MCID: CTR014
MIFTS: 13

Cataract Microcornea Syndrome malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Cataract Microcornea Syndrome

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: 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

About this section
Sources:
43NIH Rare Diseases, 62UMLS, 20GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

cataract microcornea syndrome 43 62
microcornea cataract syndrome 43 20


Related Diseases for Cataract Microcornea Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract10.5
2cataract 1, multiple types10.3
3cataract 13 with adult i phenotype10.2
4cataract 9, multiple types10.2

Symptoms for Cataract Microcornea Syndrome

About this section

Drugs & Therapeutics for Cataract Microcornea Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Cataract Microcornea Syndrome

Search NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome20 GJA8

Anatomical Context for Cataract Microcornea Syndrome

About this section

Animal Models for Cataract Microcornea Syndrome or affiliated genes

About this section

Publications for Cataract Microcornea Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Cataract Microcornea Syndrome:

idTitleAuthorsYear
1
Increasing I^B1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. (23159606)
2013
2
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
3
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. (20806042)
2010
4
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. (17982426)
2007
5
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. (16735993)
2006

Variations for Cataract Microcornea Syndrome

About this section

Expression for genes affiliated with Cataract Microcornea Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Cataract Microcornea Syndrome

About this section

GO Terms for genes affiliated with Cataract Microcornea Syndrome

About this section

Products for genes affiliated with Cataract Microcornea Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract Microcornea Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet