MCID: ANR047
MIFTS: 27

Aniridia 2

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia 2

MalaCards integrated aliases for Aniridia 2:

Name: Aniridia 2 57 75
Aniridia Type 2 76 73
An2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
aniridia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617141
MedGen 42 C0344543
MeSH 44 D015783
SNOMED-CT via HPO 69 263681008
UMLS 73 C0344543

Summaries for Aniridia 2

UniProtKB/Swiss-Prot : 75 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 : 76 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 30.6 ELP4 PAX6
2 iris disease 9.5 ELP4 PAX6
3 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.4 ELP4 PAX6
4 keratitis, hereditary 9.3 ELP4 PAX6
5 cataract 9.0 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:

57
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 5310940 9887054 43805 6857599
2
s 1 (combination) Phase 2
3
Tocopherol Approved, Investigational, Nutraceutical Phase 1 1406-66-2 14986
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 Not Applicable 15663-27-1 84093 441203 2767
12
Gemcitabine Approved Not Applicable 95058-81-4 60750
13
Calcium Carbonate Approved, Investigational Not Applicable 471-34-1
14 Anti-Infective Agents Not Applicable
15 Antimetabolites Not Applicable
16 Antimetabolites, Antineoplastic Not Applicable
17 Antiviral Agents Not Applicable
18 Immunosuppressive Agents Not Applicable
19 Bone Density Conservation Agents Not Applicable
20 Calcium, Dietary Not Applicable
21 Hormone Antagonists Not Applicable
22 Hormones Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
24 Incretins Not Applicable
25 Calcium Supplement Nutraceutical Not Applicable

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 A Drug-Drug Interaction Study of FDL169 and FDL176 in Healthy Subjects Recruiting NCT03516331 Phase 1 FDL176 & FDL169 coadministration
5 Neoadjuvant Chemotherapy in Locally Advanced Bladder Cancer Completed NCT01801644 Not Applicable gemcitabine plus cisplatin
6 Effect of High-calcium Intake on Appetite, Insulinemia and Incretins Completed NCT01682343 Not Applicable

Search NIH Clinical Center for Aniridia 2

Genetic Tests for Aniridia 2

Anatomical Context for Aniridia 2

MalaCards organs/tissues related to Aniridia 2:

41
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

Sources for Aniridia 2

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
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