CPA
MCID: CNG005
MIFTS: 27

Congenital Aphakia (CPA) malady

Eye, Fetal categories

Summaries for Congenital Aphakia

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Congenital primary aphakia (cpa) is a rare eye condition that is present at birth in which the lens is missing. in some cases, cpa can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). this condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. mutations in the foxe3 gene have been associated with this condition. cpa is thought to be inherited in an autosomal recessive fashion.click here to view a diagram of the eye. last updated: 9/7/2011

MalaCards: Congenital Aphakia, also known as aphakia, congenital primary, is related to hyperandrogenism and rubella, and has symptoms including anomalies of eyes and vision, anophthalmos/anophthalmia/microphthalmos/microphthalmia and aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus. An important gene associated with Congenital Aphakia is FOXE3 (forkhead box E3).

Description from OMIM:47 610256

Aliases & Classifications for Congenital Aphakia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 27ICD9CM, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
congenital primary aphakia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

congenital aphakia 8 10
aphakia, congenital primary 8 9 43 47 61
congenital primary aphakia 43 20 22 49
congenital absence of lens 8
cpa 43


External Ids:

Disease Ontology8 DOID:11367
ICD9CM27 743.35
NCIt40 C35172
OMIM47 610256
MESH via Orphanet36 C537786
SNOMED-CT57 35387008
ICD10 via Orphanet26 Q12.3
SNOMED-CT via Orphanet58 35387008
UMLS via Orphanet62 C1853230
ICD1025 Q12.3

Related Diseases for Congenital Aphakia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Congenital Aphakia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperandrogenism10.2
2rubella10.1
3aniridia10.1
4congenital rubella10.1
5glaucoma, congenital10.1
6cataract10.0CRYGB
7anterior segment mesenchymal dysgenesis10.0FOXE3

Graphical network of diseases related to Congenital Aphakia:



Diseases related to congenital aphakia

Clinical Features for Congenital Aphakia

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

610256

Clinical synopsis from OMIM:

610256

Symptoms:

49
  • anomalies of eyes and vision
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus

Drugs & Therapeutics for Congenital Aphakia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Aphakia

Drug clinical trials:

Search ClinicalTrials for Congenital Aphakia

Search NIH Clinical Center for Congenital Aphakia

Search CenterWatch for Congenital Aphakia

Genetic Tests for Congenital Aphakia

Sources:
20GeneTests, 22GTR
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Genetic tests related to Congenital Aphakia:

id Genetic test Affiliating Genes
1 Congenital Primary Aphakia20 FOXE3
2 Aphakia, Congenital Primary22

Anatomical Context for Congenital Aphakia

Animal Models for Congenital Aphakia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Aphakia

Sources:
51PubMed
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Articles related to Congenital Aphakia:

(show all 19)
idTitleAuthorsYear
1
Predictability of intraocular lens power calculation formulae in infantile eyes with unilateral congenital cataract: results from the Infant Aphakia Treatment Study. (24011524)
2013
2
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. (20361012)
2010
3
Use of Anterior Segment OCT in the Evaluation and Management of Congenital Aphakia. (20842979)
2009
4
Aniridia associated with congenital aphakia and secondary glaucoma. (19574704)
2009
5
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. (16826526)
2006
6
Corneal perforation with secondary congenital aphakia in Peters anomaly. (15604880)
2005
7
Congenital corneal staphyloma associated with aphakia. (15206605)
2004
8
Congenital aphakia: a clinicopathologic report of three cases. (9027678)
1997
9
Congenital aphakia in Peters' anomaly syndrome. A case report. (9469564)
1997
10
Congenital aphakia. (9253731)
1997
11
The anterior eye segment in virus induced primary congenital aphakia. (2855967)
1988-1989
12
Peter's anomaly with congenital aphakia. (7378901)
1980
13
Primary congenital aphakia and the rubella syndrome. (807986)
1975
14
Bilateral secondary congenital aphakia. (5674797)
1968
15
UNILATERAL PRIMARY CONGENITAL APHAKIA. (14233703)
1964
16
TERATOGENICALLY INDUCED CONGENITAL APHAKIA. (14262672)
1964
17
Congenital aphakia. (13845783)
1960
18
Slit pupil associated with congenital aphakia. (12997951)
1951
19
A Specimen of Congenital Aphakia occurring in a Human Embryo of Five to Six Weeks. (19981976)
1921

Genetic Variations for Congenital Aphakia

Expression for genes affiliated with Congenital Aphakia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Aphakia

Search GEO for disease gene expression data for Congenital Aphakia.

Pathways for genes affiliated with Congenital Aphakia

Compounds for genes affiliated with Congenital Aphakia

GO Terms for genes affiliated with Congenital Aphakia

Products for genes affiliated with Congenital Aphakia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Aphakia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet