AN1
MCID: ANR048
MIFTS: 63

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 Carbon monoxide have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver, 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 10729)
# Related Disease Score Top Affiliating Genes
1 isolated aniridia 33.8 PAX6 FOXC1
2 glaucoma-related pigment dispersion syndrome 31.2 PITX2 CYP1B1
3 axenfeld-rieger syndrome 31.1 CYP1B1 FOXC1 PAX6 PITX2
4 waardenburg's syndrome 30.8 PAX6 PAX3 KIR2DS4
5 glaucoma 3, primary congenital, a 30.7 CYP1B1 FOXC1 PAX6 PITX2
6 anterior segment dysgenesis 4 30.7 PITX2 FOXC1
7 coloboma of macula 30.7 PAX6 KIR2DS4 FOXE3 CYP1B1
8 craniofacial-deafness-hand syndrome 30.6 PAX3 KIR2DS4
9 anterior segment dysgenesis 5 30.6 PAX6 CYP1B1
10 peters-plus syndrome 30.6 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
11 anterior segment dysgenesis 1 30.5 PITX2 PAX6 FOXE3
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.4 BDNF ELP4 FSHB PAX6 WT1
13 adamantinoma of long bones 30.4 PITX2 PAX6 FOXC1 CYP1B1
14 aniridia 2 30.4 PAX6 ELP4
15 coloboma, ocular, autosomal dominant 30.3 PAX6 CYP1B1
16 axenfeld-rieger syndrome, type 2 30.3 PITX2 FOXC1
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 30.1 PAX6 FOXE3
20 intestinal atresia 29.6 PITX2 PAX6 FOXC1
21 congenital nystagmus 28.9 SLC38A8 PAX6
22 primary congenital glaucoma 28.9 PITX2 FOXC1 CYP1B1
23 early-onset glaucoma 28.8 PITX2 CYP1B1
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 sickle cell disease associated with an other hemoglobin anomaly 12.1
33 silver-russell syndrome due to an imprinting defect of 11p15 12.1
34 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.0
35 blood group--ahonen 12.0
36 acute lymphoblastic leukemia congenital sporadic aniridia 12.0
37 aniridia-intellectual disability syndrome 12.0
38 acanthosis nigricans 11.7
39 alopecia, neurologic defects, and endocrinopathy syndrome 11.6
40 anorexia nervosa 11.6
41 acute necrotizing encephalopathy 11.5
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 11.3
47 schizophrenia 3 11.3
48 schizophrenia 7 11.3
49 schizophrenia 8 11.3
50 schizophrenia 15 11.1

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 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cocaine Approved, Illicit Phase 4 50-36-2 446220 5760
2
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
3
Nicotine Approved Phase 4 54-11-5 942 89594
4
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
5
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
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 Vaccines Phase 4
10 Immunologic Factors Phase 4,Phase 1,Phase 2
11 Antimetabolites Phase 4,Phase 2,Not Applicable
12 Neurotransmitter Agents Phase 4,Phase 3
13 Antidepressive Agents Phase 4
14 Antimanic Agents Phase 4,Phase 3
15 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
18 Dopamine Agents Phase 4
19 Serotonin Agents Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 Autonomic Agents Phase 4
22 Psychotropic Drugs Phase 4,Phase 3
23 Gastrointestinal Agents Phase 4,Not Applicable
24 Dopamine Antagonists Phase 4
25 Tranquilizing Agents Phase 4,Phase 3
26 Antiemetics Phase 4
27 Antipsychotic Agents Phase 4
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
30
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
31
Tamoxifen Approved Phase 3 10540-29-1 2733526
32
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
33
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
34
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
35
Cisplatin Approved Phase 3 15663-27-1 441203 84093 2767
36
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
37
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
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 calcium channel blockers Phase 3
42 Excitatory Amino Acid Antagonists Phase 3
43 Anti-Anxiety Agents Phase 3
44 Analgesics Phase 3,Not Applicable
45 Calcium, Dietary Phase 3,Not Applicable
46 Excitatory Amino Acids Phase 3
47 Anticonvulsants Phase 3
48 taxane Phase 3
49 Estrogens Phase 3
50 Antineoplastic Agents, Phytogenic Phase 3

Interventional clinical trials:

(show all 42)
# 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 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
14 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
15 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 Not yet recruiting NCT03869190 Phase 1, Phase 2 Atezolizumab;Enfortumab Vedotin;Niraparib;Hu5F9-G4;Isatuximab;Linagliptin;Tocilizumab
16 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
17 Dose Escalation, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
18 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Unknown status NCT03137680 Not Applicable
19 Medication List in and Out of Hospital Unknown status NCT01288846
20 Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture Completed NCT03581864
21 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
22 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
23 Positive Angle Kappa Completed NCT01644552
24 Clinical Evaluation of Morcher Artificial Iris Diaphragms Active, not recruiting NCT00812708 Not Applicable
25 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Active, not recruiting NCT01860612 Not Applicable
26 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
27 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Completed NCT02983123
28 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
29 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
30 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
31 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
32 Effect of Travoprost 0.004% on Retinal Oximetry in Primary Open Angle Glaucoma Completed NCT01711177 Not Applicable placebo;travoprost
33 A Randomized Controlled Trial of Nicotinamide Supplementation in Early Parkinson's Disease Not yet recruiting NCT03568968 Not Applicable Placebo
34 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591 Not Applicable
35 Sleep and Survival in Colorectal Cancer Active, not recruiting NCT03254836
36 Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures Enrolling by invitation NCT03461978 Not Applicable
37 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
38 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
39 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
40 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188 Not Applicable
41 Glucose Metabolism in Different PCOS Phenotypes Completed NCT03204461
42 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
Eye, Kidney, Liver, Bone, Breast, Pineal, Olfactory Bulb

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 146)
# 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
Aniridia: A Rare Manifestation Of Congenital Rubella Syndrome. ( 30868799 )
2019
3
Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia. ( 29519880 )
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
Identification of a novel PAX6 mutation in a Chinese family with aniridia. ( 30621664 )
2019
6
Black Diaphragm Intraocular Lens Implantation in Patients with Aniridia. ( 30820283 )
2019
7
Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy. ( 29133179 )
2018
8
Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy. ( 29101006 )
2018
9
The role of a femtosecond laser in congenital cataract associated with aniridia. ( 30208147 )
2018
10
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. ( 30221735 )
2018
11
Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus. ( 30572005 )
2018
12
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus. ( 30151985 )
2018
13
The genetic architecture of aniridia and Gillespie syndrome. ( 30242502 )
2018
14
Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons. ( 29889891 )
2018
15
Altered Signaling Pathways in Aniridia-Related Keratopathy. ( 30480741 )
2018
16
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. ( 30386378 )
2018
17
Intermediate-Term and Long-Term Outcomes With the Boston Type 1 Keratoprosthesis in Aniridia. ( 28990998 )
2018
18
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12. ( 29162348 )
2018
19
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family. ( 29380764 )
2018
20
Bilateral simultaneous artificial iris implantation for post-traumatic aniridia: a case report. ( 29426455 )
2018
21
The genetics of aniridia - simple things become complicated. ( 29460221 )
2018
22
Already 19: Further Reflections on Parenting, Aniridia, and Being a Doctor. ( 29535249 )
2018
23
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. ( 29618921 )
2018
24
Expulsive aniridia following remote radial keratotomy. ( 29631839 )
2018
25
Von Hippel-Lindau Incidentally Diagnosed in Evaluation of Sporadic Aniridia. ( 29681293 )
2018
26
Color Vision in Aniridia. ( 29801149 )
2018
27
The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction. ( 29801153 )
2018
28
Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation. ( 29850208 )
2018
29
Bilateral Deep Sclerectomy with Microperforations as a Successful Secondary Procedure in Aniridia-Associated Glaucoma. ( 29899653 )
2018
30
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. ( 29901133 )
2018
31
A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia. ( 29902091 )
2018
32
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature. ( 29932076 )
2018
33
Traumatic aniridia after implantable phakic intraocular lens placement. ( 30055957 )
2018
34
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. ( 30167917 )
2018
35
Microstructural differences in visual white matter tracts in people with aniridia. ( 30252749 )
2018
36
Protecting Pax6 3' UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model. ( 30290306 )
2018
37
Implication of non-coding PAX6 mutations in aniridia. ( 30291432 )
2018
38
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
39
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. ( 30334364 )
2018
40
Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. ( 30426773 )
2018
41
Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia. ( 30556423 )
2018
42
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ( 28157223 )
2017
43
Clinical anatomy of the anterior chamber angle in congenital aniridia: And consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2017
44
The Genetics of Congenital Aniridia - A Guide for the Ophthalmologist. ( 28923585 )
2017
45
Congenital aniridia with cataract: case series. ( 28676040 )
2017
46
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. ( 28488383 )
2017
47
Structural brain abnormalities in 12 persons with aniridia. ( 29034075 )
2017
48
Novel PAX6 mutation reported in an aniridia patient. ( 29238604 )
2017
49
Congenital Aniridia and the Ocular Surface. ( 26738798 )
2016
50
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. ( 26949363 )
2016

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 425)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh37 Chromosome 9, 3828355: 3828355
2 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh38 Chromosome 9, 3828355: 3828355
3 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh37 Chromosome 12, 39733990: 39733990
4 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh38 Chromosome 12, 39340188: 39340188
5 PAX6 NM_000280.4(PAX6): c.52G> C (p.Gly18Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886044289 GRCh37 Chromosome 11, 31824341: 31824341
6 PAX6 NM_000280.4(PAX6): c.52G> C (p.Gly18Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886044289 GRCh38 Chromosome 11, 31802793: 31802793
7 PAX6 NM_000280.4(PAX6): c.-59G> T single nucleotide variant Uncertain significance rs886048204 GRCh37 Chromosome 11, 31828404: 31828404
8 PAX6 NM_000280.4(PAX6): c.-59G> T single nucleotide variant Uncertain significance rs886048204 GRCh38 Chromosome 11, 31806856: 31806856
9 PAX6 NM_000280.4(PAX6): c.-147_-146dupGA duplication Uncertain significance rs886048205 GRCh37 Chromosome 11, 31832393: 31832394
10 PAX6 NM_000280.4(PAX6): c.-147_-146dupGA duplication Uncertain significance rs886048205 GRCh38 Chromosome 11, 31810845: 31810846
11 PAX6 NM_000280.4(PAX6): c.1224C> G (p.Pro408=) single nucleotide variant Uncertain significance rs369180308 GRCh38 Chromosome 11, 31789979: 31789979
12 PAX6 NM_000280.4(PAX6): c.1224C> G (p.Pro408=) single nucleotide variant Uncertain significance rs369180308 GRCh37 Chromosome 11, 31811527: 31811527
13 PAX6 NM_000280.4(PAX6): c.141+1G> C single nucleotide variant Pathogenic rs1554985714 GRCh37 Chromosome 11, 31824251: 31824251
14 PAX6 NM_000280.4(PAX6): c.141+1G> C single nucleotide variant Pathogenic rs1554985714 GRCh38 Chromosome 11, 31802703: 31802703
15 PAX6 NM_000280.4(PAX6): c.357+334G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 31801227: 31801227
16 PAX6 NM_000280.4(PAX6): c.357+334G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 31822775: 31822775
17 PAX6 NM_000280.4(PAX6): c.357+136G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 31822973: 31822973
18 PAX6 NM_000280.4(PAX6): c.357+136G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 31801425: 31801425
19 PAX6 NM_000280.4(PAX6): c.-52+3_-52+6delinsTG indel Pathogenic GRCh37 Chromosome 11, 31828391: 31828394
20 PAX6 NM_000280.4(PAX6): c.-52+3_-52+6delinsTG indel Pathogenic GRCh38 Chromosome 11, 31806843: 31806846
21 PAX6 NM_000280.4(PAX6): c.-52+5del deletion Pathogenic GRCh38 Chromosome 11, 31806844: 31806844
22 PAX6 NM_000280.4(PAX6): c.-52+5del deletion Pathogenic GRCh37 Chromosome 11, 31828392: 31828392
23 PAX6 NM_000280.4(PAX6): c.-52+3_-52+4del deletion Pathogenic GRCh37 Chromosome 11, 31828393: 31828394
24 PAX6 NM_000280.4(PAX6): c.-52+3_-52+4del deletion Pathogenic GRCh38 Chromosome 11, 31806845: 31806846
25 PAX6 NM_000280.4(PAX6): c.-118_-117delTT deletion Likely pathogenic GRCh38 Chromosome 11, 31806914: 31806915
26 PAX6 NM_000280.4(PAX6): c.-118_-117delTT deletion Likely pathogenic GRCh37 Chromosome 11, 31828462: 31828463
27 PAX6 NM_000280.4(PAX6): c.-129+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31832375: 31832375
28 PAX6 NM_000280.4(PAX6): c.-129+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31810827: 31810827
29 PAX6 NM_000280.4(PAX6): c.-7421C> T single nucleotide variant Uncertain significance rs537446654 GRCh37 Chromosome 11, 31839767: 31839767
30 PAX6 NM_000280.4(PAX6): c.-7421C> T single nucleotide variant Uncertain significance rs537446654 GRCh38 Chromosome 11, 31818219: 31818219
31 PAX6 NM_001604.5(PAX6): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31823161: 31823161
32 PAX6 NM_001604.5(PAX6): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31801613: 31801613
33 PAX6 NM_000280.4(PAX6): c.532C> T (p.Gln178Ter) single nucleotide variant not provided GRCh37 Chromosome 11, 31816328: 31816328
34 PAX6 NM_000280.4(PAX6): c.532C> T (p.Gln178Ter) single nucleotide variant not provided GRCh38 Chromosome 11, 31794780: 31794780
35 PAX6 NC_000011.9: g.(?_31284590)_(32456911_?)del deletion Pathogenic GRCh37 Chromosome 11, 31284590: 32456911
36 PAX6 NM_000280.4(PAX6): c.34G> C (p.Gly12Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 31824359: 31824359
37 PAX6 NM_000280.4(PAX6): c.34G> C (p.Gly12Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 31802811: 31802811
38 PAX6 NM_000280.4(PAX6): c.102_106delCAGCGinsAACC (p.His34Glnfs) indel Pathogenic GRCh37 Chromosome 11, 31824287: 31824291
39 PAX6 NM_000280.4(PAX6): c.102_106delCAGCGinsAACC (p.His34Glnfs) indel Pathogenic GRCh38 Chromosome 11, 31802739: 31802743
40 PAX6 NM_000280.4(PAX6): c.114dup (p.Pro39Alafs) duplication Pathogenic GRCh37 Chromosome 11, 31824279: 31824279
41 PAX6 NM_000280.4(PAX6): c.114dup (p.Pro39Alafs) duplication Pathogenic GRCh38 Chromosome 11, 31802731: 31802731
42 PAX6 NM_000280.4(PAX6): c.220A> T (p.Ser74Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 31823246: 31823246
43 PAX6 NM_000280.4(PAX6): c.220A> T (p.Ser74Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 31801698: 31801698
44 PAX6 NM_001604.5(PAX6): c.(10+1_11-1)_(1311_?)del deletion Pathogenic GRCh38 Chromosome 11, 31789934: 31806401
45 PAX6 NM_001604.5(PAX6): c.(10+1_11-1)_(1311_?)del deletion Pathogenic GRCh37 Chromosome 11, 31811482: 31827949
46 PAX6 NM_000280.4(PAX6): c.299G> A (p.Trp100Ter) single nucleotide variant Pathogenic rs1554985320 GRCh38 Chromosome 11, 31801619: 31801619
47 PAX6 NM_000280.4(PAX6): c.299G> A (p.Trp100Ter) single nucleotide variant Pathogenic rs1554985320 GRCh37 Chromosome 11, 31823167: 31823167
48 PAX6 NM_000280.4(PAX6): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs1554986754 GRCh38 Chromosome 11, 31806409: 31806409
49 PAX6 NM_000280.4(PAX6): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs1554986754 GRCh37 Chromosome 11, 31827957: 31827957
50 PAX6 NM_000280.4(PAX6): c.114_121delGCCGTGCG (p.Pro39Hisfs) deletion Pathogenic rs1554985737 GRCh38 Chromosome 11, 31802724: 31802731

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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