AN3
MCID: ANR046
MIFTS: 18

Aniridia 3 (AN3)

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

Aliases & Classifications for Aniridia 3

MalaCards integrated aliases for Aniridia 3:

Name: Aniridia 3 57 74 29 6
An3 57 74
Aniridia, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive decreased visual acuity due to gradual development of cataract caused by exposure to sun
based on report of one 4-generation chinese family (last curated october 2016)


HPO:

32
aniridia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D015783

Summaries for Aniridia 3

UniProtKB/Swiss-Prot : 74 Aniridia 3: 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 3, also known as an3, is related to endometrial adenocarcinoma. An important gene associated with Aniridia 3 is TRIM44 (Tripartite Motif Containing 44). Related phenotypes are glaucoma and cataract

More information from OMIM: 617142 PS106210

Related Diseases for Aniridia 3

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3

Diseases related to Aniridia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endometrial adenocarcinoma 10.3

Symptoms & Phenotypes for Aniridia 3

Human phenotypes related to Aniridia 3:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 occasional (7.5%) HP:0000501
2 cataract 32 HP:0000518
3 progressive visual loss 32 HP:0000529

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
glaucoma (in some patients)
decreased visual acuity, progressive
bilateral defects of the iris

Clinical features from OMIM:

617142

Drugs & Therapeutics for Aniridia 3

Search Clinical Trials , NIH Clinical Center for Aniridia 3

Genetic Tests for Aniridia 3

Genetic tests related to Aniridia 3:

# Genetic test Affiliating Genes
1 Aniridia 3 29 TRIM44

Anatomical Context for Aniridia 3

Publications for Aniridia 3

Articles related to Aniridia 3:

# Title Authors PMID Year
1
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. 8 71
26394807 2015
2
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 38
27124303 2016
3
Ex vivo expansion and transplantation of limbal epithelial stem cells. 38
18554721 2008
4
Amniotic membrane transplantation with or without limbal allografts for corneal surface reconstruction in patients with limbal stem cell deficiency. 38
9565039 1998

Variations for Aniridia 3

ClinVar genetic disease variations for Aniridia 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRIM44 NM_017583.6(TRIM44): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs886039241 11:35685122-35685122 11:35663574-35663574

UniProtKB/Swiss-Prot genetic disease variations for Aniridia 3:

74
# Symbol AA change Variation ID SNP ID
1 TRIM44 p.Gly155Arg VAR_077853 rs886039241

Expression for Aniridia 3

Search GEO for disease gene expression data for Aniridia 3.

Pathways for Aniridia 3

GO Terms for Aniridia 3

Sources for Aniridia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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