MCID: CTR014
MIFTS: 27

Cataract Microcornea Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Cataract Microcornea Syndrome

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Sources:
46NIH Rare Diseases, 66UMLS, 23GeneTests, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 46 66
Cataract-Microcornea Syndrome 23 52
 
Microcornea Cataract Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
cataract-microcornea syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA1377
ICD10 via Orphanet29 Q13.8
MESH via Orphanet38 C538287
UMLS via Orphanet67 C1861829

Summaries for Cataract Microcornea Syndrome

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MalaCards based summary: Cataract Microcornea Syndrome, also known as cataract-microcornea syndrome, is related to cataract 1, multiple types and cataract, and has symptoms including microcornea, cataract and myopia. An important gene associated with Cataract Microcornea Syndrome is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Cataract Microcornea Syndrome

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Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Symptoms for Cataract Microcornea Syndrome

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Symptoms:

 52 (show all 7)
  • microcornea
  • cataract
  • myopia
  • iris coloboma
  • nystagmus
  • corneal dystrophy
  • corneal opacity

HPO human phenotypes related to Cataract Microcornea Syndrome:

(show all 7)
id Description Frequency HPO Source Accession
1 microcornea hallmark (90%) HP:0000482
2 cataract hallmark (90%) HP:0000518
3 myopia typical (50%) HP:0000545
4 iris coloboma occasional (7.5%) HP:0000612
5 nystagmus occasional (7.5%) HP:0000639
6 corneal dystrophy occasional (7.5%) HP:0001131
7 opacification of the corneal stroma occasional (7.5%) HP:0007759

Drugs & Therapeutics for Cataract Microcornea Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

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Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome23 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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MalaCards organs/tissues related to Cataract Microcornea Syndrome:

34
Eye

Animal Models for Cataract Microcornea Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0CRYBB2, CRYGC, CRYGD, GJA8, MAF

Publications for Cataract Microcornea Syndrome

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Articles related to Cataract Microcornea Syndrome:

idTitleAuthorsYear
1
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. (25406294)
2014
2
Increasing I^B1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. (23159606)
2013
3
A novel mutation in CRYBB1 associated with congenital cataract- microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer. (21972112)
2011
4
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. (20806042)
2010
5
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. (17982426)
2007
6
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. (16735993)
2006

Variations for Cataract Microcornea Syndrome

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Expression for genes affiliated with Cataract Microcornea Syndrome

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Search GEO for disease gene expression data for Cataract Microcornea Syndrome.

Pathways for genes affiliated with Cataract Microcornea Syndrome

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GO Terms for genes affiliated with Cataract Microcornea Syndrome

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Biological processes related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:00508969.7CRYAA, CRYBB2
2lens fiber cell differentiationGO:00703069.5CRYGD, MAF
3camera-type eye developmentGO:00430109.2CRYBA4, CRYBB2, GJA8
4lens development in camera-type eyeGO:00020888.9CRYGD, GJA8, MAF
5visual perceptionGO:00076017.0CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052127.3CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD

Sources for Cataract Microcornea Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet