 anterior segment dysgenesis 5 30.6 CYP1B1 PAX6
12 anterior segment dysgenesis 1 30.5 FOXE3 PAX6 PITX2
13 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.4 BDNF ELP4 FSHB PAX6 WT1
14 adamantinoma of long bones 30.4 CYP1B1 FOXC1 PAX6 PITX2
15 coloboma, ocular, autosomal dominant 30.4 CYP1B1 PAX6
16 axenfeld-rieger syndrome, type 2 30.3 FOXC1 PITX2
17 anterior segment dysgenesis 30.2 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 SLC38A8
18 axenfeld-rieger syndrome, type 3 30.2 CYP1B1 FOXC1 PAX6 PITX2
19 congenital aphakia 30.0 FOXE3 PAX6
20 intestinal atresia 29.5 FOXC1 PAX6 PITX2
21 congenital nystagmus 28.9 PAX6 SLC38A8
22 primary congenital glaucoma 28.9 CYP1B1 FOXC1 PITX2
23 early-onset glaucoma 28.8 CYP1B1 PITX2
24 juvenile glaucoma 28.6 CYP1B1 FOXC1 PAX6 PITX2
25 aniridia and absent patella 12.5
26 hair-an syndrome 12.3
27 hemophagocytic syndrome associated with an infection 12.2
28 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
29 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
30 aniridia, microcornea, and spontaneously reabsorbed cataract 12.1
31 pax6-related aniridia 12.1
32 blood group--ahonen 12.1
33 sickle cell disease associated with an other hemoglobin anomaly 12.1
34 silver-russell syndrome due to an imprinting defect of 11p15 12.1
35 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.1
36 acute lymphoblastic leukemia congenital sporadic aniridia 12.0
37 aniridia-intellectual disability syndrome 12.0
38 alopecia, neurologic defects, and endocrinopathy syndrome 11.7
39 acanthosis nigricans 11.7
40 anorexia nervosa 11.6
41 acute necrotizing encephalopathy 11.6
42 encephalopathy, acute, infection-induced 4 11.5
43 schizophrenia 1 11.5
44 schizophrenia 11.5
45 polydactyly, preaxial iii 11.5
46 walker dyson syndrome 11.4
47 schizophrenia 3 11.3
48 schizophrenia 7 11.3
49 schizophrenia 8 11.3
50 bile duct cystadenocarcinoma 11.3

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



Diseases related to Aniridia 1

Symptoms & Phenotypes for Aniridia 1

Human phenotypes related to Aniridia 1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 cataract 33 HP:0000518
3 opacification of the corneal stroma 33 HP:0007759
4 glucose intolerance 33 HP:0001952
5 optic nerve hypoplasia 33 HP:0000609
6 glaucoma 33 HP:0000501
7 polymicrogyria 33 HP:0002126
8 hypoplasia of the corpus callosum 33 HP:0002079
9 aniridia 33 HP:0000526
10 hypoplasia of the fovea 33 HP:0007750
11 increased proinsulin:insulin ratio 33 HP:0031883

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Aniridia 1

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

(show top 50) (show all 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cocaine Approved, Illicit Phase 4 50-36-2 446220 5760
2
Nicotine Approved Phase 4,Not Applicable 54-11-5 89594 942
3
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
6
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
7
Lithium carbonate Approved Phase 4 554-13-2
8
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
9 Immunologic Factors Phase 4,Phase 1,Phase 2
10 Vaccines Phase 4
11 Antimetabolites Phase 4,Phase 2,Not Applicable
12 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
13 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
14 Dopamine Antagonists Phase 4
15 Neurotransmitter Uptake Inhibitors Phase 4
16 Serotonin Agents Phase 4
17 Serotonin Uptake Inhibitors Phase 4
18 Gastrointestinal Agents Phase 4,Not Applicable
19 Autonomic Agents Phase 4,Not Applicable
20 Psychotropic Drugs Phase 4,Phase 3
21 Antiemetics Phase 4
22 Tranquilizing Agents Phase 4,Phase 3
23 Antidepressive Agents Phase 4
24 Dopamine Agents Phase 4
25 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
26 Antipsychotic Agents Phase 4
27 Antimanic Agents Phase 4,Phase 3
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
30
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
31
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
32
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
33
Tamoxifen Approved Phase 3 10540-29-1 2733526
34
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
35
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
36
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
37
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
38
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
39
Doxil Approved June 1999 Phase 3 31703
40 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
41 Excitatory Amino Acids Phase 3
42 Excitatory Amino Acid Antagonists Phase 3
43 Anticonvulsants Phase 3
44 Calcium, Dietary Phase 3,Not Applicable
45 calcium channel blockers Phase 3
46 Analgesics Phase 3,Phase 2,Not Applicable
47 Anti-Anxiety Agents Phase 3
48 Antineoplastic Agents, Hormonal Phase 3
49 Estrogen Receptor Antagonists Phase 3
50 Hormone Antagonists Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
2 Smartphone App and CO Self-monitoring for Smoking Cessation Recruiting NCT02840513 Phase 4
3 Malnutrition in Gastroenterology Patients Completed NCT00168935 Phase 4 Fresubin protein energy Drink (CAVE! nutritional intervention)
4 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Completed NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
5 Physical Activity and Breast Cancer Risk in Postmenopausal Women:the SHAPE Study Completed NCT00359060 Phase 3
6 Pregabalin Treatment and Prevention Post-herpetic Neuralgia Not yet recruiting NCT03186443 Phase 3 Pregabalin;Gabapentin
7 Chemotherapy vs Hormonal Treatment in Platinum-resistant Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3 Tamoxifen;Chemotherapy
8 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
9 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
11 Study of Ataluren in Participants With Nonsense Mutation Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
12 Umbilical Cord Blood Transfusion in Progeria Syndrome Enrolling by invitation NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
13 Nitrous Oxide for Major Depressive Disorder Recruiting NCT03932825 Phase 2 Nitrous Oxide;Placebo
14 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
15 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
16 A Study Evaluating the Efficacy and Safety of Multiple Immunotherapy-based Treatment Combinations in Patients With Locally Advanced or Metastatic Urothelial Carcinoma After Failure With Platinum-Containing Chemotherapy Recruiting NCT03869190 Phase 1, Phase 2 Atezolizumab;Enfortumab Vedotin;Niraparib;Hu5F9-G4;Isatuximab;Linagliptin;Tocilizumab
17 Study to Evaluate the Efficacy and Safety of GSK3196165 Plus Methotrexate in Subjects With Active Moderate-Severe Rheumatoid Arthritis Completed NCT02504671 Phase 2 GSK3196165;MTX;Folic acid;Placebo
18 Dose Escalation, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
19 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Unknown status NCT03137680 Not Applicable
20 Medication List in and Out of Hospital Unknown status NCT01288846
21 Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture Completed NCT03581864
22 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
23 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
24 Positive Angle Kappa Completed NCT01644552
25 Clinical Evaluation of Morcher Artificial Iris Diaphragms Active, not recruiting NCT00812708 Not Applicable
26 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Active, not recruiting NCT01860612 Not Applicable
27 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
28 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Completed NCT02983123
29 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
30 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
31 Feasibility and Security of a Rapid Rule-out and rule-in Troponin Protocol in the Management of NSTEMI in an Emergency Departement Not yet recruiting NCT03668587
32 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
33 Effect of Travoprost 0.004% on Retinal Oximetry in Primary Open Angle Glaucoma Completed NCT01711177 Not Applicable placebo;travoprost
34 A Randomized Controlled Trial of Nicotinamide Supplementation in Early Parkinson's Disease Not yet recruiting NCT03568968 Not Applicable Placebo
35 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591 Not Applicable
36 Sleep and Survival in Colorectal Cancer Active, not recruiting NCT03254836
37 Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures Enrolling by invitation NCT03461978 Not Applicable
38 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
39 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
40 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
41 Smoking and Ventricular Repolarization Recruiting NCT03916341 Not Applicable
42 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188 Not Applicable
43 Glucose Metabolism in Different PCOS Phenotypes Completed NCT03204461
44 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560 Not Applicable

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 30 PAX6 WT1
2 Cataract with Late-Onset Corneal Dystrophy 30
3 Congenital Aniridia 30

Anatomical Context for Aniridia 1

MalaCards organs/tissues related to Aniridia 1:

42
Bone, Breast, Brain, Heart, Kidney, Skin, Lung

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 633)
# Title Authors Year
1
NOVEL APPROACH TO SCLERAL FIXATION OF A REPER INTRAOCULAR LENS AND ARTIFICIAL IRIS COMPLEX FOLLOWING PARS PLANA LENSECTOMY AND VITRECTOMY FOR ECTOPIA LENTIS AND CATARACT IN A PATIENT WITH ANIRIDIA AND NYSTAGMUS. ( 30883458 )
2019
2
Black Diaphragm Intraocular Lens Implantation in Patients with Aniridia. ( 30820283 )
2019
3
Identification of a novel PAX6 mutation in a Chinese family with aniridia. ( 30621664 )
2019
4
Transscleral Fixation of Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture: A Pilot Study. ( 30621268 )
2019
5
Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia. ( 29519880 )
2019
6
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus. ( 30151985 )
2019
7
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment. ( 30985247 )
2019
8
Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus. ( 30572005 )
2019
9
Aniridia: A Rare Manifestation Of Congenital Rubella Syndrome. ( 30868799 )
2019
10
The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction. ( 29801153 )
2018
11
Color Vision in Aniridia. ( 29801149 )
2018
12
Von Hippel-Lindau Incidentally Diagnosed in Evaluation of Sporadic Aniridia. ( 29681293 )
2018
13
Expulsive aniridia following remote radial keratotomy. ( 29631839 )
2018
14
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. ( 29618921 )
2018
15
Already 19: Further Reflections on Parenting, Aniridia, and Being a Doctor. ( 29535249 )
2018
16
The genetics of aniridia - simple things become complicated. ( 29460221 )
2018
17
Bilateral simultaneous artificial iris implantation for post-traumatic aniridia: a case report. ( 29426455 )
2018
18
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family. ( 29380764 )
2018
19
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12. ( 29162348 )
2018
20
Intermediate-Term and Long-Term Outcomes With the Boston Type 1 Keratoprosthesis in Aniridia. ( 28990998 )
2018
21
The genetics of congenital aniridia-a guide for the ophthalmologist. ( 28923585 )
2018
22
Diagnostic impact of anterior segment angiography of limbal stem cell insufficiency in PAX6-related aniridia. ( 28906020 )
2018
23
Topical bevacizumab treatment in aniridia. ( 28620705 )
2018
24
Clinical anatomy of the anterior chamber angle in congenital aniridia and consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2018
25
Iris reconstruction using artificial iris prosthesis for management of aniridia. ( 28574137 )
2018
26
Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia. ( 30556423 )
2018
27
Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. ( 30426773 )
2018
28
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. ( 30334364 )
2018
29
Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model. ( 30292490 )
2018
30
Implication of non-coding PAX6 mutations in aniridia. ( 30291432 )
2018
31
Protecting Pax6 3' UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model. ( 30290306 )
2018
32
Microstructural differences in visual white matter tracts in people with aniridia. ( 30252749 )
2018
33
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. ( 30167917 )
2018
34
Traumatic aniridia after implantable phakic intraocular lens placement. ( 30055957 )
2018
35
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature. ( 29932076 )
2018
36
A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia. ( 29902091 )
2018
37
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. ( 29901133 )
2018
38
Bilateral Deep Sclerectomy with Microperforations as a Successful Secondary Procedure in Aniridia-Associated Glaucoma. ( 29899653 )
2018
39
Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation. ( 29850208 )
2018
40
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. ( 30386378 )
2018
41
Altered Signaling Pathways in Aniridia-Related Keratopathy. ( 30480741 )
2018
42
Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons. ( 29889891 )
2018
43
Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein. ( 29808941 )
2018
44
Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy. ( 29133179 )
2018
45
Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy. ( 29101006 )
2018
46
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center. ( 29703882 )
2018
47
The genetic architecture of aniridia and Gillespie syndrome. ( 30242502 )
2018
48
The role of a femtosecond laser in congenital cataract associated with aniridia. ( 30208147 )
2018
49
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. ( 30221735 )
2018
50
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. ( 27771509 )
2017

Variations for Aniridia 1

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

76 (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 429)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.*2490G> A single nucleotide variant Uncertain significance rs886048191 GRCh37 Chromosome 11, 31808992: 31808992
2 PAX6 NM_000280.4(PAX6): c.*891G> A single nucleotide variant Uncertain significance rs530259403 GRCh37 Chromosome 11, 31810591: 31810591
3 PAX6 NM_000280.4(PAX6): c.*891G> A single nucleotide variant Uncertain significance rs530259403 GRCh38 Chromosome 11, 31789043: 31789043
4 PAX6 NM_000280.4(PAX6): c.*226T> C single nucleotide variant Uncertain significance rs753595935 GRCh37 Chromosome 11, 31811256: 31811256
5 PAX6 NM_000280.4(PAX6): c.*226T> C single nucleotide variant Uncertain significance rs753595935 GRCh38 Chromosome 11, 31789708: 31789708
6 PAX6 NM_000280.4(PAX6): c.*417C> T single nucleotide variant Likely benign rs55756603 GRCh37 Chromosome 11, 31811065: 31811065
7 PAX6 NM_000280.4(PAX6): c.*417C> T single nucleotide variant Likely benign rs55756603 GRCh38 Chromosome 11, 31789517: 31789517
8 PAX6 NM_000280.4(PAX6): c.*357A> T single nucleotide variant Uncertain significance rs774473337 GRCh37 Chromosome 11, 31811125: 31811125
9 PAX6 NM_000280.4(PAX6): c.403C> T (p.Gln135Ter) single nucleotide variant Pathogenic rs1131692304 GRCh37 Chromosome 11, 31822359: 31822359
10 PAX6 NM_000280.4(PAX6): c.401delA (p.Lys134Serfs) deletion Pathogenic rs1131692303 GRCh37 Chromosome 11, 31822361: 31822361
11 PAX6 NM_000280.4(PAX6): c.401delA (p.Lys134Serfs) deletion Pathogenic rs1131692303 GRCh38 Chromosome 11, 31800813: 31800813
12 PAX6 NM_000280.4(PAX6): c.367_373del7 (p.Ile123Glufs) deletion Pathogenic rs1131692302 GRCh37 Chromosome 11, 31822389: 31822395
13 PAX6 NM_000280.4(PAX6): c.367_373del7 (p.Ile123Glufs) deletion Pathogenic rs1131692302 GRCh38 Chromosome 11, 31800841: 31800847
14 PAX6 NM_000280.4(PAX6): c.357C> G (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh37 Chromosome 11, 31823109: 31823109
15 PAX6 NM_000280.4(PAX6): c.357C> G (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh38 Chromosome 11, 31801561: 31801561
16 PAX6 NM_000280.4(PAX6): c.353delC (p.Pro118Glnfs) deletion Pathogenic rs1131692301 GRCh38 Chromosome 11, 31801565: 31801565
17 PAX6 NM_000280.4(PAX6): c.353delC (p.Pro118Glnfs) deletion Pathogenic rs1131692301 GRCh37 Chromosome 11, 31823113: 31823113
18 PAX6 NM_000280.4(PAX6): c.300G> A (p.Trp100Ter) single nucleotide variant Pathogenic rs1131692300 GRCh37 Chromosome 11, 31823166: 31823166
19 PAX6 NM_000280.4(PAX6): c.300G> A (p.Trp100Ter) single nucleotide variant Pathogenic rs1131692300 GRCh38 Chromosome 11, 31801618: 31801618
20 PAX6 NM_000280.4(PAX6): c.293_298delTTGCTTinsGTTCA (p.Phe98Cysfs) indel Pathogenic rs1131692299 GRCh37 Chromosome 11, 31823168: 31823173
21 PAX6 NM_000280.4(PAX6): c.293_298delTTGCTTinsGTTCA (p.Phe98Cysfs) indel Pathogenic rs1131692299 GRCh38 Chromosome 11, 31801620: 31801625
22 PAX6 NM_000280.4(PAX6): c.291_294dup (p.Ala99Leufs) duplication Pathogenic rs1131692298 GRCh37 Chromosome 11, 31823172: 31823175
23 PAX6 NM_000280.4(PAX6): c.291_294dup (p.Ala99Leufs) duplication Pathogenic rs1131692298 GRCh38 Chromosome 11, 31801624: 31801627
24 PAX6 NM_000280.4(PAX6): c.265C> T (p.Gln89Ter) single nucleotide variant Pathogenic rs1131692297 GRCh37 Chromosome 11, 31823201: 31823201
25 PAX6 NM_000280.4(PAX6): c.265C> T (p.Gln89Ter) single nucleotide variant Pathogenic rs1131692297 GRCh38 Chromosome 11, 31801653: 31801653
26 PAX6 NM_000280.4(PAX6): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs1131692296 GRCh37 Chromosome 11, 31823222: 31823222
27 PAX6 NM_000280.4(PAX6): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs1131692296 GRCh38 Chromosome 11, 31801674: 31801674
28 PAX6 NM_000280.4(PAX6): c.184G> T (p.Glu62Ter) single nucleotide variant Pathogenic rs1131692295 GRCh37 Chromosome 11, 31823282: 31823282
29 PAX6 NM_000280.4(PAX6): c.184G> T (p.Glu62Ter) single nucleotide variant Pathogenic rs1131692295 GRCh38 Chromosome 11, 31801734: 31801734
30 PAX6 NM_000280.4(PAX6): c.164A> C (p.Lys55Thr) single nucleotide variant Likely pathogenic rs1131692294 GRCh37 Chromosome 11, 31823302: 31823302
31 PAX6 NM_000280.4(PAX6): c.164A> C (p.Lys55Thr) single nucleotide variant Likely pathogenic rs1131692294 GRCh38 Chromosome 11, 31801754: 31801754
32 PAX6 NM_000280.4(PAX6): c.151G> A (p.Gly51Arg) single nucleotide variant Pathogenic rs1131692293 GRCh38 Chromosome 11, 31801767: 31801767
33 PAX6 NM_000280.4(PAX6): c.151G> A (p.Gly51Arg) single nucleotide variant Pathogenic rs1131692293 GRCh37 Chromosome 11, 31823315: 31823315
34 PAX6 NM_000280.4(PAX6): c.142-5T> G single nucleotide variant Likely pathogenic rs1131692292 GRCh38 Chromosome 11, 31801781: 31801781
35 PAX6 NM_000280.4(PAX6): c.142-5T> G single nucleotide variant Likely pathogenic rs1131692292 GRCh37 Chromosome 11, 31823329: 31823329
36 PAX6 NM_000280.4(PAX6): c.142-14C> G single nucleotide variant Likely pathogenic rs1131692291 GRCh37 Chromosome 11, 31823338: 31823338
37 PAX6 NM_000280.4(PAX6): c.142-14C> G single nucleotide variant Likely pathogenic rs1131692291 GRCh38 Chromosome 11, 31801790: 31801790
38 PAX6 NM_000280.4(PAX6): c.141+4A> G single nucleotide variant Likely pathogenic rs1131692290 GRCh38 Chromosome 11, 31802700: 31802700
39 PAX6 NM_000280.4(PAX6): c.141+4A> G single nucleotide variant Likely pathogenic rs1131692290 GRCh37 Chromosome 11, 31824248: 31824248
40 PAX6 NM_000280.4(PAX6): c.133_141+4del13 deletion Pathogenic rs1554985709 GRCh37 Chromosome 11, 31824248: 31824260
41 PAX6 NM_000280.4(PAX6): c.403C> T (p.Gln135Ter) single nucleotide variant Pathogenic rs1131692304 GRCh38 Chromosome 11, 31800811: 31800811
42 PAX6 NM_000280.4(PAX6): c.449_453delACGGGinsCCGGAAC (p.Asn150Thrfs) indel Pathogenic rs1131692305 GRCh38 Chromosome 11, 31800761: 31800765
43 PAX6 NM_000280.4(PAX6): c.449_453delACGGGinsCCGGAAC (p.Asn150Thrfs) indel Pathogenic rs1131692305 GRCh37 Chromosome 11, 31822309: 31822313
44 PAX6 NM_000280.4(PAX6): c.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic rs1131692306 GRCh37 Chromosome 11, 31822295: 31822295
45 PAX6 NM_000280.4(PAX6): c.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic rs1131692306 GRCh38 Chromosome 11, 31800747: 31800747
46 PAX6 NM_000280.4(PAX6): c.491delC (p.Pro164Argfs) deletion Pathogenic rs1131692307 GRCh37 Chromosome 11, 31822271: 31822271
47 PAX6 NM_000280.4(PAX6): c.491delC (p.Pro164Argfs) deletion Pathogenic rs1131692307 GRCh38 Chromosome 11, 31800723: 31800723
48 PAX6 NM_000280.4(PAX6): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs1131692308 GRCh37 Chromosome 11, 31822251: 31822251
49 PAX6 NM_000280.4(PAX6): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs1131692308 GRCh38 Chromosome 11, 31800703: 31800703
50 PAX6 NM_000280.4(PAX6): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic rs1131692309 GRCh37 Chromosome 11, 31816199: 31816199

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
2 10.39 BDNF FSHB

GO Terms for Aniridia 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 FOXC1 FSHB PAX3 PAX6 PITX2 WT1
2 anatomical structure morphogenesis GO:0009653 9.65 FOXC1 FOXE3 PITX2
3 kidney development GO:0001822 9.63 CAT FOXC1 WT1
4 transcription by RNA polymerase II GO:0006366 9.54 FOXE3 PAX3 PAX6
5 ureteric bud development GO:0001657 9.5 CAT FOXC1 WT1
6 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
7 eye development GO:0001654 9.43 FOXC1 FOXE3 PAX6
8 lacrimal gland development GO:0032808 9.4 FOXC1 PAX6
9 trabecular meshwork development GO:0002930 9.16 CYP1B1 FOXE3
10 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
11 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 DNA-binding transcription factor activity GO:0003700 9.43 FOXC1 FOXE3 PAX3 PAX6 PITX2 WT1
2 HMG box domain binding GO:0071837 9.16 PAX3 PAX6
3 sequence-specific DNA binding GO:0043565 9.1 FOXC1 FOXE3 PAX3 PAX6 PITX2 WT1

Sources for Aniridia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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