MCID: CNG005
MIFTS: 32

Congenital Aphakia malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Congenital Aphakia

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Aliases & Descriptions for Congenital Aphakia:

Name: Congenital Aphakia 11 13
Aphakia, Congenital Primary 11
 
Congenital Absence of Lens 11

Classifications:



External Ids:

Disease Ontology11 DOID:11367
ICD1028 Q12.3
SNOMED-CT60 35387008
ICD9CM30 743.35
NCIt43 C35172

Summaries for Congenital Aphakia

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MalaCards based summary: Congenital Aphakia, also known as aphakia, congenital primary, is related to peters anomaly and robinow syndrome. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3), and among its related pathways are Cardiac Progenitor Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Related Diseases for Congenital Aphakia

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



Diseases related to congenital aphakia

Symptoms for Congenital Aphakia

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Drugs & Therapeutics for Congenital Aphakia

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Drugs for Congenital Aphakia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DipivefrinPhase 38752365-63-63105
Synonyms:
( -)-2,2-Dimethylpropansaeure-4-(1-hydroxy-2-(methylamino)ethyl)-1,2-phenylenester
( -)-4-(1-Hydroxy-2-methylaminoethyl)-o-phenylendipivalat
(+-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol 3,4-dipivalate
(+-)-4-[1-Hydroxy-2-(methylamino)ethyl]-O-phenylene divavalate
(+-)-4-[1-hydroxy-2-(methylamino)ethyl]-o-phenylene divavalate
(RS)-4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-phenylen dipivalat
1-(3',4'-Dipivaloyloxyphenyl)-2-methylamino-1-ethanol
1-(3',4'-dipivaloyloxyphenyl)-2-methylamino-1-ethanol
2,2-Dimethylpropanoic acid 4-[1-hydroxy-2-(methylamino)ethyl]-1,2-phenylene ester
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-phenylen dipivalat
4-[1-Hydroxy-2-(methylamino)ethyl]-O-phenylene divavalate
4-[1-hydroxy-2-(methylamino)ethyl]-o-phenylene divavalate
4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diyl bis(2,2-dimethylpropanoate)
52365-63-6
AB00514686
AC1L1F6K
AKOS003662293
AKPro
BPBio1_000688
BRD-A47494775-003-03-0
BSPBio_000624
C06963
C19H29NO5
CHEBI:4646
CID3105
D02349
DB00449
Dipivalyl Epinephrine
 
Dipivefrin
Dipivefrin (USAN)
Dipivefrin HCL
Dipivefrin [USAN]
Dipivefrina
Dipivefrina [INN-Spanish]
Dipivefrine
Dipivefrine (INN)
Dipivefrinum
Dipivefrinum [INN-Latin]
Dipivéfrine
K 30081
L000915
LS-121419
NCGC00179499-01
Ophtho-Dipivefrin
Prestwick0_000632
Prestwick1_000632
Prestwick2_000632
Prestwick3_000632
Pro-Epinephrine
Propine
Propine C Cap B.I.D.
SPBio_002843
UNII-8Q1PVL543G
[2-(2,2-dimethylpropanoyloxy)-4-[1-hydroxy-2-(methylamino)ethyl]phenyl] 2,2-dimethylpropanoate
dipivalyl epinephrine
dipivefrin
nchembio747-comp3

Interventional clinical trials:

idNameStatusNCT IDPhase
1Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract SurgeryCompletedNCT01297153Phase 4
2Infant Aphakia Treatment Study (IATS)CompletedNCT00212134Phase 3
3Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3

Search NIH Clinical Center for Congenital Aphakia

Genetic Tests for Congenital Aphakia

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Anatomical Context for Congenital Aphakia

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MalaCards organs/tissues related to Congenital Aphakia:

34
Eye

Animal Models for Congenital Aphakia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Aphakia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3OTX2, PAX6, SOX2
2MP:00053778.8OTX2, PAX2, PAX6, SOX2
3MP:00011868.7OTX2, PAX2, PAX6, SOX2
4MP:00053918.2CRYGB, OTX2, PAX2, PAX6, SOX2
5MP:00053698.1HDAC9, HMOX2, OTX2, PAX6, SOX2

Publications for Congenital Aphakia

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Articles related to Congenital Aphakia:

(show all 16)
idTitleAuthorsYear
1
Secondary congenital aphakia. (27220231)
2016
2
Use of Anterior Segment OCT in the Evaluation and Management of Congenital Aphakia. (20842979)
2009
3
Aniridia associated with congenital aphakia and secondary glaucoma. (19574704)
2009
4
Corneal perforation with secondary congenital aphakia in Peters anomaly. (15604880)
2005
5
Congenital aphakia: a clinicopathologic report of three cases. (9027678)
1997
6
Congenital aphakia in Peters' anomaly syndrome. A case report. (9469564)
1997
7
Congenital aphakia. (9253731)
1997
8
The anterior eye segment in virus induced primary congenital aphakia. (2855967)
1988-1989
9
Peter's anomaly with congenital aphakia. (7378901)
1980
10
Primary congenital aphakia and the rubella syndrome. (807986)
1975
11
Bilateral secondary congenital aphakia. (5674797)
1968
12
UNILATERAL PRIMARY CONGENITAL APHAKIA. (14233703)
1964
13
TERATOGENICALLY INDUCED CONGENITAL APHAKIA. (14262672)
1964
14
Congenital aphakia. (13845783)
1960
15
Slit pupil associated with congenital aphakia. (12997951)
1951
16
A Specimen of Congenital Aphakia occurring in a Human Embryo of Five to Six Weeks. (19981976)
1921

Variations for Congenital Aphakia

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Expression for genes affiliated with Congenital Aphakia

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Search GEO for disease gene expression data for Congenital Aphakia.

Pathways for genes affiliated with Congenital Aphakia

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GO Terms for genes affiliated with Congenital Aphakia

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Cellular components related to Congenital Aphakia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.7FOXE3, HDAC9, SOX2
2nucleusGO:00056346.6CRYGB, FOXE3, HDAC9, OPTN, OTX2, PAX2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cornea development in camera-type eyeGO:006130310.4FOXE3, PAX6
2iris morphogenesisGO:006107210.4FOXE3, PAX6
3pituitary gland developmentGO:002198310.1PAX6, SOX2
4negative regulation of neuron differentiationGO:00456659.9PAX6, SOX2
5negative regulation of epithelial cell proliferationGO:00506809.9PAX6, SOX2
6lens development in camera-type eyeGO:00020889.8CRYGB, FOXE3, PAX6
7eye developmentGO:00016549.7FOXE3, PAX6, SOX2
8positive regulation of epithelial cell proliferationGO:00506799.7FOXE3, PAX2
9camera-type eye developmentGO:00430109.6FOXE3, PAX2, PAX6
10cell fate determinationGO:00017099.4PAX2, PAX6
11visual perceptionGO:00076019.2CRYGB, PAX2, PAX6
12forebrain developmentGO:00309008.9OTX2, PAX6, SOX2
13positive regulation of transcription, DNA-templatedGO:00458938.7OTX2, PAX2, PAX6, SOX2
14transcription from RNA polymerase II promoterGO:00063668.2FOXE3, OTX2, PAX2, PAX6, SOX2

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.2OTX2, PAX6, SOX2
2transcription factor bindingGO:00081349.0HDAC9, PAX2, PAX6
3transcription regulatory region DNA bindingGO:00442128.9PAX2, PAX6, SOX2

Sources for Congenital Aphakia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet