AN2
MCID: ANR047
MIFTS: 26

Aniridia 2 (AN2)

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

Aliases & Classifications for Aniridia 2

MalaCards integrated aliases for Aniridia 2:

Name: Aniridia 2 57 72 29 6
Aniridia Type 2 73 70
An2 57 72
Aniridia, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 617141
OMIM Phenotypic Series 57 PS106210
MeSH 44 D015783
MedGen 41 C0344543
UMLS 70 C0344543

Summaries for Aniridia 2

UniProtKB/Swiss-Prot : 72 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 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome and aniridia 1. An important gene associated with Aniridia 2 is ELP4 (Elongator Acetyltransferase Complex Subunit 4), and among its related pathways/superpathways is Mesodermal Commitment Pathway. Affiliated tissues include eye, and related phenotypes are cataract and aniridia

Wikipedia : 73 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

More information from OMIM: 617141 PS106210

Related Diseases for Aniridia 2

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



Diseases related to Aniridia 2

Symptoms & Phenotypes for Aniridia 2

Human phenotypes related to Aniridia 2:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 aniridia 31 HP:0000526

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
iris aplasia, bilateral
peripheral cataracts
absence of foveal depression

Clinical features from OMIM®:

617141 (Updated 20-May-2021)

Drugs & Therapeutics for Aniridia 2

Search Clinical Trials , NIH Clinical Center for Aniridia 2

Genetic Tests for Aniridia 2

Genetic tests related to Aniridia 2:

# Genetic test Affiliating Genes
1 Aniridia 2 29 ELP4

Anatomical Context for Aniridia 2

MalaCards organs/tissues related to Aniridia 2:

40
Eye

Publications for Aniridia 2

Articles related to Aniridia 2:

(show all 19)
# Title Authors PMID Year
1
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 57
24290376 2013
2
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. 57
21321669 2011
3
Pax6 3' deletion results in aniridia, autism and mental retardation. 57
18322702 2008
4
A deletion 3' to the PAX6 gene in familial aniridia cases. 57
17679951 2007
5
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. 57
12386836 2002
6
3' deletions cause aniridia by preventing PAX6 gene expression. 57
11087823 2000
7
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. 57
9132491 1997
8
FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). 57
8825052 1996
9
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. 57
7795596 1995
10
Position-effect variegation and the new biology of heterochromatin. 57
8032206 1994
11
[The Boston keratoprosthesis in the management of corneal blindness: Indications and limitations]. 61
30170706 2018
12
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018
13
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. 61
21306220 2011
14
Ultrasound biomicroscopy in traumatic aniridia 2 years after phacoemulsification. 61
17010879 2006
15
[The black diaphragm intraocular lens implantation]. 61
11840751 2001
16
Mitomycin C-augmented trabeculectomy in refractory congenital glaucoma. 61
9186441 1997
17
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. 61
9098485 1997
18
Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice. 61
7559133 1995
19
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). 61
2347591 1990

Variations for Aniridia 2

ClinVar genetic disease variations for Aniridia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6DRR , ELP4 NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter) SNV Uncertain significance 1032057 GRCh37: 11:31669384-31669384
GRCh38: 11:31647836-31647836

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 PAX6 ELP4

GO Terms for Aniridia 2

Sources for Aniridia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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