AN3
MCID: ANR046
MIFTS: 21

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 57 75 6
An3 57 75

Characteristics:

OMIM:

57
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:

32
aniridia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617142
MeSH 44 D015783

Summaries for Aniridia 3

UniProtKB/Swiss-Prot : 75 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 Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are cataract and progressive visual loss

Description from OMIM: 617142

Related Diseases for Aniridia 3

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
glaucoma (in some patients)
decreased visual acuity, progressive
bilateral defects of the iris


Clinical features from OMIM:

617142

Human phenotypes related to Aniridia 3:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 progressive visual loss 32 HP:0000529
3 glaucoma 32 occasional (7.5%) HP:0000501

Drugs & Therapeutics for Aniridia 3

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

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

Interventional clinical trials:

(show all 13)
# 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 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
5 Dose Escalation Study of Minnelide in Relapsed or Refractory Acute Myeloid Leukemia Not yet recruiting NCT03760523 Phase 1 Minnelide
6 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Unknown status NCT02240745
7 Pulmonary Hypertension: Efficacy of a 3 Week Inpatient Rehabilitation on Physical Condition, Body Composition and Health Related Quality of Life Unknown status NCT01650857
8 Natural Killer (NK) Cells Following Bariatric Surgery Unknown status NCT02732535
9 Randomized Controlled Trial of Insulin Versus Tablets for Latent Autoimmune Diabetes in Adults (LADA) Unknown status NCT00776607 Not Applicable NovoMix 30;Tablet treatment
10 Evaluation of Exercise Tolerance and Cardiac Output in Patients With Heart Failure After Intervention of Rehabilitation Program Completed NCT02928783 Not Applicable
11 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
12 Effect of High-calcium Intake on Substrate Metabolism During Exercise Completed NCT01779245 Not Applicable
13 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:

41
Eye

Publications for Aniridia 3

Articles related to Aniridia 3:

(show all 14)
# 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
Transcription co-activator Arabidopsis ANGUSTIFOLIA3 (AN3) regulates water-use efficiency and drought tolerance by modulating stomatal density and improving root architecture by the transrepression of YODA (YDA). ( 25599980 )
2015
6
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
7
A novel and complete gene cluster involved in the degradation of aniline by Delftia sp. AN3. ( 18763567 )
2008
8
Degradation of aniline by newly isolated, extremely aniline-tolerant Delftia sp. AN3. ( 11956754 )
2002
9
Nuclear export of the DEAD box An3 protein by CRM1 is coupled to An3 helicase activity. ( 10766770 )
2000
10
An3 protein encoded by a localized maternal mRNA in Xenopus laevis is an ATPase with substrate-specific RNA helicase activity. ( 9048887 )
1997
11
Changes in nuclear localization of An3, a RNA helicase, during oogenesis and embryogenesis in Xenopus laevis. ( 8956288 )
1996
12
An3 mRNA encodes an RNA helicase that colocalizes with nucleoli in Xenopus oocytes in a stage-specific manner. ( 8134348 )
1994
13
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
14
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:

75
# 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 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
45 MESH via Orphanet
46 MGI
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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