MCID: CNG005
MIFTS: 24

Congenital Aphakia malady

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

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 aphakia, congenital primary. An important gene associated with Congenital Aphakia is FOXE3 (forkhead box E3). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Aliases & Classifications for Congenital Aphakia

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Congenital Aphakia, Aliases & Descriptions:

Name: Congenital Aphakia 10 12
Aphakia, Congenital Primary 10 62
 
Congenital Absence of Lens 10


Classifications:



External Ids:

Disease Ontology10 DOID:11367
NCIt40 C35172
SNOMED-CT57 35387008
ICD9CM29 743.35
ICD1027 Q12.3

Related Diseases for Congenital Aphakia

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Diseases in the Congenital Aphakia family:

Aphakia, Congenital Primary

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

idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly10.2
2aphakia, congenital primary10.1
3aniridia10.1
4rubella10.1

Symptoms for Congenital Aphakia

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Drugs & Therapeutics for Congenital Aphakia

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Drug clinical trials:

Search ClinicalTrials for Congenital Aphakia

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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1CRYGB, FOXE3

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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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056349.1CRYGB, FOXE3

Products for genes affiliated with Congenital Aphakia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Aphakia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet