AN3
MCID: ANR046
MIFTS: 29

Aniridia 3 (AN3)

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

Aliases & Classifications for Aniridia 3

MalaCards integrated aliases for Aniridia 3:

Name: Aniridia 3 58 76 6
An3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive decreased visual acuity due to gradual development of cataract caused by exposure to sun
based on report of one 4-generation chinese family (last curated october 2016)


HPO:

33
aniridia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617142
MeSH 45 D015783

Summaries for Aniridia 3

UniProtKB/Swiss-Prot : 76 Aniridia 3: A form of aniridia, 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.

MalaCards based summary : Aniridia 3, also known as an3, is related to endometrial adenocarcinoma and adenocarcinoma. An important gene associated with Aniridia 3 is TRIM44 (Tripartite Motif Containing 44). The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are glaucoma and cataract

Description from OMIM: 617142

Related Diseases for Aniridia 3

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3
Pax6-Related Aniridia

Diseases related to Aniridia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endometrial adenocarcinoma 10.1
2 adenocarcinoma 10.1

Symptoms & Phenotypes for Aniridia 3

Human phenotypes related to Aniridia 3:

33
# Description HPO Frequency HPO Source Accession
1 glaucoma 33 occasional (7.5%) HP:0000501
2 cataract 33 HP:0000518
3 progressive visual loss 33 HP:0000529

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
glaucoma (in some patients)
decreased visual acuity, progressive
bilateral defects of the iris

Clinical features from OMIM:

617142

Drugs & Therapeutics for Aniridia 3

Drugs for Aniridia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Immunologic Factors Phase 4,Phase 1,Not Applicable
3 Pharmaceutical Solutions Phase 4
4
Simvastatin Approved Phase 3 79902-63-9 54454
5
Ezetimibe Approved Phase 3 163222-33-1 150311
6 Anticholesteremic Agents Phase 3
7 Lipid Regulating Agents Phase 3
8 Antimetabolites Phase 3
9 Hypolipidemic Agents Phase 3
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
11
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
12
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
13
Topotecan Approved, Investigational Phase 1 123948-87-8, 119413-54-6 60700
14
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
15 Anti-Bacterial Agents Phase 1
16 Immunosuppressive Agents Phase 1
17 Anti-Infective Agents Phase 1,Not Applicable
18 Topoisomerase Inhibitors Phase 1
19 Antibiotics, Antitubercular Phase 1
20 topoisomerase I inhibitors Phase 1
21 Antifungal Agents Phase 1
22 Tin Fluorides Phase 1
23
Atropine Approved, Vet_approved 51-55-8, 5908-99-6 174174
24
Dobutamine Approved 34368-04-2 36811
25
Rosiglitazone Approved, Investigational Not Applicable 122320-73-4 77999
26
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
27
Metformin Approved Not Applicable 657-24-9 14219 4091
28
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
29
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
30 Protective Agents
31 Cardiotonic Agents
32 Adrenergic Agents
33 Autonomic Agents
34 Adrenergic Agonists
35 Sympathomimetics
36 Neurotransmitter Agents
37 Adrenergic beta-Agonists
38 Peripheral Nervous System Agents
39 Hypoglycemic Agents Not Applicable
40 Protamines Not Applicable
41 Insulin aspart, insulin aspart protamine drug combination 30:70 Not Applicable
42 insulin Not Applicable
43 Insulin, Globin Zinc Not Applicable
44 Interferon alpha-2 Not Applicable
45 Interferon-alpha Not Applicable
46 Interferon Type I Not Applicable
47 interferons Not Applicable
48 Antiviral Agents Not Applicable
49 Bone Density Conservation Agents Not Applicable
50 Hormones Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
2 A Multicenter Study of Iomeron®-400 Used With Multi-detector Computed Tomography Angiography (MDCTA) Completed NCT02596048 Phase 4
3 Evaluation of an 3D Imaging Intensifier Coupled to a Navigation Station in the Surgery of the Spine and Pelvis Completed NCT01335841 Phase 3
4 A Study of SCH 58235 (Ezetimibe) When Added to Ongoing Therapy With a Statin in Participants With Primary Hypercholesterolemia, Known Coronary Heart Disease, or Multiple Cardiovascular Risk Factors (P02173) Completed NCT03882905 Phase 3 Ezetimibe;Placebo;Simivastatin;Statin
5 Study of the Weekly Oral RAD001 in Combination With Oral Topotecan in Patients With Advanced or Recurrent Endometrial Cancers Completed NCT00703807 Phase 1 Topotecan;RAD001
6 Dose Escalation Study of Minnelide in Relapsed or Refractory Acute Myeloid Leukemia Not yet recruiting NCT03760523 Phase 1 Minnelide
7 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Unknown status NCT02240745
8 Pulmonary Hypertension: Efficacy of a 3 Week Inpatient Rehabilitation on Physical Condition, Body Composition and Health Related Quality of Life Unknown status NCT01650857
9 Natural Killer (NK) Cells Following Bariatric Surgery Unknown status NCT02732535
10 Randomized Controlled Trial of Insulin Versus Tablets for Latent Autoimmune Diabetes in Adults (LADA) Unknown status NCT00776607 Not Applicable NovoMix 30;Tablet treatment
11 Evaluation of Exercise Tolerance and Cardiac Output in Patients With Heart Failure After Intervention of Rehabilitation Program Completed NCT02928783 Not Applicable
12 Double-Blind, Randomized, Dose Ranging Study of Alferon LDO (Low Dose Oral Interferon Alfa-n3 (Human Leukocyte Derived)) in HIV+ Subjects Completed NCT00002018 Not Applicable Interferon alfa-n3
13 Effect of High-calcium Intake on Substrate Metabolism During Exercise Completed NCT01779245 Not Applicable
14 Testing of a Valsalva Assist Device (VAD) in Healthy Volunteers Performing a Valsalva Manoeuvre Completed NCT03298880 Not Applicable

Search NIH Clinical Center for Aniridia 3

Genetic Tests for Aniridia 3

Anatomical Context for Aniridia 3

MalaCards organs/tissues related to Aniridia 3:

42
Heart, Bone, Testes, Myeloid, Nk Cells

Publications for Aniridia 3

Articles related to Aniridia 3:

(show all 13)
# Title Authors Year
1
Arabidopsis ANGUSTIFOLIA3 (AN3) is associated with the promoter of CONSTITUTIVE PHOTOMORPHOGENIC1 (COP1) to regulate light-mediated stomatal development. ( 29645276 )
2018
2
Soluble Sugar Accumulation Can Influence Seed Size via AN3-YDA Gene Cascade. ( 28489361 )
2017
3
Corrigendum: Seed Embryo Development Is Regulated via an AN3-MINI3 Gene Cascade. ( 28616014 )
2017
4
Seed Embryo Development Is Regulated via an AN3-MINI3 Gene Cascade. ( 27857719 )
2016
5
Dissociation of diglycolamide complexes of Ln3+ (Ln = La-Lu) and An3+ (An = Pu, Am, Cm): redox chemistry of 4f and 5f elements in the gas phase parallels solution behavior. ( 25372998 )
2014
6
A novel and complete gene cluster involved in the degradation of aniline by Delftia sp. AN3. ( 18763567 )
2008
7
Degradation of aniline by newly isolated, extremely aniline-tolerant Delftia sp. AN3. ( 11956754 )
2002
8
Nuclear export of the DEAD box An3 protein by CRM1 is coupled to An3 helicase activity. ( 10766770 )
2000
9
An3 protein encoded by a localized maternal mRNA in Xenopus laevis is an ATPase with substrate-specific RNA helicase activity. ( 9048887 )
1997
10
Changes in nuclear localization of An3, a RNA helicase, during oogenesis and embryogenesis in Xenopus laevis. ( 8956288 )
1996
11
An3 mRNA encodes an RNA helicase that colocalizes with nucleoli in Xenopus oocytes in a stage-specific manner. ( 8134348 )
1994
12
Growth of the endometrial adenocarcinoma cell line AN3 CA is modulated by tumor necrosis factor and its receptor is up-regulated by estrogen in vitro. ( 1312427 )
1992
13
A two-element system controls instability at the An3 locus in Petunia hybrida. ( 24252916 )
1985

Variations for Aniridia 3

UniProtKB/Swiss-Prot genetic disease variations for Aniridia 3:

76
# Symbol AA change Variation ID SNP ID
1 TRIM44 p.Gly155Arg VAR_077853 rs886039241

ClinVar genetic disease variations for Aniridia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM44 NM_017583.5(TRIM44): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs886039241 GRCh38 Chromosome 11, 35663574: 35663574
2 TRIM44 NM_017583.5(TRIM44): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs886039241 GRCh37 Chromosome 11, 35685122: 35685122

Expression for Aniridia 3

Search GEO for disease gene expression data for Aniridia 3.

Pathways for Aniridia 3

GO Terms for Aniridia 3

Sources for Aniridia 3

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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