MCID: CNG005
MIFTS: 27

Congenital Aphakia malady

Genetic diseases, Eye diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Congenital Aphakia

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Aliases & Descriptions for Congenital Aphakia:

Name: Congenital Aphakia 10 12
Aphakia, Congenital Primary 10
 
Congenital Absence of Lens 10


Classifications:



External Ids:

Disease Ontology10 DOID:11367
ICD9CM29 743.35
SNOMED-CT59 35387008
NCIt42 C35172
ICD1027 Q12.3

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 aniridia. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3). Affiliated tissues include eye, and related mouse phenotypes are vision/eye and cardiovascular system.

Related Diseases for Congenital Aphakia

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Graphical network of 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
DipivefrinapprovedPhase 38252365-63-63105
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 Hydrochloride
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:

33
Eye

Animal Models for Congenital Aphakia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Aphakia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3CRYGB, FOXE3, PAX2, PAX6
2MP:00053857.4FOXE3, HDAC9, HMOX2, PAX2, PAX6

Publications for Congenital Aphakia

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Articles related to Congenital Aphakia:

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.0FOXE3, PAX6
2cornea development in camera-type eyeGO:006130310.0FOXE3, PAX6
3positive regulation of epithelial cell proliferationGO:00506799.7FOXE3, PAX2
4eye developmentGO:00016549.5CRYGB, FOXE3, PAX6
5lens development in camera-type eyeGO:00020889.4CRYGB, FOXE3, PAX6
6cell fate determinationGO:00017099.2PAX2, PAX6
7camera-type eye developmentGO:00430108.8FOXE3, PAX2, PAX6
8visual perceptionGO:00076018.7CRYGB, PAX2, PAX6

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:00081348.6HDAC9, PAX2, PAX6

Sources for Congenital Aphakia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet