MCID: ANR046
MIFTS: 18

Aniridia 3

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia 3

MalaCards integrated aliases for Aniridia 3:

Name: Aniridia 3 54 71
An3 71

Characteristics:

OMIM:

54
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)


Classifications:



External Ids:

OMIM 54 617142
MedGen 40 CN238677
MeSH 42 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, is also known as an3. 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 family:

Aniridia 2 Aniridia 3

Symptoms & Phenotypes for Aniridia 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
cataract
decreased visual acuity, progressive
glaucoma (in some patients)
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 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Pharmaceutical Solutions Phase 4,Phase 1
3
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
4
Fluorouracil Approved Phase 3 51-21-8 3385
5
s 1 (combination) Phase 3
6
Everolimus Approved Phase 1 159351-69-6 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
9
Topotecan Approved, Investigational Phase 1 119413-54-6, 123948-87-8 60700
10
Docetaxel Approved May 1996, Investigational Phase 1 114977-28-5 148124 9877265
11 Anti-Bacterial Agents Phase 1
12 Antibiotics, Antitubercular Phase 1
13 Antifungal Agents Phase 1
14 Anti-Infective Agents Phase 1,Early Phase 1
15 Immunosuppressive Agents Phase 1
16 topoisomerase I inhibitors Phase 1
17 Topoisomerase Inhibitors Phase 1
18 Antimitotic Agents Phase 1
19
Insulin Aspart Approved 116094-23-6 16132418
20
Metformin Approved 657-24-9 14219 4091
21
Rosiglitazone Approved, Investigational 122320-73-4 77999
22
Zinc Approved 7440-66-6 32051 23994
23
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
24
Hydromorphone Approved, Illicit 466-99-9 5284570
25
Ropivacaine Approved 84057-95-4 71273 175805
26
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
27
Dobutamine Approved 34368-04-2 36811
28
Proflavine Approved Early Phase 1 92-62-6 7099
29 Hypoglycemic Agents
30 insulin
31 Insulin aspart, insulin aspart protamine drug combination 30:70
32 Insulin, Globin Zinc
33 Protamines
34 Antiviral Agents
35 Interferon Type I
36 Interferon-alpha
37 interferons
38 Bone Density Conservation Agents
39 Calcium, Dietary
40 Adjuvants, Anesthesia
41 Analgesics
42 Analgesics, Opioid
43 Anesthetics
44 Anesthetics, General
45 Anesthetics, Intravenous
46 Anesthetics, Local
47 Central Nervous System Depressants
48 Narcotics
49 Peripheral Nervous System Agents
50 Adrenergic Agents

Interventional clinical trials:

(show all 12)

id 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 S-1, S-1/CDDP, and 5-FU/CDDP for Advanced Gastric Cancer Completed NCT00202969 Phase 3 S-1;S-1 plus CDDP;5-FU plus CDDP
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, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
7 Randomized Controlled Trial of Insulin Versus Tablets for Latent Autoimmune Diabetes in Adults (LADA) Unknown status NCT00776607 NovoMix 30;Tablet treatment
8 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
9 Effect of High-calcium Intake on Substrate Metabolism During Exercise Completed NCT01779245
10 Analgesic Effect of Ropivacaine Plus Fentanyl vs Ropivacaine for Continuous 3-in-1 FNB After Total Knee Arthroplasty Completed NCT02501863 Femoral nerve block with ropivacaine+fentanyl;Femoral nerve block with ropivacaine
11 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Recruiting NCT02240745
12 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:

39
Bone

Publications for Aniridia 3

Variations for Aniridia 3

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

71
id Symbol AA change Variation ID SNP ID
1 TRIM44 p.Gly155Arg VAR_077853

ClinVar genetic disease variations for Aniridia 3:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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