MCID: ERL027
MIFTS: 10

Early-Onset Non-Syndromic Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Non-Syndromic Cataract

MalaCards integrated aliases for Early-Onset Non-Syndromic Cataract:

Name: Early-Onset Non-Syndromic Cataract 59

Characteristics:

Orphanet epidemiological data:

59
early-onset non-syndromic cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q12.0
Orphanet 59 ORPHA91492

Summaries for Early-Onset Non-Syndromic Cataract

MalaCards based summary : Early-Onset Non-Syndromic Cataract Affiliated tissues include eye.

Related Diseases for Early-Onset Non-Syndromic Cataract

Symptoms & Phenotypes for Early-Onset Non-Syndromic Cataract

Drugs & Therapeutics for Early-Onset Non-Syndromic Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Non-Syndromic Cataract

Genetic Tests for Early-Onset Non-Syndromic Cataract

Anatomical Context for Early-Onset Non-Syndromic Cataract

MalaCards organs/tissues related to Early-Onset Non-Syndromic Cataract:

41
Eye

Publications for Early-Onset Non-Syndromic Cataract

Articles related to Early-Onset Non-Syndromic Cataract:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Congenital cataract with LSS gene mutations: a new case report. 71
29016354 2017
2
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 71
28450710 2017
3
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
4
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 71
27218149 2016
5
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 71
26694549 2016
6
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. 71
26788539 2016
7
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 71
25804400 2015
8
Lanosterol reverses protein aggregation in cataracts. 71
26200341 2015
9
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 71
24549050 2014
10
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. 71
24664492 2014
11
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 71
23531866 2013
12
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 71
23863954 2013
13
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 71
23508780 2013
14
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 71
24379646 2013
15
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 71
22415731 2012
16
The transcription factor c-Maf controls touch receptor development and function. 71
22345400 2012
17
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. 71
22052681 2012
18
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 71
22876111 2012
19
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 71
22876138 2012
20
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 71
22550389 2012
21
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 71
22312188 2012
22
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. 71
23288985 2012
23
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 71
21681855 2011
24
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 71
21636066 2011
25
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. 71
21972112 2011
26
A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 71
20577656 2010
27
X-linked cataract and Nance-Horan syndrome are allelic disorders. 71
19414485 2009
28
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 71
19306328 2009
29
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 71
19461931 2009
30
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 71
19126778 2009
31
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 71
19262743 2009
32
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 71
19204787 2009
33
Crystallin gene mutations in Indian families with inherited pediatric cataract. 71
18587492 2008
34
A missense mutation in LIM2 causes autosomal recessive congenital cataract. 71
18596884 2008
35
The EPHA2 gene is associated with cataracts linked to chromosome 1p. 71
19005574 2008
36
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 71
17982426 2007
37
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 71
17701905 2007
38
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. 71
17893665 2007
39
A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity. 71
17679936 2007
40
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 71
17460281 2007
41
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 71
17225135 2007
42
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. 71
16960806 2006
43
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 71
16877416 2006
44
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. 71
16564824 2006
45
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 71
16505043 2006
46
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. 71
16470690 2006
47
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. 71
16204255 2005
48
EphrinA1 repulsive response is regulated by an EphA2 tyrosine phosphatase. 71
16051609 2005
49
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 71
16141006 2005
50
CRYBB1 mutation associated with congenital cataract and microcornea. 71
16110300 2005

Variations for Early-Onset Non-Syndromic Cataract

Expression for Early-Onset Non-Syndromic Cataract

Search GEO for disease gene expression data for Early-Onset Non-Syndromic Cataract.

Pathways for Early-Onset Non-Syndromic Cataract

GO Terms for Early-Onset Non-Syndromic Cataract

Sources for Early-Onset Non-Syndromic Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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