MCID: CNG005
MIFTS: 30

Congenital Aphakia

Categories: Eye diseases

Aliases & Classifications for Congenital Aphakia

MalaCards integrated aliases for Congenital Aphakia:

Name: Congenital Aphakia 12 15
Aphakia, Congenital Primary 12
Congenital Absence of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11367
ICD9CM 36 743.35
NCIt 51 C35172
SNOMED-CT 69 35387008
ICD10 34 Q12.3
UMLS 74 C0152422

Summaries for Congenital Aphakia

MalaCards based summary : Congenital Aphakia, also known as aphakia, congenital primary, is related to peters-plus syndrome and anterior segment dysgenesis. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Cardiac Progenitor Differentiation. Affiliated tissues include eye, and related phenotypes are hearing/vestibular/ear and pigmentation

Related Diseases for Congenital Aphakia

Graphical network of the top 20 diseases related to Congenital Aphakia:



Diseases related to Congenital Aphakia

Symptoms & Phenotypes for Congenital Aphakia

MGI Mouse Phenotypes related to Congenital Aphakia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 OTX2 PAX2 PAX6 SOX2
2 pigmentation MP:0001186 9.46 OTX2 PAX2 PAX6 SOX2
3 taste/olfaction MP:0005394 9.13 OTX2 PAX6 SOX2
4 vision/eye MP:0005391 9.1 CRYGB GJA8 OTX2 PAX2 PAX6 SOX2

Drugs & Therapeutics for Congenital Aphakia

Search Clinical Trials , NIH Clinical Center for Congenital Aphakia

Genetic Tests for Congenital Aphakia

Anatomical Context for Congenital Aphakia

MalaCards organs/tissues related to Congenital Aphakia:

42
Eye

Publications for Congenital Aphakia

Articles related to Congenital Aphakia:

(show all 17)
# Title Authors Year
1
Lack of FOXE3 coding mutation in a case of congenital aphakia. ( 28805541 )
2017
2
Secondary congenital aphakia. ( 27220231 )
2016
3
Aniridia associated with congenital aphakia and secondary glaucoma. ( 19574704 )
2009
4
Use of Anterior Segment OCT in the Evaluation and Management of Congenital Aphakia. ( 20842979 )
2009
5
Corneal perforation with secondary congenital aphakia in Peters anomaly. ( 15604880 )
2005
6
Congenital aphakia in Peters' anomaly syndrome. A case report. ( 9469564 )
1997
7
Congenital aphakia: a clinicopathologic report of three cases. ( 9027678 )
1997
8
Congenital aphakia. ( 9253731 )
1997
9
The anterior eye segment in virus induced primary congenital aphakia. ( 2855967 )
1988
10
Peter's anomaly with congenital aphakia. ( 7378901 )
1980
11
Primary congenital aphakia and the rubella syndrome. ( 807986 )
1975
12
Bilateral secondary congenital aphakia. ( 5674797 )
1968
13
UNILATERAL PRIMARY CONGENITAL APHAKIA. ( 14233703 )
1964
14
TERATOGENICALLY INDUCED CONGENITAL APHAKIA. ( 14262672 )
1964
15
Congenital aphakia. ( 13845783 )
1960
16
Slit pupil associated with congenital aphakia. ( 12997951 )
1951
17
A Specimen of Congenital Aphakia occurring in a Human Embryo of Five to Six Weeks. ( 19981976 )
1921

Variations for Congenital Aphakia

Expression for Congenital Aphakia

Search GEO for disease gene expression data for Congenital Aphakia.

Pathways for Congenital Aphakia

GO Terms for Congenital Aphakia

Biological processes related to Congenital Aphakia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 FOXE3 OTX2 PAX2 PAX6 SOX2
2 cell differentiation GO:0030154 9.87 FOXE3 PAX2 PAX6 SOX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.8 OTX2 PAX2 PAX6 SOX2
4 response to wounding GO:0009611 9.58 PAX6 SOX2
5 cell fate commitment GO:0045165 9.56 PAX6 SOX2
6 visual perception GO:0007601 9.56 CRYGB GJA8 PAX2 PAX6
7 negative regulation of epithelial cell proliferation GO:0050680 9.55 PAX6 SOX2
8 negative regulation of neuron differentiation GO:0045665 9.54 PAX6 SOX2
9 forebrain development GO:0030900 9.54 OTX2 PAX6 SOX2
10 positive regulation of epithelial cell proliferation GO:0050679 9.52 FOXE3 PAX2
11 transcription by RNA polymerase II GO:0006366 9.5 FOXE3 PAX2 PAX6
12 pituitary gland development GO:0021983 9.48 PAX6 SOX2
13 cell fate determination GO:0001709 9.46 PAX2 PAX6
14 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
15 iris morphogenesis GO:0061072 9.4 FOXE3 PAX6
16 eye development GO:0001654 9.33 FOXE3 PAX6 SOX2
17 camera-type eye development GO:0043010 9.26 FOXE3 GJA8 PAX2 PAX6
18 lens development in camera-type eye GO:0002088 8.92 CRYGB FOXE3 GJA8 PAX6

Molecular functions related to Congenital Aphakia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.56 FOXE3 OTX2 PAX6 SOX2
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 FOXE3 OTX2 PAX2 PAX6 SOX2
3 transcription regulatory region DNA binding GO:0044212 9.13 PAX2 PAX6 SOX2
4 sequence-specific DNA binding GO:0043565 8.92 FOXE3 OTX2 PAX6 SOX2

Sources for Congenital Aphakia

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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