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 56 73 29 6
Aniridia 56 12 74 52 25 36 13 54 43 15 39
Congenital Aniridia 25 29 6
Cataract with Late-Onset Corneal Dystrophy 56 29
An1 56 73
an 56 73
Aniridia Ii, Formerly; An2, Formerly 56
Aniridia Ii, Formerly 56
Aniridia Type Ii 73
Aniridia, Type 1 39
Aplasia of Iris 12
An2, Formerly 56
Absent Iris 25
Irideremia 25
an-1 17
An2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
aniridia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12271
OMIM 56 106210
OMIM Phenotypic Series 56 PS106210
KEGG 36 H00635
ICD9CM 34 743.45
MeSH 43 D015783
NCIt 49 C84563
SNOMED-CT 67 69278003
ICD10 32 Q13.1
MedGen 41 C0003076
UMLS 71 C0003076

Summaries for Aniridia 1

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). People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

MalaCards based summary : Aniridia 1, also known as aniridia, is related to isolated aniridia and intraocular pressure quantitative trait locus. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Donepezil and Chlorpromazine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, and related phenotypes are cataract and opacification of the corneal stroma

Disease Ontology : 12 An iris disease that is characterized by a complete or partial absence of the colored part of the eye.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.

UniProtKB/Swiss-Prot : 73 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 : 74 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 13235)
# Related Disease Score Top Affiliating Genes
1 isolated aniridia 34.4 PAX6 FOXC1
2 intraocular pressure quantitative trait locus 32.1 PITX2 PAX6 FOXC1 CRYAA
3 cataract 32.0 WT1 PITX2 PAX6 FOXE3 FOXC1 ELP4
4 wilms tumor 1 31.9 WT1 PAX6 PAX3 LOC107982234
5 charge syndrome 31.9 PITX2 PAX6 PAX3
6 amblyopia 31.9 PAX6 FOXE3 CRYAA BDNF
7 astigmatism 31.9 KRT3 KRT12 CRYAA
8 anterior segment dysgenesis 4 31.9 PITX2 FOXC1 CRYAA
9 peters-plus syndrome 31.8 PITX2 PAX6 FOXE3 FOXC1 CRYAA
10 axenfeld-rieger syndrome 31.8 PITX2 PAX6 FOXE3 FOXC1 CRYAA
11 dopamine beta-hydroxylase deficiency 31.8 WT1 PAX6
12 waardenburg's syndrome 31.8 PAX6 PAX3 KIR2DS4
13 physical disorder 31.8 PITX2 PAX6 PAX3 CRYAA
14 anterior segment dysgenesis 31.7 PITX2 PAX6 FOXE3 FOXC1 CRYAA
15 microphthalmia 31.7 PITX2 PAX6 PAX3 FOXE3 ELP4 CRYAA
16 otopalatodigital syndrome, type ii 31.7 PITX2 FOXC1
17 tyrosinemia, type ii 31.7 KRT3 KRT12
18 corneal dystrophy, gelatinous drop-like 31.6 KRT3 KRT12
19 keratitis, hereditary 31.6 PITX2 PAX6 LOC106014249 KRT3 FOXE3 FOXC1
20 persistent hyperplastic primary vitreous 31.6 PITX2 PAX6 FOXE3 FOXC1
21 macular dystrophy, corneal 31.6 KRT3 KRT12
22 corneal dystrophy, thiel-behnke type 31.6 KRT3 KRT12
23 glaucoma 3, primary congenital, a 31.5 PITX2 PAX6 FOXE3 FOXC1
24 aniridia 2 31.5 PAX6 ELP4
25 gillespie syndrome 31.5 PITX2 PAX6 IMMP1L FOXC1 DNAJC24
26 nephrotic syndrome, type 4 31.5 WT1 LOC107982234
27 axenfeld-rieger syndrome, type 3 31.4 PITX2 PAX6 FOXE3 FOXC1 CRYAA
28 coloboma of macula 31.4 PITX2 PAX6 KIR2DS4 IMMP1L FOXE3 FOXC1
29 sclerocornea 31.4 PAX6 FOXE3 FOXC1 CRYAA
30 spinocerebellar ataxia 28 31.3 IMMP1L CRYAA
31 lens disease 31.3 PAX6 FOXE3 CRYAA
32 corneal dystrophy, avellino type 31.2 KRT3 KRT12
33 corneal disease 31.2 PITX2 PAX6 KRT3 KRT12 FOXE3 FOXC1
34 uveal disease 31.1 WT1 PAX6 CRYAA
35 coloboma of optic nerve 31.1 PAX6 IMMP1L DNAJC24 DCDC1
36 axenfeld-rieger syndrome, type 1 31.1 PITX2 PAX6 FOXE3 FOXC1 CRYAA
37 pathologic nystagmus 31.1 PAX6 DCDC1 CRYAA
38 axenfeld-rieger syndrome, type 2 31.0 PITX2 FOXC1
39 open-angle glaucoma 30.9 FOXC1 CRYAA BDNF
40 corneal dystrophy, lisch epithelial 30.9 KRT3 KRT12
41 corneal dystrophy, subepithelial mucinous 30.8 KRT12 CRYAA
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.8 WT1 PITX2 PAX6 LOC107982234 LOC106014249 IMMP1L
43 corneal dystrophy, reis-bucklers type 30.8 KRT3 KRT12
44 congenital aphakia 30.6 PAX6 FOXE3
45 intestinal atresia 30.4 PITX2 PAX6 FOXC1
46 orofacial cleft 30.2 PITX2 PAX6 PAX3 CRYAA
47 limbal stem cell deficiency 30.1 KRT3 KRT12
48 irregular astigmatism 30.0 KRT3 KRT12
49 benign epilepsy with centrotemporal spikes 29.9 PAX6 IMMP1L ELP4 DNAJC24 DCDC1 BDNF
50 juvenile glaucoma 29.9 PITX2 PAX6 FOXE3 FOXC1 CRYAA

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 opacification of the corneal stroma 31 HP:0007759
3 nystagmus 31 HP:0000639
4 glucose intolerance 31 HP:0001952
5 glaucoma 31 HP:0000501
6 polymicrogyria 31 HP:0002126
7 hypoplasia of the fovea 31 HP:0007750
8 hypoplasia of the corpus callosum 31 HP:0002079
9 aniridia 31 HP:0000526
10 optic nerve hypoplasia 31 HP:0000609
11 increased proinsulin:insulin ratio 31 HP:0031883

Symptoms via clinical synopsis from OMIM:

56
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 141)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4 120014-06-4 3152
2
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Lithium carbonate Approved Phase 4 554-13-2
6
Morphine Approved, Investigational Phase 4 57-27-2 5288826
7
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
8 Gastrointestinal Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Cholinesterase Inhibitors Phase 4
11 Cholinergic Agents Phase 4
12 Dopamine Agents Phase 4
13 Dopamine Antagonists Phase 4
14 Antiemetics Phase 4
15 Psychotropic Drugs Phase 4
16 Serotonin Uptake Inhibitors Phase 4
17 Antipsychotic Agents Phase 4
18 Analgesics Phase 4
19 Narcotics Phase 4
20 Analgesics, Opioid Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 10204 6013
23
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
24
Tamoxifen Approved Phase 3 10540-29-1 2733526
25
Fluorouracil Approved Phase 3 51-21-8 3385
26
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
27
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
28
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
29
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
30 Hormone Antagonists Phase 3
31 Hormones Phase 3
32 Insulin, Globin Zinc Phase 3
33 insulin Phase 3
34 Androgens Phase 3
35 taxane Phase 3
36 Antineoplastic Agents, Hormonal Phase 3
37 Estrogen Antagonists Phase 3
38 Albumin-Bound Paclitaxel Phase 3
39 Estrogen Receptor Antagonists Phase 3
40 Estrogen Receptor Modulators Phase 3
41 Estrogens Phase 3
42
Liposomal doxorubicin Phase 3 31703
43 Tubulin Modulators Phase 3
44 Cactinomycin Phase 3
45 Antimitotic Agents Phase 3
46
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
47
Lumefantrine Approved Phase 2 82186-77-4 6437380
48
Artemether Approved Phase 2 71963-77-4 68911 9796294 119380
49
Loperamide Approved Phase 2 53179-11-6 3955
50
leucovorin Approved Phase 2 58-05-9 6006 143

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Treatment With Donepezil of Chronic Aphasia and Sensorimotor Deficits Associated to Cerebrovascular Accidents: a Double-Blind,Placebo-Controlled, Randomized Parallel Trial. Completed NCT00196690 Phase 4 Donepezil
2 Comparison of Combination Olanzapine and Lithium and Combination Chlorpromazine and Lithium in the Treatment of a First Manic Episode With Psychotic Features. Completed NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
3 Neurotoxic Adverse Effects of Morphine and Oxycodone in Continuous Subcutaneous Infusion for Treatment of Pain in Terminal Patients With Diminished Renal Function: a Randomized Controlled Trial Terminated NCT03616639 Phase 4 Oxycodone;Morphine
4 A Randomised Placebo Controlled Study of Transdermal Testosterone Therapy to Investigate the Efficacy and Safety in Men With Abdominal Obesity, Low Testosterone Levels and Early Stages of the Metabolic Cluster Syndrome. Unknown status NCT00479609 Phase 3 Transdermal testosterone therapy;Placebo
5 A Randomized Study of Chemotherapy Versus Hormonal Treatment in Patients With Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3 Tamoxifen;Chemotherapy
6 Physical Activity and Breast Cancer Risk in Postmenopausal Women: the SHAPE Study Completed NCT00359060 Phase 3
7 An Open-label, Multicenter, Randomized, 3 Arm Study of S-1 Compared With S-1/CDDP, or S-1/CDDP Compared With 5-FU/CDDP in Patients With Advanced Gastric Cancer Previously Untreated With Chemotherapy for Advanced Disease Completed NCT00202969 Phase 3 S-1;S-1 plus CDDP;5-FU plus CDDP
8 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
9 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
10 Efficacy of Favipiravir Against Severe Ebola Virus Disease Completed NCT02662855 Phase 2 Favipiravir
11 Multicenter, Open-Label and Randomized Phase II Study to Evaluate Safety and Efficacy of the Trifunctional Bispecific Antibody Catumaxomab (Anti-EpCAM x Anti-CD3) in Patients After Curative Resection of a Confirmed Gastric Adenocarcinoma Compared With Surgery Alone Completed NCT00352833 Phase 2 catumaxomab
12 A Randomized Phase II Study of Docetaxel in Combination With Oxaliplatin With or Without 5-FU or Capecitabine in Metastatic or Locally Recurrent Gastric Cancer Previously Untreated With Chemotherapy for Advanced Disease Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
13 Safety Issue and Efficacy Study of Combining Mix Vaccine and Standard Therapy in the Treatment of Prostate Carcinoma Patient Completed NCT02338700 Phase 1, Phase 2
14 Safety Issue and Efficacy of Combining Mix Vaccine and Standard Therapy in the Treatment of Lung Carcinoma Patient Completed NCT02333474 Phase 1, Phase 2
15 Safety Issue and Efficacy Study of Combining Mix Vaccine and Standard Therapy in the Treatment of Breast Carcinoma Patient Completed NCT02338804 Phase 1, Phase 2
16 Safety Issue and Efficacy Study of Combining Mix Vaccine and Standard Therapy in the Treatment of Hepatocyte Carcinoma Patient Completed NCT02338778 Phase 1, Phase 2
17 Safety Issue and Efficacy Study of Combining Mix Vaccine and Standard Therapy in the Treatment of Pancreatic Carcinoma Patient Completed NCT02338752 Phase 1, Phase 2
18 A Dose Response Trial Using 5 and 10 mg. of Midodrine Hydrochloride to Treat Orthostatic Hypotension in Persons With SCI Completed NCT00426842 Phase 2 Midodrine Hydrochloride
19 Early Treatment of Borderline Pulmonary Arterial Hypertension Associated With Systemic Sclerosis (SSc-APAH) A Randomized, Controlled, Double-blind, Parallel Group, Proof-of-concept Trial EDITA Completed NCT02290613 Phase 2 Ambrisentan;Placebo
20 18-Month Double-Blind, Placebo-Controlled Study of Curcumin Completed NCT01383161 Phase 2 Curcumin
21 Translational Stem Cell Research in Ophthalmology - Regenerating the Anterior Cornea Through Standardized Transplantation of Limbal Epithelial Stem Cells: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
22 A Clinical Trial of Nitrous Oxide for Treatment-Resistant Major Depressive Disorder Recruiting NCT03932825 Phase 2 Nitrous Oxide;Placebo
23 A Phase Ib/II, Open-Label, Multicenter, Randomized Umbrella 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 (MORPHEUS-mUC) Recruiting NCT03869190 Phase 1, Phase 2 Atezolizumab;Enfortumab Vedotin;Niraparib;Hu5F9-G4;Tiragolumab;Linagliptin;Tocilizumab
24 STAR: A Phase 2, Multicenter, Randomized, Double-Masked, Placebo-Controlled Study of the Safety and Efficacy of Ataluren (PTC124) for the Treatment of Nonsense Mutation Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
25 Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome Enrolling by invitation NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
26 Nonsense Mutation Aniridia: An Ataluren (PTC124) Phase 2 Extension Study Withdrawn NCT04117880 Phase 2 Ataluren
27 An Open Label, Dose Escalation, Safety and Pharmacokinetic Phase 1 Study With AVE8062 Administered as a 30 Minutes Intravenous Infusion Followed by Docetaxel Administered as an 1 Hour Intravenous Infusion 24 Hours-Apart Every 3 Weeks in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
28 A Phase 1, Sequential Cohort, Open-Label, Dose-Escalation Study of the Safety and CNS Exposure of Pritumumab in Patients With Brain Cancer Not yet recruiting NCT04396717 Phase 1
29 Effect Of Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration and Blood Flow Unknown status NCT03137680
30 Positive Angle Kappa: a Sign in Aniridia Completed NCT01644552
31 Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture Completed NCT03581864
32 Phenotype-Genotype Correlation in Aniridia Completed NCT00265590
33 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
34 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161
35 Diagnostic Imaging for Intraoperative Floppy Iris Syndrome Completed NCT01252472
36 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
37 Evaluation of the Acrysof Toric SN60T3 Intraocular Lens in Patients With Predicted Residual Corneal Astigmatism Between 0.75 and 1.00 D. Completed NCT00542581
38 Validation of a Novel Oxygen Consumption Measurement Technique in Neonates Completed NCT03154112
39 The Effect of Conscious Sedation on Salivary Alpha-Amylase Levels in the Patients Undergoing Impacted Third Molar Surgery Completed NCT04207515
40 Introduction of an 1-hour Algorithm for High-sensitivity Cardiac-specific Troponin T for Faster Assessment of NSTEMI in a Low-prevalence Population at Oslo Accident and Emergency Outpatient Clinic Completed NCT02983123
41 Promoting Lifestyle Changes With Mobile Health Technologies for Overweight or Obese Adults With Type 2 Diabetes - Feasibility and Acceptability Study Completed NCT03398590
42 A Randomized Comparison Between 1 Plane - 1 Injection (Cluster Approach) and 2 Plane - 2 Injection Ultrasound-guided Supraclavicular Brachial Plexus Block (US-SCBPB) in Upper Extremity Surgery Completed NCT02505633 lidocaine mixed with epinephrine
43 A Randomized, Controlled Cross Over Trial of Two Educational Methods and Their Additive Effects in the Recognition of Abnormal Peripheral Blood Smears Completed NCT02435316
44 Rehabilitation of IPF Patients: Effects of Exercise and Oxidant Stress Completed NCT01118221
45 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease: A Randomized Control Study. Completed NCT01573260 Early Phase 1
46 A Randomized, Controlled, Cross-over Trial Investigating the Impact of a High-protein Diet on Energy Metabolism in Healthy Men Completed NCT03565510
47 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 Timing of Glaucoma Drainage Device Implantation With Boston Keratoprosthesis Surgery Recruiting NCT02084745
49 The Impact of Mobile APP Intervention ( iCKD APP) on Chronic Kidney Disease Care: A Multicenter, Randomized, Open, Controlled Trial Recruiting NCT03649516
50 Feasibility and Security of a Rapid Rule-out and rule-in Troponin Protocol in the Management of NSTEMI in an Emergency Departement. Recruiting NCT03668587

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:

40
Eye, Brain, Kidney, Endothelial, Breast, Pineal, Liver

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 1451)
# Title Authors PMID Year
1
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 54 61 6 56
17595013 2007
2
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 56 6 54 61
17406642 2007
3
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 54 61 56 6
11826019 2002
4
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 6 56 54 61
11553050 2001
5
PAX6 mutations reviewed. 61 56 54 6
9482572 1998
6
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 56 6 54 61
7951315 1994
7
The human PAX6 gene is mutated in two patients with aniridia. 61 54 56 6
1302030 1992
8
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 56 6 61
17148041 2006
9
Molecular analysis of a human PAX6 homeobox mutant. 61 6 56
16493447 2006
10
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 6 56 61
8689689 1996
11
Three novel aniridia mutations in the human PAX6 gene. 61 56 6
7550230 1995
12
Anterior segment dysgenesis keratolenticular adhesion and aniridia. 6 56 61
6988567 1980
13
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. 56 6
19876904 2009
14
Heterozygous mutations of OTX2 cause severe ocular malformations. 6 56
15846561 2005
15
Congenital central corneal leukoma (Peters' anomaly). 56 6
1251879 1976
16
Pax6 3' deletion results in aniridia, autism and mental retardation. 56 61 54
18322702 2008
17
Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. 54 61 56
16543198 2006
18
Missense mutations in the DNA-binding region and termination codon in PAX6. 6 54 61
12552561 2003
19
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. 56 54 61
12386836 2002
20
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. 56 54 61
11431688 2001
21
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. 61 54 56
11479730 2001
22
3' deletions cause aniridia by preventing PAX6 gene expression. 54 61 56
11087823 2000
23
Prenatal diagnosis of aniridia. 54 61 56
10857836 2000
24
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. 56 54 61
9138149 1997
25
A new PAX6 mutation in familial aniridia. 6 61 54
7666404 1995
26
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. 61 54 56
7795596 1995
27
Mutations in the PAX6 gene in patients with hereditary aniridia. 61 54 6
8111379 1993
28
PAX6 mutations in aniridia. 61 56 54
8364574 1993
29
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. 56 61 54
8478003 1993
30
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. 54 61 56
1334370 1992
31
Mouse small eye results from mutations in a paired-like homeobox-containing gene. 56 61 54
1684639 1991
32
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. 56 61 54
1684738 1991
33
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 6 61
24290376 2013
34
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. 61 56
21321669 2011
35
Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea. 56 61
16638998 2006
36
Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. 61 56
14962429 2004
37
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. 56 61
12714618 2003
38
PAX6-Related Aniridia 61 6
20301534 2003
39
Use of glaucoma drainage devices in the management of glaucoma associated with aniridia. 61 56
12566018 2003
40
Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. 61 56
12511357 2003
41
Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. 56 61
11481423 2001
42
Six3, a medaka homologue of the Drosophila homeobox gene sine oculis is expressed in the anterior embryonic shield and the developing eye. 61 6
9651515 1998
43
FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). 61 56
8825052 1996
44
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. 61 56
7914031 1994
45
Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13. 61 56
1505982 1992
46
A mouse model of the aniridia-Wilms tumor deletion syndrome. 61 56
2173141 1990
47
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). 56 61
2347591 1990
48
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. 56 61
2817003 1989
49
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. 61 56
2544995 1989
50
Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. 56 61
2575483 1989

Variations for Aniridia 1

ClinVar genetic disease variations for Aniridia 1:

6 (show top 50) (show all 358) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.141+1G>CSNV Pathogenic 438712 rs1554985714 11:31824251-31824251 11:31802703-31802703
2 PAX6 NM_000280.4(PAX6):c.1183+1G>ASNV Pathogenic 492996 rs1554982537 11:31812257-31812257 11:31790709-31790709
3 PAX6 NM_000280.4(PAX6):c.820C>T (p.Gln274Ter)SNV Pathogenic 492995 rs1554983229 11:31815296-31815296 11:31793748-31793748
4 PAX6 NM_000280.4(PAX6):c.538C>T (p.Gln180Ter)SNV Pathogenic 492994 rs1554983571 11:31816322-31816322 11:31794774-31794774
5 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter)SNV Pathogenic 492993 rs1554985305 11:31823141-31823141 11:31801593-31801593
6 PAX6 NM_001310160.1(PAX6):c.-502_-499dupduplication Pathogenic 492992 rs1554985378 11:31823224-31823225 11:31801676-31801677
7 PAX6 NM_001310160.1(PAX6):c.-668_-661deldeletion Pathogenic 492991 rs1554985737 11:31824272-31824279 11:31802724-31802731
8 PAX6 NM_000280.4(PAX6):c.3G>T (p.Met1Ile)SNV Pathogenic 492990 rs1554986754 11:31827957-31827957 11:31806409-31806409
9 PAX6 NM_000280.4(PAX6):c.-52+3_-52+6delinsTGindel Pathogenic 559618 rs1565264372 11:31828391-31828394 11:31806843-31806846
10 PAX6 NM_000280.4(PAX6):c.-52+5deldeletion Pathogenic 559619 rs1565264387 11:31828392-31828392 11:31806844-31806844
11 PAX6 NM_000280.4(PAX6):c.-52+3_-52+4deldeletion Pathogenic 559617 rs1565264399 11:31828393-31828394 11:31806845-31806846
12 PAX6 NM_000280.4(PAX6):c.-129+1G>ASNV Pathogenic 559615 rs1565277245 11:31832375-31832375 11:31810827-31810827
13 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs)duplication Pathogenic 567776 rs1565245598 11:31824278-31824279 11:31802730-31802731
14 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACCindel Pathogenic 565950 rs1565245835 11:31824287-31824291 11:31802739-31802743
15 PAX6 NM_000280.4(PAX6):c.1033-1G>ASNV Pathogenic 800470 11:31812409-31812409 11:31790861-31790861
16 PAX6 NM_000280.4(PAX6):c.917-1G>CSNV Pathogenic 800467 11:31815102-31815102 11:31793554-31793554
17 PAX6 NM_000280.4(PAX6):c.917-1G>ASNV Pathogenic 800466 11:31815102-31815102 11:31793554-31793554
18 PAX6 NM_000280.4(PAX6):c.916+1G>TSNV Pathogenic 800463 11:31815199-31815199 11:31793651-31793651
19 PAX6 NM_000280.4(PAX6):c.916+1G>ASNV Pathogenic 800462 11:31815199-31815199 11:31793651-31793651
20 PAX6 NM_000280.4(PAX6):c.766-1G>CSNV Pathogenic 800453 11:31815351-31815351 11:31793803-31793803
21 PAX6 NM_000280.4(PAX6):c.766-1G>ASNV Pathogenic 800454 11:31815351-31815351 11:31793803-31793803
22 PAX6 NM_001604.5(PAX6):c.347T>A (p.Ile116Asn)SNV Pathogenic 617617 rs1565238322 11:31823161-31823161 11:31801613-31801613
23 PAX6 NM_019040.5(ELP4):c.*6412dupduplication Pathogenic 692032 11:31811483-31811484 11:31789935-31789936
24 PAX6 NM_019040.5(ELP4):c.*6496C>GSNV Pathogenic 800478 11:31811568-31811568 11:31790020-31790020
25 PAX6 NM_000280.4(PAX6):c.524-14_525deldeletion Pathogenic 800441 11:31816335-31816350 11:31794787-31794802
26 PAX6 NM_000280.4(PAX6):c.524-1G>ASNV Pathogenic 800443 11:31816337-31816337 11:31794789-31794789
27 PAX6 NM_000280.4(PAX6):c.524-2A>GSNV Pathogenic 800442 11:31816338-31816338 11:31794790-31794790
28 PAX6 NM_000280.4(PAX6):c.358-1G>ASNV Pathogenic 800431 11:31822405-31822405 11:31800857-31800857
29 PAX6 NM_000280.4(PAX6):c.358-2A>GSNV Pathogenic 800430 11:31822406-31822406 11:31800858-31800858
30 PAX6 NM_000280.4(PAX6):c.357_357+5deldeletion Pathogenic 800428 11:31823104-31823109 11:31801556-31801561
31 PAX6 NM_000280.4(PAX6):c.142-1_153dupduplication Pathogenic 800403 11:31823312-31823313 11:31801764-31801765
32 PAX6 NM_000280.4(PAX6):c.142-1G>ASNV Pathogenic 800402 11:31823325-31823325 11:31801777-31801777
33 PAX6 NM_000280.4(PAX6):c.142-2A>GSNV Pathogenic 800404 11:31823326-31823326 11:31801778-31801778
34 PAX6 NM_000280.4(PAX6):c.141+4A>TSNV Pathogenic 800401 11:31824248-31824248 11:31802700-31802700
35 PAX6 NM_000280.4(PAX6):c.11-2A>GSNV Pathogenic 800382 11:31824384-31824384 11:31802836-31802836
36 PAX6 NM_000280.4(PAX6):c.-52+1G>ASNV Pathogenic 800380 11:31828396-31828396 11:31806848-31806848
37 PAX6 NM_000280.4(PAX6):c.-138_-129+3deldeletion Pathogenic 800379 11:31832373-31832385 11:31810825-31810837
38 PAX6 NM_000280.4(PAX6):c.847_848dup (p.Ser283fs)duplication Pathogenic 3459 rs1565200471 11:31815267-31815268 11:31793719-31793720
39 PAX6 PAX6, EXON G DELdeletion Pathogenic 3460
40 PAX6 NM_001310160.1(PAX6):c.-3C>TSNV Pathogenic 3461 rs121907912 11:31822356-31822356 11:31800808-31800808
41 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
42 PAX6 NC_000011.9:g.(?_31284590)_(32456911_?)deldeletion Pathogenic 583750 11:31284590-32456911
43 PAX6 NM_000280.4(PAX6):c.371del (p.Asn124fs)deletion Pathogenic 279861 rs886041221 11:31822391-31822391 11:31800843-31800843
44 PAX6 NM_000280.4(PAX6):c.916+1G>CSNV Pathogenic 372442 rs1057517783 11:31815199-31815199 11:31793651-31793651
45 PAX6 NM_000280.4(PAX6):c.949C>T (p.Arg317Ter)SNV Pathogenic 372444 rs1057517785 11:31815069-31815069 11:31793521-31793521
46 PAX6 NM_000280.4(PAX6):c.358delGdeletion Pathogenic 284286 rs886042838 11:31822404-31822404 11:31800856-31800856
47 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
48 PAX6 NC_000011.8:g.31779000_31933000del154001deletion Pathogenic 267193 11:31822424-31976424
49 DNAJC24 , ELP4 , IMMP1L , LOC105980005 , LOC105980073 , PAX6DRR , PAX6_HS8 NC_000011.8:g.31379000_31708000del329001deletion Pathogenic 267199 11:31422424-31751424 11:31400877-31729876
50 DCDC1 , DNAJC24 , ELP4 , IMMP1L , LOC105980003 , LOC105980005 , LOC105980073 , PAX6DRR , PAX6_HS8 NC_000011.8:g.31234395_31751815del517421deletion Pathogenic 267198 11:31277819-31795239 11:31256273-31773692

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

73 (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

Copy number variations for Aniridia 1 from CNVD:

7
# CNVD ID Chromosome 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 PITX2 PAX6 PAX3 FOXC1 ELP4

GO Terms for Aniridia 1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 WT1 PITX2 PAX6 FOXE3 FOXC1 ELP4
2 anatomical structure morphogenesis GO:0009653 9.63 PITX2 FOXE3 FOXC1
3 eye development GO:0001654 9.43 PAX6 FOXE3 FOXC1
4 cornea development in camera-type eye GO:0061303 9.4 PAX6 FOXE3
5 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
6 ureteric bud development GO:0001657 9.33 WT1 FOXC1 BDNF
7 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
8 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
9 camera-type eye development GO:0043010 9.02 WT1 PITX2 PAX6 FOXE3 FOXC1

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 9.73 WT1 PITX2 PAX6 PAX3 FOXE3 FOXC1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 WT1 PITX2 PAX6 PAX3 FOXE3 FOXC1
3 HMG box domain binding GO:0071837 9.16 PAX6 PAX3
4 sequence-specific DNA binding GO:0043565 9.1 WT1 PITX2 PAX6 PAX3 FOXE3 FOXC1

Sources for Aniridia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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