MCID: ANR046
MIFTS: 22

Aniridia 3

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Aniridia 3

MalaCards integrated aliases for Aniridia 3:

Name: Aniridia 3 53 71
An3 53 71

Characteristics:

OMIM:

53
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:

31
aniridia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 617142
MeSH 41 D015783

Summaries for Aniridia 3

UniProtKB/Swiss-Prot : 71 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 aniridia 1, and has symptoms including glaucoma, cataract and progressive visual loss. An important gene associated with Aniridia 3 is TRIM44 (Tripartite Motif Containing 44). The drugs Vaccines and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone.

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 aniridia 1 9.7

Symptoms & Phenotypes for Aniridia 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
decreased visual acuity, progressive
bilateral defects of the iris
cataract
glaucoma (in some patients)


Clinical features from OMIM:

617142

Human phenotypes related to Aniridia 3:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 occasional (7.5%) HP:0000501
2 cataract 31 HP:0000518
3 progressive visual loss 31 HP:0000529

Drugs & Therapeutics for Aniridia 3

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Pharmaceutical Solutions Phase 4
3
Everolimus Approved Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
6
Topotecan Approved, Investigational Phase 1 119413-54-6, 123948-87-8 60700
7 Anti-Bacterial Agents Phase 1
8 Antibiotics, Antitubercular Phase 1
9 Antifungal Agents Phase 1
10 Anti-Infective Agents Phase 1,Early Phase 1
11 Immunosuppressive Agents Phase 1
12 topoisomerase I inhibitors Phase 1
13 Topoisomerase Inhibitors Phase 1
14
Insulin Aspart Approved 116094-23-6 16132418
15
Metformin Approved 657-24-9 4091 14219
16
Rosiglitazone Approved, Investigational 122320-73-4 77999
17
Zinc Approved, Investigational 7440-66-6 32051 23994
18
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
19
Dobutamine Approved 34368-04-2 36811
20
Proflavine Approved Early Phase 1 92-62-6 7099
21 Hypoglycemic Agents
22 insulin
23 Insulin aspart, insulin aspart protamine drug combination 30:70
24 Insulin, Globin Zinc
25 Protamines
26 Antiviral Agents
27 Interferon Type I
28 Interferon-alpha
29 interferons
30 Bone Density Conservation Agents
31 Calcium, Dietary
32 Adrenergic Agents
33 Adrenergic Agonists
34 Adrenergic beta-Agonists
35 Autonomic Agents
36 Neurotransmitter Agents
37 Peripheral Nervous System Agents
38 Protective Agents
39 Anti-Infective Agents, Local Early Phase 1
40 Calcium Supplement Nutraceutical

Interventional clinical trials:


# 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 Randomized Controlled Trial of Insulin Versus Tablets for Latent Autoimmune Diabetes in Adults (LADA) Unknown status NCT00776607 NovoMix 30;Tablet treatment
6 Double-Blind, Randomized, Dose Ranging Study of Alferon LDO (Low Dose Oral Interferon Alfa-n3 (Human Leukocyte Derived)) in HIV+ Subjects Completed NCT00002018 Interferon alfa-n3
7 Effect of High-calcium Intake on Substrate Metabolism During Exercise Completed NCT01779245
8 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Recruiting NCT02240745
9 Low-Cost Imaging for Cervical Cancer Prevention in the Texas Lower Rio Grande Valley Recruiting NCT02714439 Early Phase 1 Proflavine

Search NIH Clinical Center for Aniridia 3

Genetic Tests for Aniridia 3

Anatomical Context for Aniridia 3

MalaCards organs/tissues related to Aniridia 3:

38
Bone

Publications for Aniridia 3

Articles related to Aniridia 3:

# Title Authors Year
1
The transcription factor AtGRF5 and the transcription coactivator AN3 regulate cell proliferation in leaf primordia of Arabidopsis thaliana. ( 15960617 )
2005

Variations for Aniridia 3

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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