MCID: CTR014
MIFTS: 12

Cataract Microcornea Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Cataract Microcornea Syndrome

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MalaCards based summary: Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract and cataract 1, multiple types. An important gene associated with Cataract Microcornea Syndrome is GJA8 (gap junction protein, alpha 8, 50kDa).

Aliases & Classifications for Cataract Microcornea Syndrome

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Cataract Microcornea Syndrome, Aliases & Descriptions:

Name: Cataract Microcornea Syndrome 42 62
 
Microcornea Cataract Syndrome 42 20


Classifications:

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


Related Diseases for Cataract Microcornea Syndrome

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Diseases related to Cataract Microcornea Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract10.6
2cataract 1, multiple types10.4
3cataract 9, multiple types10.2

Symptoms for Cataract Microcornea Syndrome

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Drugs & Therapeutics for Cataract Microcornea Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cataract Microcornea Syndrome

Search 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 Syndrome20 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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Animal Models for Cataract Microcornea Syndrome or affiliated genes

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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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Expression patterns in normal tissues for genes affiliated with Cataract Microcornea Syndrome

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

Pathways for genes affiliated with Cataract Microcornea Syndrome

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Compounds for genes affiliated with Cataract Microcornea Syndrome

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GO Terms for genes affiliated with Cataract Microcornea Syndrome

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Products for genes affiliated with Cataract Microcornea Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cataract Microcornea Syndrome

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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