CPA
MCID: CNG005
MIFTS: 34

Congenital Aphakia (CPA) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Congenital Aphakia

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NIH Rare Diseases:42 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 based summary: Congenital Aphakia, also known as aphakia, congenital primary, is related to hyperandrogenism and aspergillosis, 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). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Description from OMIM:46 610256

Aliases & Classifications for Congenital Aphakia

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Sources:
8Disease Ontology, 10DISEASES, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 62UMLS, 20GeneTests, 22GTR, 48Orphanet, 39NCIt, 57SNOMED-CT, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Congenital Aphakia, Aliases & Descriptions:

Name: Congenital Aphakia 8 10
Aphakia, Congenital Primary 8 9 42 46 62
Congenital Primary Aphakia 42 20 22 48
 
Congenital Absence of Lens 8
Cpa 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
congenital primary aphakia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:11367
NCIt39 C35172
OMIM46 610256
ICD9CM27 743.35
SNOMED-CT57 35387008
MESH via Orphanet35 C537786
ICD10 via Orphanet26 Q12.3
UMLS via Orphanet63 C1853230
ICD1025 Q12.3

Related Diseases for Congenital Aphakia

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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
2aspergillosis10.2
3ovarian disease10.2
4anterior segment mesenchymal dysgenesis10.2FOXE3
5aniridia10.1
6rubella10.1
7breast cancer10.1

Graphical network of diseases related to Congenital Aphakia:



Diseases related to congenital aphakia

Symptoms for Congenital Aphakia

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Symptoms by clinical synopsis from OMIM:

610256

Clinical features from OMIM:

610256

Symptoms:

48
  • anomalies of eyes and vision
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus

HPO human phenotypes related to Congenital Aphakia:

(show all 7)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the lens hallmark (90%) HP:0008063
2 autosomal recessive inheritance HP:0000007
3 aniridia HP:0000526
4 microphthalmos HP:0000568
5 sclerocornea HP:0000647
6 congenital primary aphakia HP:0007707
7 anterior segment of eye aplasia HP:0007779

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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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

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MalaCards organs/tissues related to Congenital Aphakia:

32
Eye

Animal Models for Congenital Aphakia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Aphakia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.3CRYGB, 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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Clinvar genetic disease variations for Congenital Aphakia:

6
id Gene Name Type Significance SNP ID Assembly Location
1FOXE3NM_012186.2(FOXE3): c.720C> A (p.Cys240Ter)single nucleotide variantPathogenicrs80358194GRCh37Chr 1, 47882707: 47882707

Expression for genes affiliated with Congenital Aphakia

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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

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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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Products for genes affiliated with Congenital Aphakia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Aphakia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet