MCID: CTR014
MIFTS: 26

Cataract Microcornea Syndrome malady

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

Aliases & Classifications for Cataract Microcornea Syndrome

About this section
Sources:
24GeneTests, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 47 67
Cataract-Microcornea Syndrome 24 53
 
Microcornea Cataract Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
cataract-microcornea syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA1377
MESH via Orphanet39 C538287
UMLS via Orphanet68 C1861829
ICD10 via Orphanet30 Q13.8

Summaries for Cataract Microcornea Syndrome

About this section
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 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

About this section

Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Symptoms for Cataract Microcornea Syndrome

About this section

Human phenotypes related to Cataract Microcornea Syndrome:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcornea63 53 hallmark (90%) Very frequent (99-80%) HP:0000482
2 cataract63 53 hallmark (90%) Very frequent (99-80%) HP:0000518
3 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
4 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
5 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
6 corneal dystrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0001131
7 opacification of the corneal stroma63 occasional (7.5%) HP:0007759
8 corneal opacity53 Occasional (29-5%)

Drugs & Therapeutics for Cataract Microcornea Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

About this section

Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome24 GJA8

Anatomical Context for Cataract Microcornea Syndrome

About this section

MalaCards organs/tissues related to Cataract Microcornea Syndrome:

35
Eye

Animal Models for Cataract Microcornea Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.9CRYBB2, CRYGC, CRYGD, GJA8, MAF

Publications for Cataract Microcornea Syndrome

About this section

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

About this section

Expression for genes affiliated with Cataract Microcornea Syndrome

About this section
Search GEO for disease gene expression data for Cataract Microcornea Syndrome.

Pathways for genes affiliated with Cataract Microcornea Syndrome

About this section

GO Terms for genes affiliated with Cataract Microcornea Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:007030610.0CRYGD, MAF
2lens development in camera-type eyeGO:00020889.4CRYGD, GJA8, MAF
3response to stimulusGO:00508969.2CRYAA, CRYBB2
4camera-type eye developmentGO:00430108.9CRYBA4, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet