MCID: ANR046
MIFTS: 22

Aniridia 3

Categories: Genetic diseases, Rare diseases, Eye 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 stomatitis. 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 nk cells, testes and heart, 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

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

# Related Disease Score Top Affiliating Genes
1 stomatitis 10.0

Symptoms & Phenotypes for Aniridia 3

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 occasional (7.5%) HP:0000501
2 cataract 32 HP:0000518
3 progressive visual loss 32 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 5284616 6436030 46835353
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,Not Applicable,Early Phase 1
11 Immunosuppressive Agents Phase 1
12 topoisomerase I inhibitors Phase 1
13 Topoisomerase Inhibitors Phase 1
14
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
15
Dobutamine Approved 34368-04-2 36811
16
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
17
Metformin Approved Not Applicable 657-24-9 14219 4091
18
Rosiglitazone Approved, Investigational Not Applicable 122320-73-4 77999
19
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
20
Proflavine Approved Early Phase 1 92-62-6 7099
21 Adrenergic Agents
22 Adrenergic Agonists
23 Adrenergic beta-Agonists
24 Autonomic Agents
25 Neurotransmitter Agents
26 Peripheral Nervous System Agents
27 Protective Agents
28 Hypoglycemic Agents Not Applicable
29 insulin Not Applicable
30 Insulin aspart, insulin aspart protamine drug combination 30:70 Not Applicable
31 Insulin, Globin Zinc Not Applicable
32 Protamines Not Applicable
33 Antiviral Agents Not Applicable
34 Interferon Type I Not Applicable
35 Interferon-alpha Not Applicable
36 interferons Not Applicable
37 Bone Density Conservation Agents Not Applicable
38 Calcium, Dietary Not Applicable
39 Anti-Infective Agents, Local Early Phase 1
40 Calcium Supplement Nutraceutical 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 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Unknown status NCT02240745
6 Natural Killer (NK) Cells Following Bariatric Surgery Unknown status NCT02732535
7 Randomized Controlled Trial of Insulin Versus Tablets for Latent Autoimmune Diabetes in Adults (LADA) Unknown status NCT00776607 Not Applicable NovoMix 30;Tablet treatment
8 Evaluation of Exercise Tolerance and Cardiac Output in Patients With Heart Failure After Intervention of Rehabilitation Program Completed NCT02928783 Not Applicable
9 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
10 Effect of High-calcium Intake on Substrate Metabolism During Exercise Completed NCT01779245 Not Applicable
11 Testing of a Valsalva Assist Device (VAD) in Healthy Volunteers Performing a Valsalva Manoeuvre Completed NCT03298880 Not Applicable
12 Pulmonary Hypertension: Efficacy of a 3 Week Inpatient Rehabilitation on Physical Condition, Body Composition and Health Related Quality of Life Recruiting NCT01650857
13 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:

41
Nk Cells, Testes, Heart, Bone

Publications for Aniridia 3

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
Content
Loading form....