AN2
MCID: ANR047
MIFTS: 28

Aniridia 2 (AN2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aniridia 2

MalaCards integrated aliases for Aniridia 2:

Name: Aniridia 2 58 76
Aniridia Type 2 77 74
An2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
aniridia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617141
MeSH 45 D015783
MedGen 43 C0344543
SNOMED-CT via HPO 70 263681008
UMLS 74 C0344543

Summaries for Aniridia 2

UniProtKB/Swiss-Prot : 76 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 leucovorin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone.

Wikipedia : 77 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
Pax6-Related Aniridia

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

# Related Disease Score Top Affiliating Genes
1 aniridia 1 31.5 ELP4 PAX6
2 iris disease 9.7 ELP4 PAX6
3 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.7 ELP4 PAX6
4 keratitis, hereditary 9.5 ELP4 PAX6

Symptoms & Phenotypes for Aniridia 2

Symptoms via clinical synopsis from OMIM:

58
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 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 6857599 5310940 9887054 43805
2
leucovorin Approved Phase 2 58-05-9 6006 143
3
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
s 1 (combination) Phase 2
6 Pharmaceutical Solutions Phase 2
7 Antirheumatic Agents Phase 2
8 Folic Acid Antagonists Phase 2
9 Dermatologic Agents Phase 2
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Immunologic Factors Phase 2,Not Applicable
12 Nucleic Acid Synthesis Inhibitors Phase 2
13 Micronutrients Phase 2
14 Vitamin B9 Phase 2
15 Folate Phase 2
16 Vitamins Phase 2
17 Immunosuppressive Agents Phase 2,Not Applicable
18 Trace Elements Phase 2
19 Antimetabolites Phase 2,Not Applicable
20 Nutrients Phase 2
21 Vitamin B Complex Phase 2
22 Hematinics Phase 2
23
Tocopherol Approved, Investigational Phase 1 1406-66-2 14986
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
25 Tocotrienol Investigational Phase 1 6829-55-6
26 Tocopherols Phase 1
27 Soy Bean Phase 1
28 Tocotrienols Phase 1
29 Omega 3 Fatty Acid Phase 1
30 Locust bean gum Phase 1
31
Cisplatin Approved Not Applicable 15663-27-1 441203 84093 2767
32
Gemcitabine Approved Not Applicable 95058-81-4 60750
33
Calcium Carbonate Approved, Investigational Not Applicable 471-34-1
34
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
35 Anti-Infective Agents Not Applicable
36 Antiviral Agents Not Applicable
37 Bone Density Conservation Agents Not Applicable
38 Hormones Not Applicable
39 Incretins Not Applicable
40 Calcium Supplement Not Applicable
41 Calcium, Dietary Not Applicable
42 Hormone Antagonists Not Applicable
43 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of DPD for Predicting Efficacy and Safety to S-1 Plus Oxaliplatin in Gastrointestinal Cancer Unknown status NCT01608646 Phase 2 S-1 plus oxaliplatin
2 Early Mobilization in Intensive Therapy Unknown status NCT01549808 Phase 1, Phase 2
3 Study to Evaluate the Efficacy and Safety of GSK3196165 Plus Methotrexate in Subjects With Active Moderate-Severe Rheumatoid Arthritis Completed NCT02504671 Phase 2 GSK3196165;MTX;Folic acid;Placebo
4 NAPLS Omega-3 Fatty Acid Versus Placebo Study Unknown status NCT01429454 Phase 1 Omega-3 Long Chain Fatty Acid;Placebo
5 A Drug-Drug Interaction Study of FDL169 and FDL176 in Healthy Subjects Completed NCT03516331 Phase 1 FDL176 & FDL169 coadministration
6 Neoadjuvant Chemotherapy in Locally Advanced Bladder Cancer Completed NCT01801644 Not Applicable gemcitabine plus cisplatin
7 Effect of High-calcium Intake on Appetite, Insulinemia and Incretins Completed NCT01682343 Not Applicable
8 Acute Effects of a Passive Stretching Session on the Mechanical Properties of Medial Gastrocnemius Muscle in Children With Cerebral Palsy Recruiting NCT03714269 Not Applicable
9 Closure After Total Shoulder Arthroplasty: Prineo vs Dermabond Not yet recruiting NCT03899753 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:

42
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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