MCID: CTR014
MIFTS: 29

Cataract Microcornea Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Cataract Microcornea Syndrome

MalaCards integrated aliases for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 49 69
Microcornea Cataract Syndrome 49
Cataract-Microcornea Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
cataract-microcornea syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA1377
MESH via Orphanet 42 C538287
UMLS via Orphanet 70 C1861829
ICD10 via Orphanet 33 Q13.8
UMLS 69 C1861829

Summaries for Cataract Microcornea Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1377Disease definitionCataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.EpidemiologyTo date, more than 15 families showing microcornea-cataract syndrome have been described.Clinical descriptionClinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly (see this term).EtiologyThere is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8).Diagnostic methodsOphthalmologic and general examination allows other syndromes to be excluded.Genetic counselingTransmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described.Management and treatmentCataract surgery has to be performed in order to restore visual acuity and avoid amblyopia.PrognosisVisual acuity after uncomplicated cataract extraction is relatively good.Visit the Orphanet disease page for more resources. Last updated: 10/25/2007

MalaCards based summary : Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract 9, multiple types and cataract, 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 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:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcornea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000482
2 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
4 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
5 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 corneal dystrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001131
7 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957

MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

43
# 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

Anatomical Context for Cataract Microcornea Syndrome

MalaCards organs/tissues related to Cataract Microcornea Syndrome:

38
Eye

Publications for Cataract Microcornea Syndrome

Articles related to Cataract Microcornea Syndrome:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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