MCID: ANR047
MIFTS: 28

Aniridia 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Aniridia 2

MalaCards integrated aliases for Aniridia 2:

Name: Aniridia 2 53 71 28
Aniridia Type 2 72 69
An2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
aniridia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 617141
MedGen 39 C0344543
MeSH 41 D015783
SNOMED-CT via HPO 65 263681008
UMLS 69 C0344543

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 aniridia type 2, is related to aniridia 1 and iris disease. 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 Oxaliplatin and s 1 (combination) have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone.

Wikipedia : 72 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Description from OMIM: 617141

Related Diseases for Aniridia 2

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3

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

# Related Disease Score Top Affiliating Genes
1 aniridia 1 28.8 ELP4 PAX6
2 iris disease 9.6 ELP4 PAX6
3 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5 ELP4 PAX6

Symptoms & Phenotypes for Aniridia 2

Symptoms via clinical synopsis from OMIM:

53
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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
2
s 1 (combination) Phase 2
3 Tocopherol Approved, Investigational, Nutraceutical Phase 1
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
5 Locust bean gum Phase 1
6 Tocopherols Phase 1
7 Tocotrienols Phase 1
8 Omega 3 Fatty Acid Nutraceutical Phase 1
9 Soy Bean Nutraceutical Phase 1
10 Tocotrienol Investigational, Nutraceutical Phase 1 6829-55-6
11
Cisplatin Approved 15663-27-1 2767 441203 84093
12
Gemcitabine Approved 95058-81-4 60750
13
Calcium Carbonate Approved, Investigational 471-34-1
14 Anti-Infective Agents
15 Antimetabolites
16 Antimetabolites, Antineoplastic
17 Antiviral Agents
18 Immunosuppressive Agents
19 Bone Density Conservation Agents
20 Calcium, Dietary
21 Hormone Antagonists
22 Hormones
23 Hormones, Hormone Substitutes, and Hormone Antagonists
24 Incretins
25 Calcium Supplement Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Early Mobilization in Intensive Therapy Unknown status NCT01549808 Phase 1, Phase 2
2 Study of DPD for Predicting Efficacy and Safety to S-1 Plus Oxaliplatin in Gastrointestinal Cancer Recruiting NCT01608646 Phase 2 S-1 plus oxaliplatin
3 NAPLS Omega-3 Fatty Acid Versus Placebo Study Unknown status NCT01429454 Phase 1 Omega-3 Long Chain Fatty Acid;Placebo
4 Neoadjuvant Chemotherapy in Locally Advanced Bladder Cancer Completed NCT01801644 gemcitabine plus cisplatin
5 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:

# Genetic test Affiliating Genes
1 Aniridia 2 28 ELP4

Anatomical Context for Aniridia 2

MalaCards organs/tissues related to Aniridia 2:

38
Eye, Kidney, Bone

Publications for Aniridia 2

Articles related to Aniridia 2:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 8.62 ELP4 PAX6

Sources for Aniridia 2

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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