MCID: CTR014
MIFTS: 26

Cataract Microcornea Syndrome malady

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

Aliases & Classifications for Cataract Microcornea Syndrome

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Sources:
24GeneTests, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 48 68
Cataract-Microcornea Syndrome 24 54
 
Microcornea Cataract Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
cataract-microcornea syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA1377
MESH via Orphanet40 C538287
UMLS via Orphanet69 C1861829
ICD10 via Orphanet31 Q13.8

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 9, multiple types, and has symptoms including Array, Array and Array. 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 & Phenotypes for Cataract Microcornea Syndrome

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Human phenotypes related to Cataract Microcornea Syndrome:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcornea64 54 Very frequent (99-80%) HP:0000482
2 cataract64 54 Very frequent (99-80%) HP:0000518
3 myopia64 54 Frequent (79-30%) HP:0000545
4 iris coloboma64 54 Occasional (29-5%) HP:0000612
5 nystagmus64 54 Occasional (29-5%) HP:0000639
6 corneal dystrophy64 54 Occasional (29-5%) HP:0001131
7 corneal opacity64 54 Occasional (29-5%) HP:0007957

MGI Mouse Phenotypes related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2CRYBB2, CRYGC, CRYGD, GJA8, MAF

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 Syndrome24 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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MalaCards organs/tissues related to Cataract Microcornea Syndrome:

36
Eye

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
1lens fiber cell differentiationGO:007030610.2CRYGD, MAF
2lens development in camera-type eyeGO:00020889.8CRYGD, GJA8, MAF
3response to stimulusGO:00508969.6CRYAA, CRYBB2, CRYGD
4camera-type eye developmentGO:00430109.6CRYBA4, CRYBB2, GJA8
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet