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

Classifications:



External Ids:

Disease Ontology10 DOID:11367
ICD1027 Q12.3
SNOMED-CT59 35387008
ICD9CM29 743.35
NCIt42 C35172
UMLS65 C0152422

Summaries for Congenital Aphakia

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MalaCards based summary: Congenital Aphakia, also known as aphakia, congenital primary, is related to aphakia, congenital primary and prostatitis. An important gene associated with Congenital Aphakia is FOXE3 (Forkhead Box E3), and among its related pathways are Cardiac Progenitor Differentiation and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye and pituitary, and related mouse phenotypes are taste/olfaction and pigmentation.

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
DipivefrinapprovedPhase 38452365-63-63105
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, Pituitary

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:00053949.1OTX2, PAX6, SOX2
2MP:00011868.6OTX2, PAX2, PAX6, SOX2
3MP:00053778.4OTX2, PAX2, PAX6, SOX2
4MP:00053918.2CRYGB, OTX2, PAX2, PAX6, SOX2
5MP:00053698.0HDAC9, HMOX2, OTX2, PAX6, SOX2

Publications for Congenital Aphakia

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Articles related to Congenital Aphakia:

(show all 15)
idTitleAuthorsYear
1
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. (26708157)
2016
2
Increased expression URG11 in hepatocellular carcinoma tissues promotes the growth of hepatocellular carcinoma cells]. (26522362)
2015
3
Low-dose methotrexate for the treatment of chronic central serous chorioretinopathy: a retrospective analysis. (22718154)
2012
4
Explicit and implicit anosognosia or upper limb motor impairment. (20117119)
2010
5
Neglect dyslexia: a review of the neuropsychological literature. (20714712)
2010
6
Tumor-derived Ikaros 6 acetylates the Bcl-XL promoter to up-regulate a survival signal in pituitary cells. (16873443)
2006
7
Variceal bleeding: pharmacological therapy. (15920322)
2005
8
Immunological and structural analysis of IgE-mediated cross-reactivity between manganese superoxide dismutases. (12218367)
2002
9
Phototesting in lupus erythematosus tumidus--review of 60 patients. (11367576)
2001
10
Myelin-associated glycoprotein interacts with ganglioside GT1b. A mechanism for neurite outgrowth inhibition. (11279053)
2001
11
Modulation of metabolism through transcriptional control has created new treatment opportunities for type 2 diabetes. (11467362)
2000
12
Differential effects of phorbol 12-myristate 13-acetate and diacylglycerols on thromboxane A2-independent phospholipase A2 activation in collage-stimulated human platelets. (8043296)
1994
13
Alcohol and aldehyde dehydrogenase genotypes and alcoholism in Chinese men. (2014795)
1991
14
His-bundle electrogram in the convalescent stage of inferior myocardial infarction complicated with complete A-V block. (7069328)
1982
15
Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. (5007561)
1972

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 11)
idNameGO IDScoreTop Affiliating Genes
1forebrain developmentGO:003090010.3OTX2, PAX6
2camera-type eye developmentGO:004301010.2FOXE3, PAX2
3axonogenesisGO:000740910.1PAX2, PAX6
4lens development in camera-type eyeGO:00020889.7CRYGB, FOXE3, PAX6
5cell fate determinationGO:00017099.7PAX2, PAX6
6negative regulation of neuron differentiationGO:00456659.6PAX6, SOX2
7eye developmentGO:00016549.4FOXE3, PAX6, SOX2
8multicellular organism developmentGO:00072759.2OTX2, PAX2, PAX6
9transcription from RNA polymerase II promoterGO:00063668.7FOXE3, PAX2, PAX6, SOX2
10regulation of transcription, DNA-templatedGO:00063558.1FOXE3, OTX2, PAX2, PAX6, SOX2
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.1OTX2, PAX2, PAX6, SOX2

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