MCID: CTR014
MIFTS: 31

Cataract Microcornea Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Cataract Microcornea Syndrome

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Sources:
45NIH Rare Diseases, 65UMLS, 22GeneTests, 51Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 45 65
Microcornea Cataract Syndrome 45 22
 
Cataract-Microcornea Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
cataract-microcornea syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet51 1377
MESH via Orphanet37 C538287
UMLS via Orphanet66 C1861829
ICD10 via Orphanet28 Q13.8

Summaries for Cataract Microcornea Syndrome

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Wikipedia:68 The cataract-microcornea syndrome is the association of congenital cataract and microcornea. more...

MalaCards based summary: Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract and cataract 1, 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, 50kDa). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Cataract Microcornea Syndrome

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Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Symptoms for Cataract Microcornea Syndrome

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Symptoms:

 51 (show all 9)
  • microcornea
  • cataract/lens opacification
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • myopia
  • coloboma of iris
  • corneal clouding/opacity/vascularisation
  • corneal dystrophy
  • nystagmus

HPO human phenotypes related to Cataract Microcornea Syndrome:

(show all 7)
id Description Frequency HPO Source Accession
1 microcornea hallmark (90%) HP:0000482
2 cataract hallmark (90%) HP:0000518
3 myopia typical (50%) HP:0000545
4 iris coloboma occasional (7.5%) HP:0000612
5 nystagmus occasional (7.5%) HP:0000639
6 corneal dystrophy occasional (7.5%) HP:0001131
7 opacification of the corneal stroma occasional (7.5%) HP:0007759

Drugs & Therapeutics for Cataract Microcornea Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

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Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome22 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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MalaCards organs/tissues related to Cataract Microcornea Syndrome:

33
Eye

Animal Models for Cataract Microcornea Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6CRYAA, CRYBB2, CRYGC, CRYGD, GJA8, MAF

Publications for Cataract Microcornea Syndrome

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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

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Clinvar genetic disease variations for Cataract Microcornea Syndrome:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CRYBB2NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs74315489GRCh37Chr 22, 25627584: 25627584
2CRYBB2CRYBB2, 483C-Tsingle nucleotide variantPathogenic
3CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
4CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
5CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
6CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
7CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
8CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271
9GJA8NM_005267.4(GJA8): c.566C> T (p.Pro189Leu)single nucleotide variantPathogenicrs397515627GRCh37Chr 1, 147380648: 147380648
10GJA8NM_005267.4(GJA8): c.262C> T (p.Pro88Ser)single nucleotide variantPathogenicrs80358200GRCh37Chr 1, 147380344: 147380344
11GJA8NM_005267.4(GJA8): c.142G> A (p.Glu48Lys)single nucleotide variantPathogenicrs80358201GRCh37Chr 1, 147380224: 147380224
12GJA8NM_005267.4(GJA8): c.741T> G (p.Ile247Met)single nucleotide variantPathogenicrs80358202GRCh37Chr 1, 147380823: 147380823
13GJA8NM_005267.4(GJA8): c.68G> C (p.Arg23Thr)single nucleotide variantPathogenicrs80358203GRCh37Chr 1, 147380150: 147380150
14GJA8NM_005267.4(GJA8): c.131T> A (p.Val44Glu)single nucleotide variantPathogenicrs80358204GRCh37Chr 1, 147380213: 147380213
15GJA8NM_005267.4(GJA8): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs80358205GRCh37Chr 1, 147380675: 147380675
16GJA8NM_005267.4(GJA8): c.139G> A (p.Asp47Asn)single nucleotide variantPathogenicrs121434643GRCh37Chr 1, 147380221: 147380221

Expression for genes affiliated with Cataract Microcornea Syndrome

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

Pathways for genes affiliated with Cataract Microcornea Syndrome

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GO Terms for genes affiliated with Cataract Microcornea Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:00508969.8CRYAA, CRYBB2
2lens fiber cell differentiationGO:00703069.5CRYGD, MAF
3lens development in camera-type eyeGO:00020889.1CRYGD, GJA8, MAF
4camera-type eye developmentGO:00430108.8CRYBA4, CRYBB2, CRYGC, GJA8
5visual perceptionGO:00076017.1CRYAA, 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:00052127.4CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD

Sources for Cataract Microcornea Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet