MCID: CNG005
MIFTS: 23

Congenital Aphakia

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Congenital Aphakia

MalaCards integrated aliases for Congenital Aphakia:

Name: Congenital Aphakia 12 15 32
Aphakia, Congenital Primary 12
Congenital Absence of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11367
ICD9CM 34 743.35
NCIt 50 C35172
SNOMED-CT 67 35387008
ICD10 32 Q12.3
UMLS 70 C0152422

Summaries for Congenital Aphakia

MalaCards based summary : Congenital Aphakia, also known as aphakia, congenital primary, is related to microphthalmia and fryns microphthalmia syndrome. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3). Affiliated tissues include eye and pituitary.

Related Diseases for Congenital Aphakia

Diseases related to Congenital Aphakia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.8 VSX2 PAX6 FOXE3 CRYAA
2 fryns microphthalmia syndrome 29.7 VSX2 PAX6
3 peters-plus syndrome 29.5 VSX2 PAX6 FOXE3 CRYAA
4 aniridia 1 29.2 VSX2 PAX6 FOXE3 CRYAA
5 cataract 28.8 VSX2 PAX6 FOXE3 CRYGB CRYAA
6 anterior segment dysgenesis 2 10.3
7 disuse amblyopia 10.2 FOXE3 CRYAA
8 aniseikonia 10.2 PAX6 FOXE3
9 rubella 10.2
10 anisometropia 10.2 PAX6 CRYAA
11 ectropion 10.1 PAX6 CRYAA
12 vitreous disease 10.1 PAX6 CRYAA
13 morgagni cataract 10.1 CRYGB CRYAA
14 exotropia 10.1 PAX6 CRYAA
15 immature cataract 10.1 CRYGB CRYAA
16 anterior segment dysgenesis 1 10.1 PAX6 FOXE3
17 cataract 24 10.1 CRYGB CRYAA
18 early-onset lamellar cataract 10.1 CRYGB CRYAA
19 papillorenal syndrome 10.1 PAX6 CRYAA
20 cataract 48 10.1 CRYGB CRYAA
21 eyelid disease 10.1 PAX6 CRYAA
22 congenital nystagmus 10.1 PAX6 CRYAA
23 presbyopia 10.1 CRYGB CRYAA
24 cataract 44 10.1 CRYGB CRYAA
25 ocular motility disease 10.1 PAX6 CRYAA
26 abruzzo-erickson syndrome 10.1 CRYGB CRYAA
27 night blindness, congenital stationary, type 2a 10.1 CRYGB CRYAA
28 congenital ptosis 10.1 PAX6 CRYAA
29 linear skin defects with multiple congenital anomalies 1 10.1 PAX6 FOXE3
30 axenfeld-rieger syndrome, type 1 10.1 PAX6 FOXE3 CRYAA
31 axenfeld-rieger syndrome 10.1 PAX6 FOXE3 CRYAA
32 sclerocornea 10.1 PAX6 FOXE3 CRYAA
33 iris disease 10.0 PAX6 FOXE3 CRYAA
34 juvenile glaucoma 10.0 PAX6 FOXE3 CRYAA
35 primary congenital glaucoma 10.0 PAX6 FOXE3 CRYAA
36 esotropia 10.0 PAX6 FOXE3 CRYAA
37 glaucoma 3, primary congenital, a 10.0 PAX6 FOXE3
38 amblyopia 10.0 PAX6 FOXE3 CRYAA
39 axenfeld-rieger syndrome, type 3 10.0 PAX6 FOXE3 CRYAA
40 corneal disease 10.0 PAX6 FOXE3 CRYAA
41 eye accommodation disease 10.0 FOXE3 CRYGB CRYAA
42 porencephaly 10.0 CRYGB CRYAA
43 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.0 PAX6 FOXE3
44 isolated microphthalmia 9.9 VSX2 FOXE3
45 leukocoria 9.9 VSX2 CRYAA
46 microphthalmia, syndromic 8 9.9 VSX2 PAX6
47 microphthalmia, isolated 3 9.9 VSX2 PAX6
48 microphthalmia, isolated 2 9.9 VSX2 PAX6
49 branchiootic syndrome 1 9.9
50 intraocular pressure quantitative trait locus 9.9

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



Diseases related to Congenital Aphakia

Symptoms & Phenotypes for Congenital Aphakia

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:

40
Eye, Pituitary

Publications for Congenital Aphakia

Articles related to Congenital Aphakia:

(show all 28)
# Title Authors PMID Year
1
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. 61
32791987 2020
2
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 61
29464339 2019
3
Lack of FOXE3 coding mutation in a case of congenital aphakia. 61
28805541 2018
4
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. 61
29088057 2018
5
Secondary congenital aphakia. 61
27220231 2016
6
A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. 61
23834556 2014
7
Use of Anterior Segment OCT in the Evaluation and Management of Congenital Aphakia. 61
20842979 2009
8
Aniridia associated with congenital aphakia and secondary glaucoma. 61
19574704 2009
9
Corneal perforation with secondary congenital aphakia in Peters anomaly. 61
15604880 2005
10
Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. 61
11801506 2002
11
Cataract mutations and lens development. 61
9932285 1999
12
Congenital aphakia in Peters' anomaly syndrome. A case report. 61
9469564 1997
13
Congenital aphakia. 61
9253731 1997
14
Congenital aphakia: a clinicopathologic report of three cases. 61
9027678 1997
15
[Improving the function of the visual system in children with aphakia]. 61
2263039 1990
16
[Non-traumatic retinal detachment in children under 15 years of age]. 61
2641065 1989
17
The anterior eye segment in virus induced primary congenital aphakia. 61
2855967 1988
18
Peter's anomaly with congenital aphakia. 61
7378901 1980
19
[Congenital aphakia associated with microphthalmos and pituitary dwarfism]. 61
749048 1978
20
The use of contact B mode ultrasound in pediatric ophthalmology. 61
1018178 1976
21
Primary congenital aphakia and the rubella syndrome. 61
807986 1975
22
Bilateral secondary congenital aphakia. 61
5674797 1968
23
[On the etiology of secondary congenital aphakia]. 61
5304389 1968
24
UNILATERAL PRIMARY CONGENITAL APHAKIA. 61
14233703 1964
25
TERATOGENICALLY INDUCED CONGENITAL APHAKIA. 61
14262672 1964
26
Congenital aphakia. 61
13845783 1960
27
Slit pupil associated with congenital aphakia. 61
12997951 1951
28
A Specimen of Congenital Aphakia occurring in a Human Embryo of Five to Six Weeks. 61
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:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.46 VSX2 PAX6 CRYGB CRYAA
2 camera-type eye development GO:0043010 9.4 PAX6 FOXE3
3 gene expression GO:0010467 9.37 PAX6 HOXA3
4 cornea development in camera-type eye GO:0061303 9.32 PAX6 FOXE3
5 iris morphogenesis GO:0061072 9.26 PAX6 FOXE3
6 eye development GO:0001654 9.13 PAX6 FOXE3 CRYGB
7 lens development in camera-type eye GO:0002088 8.8 PAX6 FOXE3 CRYGB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.96 CRYGB CRYAA
2 HMG box domain binding GO:0071837 8.62 PAX6 HOXA3

Sources for Congenital Aphakia

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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