MCID: CNG005
MIFTS: 31

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
ICD10 33 Q12.3
ICD9CM 35 743.35
NCIt 50 C35172
SNOMED-CT 68 35387008
UMLS 73 C0152422

Summaries for Congenital Aphakia

MalaCards based summary : Congenital Aphakia, also known as aphakia, congenital primary, is related to anterior segment dysgenesis and anterior segment dysgenesis 1. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

GenomeRNAi Phenotypes related to Congenital Aphakia according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.53 FOXE3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 HCCS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.53 OTX2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 OTX2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.53 OTX2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 FOXE3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.53 FOXE3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.53 FOXE3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.53 FOXE3 HCCS OTX2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.53 FOXE3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.53 HCCS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.53 HCCS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.53 HCCS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.53 OTX2
15 Decreased NF-kappaB reporter expression GR00312-A 9.5 CRYGB GJA8 GOLPH3 OPTN OTX2 PAX6

MGI Mouse Phenotypes related to Congenital Aphakia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.46 OTX2 PAX2 PAX6 SOX2
2 taste/olfaction MP:0005394 9.13 OTX2 PAX6 SOX2
3 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:

41
Eye, Bone

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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 OTX2 PAX2 PAX6 SOX2
2 transcription by RNA polymerase II GO:0006366 9.77 FOXE3 OTX2 PAX2 PAX6 SOX2
3 visual perception GO:0007601 9.56 CRYGB GJA8 PAX2 PAX6
4 Golgi to plasma membrane protein transport GO:0043001 9.51 GOLPH3 OPTN
5 forebrain development GO:0030900 9.5 OTX2 PAX6 SOX2
6 pituitary gland development GO:0021983 9.49 PAX6 SOX2
7 cell fate determination GO:0001709 9.48 PAX2 PAX6
8 Golgi ribbon formation GO:0090161 9.46 GOLPH3 OPTN
9 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
10 iris morphogenesis GO:0061072 9.4 FOXE3 PAX6
11 eye development GO:0001654 9.33 FOXE3 PAX6 SOX2
12 camera-type eye development GO:0043010 9.26 FOXE3 GJA8 PAX2 PAX6
13 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 transcription regulatory region DNA binding GO:0044212 9.13 PAX2 PAX6 SOX2
2 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 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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