AN1
MCID: ANR048
MIFTS: 65

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 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 isolated aniridia and axenfeld-rieger 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 Nicotine and Cocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are ptosis and nystagmus

Genetics Home Reference : 25 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

OMIM : 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.

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 10463)
# Related Disease Score Top Affiliating Genes
1 isolated aniridia 33.5 PAX6 FOXC1
2 axenfeld-rieger syndrome 31.0 PITX2 PAX6 OPTN FOXC1
3 hemihyperplasia, isolated 30.9 WT1 IGF2
4 peters-plus syndrome 30.9 PITX2 PAX6 FOXE3 FOXC1
5 waardenburg's syndrome 30.8 PAX6 PAX3 KIR2DS4
6 cataract 30.8 PITX2 PAX6 FOXE3 ELP4
7 glaucoma 3, primary congenital, a 30.7 PITX2 PAX6 OPTN FOXC1
8 coloboma of macula 30.7 PAX6 OPTN KIR2DS4 FOXE3
9 ewing sarcoma 30.6 WT1 PAX6 PAX3 OPTN IGF2 FOXC1
10 adamantinoma of long bones 30.6 PITX2 PAX6 OPTN FOXC1
11 anterior segment dysgenesis 4 30.5 PITX2 FOXC1
12 anterior segment dysgenesis 30.5 SLC38A8 PITX2 PAX6 FOXE3 FOXC1
13 sclerocornea 30.4 OPTN FOXE3
14 craniofacial-deafness-hand syndrome 30.4 PAX3 KIR2DS4
15 anterior segment dysgenesis 1 30.3 PITX2 PAX6 FOXE3
16 axenfeld-rieger syndrome, type 3 30.2 PITX2 PAX6 FOXC1
17 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.2 WT1 PAX6 IGF2 FSHB ELP4 BDNF
18 aniridia 2 30.1 PAX6 ELP4
19 axenfeld-rieger syndrome, type 2 30.0 PITX2 OPTN FOXC1
20 congenital aphakia 29.9 PAX6 OPTN FOXE3
21 intestinal atresia 29.4 PITX2 PAX6 FOXC1
22 primary congenital glaucoma 28.8 PITX2 OPTN FOXC1
23 muscle cancer 28.8 WT1 PAX3 IGF2
24 ritscher-schinzel syndrome 28.6 OPTN FOXC1
25 juvenile glaucoma 28.6 PITX2 PAX6 OPTN FOXC1
26 aniridia and absent patella 12.5
27 hair-an syndrome 12.3
28 hemophagocytic syndrome associated with an infection 12.2
29 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
30 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
31 aniridia, microcornea, and spontaneously reabsorbed cataract 12.1
32 sickle cell disease associated with an other hemoglobin anomaly 12.0
33 silver-russell syndrome due to an imprinting defect of 11p15 12.0
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 11.6
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 11.4
46 walker dyson syndrome 11.3
47 pheochromocytoma 11.3
48 schizophrenia 3 11.3
49 schizophrenia 7 11.3
50 schizophrenia 8 11.3

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 36)
# 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 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 abnormal glucose tolerance 32 HP:0001952
35 macular hypopigmentation 32 frequent (33%) HP:0007988
36 increased proinsulin 32 HP:0031883

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 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
3
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
4
Lithium carbonate Approved Phase 4 554-13-2
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
7
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
8
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
9 Immunologic Factors Phase 4
10 Vaccines Phase 4
11 Neurotransmitter Agents Phase 4,Phase 3
12 Antimetabolites Phase 4,Phase 2,Not Applicable
13 Psychotropic Drugs Phase 4,Phase 3
14 Serotonin Uptake Inhibitors Phase 4
15 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
16 Serotonin Agents Phase 4
17 Dopamine Antagonists Phase 4
18 Antimanic Agents Phase 4,Phase 3
19 Antipsychotic Agents Phase 4
20 Neurotransmitter Uptake Inhibitors Phase 4
21 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
22 Tranquilizing Agents Phase 4,Phase 3
23 Antidepressive Agents Phase 4
24 Gastrointestinal Agents Phase 4,Not Applicable
25 Antiemetics Phase 4
26 Autonomic Agents Phase 4
27 Dopamine 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
gamma-Aminobutyric acid Approved, Investigational Phase 3 56-12-2 119
32
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
33
Tamoxifen Approved Phase 3 10540-29-1 2733526
34
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
35
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
36
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
37
Doxil Approved June 1999 Phase 3 31703
38 Hormones Phase 3
39 calcium channel blockers Phase 3
40 Excitatory Amino Acids Phase 3
41 Antiparkinson Agents Phase 3
42 GABA Agents Phase 3
43 Analgesics Phase 3,Not Applicable
44 Excitatory Amino Acid Antagonists Phase 3
45 Calcium, Dietary Phase 3,Not Applicable
46 Anticonvulsants Phase 3
47 Anti-Anxiety Agents Phase 3
48 Estrogens Phase 3
49 Antibiotics, Antitubercular Phase 3
50 Anti-Bacterial Agents Phase 3

Interventional clinical trials:

(show all 38)
# 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 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
10 Study of Ataluren in Participants With Nonsense Mutation Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
11 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
12 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
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 Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture Completed NCT03581864
16 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
17 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
18 Positive Angle Kappa Completed NCT01644552
19 Clinical Evaluation of Morcher Artificial Iris Diaphragms Active, not recruiting NCT00812708 Not Applicable
20 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Active, not recruiting NCT01860612 Not Applicable
21 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
22 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Completed NCT02983123
23 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
24 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Not yet recruiting NCT03137680 Not Applicable
25 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
26 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
27 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
28 A Randomized Controlled Trial of Nicotinamide Supplementation in Early Parkinson's Disease Not yet recruiting NCT03568968 Not Applicable Placebo
29 Effect of Travoprost 0.004% on Retinal Oximetry in Primary Open Angle Glaucoma Completed NCT01711177 Not Applicable placebo;travoprost
30 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591 Not Applicable
31 Sleep and Survival in Colorectal Cancer Active, not recruiting NCT03254836
32 Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures Enrolling by invitation NCT03461978 Not Applicable
33 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
34 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
35 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
36 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188 Not Applicable
37 Glucose Metabolism in Different PCOS Phenotypes Completed NCT03204461
38 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 29 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, Brain, Lung, Bone, Heart, Breast

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 160)
# 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
The role of a femtosecond laser in congenital cataract associated with aniridia. ( 30208147 )
2018
4
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. ( 30221735 )
2018
5
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus. ( 30151985 )
2018
6
The genetic architecture of aniridia and Gillespie syndrome. ( 30242502 )
2018
7
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. ( 30386378 )
2018
8
The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction. ( 29801153 )
2018
9
Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation. ( 29850208 )
2018
10
Bilateral Deep Sclerectomy with Microperforations as a Successful Secondary Procedure in Aniridia-Associated Glaucoma. ( 29899653 )
2018
11
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. ( 29901133 )
2018
12
A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia. ( 29902091 )
2018
13
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature. ( 29932076 )
2018
14
Traumatic aniridia after implantable phakic intraocular lens placement. ( 30055957 )
2018
15
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. ( 30167917 )
2018
16
Microstructural differences in visual white matter tracts in people with aniridia. ( 30252749 )
2018
17
Protecting Pax6 3' UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model. ( 30290306 )
2018
18
Implication of non-coding PAX6 mutations in aniridia. ( 30291432 )
2018
19
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
20
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. ( 30334364 )
2018
21
Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. ( 30426773 )
2018
22
Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia. ( 30556423 )
2018
23
Altered Signaling Pathways in Aniridia-Related Keratopathy. ( 30480741 )
2018
24
Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons. ( 29889891 )
2018
25
Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia. ( 29519880 )
2018
26
Intermediate-Term and Long-Term Outcomes With the Boston Type 1 Keratoprosthesis in Aniridia. ( 28990998 )
2018
27
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12. ( 29162348 )
2018
28
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family. ( 29380764 )
2018
29
Bilateral simultaneous artificial iris implantation for post-traumatic aniridia: a case report. ( 29426455 )
2018
30
The genetics of aniridia - simple things become complicated. ( 29460221 )
2018
31
Already 19: Further Reflections on Parenting, Aniridia, and Being a Doctor. ( 29535249 )
2018
32
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. ( 29618921 )
2018
33
Expulsive aniridia following remote radial keratotomy. ( 29631839 )
2018
34
Von Hippel-Lindau Incidentally Diagnosed in Evaluation of Sporadic Aniridia. ( 29681293 )
2018
35
Color Vision in Aniridia. ( 29801149 )
2018
36
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ( 28157223 )
2017
37
Clinical anatomy of the anterior chamber angle in congenital aniridia: And consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2017
38
The Genetics of Congenital Aniridia - A Guide for the Ophthalmologist. ( 28923585 )
2017
39
Congenital aniridia with cataract: case series. ( 28676040 )
2017
40
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. ( 28488383 )
2017
41
Structural brain abnormalities in 12 persons with aniridia. ( 29034075 )
2017
42
Novel PAX6 mutation reported in an aniridia patient. ( 29238604 )
2017
43
Congenital Aniridia and the Ocular Surface. ( 26738798 )
2016
44
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. ( 26949363 )
2016
45
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. ( 27160090 )
2016
46
A nonsense PAX6 mutation in a family with congenital aniridia. ( 28018434 )
2016
47
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. ( 26849621 )
2016
48
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
49
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. ( 27455012 )
2016
50
Artificial iris implantation in a male with post-traumatic aniridia - case report. ( 29715406 )
2016

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 405)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh37 Chromosome 11, 31815221: 31815222
2 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh38 Chromosome 11, 31793673: 31793674
3 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
4 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
5 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
6 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
7 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh37 Chromosome 11, 31806883: 31806883
8 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh38 Chromosome 11, 31785335: 31785335
9 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh37 Chromosome 11, 31807121: 31807121
10 PAX6 NM_000280.4(PAX6): c.1224C> G (p.Pro408=) single nucleotide variant Uncertain significance rs369180308 GRCh38 Chromosome 11, 31789979: 31789979
11 PAX6 NM_000280.4(PAX6): c.1224C> G (p.Pro408=) single nucleotide variant Uncertain significance rs369180308 GRCh37 Chromosome 11, 31811527: 31811527
12 PAX6 NM_000280.4(PAX6): c.141+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31824251: 31824251
13 PAX6 NM_000280.4(PAX6): c.141+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31802703: 31802703
14 PAX6 NM_000280.4(PAX6): c.952delA (p.Thr318Glnfs) deletion Pathogenic GRCh38 Chromosome 11, 31793518: 31793518
15 PAX6 NM_000280.4(PAX6): c.952delA (p.Thr318Glnfs) deletion Pathogenic GRCh37 Chromosome 11, 31815066: 31815066
16 PAX6 NC_000011.9: g.(?_31284590)_(32456911_?)del deletion Pathogenic GRCh37 Chromosome 11, 31284590: 32456911
17 PAX6 NM_000280.4(PAX6): c.532C> T (p.Gln178Ter) single nucleotide variant not provided GRCh37 Chromosome 11, 31816328: 31816328
18 PAX6 NM_000280.4(PAX6): c.532C> T (p.Gln178Ter) single nucleotide variant not provided GRCh38 Chromosome 11, 31794780: 31794780
19 PAX6 NM_000280.4(PAX6): c.34G> C (p.Gly12Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 31824359: 31824359
20 PAX6 NM_000280.4(PAX6): c.34G> C (p.Gly12Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 31802811: 31802811
21 PAX6 NM_000280.4(PAX6): c.102_106delCAGCGinsAACC (p.His34Glnfs) indel Pathogenic GRCh37 Chromosome 11, 31824287: 31824291
22 PAX6 NM_000280.4(PAX6): c.102_106delCAGCGinsAACC (p.His34Glnfs) indel Pathogenic GRCh38 Chromosome 11, 31802739: 31802743
23 PAX6 NM_000280.4(PAX6): c.114dup (p.Pro39Alafs) duplication Pathogenic GRCh37 Chromosome 11, 31824279: 31824279
24 PAX6 NM_000280.4(PAX6): c.114dup (p.Pro39Alafs) duplication Pathogenic GRCh38 Chromosome 11, 31802731: 31802731
25 PAX6 NM_001604.5(PAX6): c.(10+1_11-1)_(1311_?)del deletion Pathogenic GRCh38 Chromosome 11, 31789934: 31806401
26 PAX6 NM_001604.5(PAX6): c.(10+1_11-1)_(1311_?)del deletion Pathogenic GRCh37 Chromosome 11, 31811482: 31827949
27 PAX6 NM_000280.4(PAX6): c.299G> A (p.Trp100Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31801619: 31801619
28 PAX6 NM_000280.4(PAX6): c.299G> A (p.Trp100Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31823167: 31823167
29 PAX6 NM_000280.4(PAX6): c.536_537insC (p.Gln179Hisfs) insertion Pathogenic GRCh37 Chromosome 11, 31816323: 31816324
30 PAX6 NM_000280.4(PAX6): c.536_537insC (p.Gln179Hisfs) insertion Pathogenic GRCh38 Chromosome 11, 31794775: 31794776
31 PAX6 NC_000011.10: g.(?_31789934)_(31806411_?)del deletion Pathogenic GRCh37 Chromosome 11, 31811482: 31827959
32 PAX6 NC_000011.10: g.(?_31789934)_(31806411_?)del deletion Pathogenic GRCh38 Chromosome 11, 31789934: 31806411
33 PAX6 NC_000011.10: g.(?_31789914)_(31790880_?)del deletion Likely pathogenic GRCh38 Chromosome 11, 31789914: 31790880
34 PAX6 NC_000011.10: g.(?_31789914)_(31790880_?)del deletion Likely pathogenic GRCh37 Chromosome 11, 31811462: 31812428
35 PAX6 NM_000280.4(PAX6): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31806409: 31806409
36 PAX6 NM_000280.4(PAX6): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31827957: 31827957
37 PAX6 NM_000280.4(PAX6): c.114_121delGCCGTGCG (p.Pro39Hisfs) deletion Pathogenic GRCh38 Chromosome 11, 31802724: 31802731
38 PAX6 NM_000280.4(PAX6): c.114_121delGCCGTGCG (p.Pro39Hisfs) deletion Pathogenic GRCh37 Chromosome 11, 31824272: 31824279
39 PAX6 NM_000280.4(PAX6): c.238_241dup (p.Pro81Hisfs) duplication Pathogenic GRCh38 Chromosome 11, 31801677: 31801680
40 PAX6 NM_000280.4(PAX6): c.238_241dup (p.Pro81Hisfs) duplication Pathogenic GRCh37 Chromosome 11, 31823225: 31823228
41 PAX6 NM_000280.4(PAX6): c.325G> T (p.Glu109Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31801593: 31801593
42 PAX6 NM_000280.4(PAX6): c.325G> T (p.Glu109Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31823141: 31823141
43 PAX6 NM_000280.4(PAX6): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31794774: 31794774
44 PAX6 NM_000280.4(PAX6): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31816322: 31816322
45 PAX6 NM_000280.4(PAX6): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31793748: 31793748
46 PAX6 NM_000280.4(PAX6): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31815296: 31815296
47 PAX6 NM_000280.4(PAX6): c.1183+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31790709: 31790709
48 PAX6 NM_000280.4(PAX6): c.1183+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31812257: 31812257
49 PAX6 NM_000280.4(PAX6): c.-128-2delA deletion Pathogenic rs1131692282 GRCh38 Chromosome 11, 31806927: 31806927
50 PAX6 NM_000280.4(PAX6): c.-128-2delA deletion Pathogenic rs1131692282 GRCh37 Chromosome 11, 31828475: 31828475

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 9.95 FOXC1 FSHB IGF2 PAX3 PAX6 PITX2
2 transcription by RNA polymerase II GO:0006366 9.8 FOXC1 FOXE3 PAX3 PAX6 PITX2 WT1
3 animal organ morphogenesis GO:0009887 9.67 IGF2 PAX3 PAX6
4 anatomical structure morphogenesis GO:0009653 9.65 FOXC1 FOXE3 PITX2
5 kidney development GO:0001822 9.63 CAT FOXC1 WT1
6 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
7 ureteric bud development GO:0001657 9.43 CAT FOXC1 WT1
8 lacrimal gland development GO:0032808 9.37 FOXC1 PAX6
9 eye development GO:0001654 9.33 FOXC1 FOXE3 PAX6
10 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
11 camera-type eye development GO:0043010 9.02 FOXC1 FOXE3 PAX6 PITX2 WT1
12 regulation of transcription, DNA-templated GO:0006355 10.05 FOXC1 FOXE3 IGF2 PAX3 PAX6 PITX2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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