MCID: CNG005
MIFTS: 20

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 9 11
Aphakia, Congenital Primary 9
 
Congenital Absence of Lens 9


Classifications:



External Ids:

Disease Ontology9 DOID:11367
NCIt38 C35172
SNOMED-CT55 35387008
ICD9CM27 743.35
ICD1025 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 Suite 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:

31
Eye

Animal Models for Congenital Aphakia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Aphakia:

35
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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet