MCID: ERL027
MIFTS: 31

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 58

Characteristics:

Orphanet epidemiological data:

58
early-onset non-syndromic cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q12.0
Orphanet 58 ORPHA91492

Summaries for Early-Onset Non-Syndromic Cataract

MalaCards based summary : Early-Onset Non-Syndromic Cataract is related to early-onset posterior subcapsular cataract and cataract 32, multiple types. An important gene associated with Early-Onset Non-Syndromic Cataract is CRYBA1 (Crystallin Beta A1). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Early-Onset Non-Syndromic Cataract

Diseases related to Early-Onset Non-Syndromic Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 early-onset posterior subcapsular cataract 10.4 EPHA2 CHMP4B
2 cataract 32, multiple types 10.4 CRYBA1 CHMP4B
3 cataract 17, multiple types 10.4 CRYBB1 CRYBA4
4 autoimmune optic neuritis 10.4 MIP CRYBA1
5 microphthalmia, isolated 1 10.4 CRYBB1 CRYBA4
6 cerulean cataract 10.4 MIP MAF
7 scleral staphyloma 10.4 CRYBB3 CRYBA1
8 immature cataract 10.3 MIP CRYGB
9 cataract 11, multiple types 10.3 CRYBA1 CHMP4B
10 mature cataract 10.3 MIP CRYGS
11 early-onset zonular cataract 10.3 FYCO1 CRYAB
12 cataract 24 10.3 CRYGB CRYBB3
13 cataract 31, multiple types 10.3 CRYBA1 CHMP4B BFSP1
14 morgagni cataract 10.3 CRYGS CRYGB
15 aniseikonia 10.3 MAF FOXE3
16 early-onset sutural cataract 10.3 MIP CRYGS CRYBA1
17 leukocoria 10.3 GCNT2 CRYBA1
18 early-onset partial cataract 10.3 FYCO1 CRYAB
19 senile cataract 10.3 EPHA2 CRYGS BFSP1
20 nance-horan syndrome 10.3 CRYBB3 CRYBB1 CRYBA4
21 isolated microphthalmia 10.3 FOXE3 CRYBA4
22 congenital aphakia 10.3 FOXE3 CRYGB
23 ayme-gripp syndrome 10.3 MAF DYNLRB2-AS1
24 cataract 30, multiple types 10.3 MAF CRYGC CRYBB1
25 porencephaly 10.3 CRYGB CRYBB3 CRYBA4
26 axenfeld-rieger syndrome 10.2 MAF FOXE3 CRYGS
27 retinal perforation 10.2 CRYGS CRYBA4
28 triosephosphate isomerase deficiency 10.2 CRYBB3 CRYBB1
29 cataract 6, multiple types 10.2 EPHA2 CRYBB3 CRYBA1 CHMP4B
30 cataract 16, multiple types 10.2 HSF4 CRYBA1 CRYAB CHMP4B
31 persistent hyperplastic primary vitreous 10.2 FOXE3 CRYGS CRYBA1
32 night blindness, congenital stationary, type 2a 10.2 CRYGB CRYBA1
33 galactosemia ii 10.2 CRYGS BFSP1
34 cataract microcornea syndrome 10.2 MAF CRYGC CRYBB1 CRYBA4
35 abruzzo-erickson syndrome 10.2 CRYGB CRYBB3 CRYBB1 CRYBA4
36 presbyopia 10.2 MIP CRYGS CRYGB BFSP1
37 early-onset posterior polar cataract 10.2 MIP EPHA2 CRYBA1 CRYAB CHMP4B
38 disuse amblyopia 10.1 FYCO1 FOXE3 CRYGS CHMP4B
39 nuclear senile cataract 10.1 CRYGS CRYGC CRYGB BFSP1
40 amblyopia 10.1 FOXE3 CRYGS CRYBB1 BFSP1
41 cataract 21, multiple types 10.1 MAF DYNLRB2-AS1
42 posterior polar cataract 10.1 HSF4 EPHA2 CRYBA1 CRYAB CHMP4B BFSP1
43 coloboma of macula 10.1 MAF FOXE3 CRYBA4
44 lens subluxation 10.0 CRYBA4 BFSP1
45 eye accommodation disease 10.0 MIP FOXE3 CRYGS CRYGB BFSP1
46 anterior segment dysgenesis 10.0 MAF FYCO1 FOXE3 CRYBB1 CRYBA4 BFSP1
47 cataract 44 9.9 MIP HSF4 GCNT2 FYCO1 EPHA2 CRYGB
48 axenfeld-rieger syndrome, type 3 9.9 MAF FOXE3 CRYGS CRYBB1 CRYBA1 CRYAB
49 aniridia 1 9.8 MAF HSF4 FOXE3 CRYGS CRYBB1 CRYBA4
50 early-onset lamellar cataract 9.8 MIP HSF4 CRYGS CRYGC CRYGB CRYBA4

Graphical network of the top 20 diseases related to Early-Onset Non-Syndromic Cataract:



Diseases related to Early-Onset Non-Syndromic Cataract

Symptoms & Phenotypes for Early-Onset Non-Syndromic Cataract

MGI Mouse Phenotypes related to Early-Onset Non-Syndromic Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 BFSP1 CRYAB CRYBA1 CRYGB CRYGC CRYGS

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:

40
Eye

Publications for Early-Onset Non-Syndromic Cataract

Articles related to Early-Onset Non-Syndromic Cataract:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. 6
31061923 2019
2
Congenital cataract with LSS gene mutations: a new case report. 6
29016354 2017
3
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 6
28450710 2017
4
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
5
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 6
27218149 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. 6
26788539 2016
7
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 6
25804400 2015
8
Lanosterol reverses protein aggregation in cataracts. 6
26200341 2015
9
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 6
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. 6
24664492 2014
11
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 6
23531866 2013
12
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 6
23863954 2013
13
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 6
23508780 2013
14
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 6
24379646 2013
15
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 6
22415731 2012
16
The transcription factor c-Maf controls touch receptor development and function. 6
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. 6
22052681 2012
18
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 6
22876111 2012
19
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 6
22550389 2012
20
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 6
22876138 2012
21
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 6
22312188 2012
22
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. 6
23288985 2012
23
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 6
21681855 2011
24
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 6
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. 6
21972112 2011
26
A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 6
20577656 2010
27
X-linked cataract and Nance-Horan syndrome are allelic disorders. 6
19414485 2009
28
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 6
19306328 2009
29
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 6
19461931 2009
30
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 6
19126778 2009
31
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 6
19262743 2009
32
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 6
19204787 2009
33
Crystallin gene mutations in Indian families with inherited pediatric cataract. 6
18587492 2008
34
A missense mutation in LIM2 causes autosomal recessive congenital cataract. 6
18596884 2008
35
The EPHA2 gene is associated with cataracts linked to chromosome 1p. 6
19005574 2008
36
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 6
17982426 2007
37
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 6
17701905 2007
38
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. 6
17893665 2007
39
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 6
17460281 2007
40
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 6
17225135 2007
41
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. 6
16960806 2006
42
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 6
16877416 2006
43
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. 6
16564824 2006
44
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 6
16505043 2006
45
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. 6
16470690 2006
46
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. 6
16204255 2005
47
EphrinA1 repulsive response is regulated by an EphA2 tyrosine phosphatase. 6
16051609 2005
48
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 6
16141006 2005
49
CRYBB1 mutation associated with congenital cataract and microcornea. 6
16110300 2005
50
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. 6
15965161 2005

Variations for Early-Onset Non-Syndromic Cataract

ClinVar genetic disease variations for Early-Onset Non-Syndromic Cataract:

6 (show top 50) (show all 1029)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BFSP1 NM_001195.5(BFSP1):c.736-1384_957-66del Deletion Pathogenic 6497 20:17477734-17481069 20:17497089-17500424
2 BFSP2-AS1 NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) SNV Pathogenic 6583 rs104893685 3:133169276-133169276 3:133450432-133450432
3 BFSP2-AS1 NM_003571.4(BFSP2):c.694_696GAA[1] (p.Glu233del) Microsatellite Pathogenic 6584 rs121908938 3:133167452-133167454 3:133448608-133448610
4 PITX3 NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) SNV Pathogenic 6938 rs104894175 10:103991800-103991800 10:102232043-102232043
5 MAF NM_005360.5(MAF):c.863G>C (p.Arg288Pro) SNV Pathogenic 13231 rs121917735 16:79632937-79632937 16:79599040-79599040
6 MAF NM_005360.5(MAF):c.890A>G (p.Lys297Arg) SNV Pathogenic 13232 rs121917736 16:79632910-79632910 16:79599013-79599013
7 EPHA2 NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp) SNV Pathogenic 13258 rs137853199 1:16451799-16451799 1:16125304-16125304
8 EPHA2 NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) SNV Pathogenic 13259 rs137853200 1:16455935-16455935 1:16129440-16129440
9 EPHA2 EPHA2, 2-BP DEL, 2915TG Deletion Pathogenic 13260
10 EPHA2 EPHA2, IVS16, G-A, -9 SNV Pathogenic 13261
11 LIM2 NM_001161748.2(LIM2):c.313T>G (p.Phe105Val) SNV Pathogenic 14356 rs121913555 19:51885684-51885684 19:51382430-51382430
12 CRYBA4 NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser) SNV Pathogenic 16946 rs74315486 22:27021567-27021567 22:26625603-26625603
13 CRYBA4 NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro) SNV Pathogenic 16947 rs74315487 22:27021492-27021492 22:26625528-26625528
14 CRYBB3 NM_004076.5(CRYBB3):c.493G>C (p.Gly165Arg) SNV Pathogenic 16948 rs74315490 22:25603036-25603036 22:25207069-25207069
15 CRYBA1 CRYBA1, 3-BP DEL, 278GGA Deletion Pathogenic 16952
16 CRYAB NM_001289808.2(CRYAB):c.450del (p.Lys150fs) Deletion Pathogenic 16954 rs1566402656 11:111779566-111779566 11:111908842-111908842
17 GJA3 NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) SNV Pathogenic 16978 rs121917823 13:20717240-20717240 13:20143101-20143101
18 GJA3 NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) SNV Pathogenic 16980 rs121917825 13:20716868-20716868 13:20142729-20142729
19 GJA3 NM_021954.4(GJA3):c.227G>A (p.Arg76His) SNV Pathogenic 16981 rs121917827 13:20717201-20717201 13:20143062-20143062
20 CRYAB NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) SNV Pathogenic 41927 rs387907336 11:111779598-111779598 11:111908874-111908874
21 CRYAB NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) SNV Pathogenic 41928 rs387907337 11:111782391-111782391 11:111911667-111911667
22 CRYAB NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) SNV Pathogenic 41929 rs387907338 11:111782283-111782283 11:111911559-111911559
23 GJA3 NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) SNV Pathogenic 50941 rs140332366 13:20716865-20716865 13:20142726-20142726
24 GJA3 NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) SNV Pathogenic 50942 rs397514703 13:20717423-20717423 13:20143284-20143284
25 GJA3 NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) SNV Pathogenic 50943 rs140332366 13:20716865-20716865 13:20142726-20142726
26 GJA3 NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) SNV Pathogenic 50944 rs397514704 13:20716812-20716812 13:20142673-20142673
27 GJA3 NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) SNV Pathogenic 50945 rs398122937 13:20717001-20717001 13:20142862-20142862
28 CRYBB3 NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) SNV Pathogenic 143233 rs587777601 22:25603124-25603124 22:25207157-25207157
29 MAF NM_005360.5(MAF):c.895C>A (p.Arg299Ser) SNV Pathogenic 190235 rs786205221 16:79632905-79632905 16:79599008-79599008
30 MAF NM_005360.5(MAF):c.908A>C (p.Gln303Pro) SNV Pathogenic 190236 rs786205222 16:79632892-79632892 16:79598995-79598995
31 LIM2 NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu) SNV Pathogenic 224327 rs869312732 19:51883516-51883516 19:51380262-51380262
32 FOXE3 NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys) SNV Pathogenic 372170 rs1057518738 1:47882294-47882294 1:47416622-47416622
33 BFSP1 NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn) SNV Pathogenic 425558 rs1085307126 20:17477583-17477583 20:17496938-17496938
34 BFSP1 NM_001195.5(BFSP1):c.1042+3A>G SNV Pathogenic 425559 rs1085307127 20:17477580-17477580 20:17496935-17496935
35 CRYBA4 NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp) SNV Pathogenic 427575 rs1114167427 22:27021476-27021476 22:26625512-26625512
36 GJA3 NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) SNV Pathogenic 217339 rs864309691 13:20717252-20717252 13:20143113-20143113
37 BFSP1 NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter) SNV Pathogenic 838855 20:17479523-17479523 20:17498878-17498878
38 CRYBA1 NM_005208.4(CRYBA1):c.607_608del (p.Gln203fs) Deletion Pathogenic 560445 rs1567671947 17:27581326-27581327 17:29254308-29254309
39 CRYGB NM_005210.4(CRYGB):c.72del (p.Asn25fs) Deletion Pathogenic 41987 rs387907342 2:209010678-209010678 2:208145954-208145954
40 GJA3 NM_021954.4(GJA3):c.130G>A (p.Val44Met) SNV Pathogenic 639312 rs981126461 13:20717298-20717298 13:20143159-20143159
41 EPHA2 NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) SNV Pathogenic 665755 rs1569602837 1:16474937-16474937 1:16148442-16148442
42 CRYBA1 NM_005208.4(CRYBA1):c.269_271GAG[1] (p.Gly91del) Microsatellite Pathogenic 425127 rs1064797219 17:27579135-27579137 17:29252117-29252119
43 EPHA2 NM_004431.5(EPHA2):c.2826-9G>A SNV Pathogenic 280146 rs886041412 1:16451824-16451824 1:16125329-16125329
44 CRYBA1 NM_005208.4(CRYBA1):c.215+1G>T SNV Pathogenic 572809 rs1264025914 17:27577319-27577319 17:29250301-29250301
45 EPHA2 NM_004431.5(EPHA2):c.2913_2914TG[1] (p.Val972fs) Microsatellite Pathogenic 849920 1:16451725-16451726 1:16125230-16125231
46 GJA3 NM_021954.4(GJA3):c.1137dup (p.Ser380fs) Duplication Pathogenic 16979 rs1593332981 13:20716290-20716291 13:20142151-20142152
47 CRYGC NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) SNV Pathogenic 66074 rs398122392 2:208992982-208992982 2:208128258-208128258
48 CRYGC NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) SNV Pathogenic 66075 rs398122944 2:208992981-208992981 2:208128257-208128257
49 CRYGC NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) SNV Pathogenic 66076 rs137853924 2:208993067-208993067 2:208128343-208128343
50 CRYGC NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) SNV Pathogenic 68475 rs587778872 2:208992955-208992955 2:208128231-208128231

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

Biological processes related to Early-Onset Non-Syndromic Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 MIP HSF4 CRYGS CRYGC CRYGB CRYBB3
2 eye development GO:0001654 9.54 HSF4 FOXE3 CRYGB
3 camera-type eye development GO:0043010 9.46 HSF4 FOXE3 CRYBA4 CRYAB
4 lens fiber cell development GO:0070307 9.43 CRYGB BFSP1
5 cell development GO:0048468 9.43 MAF HSF4 FOXE3
6 lens fiber cell morphogenesis GO:0070309 9.4 EPHA2 CRYGB
7 lens development in camera-type eye GO:0002088 9.36 MIP MAF FOXE3 CRYGS CRYGC CRYGB
8 maintenance of lens transparency GO:0036438 9.32 GCNT2 CHMP4B

Molecular functions related to Early-Onset Non-Syndromic Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.32 MIP CRYGS CRYGC CRYGB CRYBB3 CRYBB1

Sources for Early-Onset Non-Syndromic Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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