MCID: ANR047
MIFTS: 25

Aniridia 2

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia 2

MalaCards integrated aliases for Aniridia 2:

Name: Aniridia 2 54 71 29
An2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated october 2016)


Classifications:



External Ids:

OMIM 54 617141
MedGen 40 C0344543
MeSH 42 D015783

Summaries for Aniridia 2

UniProtKB/Swiss-Prot : 71 Aniridia 2: 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 2, also known as an2, is related to aniridia and hypogonadotropic hypogonadism 24 without anosmia. An important gene associated with Aniridia 2 is ELP4 (Elongator Acetyltransferase Complex Subunit 4), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Vaccines and Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include bone and eye.

Description from OMIM: 617141

Related Diseases for Aniridia 2

Diseases in the Aniridia family:

Aniridia 2 Aniridia 3

Diseases related to Aniridia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 aniridia 9.8
2 hypogonadotropic hypogonadism 24 without anosmia 9.6 ELP4 PAX6
3 skin granular cell tumor 9.5 ELP4 PAX6
4 anterior segment dysgenesis 5, multiple subtypes 9.5 ELP4 PAX6
5 isolated microphthalmia 9.4 ELP4 PAX6
6 coloboma of optic nerve 9.2 ELP4 PAX6

Graphical network of the top 20 diseases related to Aniridia 2:



Diseases related to Aniridia 2

Symptoms & Phenotypes for Aniridia 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
iris aplasia, bilateral
peripheral cataracts
absence of foveal depression


Clinical features from OMIM:

617141

Drugs & Therapeutics for Aniridia 2

Drugs for Aniridia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
3
s 1 (combination) Phase 2
4 Tocopherol Approved, Nutraceutical Phase 1
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
6
Docetaxel Approved May 1996, Investigational Phase 1 114977-28-5 148124 9877265
7 Antimitotic Agents Phase 1
8 Pharmaceutical Solutions Phase 1
9 Locust bean gum Phase 1
10 Tocopherols Phase 1
11 Tocotrienols Phase 1
12 Omega 3 Fatty Acid Nutraceutical Phase 1
13 Soy Bean Nutraceutical Phase 1
14 Tocotrienol Investigational, Nutraceutical Phase 1 6829-55-6
15
Cisplatin Approved 15663-27-1 84093 441203 2767
16
Gemcitabine Approved 95058-81-4 60750
17
Calcium Carbonate Approved 471-34-1
18 Anti-Infective Agents
19 Antimetabolites
20 Antimetabolites, Antineoplastic
21 Antiviral Agents
22 Immunosuppressive Agents
23 Bone Density Conservation Agents
24 Calcium, Dietary
25 Hormone Antagonists
26 Hormones
27 Hormones, Hormone Substitutes, and Hormone Antagonists
28 Incretins
29 Calcium Supplement Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
2 Early Mobilization in Intensive Therapy Unknown status NCT01549808 Phase 1, Phase 2
3 Study of DPD for Predicting Efficacy and Safety to S-1 Plus Oxaliplatin in Gastrointestinal Cancer Recruiting NCT01608646 Phase 2 S-1 plus oxaliplatin
4 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
5 Study of Ataluren in Patients With Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
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 NAPLS Omega-3 Fatty Acid Versus Placebo Study Active, not recruiting NCT01429454 Phase 1 Omega-3 Long Chain Fatty Acid;Placebo
8 Neoadjuvant Chemotherapy in Locally Advanced Bladder Cancer Completed NCT01801644 gemcitabine plus cisplatin
9 Effect of High-calcium Intake on Appetite, Insulinemia and Incretins Completed NCT01682343

Search NIH Clinical Center for Aniridia 2

Genetic Tests for Aniridia 2

Genetic tests related to Aniridia 2:

id Genetic test Affiliating Genes
1 Aniridia 2 29

Anatomical Context for Aniridia 2

MalaCards organs/tissues related to Aniridia 2:

39
Bone, Eye

Publications for Aniridia 2

Articles related to Aniridia 2:

id Title Authors Year
1
Ultrasound biomicroscopy in traumatic aniridia 2 years after phacoemulsification. ( 17010879 )
2006
2
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). ( 2347591 )
1990

Variations for Aniridia 2

Expression for Aniridia 2

Search GEO for disease gene expression data for Aniridia 2.

Pathways for Aniridia 2

Pathways related to Aniridia 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.1 ELP4 PAX6

GO Terms for Aniridia 2

Biological processes related to Aniridia 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 8.62 ELP4 PAX6

Sources for Aniridia 2

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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