MCID: CTR014
MIFTS: 26

Cataract Microcornea Syndrome malady

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

Aliases & Classifications for Cataract Microcornea Syndrome

Aliases & Descriptions for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 50 69
Cataract-Microcornea Syndrome 24 56
Microcornea Cataract Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
cataract-microcornea syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA1377
MESH via Orphanet 43 C538287
UMLS via Orphanet 70 C1861829
ICD10 via Orphanet 34 Q13.8

Summaries for Cataract Microcornea Syndrome

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 nystagmus, cataract and corneal opacity. An important gene associated with Cataract Microcornea Syndrome is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Cataract Microcornea Syndrome

Graphical network of the top 20 diseases related to Cataract Microcornea Syndrome:



Diseases related to Cataract Microcornea Syndrome

Symptoms & Phenotypes for Cataract Microcornea Syndrome

Human phenotypes related to Cataract Microcornea Syndrome:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Occasional (29-5%) HP:0000639
2 cataract 56 32 Very frequent (99-80%) HP:0000518
3 corneal opacity 56 32 Occasional (29-5%) HP:0007957
4 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
5 myopia 56 32 Frequent (79-30%) HP:0000545
6 iris coloboma 56 32 Occasional (29-5%) HP:0000612
7 microcornea 56 32 Very frequent (99-80%) HP:0000482

MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CRYBB2 CRYGC CRYGD GJA8 MAF

Drugs & Therapeutics for Cataract Microcornea Syndrome

Search Clinical Trials , NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome 24 GJA8

Anatomical Context for Cataract Microcornea Syndrome

MalaCards organs/tissues related to Cataract Microcornea Syndrome:

39
Eye

Publications for Cataract Microcornea Syndrome

Articles related to Cataract Microcornea Syndrome:

id Title Authors Year
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

Expression for Cataract Microcornea Syndrome

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

Pathways for Cataract Microcornea Syndrome

GO Terms for Cataract Microcornea Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 CRYAA CRYBB2 CRYGD
2 camera-type eye development GO:0043010 9.33 CRYBA4 CRYBB2 GJA8
3 lens fiber cell differentiation GO:0070306 9.26 CRYGD MAF
4 visual perception GO:0007601 9.17 CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD
5 lens development in camera-type eye GO:0002088 9.13 CRYGD GJA8 MAF

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.1 CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD

Sources for Cataract Microcornea Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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