MCID: CTR014
MIFTS: 17

Cataract Microcornea Syndrome malady

Summaries for Cataract Microcornea Syndrome

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33MalaCards
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MalaCards: Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract, congenital and micro syndrome. An important gene associated with Cataract Microcornea Syndrome is GJA8 (gap junction protein, alpha 8, 50kDa). The compound valine have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Aliases & Classifications for Cataract Microcornea Syndrome

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43NIH Rare Diseases, 61UMLS, 20GeneTests
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Aliases & Descriptions:

cataract microcornea syndrome 43 61
microcornea cataract syndrome 43 20


Related Diseases for Cataract Microcornea Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the congenital cataract microcornea with corneal opacity family:

cataract microcornea syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract, congenital30.6GJA8, MAF, CRYAA, CRYBB1
2micro syndrome10.5
3cataract 1, multiple types10.3
4cataract 13 with adult i phenotype10.2
5cataract 9, multiple types10.2
6microphthalmia10.0GJA8, CRYAA
7cataract 4, multiple types10.0CRYAA, GJA8
8cataracts, autosomal dominant10.0CRYBB1, GJA8, CRYAA
9senile cataract10.0CRYBB1, CRYAA, GJA8
10cataract10.0MAF, GJA8, CRYBB1, CRYAA

Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Clinical Features for Cataract Microcornea Syndrome

Drugs & Therapeutics for Cataract Microcornea Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cataract Microcornea Syndrome

Search CenterWatch for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

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20GeneTests
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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

Animal Models for Cataract Microcornea Syndrome or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6GJA8, MAF, CRYAA

Publications for Cataract Microcornea Syndrome

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51PubMed
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Articles related to Cataract Microcornea Syndrome:

(show all 12)
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
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (18304496)
2008
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
7
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. (16458719)
2006
8
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. (12543751)
2003
9
X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. (8958326)
1996
10
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. (8249951)
1993
11
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. (1969135)
1990
12
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. (2576480)
1989

Genetic Variations for Cataract Microcornea Syndrome

Expression for genes affiliated with Cataract Microcornea Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Cataract Microcornea Syndrome

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45Novoseek
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Compounds related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valine459.1GJA8, CRYAA

GO Terms for genes affiliated with Cataract Microcornea Syndrome

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16Gene Ontology
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Biological processes related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.1GJA8, CRYAA
2visual perceptionGO:0076018.2GJA8, CRYAA, CRYBB1

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052129.0CRYAA, CRYBB1

Products for genes affiliated with Cataract Microcornea Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract Microcornea Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet