MCID: ERL043
MIFTS: 28

Early-Onset Nuclear Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Nuclear Cataract

MalaCards integrated aliases for Early-Onset Nuclear Cataract:

Name: Early-Onset Nuclear Cataract 58

Characteristics:

Orphanet epidemiological data:

58
early-onset nuclear 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
UMLS via Orphanet 71 C0392557 C1112705
Orphanet 58 ORPHA98991

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to disuse amblyopia and cataract 32, multiple types. An important gene associated with Early-Onset Nuclear Cataract is FYCO1 (FYVE And Coiled-Coil Domain Autophagy Adaptor 1), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Early-Onset Nuclear Cataract

Diseases in the Early-Onset Nuclear Cataract family:

Cataract, Age-Related Nuclear Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 disuse amblyopia 10.3 FYCO1 CRYAA
2 cataract 32, multiple types 10.3 CRYBA1 CRYAA
3 leukocoria 10.3 CRYBA1 CRYAA
4 cataract 48 10.3 CRYBA2 CRYAA
5 corneal staphyloma 10.2 CRYBB3 CRYBB1
6 cataract 11, multiple types 10.2 CRYBA1 CRYAA
7 early-onset zonular cataract 10.2 WFS1 FYCO1 CRYAB
8 myopathy, myofibrillar, 2 10.2 CRYAB CRYAA
9 galactosemia ii 10.2 CRYAA BFSP1
10 early-onset partial cataract 10.2 WFS1 FYCO1 CRYAB
11 retinal perforation 10.2 CRYBB2 CRYAA
12 cataract 31, multiple types 10.2 CRYBA1 CRYAA BFSP1
13 lens subluxation 10.2 CRYBA2 CRYAA BFSP1
14 cataract 16, multiple types 10.2 CRYBA1 CRYAB CRYAA
15 night blindness, congenital stationary, type 2a 10.2 CRYBA1 CRYAA
16 scleral staphyloma 10.1 CRYBB3 CRYBA1 CRYAA
17 cataract 24 10.1 CRYBB3 CRYBA2 CRYAA
18 triosephosphate isomerase deficiency 10.1 CRYBB3 CRYBB1 CRYAA
19 senile cataract 10.1 EPHA2 CRYAA BFSP1
20 wolfram syndrome 1 10.1 WFS1 CRYAA
21 autoimmune optic neuritis 10.1 MIP CRYBA1
22 nuclear senile cataract 10.1 CRYGD CRYGC BFSP1
23 sclerocornea 10.0 GJA8 CRYAA
24 eye accommodation disease 10.0 MIP CRYAA BFSP1
25 cataract 14, multiple types 10.0 GJA8 GJA3
26 myofibrillar myopathy 10.0 UNC45B CRYAB CRYAA
27 cataract 28 10.0 NHS CRYAA
28 cataract 6, multiple types 9.9 EPHA2 CRYBB3 CRYBA1 CRYAA
29 intraocular pressure quantitative trait locus 9.9 MIP CRYAB CRYAA
30 early-onset posterior subcapsular cataract 9.9 UNC45B EPHA2 CRYBB2
31 cerulean cataract 9.9 MIP CRYGD CRYBB2
32 oculodentodigital dysplasia 9.9 GJA8 GJA3
33 cataract 9, multiple types 9.9 GJA8 CRYBB2 CRYBB1 CRYAA
34 anterior segment dysgenesis 9.8 GJA8 FYCO1 CRYBB1 CRYAA BFSP1
35 congenital nystagmus 9.8 GJA8 CRYAA
36 aniridia 1 9.7 GJA8 CRYBB2 CRYBB1 CRYAA BFSP1
37 abruzzo-erickson syndrome 9.7 GJA3 CRYBB3 CRYBB2 CRYBB1 CRYAA
38 presbyopia 9.7 MIP CRYGD CRYAB CRYAA BFSP1
39 early-onset sutural cataract 9.7 MIP GJA8 CRYBB2 CRYBA1
40 immature cataract 9.6 MIP GJA8 GJA3 CRYAA
41 early-onset posterior polar cataract 9.5 MIP GJA3 EPHA2 CRYBA1 CRYAB
42 axenfeld-rieger syndrome, type 3 9.5 GJA8 CRYBB2 CRYBB1 CRYBA1 CRYAB CRYAA
43 mature cataract 9.5 MIP GJA8 CRYGD CRYBB2 CRYAA
44 cataract 1, multiple types 9.5 NHS GJA8 GJA3 CRYAA
45 cataract microcornea syndrome 9.5 GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
46 early-onset lamellar cataract 9.5 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
47 amblyopia 9.5 GJA8 GJA3 CRYGD CRYBB1 CRYAA BFSP1
48 erythrokeratodermia variabilis et progressiva 1 9.5 GJA8 GJA3 CRYBB3 CRYBB2 CRYBA1 CRYAA
49 posterior polar cataract 9.4 GJA3 EPHA2 CRYGD CRYBA1 CRYAB CRYAA
50 cataract 30, multiple types 9.4 GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1

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



Diseases related to Early-Onset Nuclear Cataract

Symptoms & Phenotypes for Early-Onset Nuclear Cataract

GenomeRNAi Phenotypes related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.58 EPHA2
2 Decreased viability GR00221-A-3 9.58 EPHA2
3 Decreased viability GR00221-A-4 9.58 EPHA2
4 Decreased viability GR00249-S 9.58 CRYAA CRYBB1 CRYBB3 MIP
5 Decreased viability GR00381-A-1 9.58 GJA3
6 Decreased viability GR00386-A-1 9.58 CRYBB1 CRYBB2 FYCO1 GJA8 NHS
7 Decreased viability GR00402-S-2 9.58 CRYAA CRYBA2 CRYBB1 CRYGC GJA3

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.44 BFSP1 CRYAB CRYBA1 CRYBA2 CRYBB2 CRYGC

Drugs & Therapeutics for Early-Onset Nuclear Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Nuclear Cataract

Genetic Tests for Early-Onset Nuclear Cataract

Anatomical Context for Early-Onset Nuclear Cataract

MalaCards organs/tissues related to Early-Onset Nuclear Cataract:

40
Eye

Publications for Early-Onset Nuclear Cataract

Articles related to Early-Onset Nuclear Cataract:

# Title Authors PMID Year
1
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 6
23531866 2013
2
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 6
21636066 2011
3
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 6
11519376 2001
4
Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. 61
28658846 2017

Variations for Early-Onset Nuclear Cataract

ClinVar genetic disease variations for Early-Onset Nuclear Cataract:

6 (show top 50) (show all 246)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FYCO1 NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) SNV Pathogenic 30645 rs387906963 GRCh37: 3:46009781-46009781
GRCh38: 3:45968289-45968289
2 FYCO1 NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) SNV Pathogenic 30646 rs387906964 GRCh37: 3:46008620-46008620
GRCh38: 3:45967128-45967128
3 FYCO1 FYCO1, IVS9DS, G-T, +1 SNV Pathogenic 30647 GRCh37:
GRCh38:
4 FYCO1 NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) Duplication Pathogenic 30648 rs1240503246 GRCh37: 3:45996822-45996823
GRCh38: 3:45955330-45955331
5 FYCO1 NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) SNV Pathogenic 30649 rs387906965 GRCh37: 3:45972687-45972687
GRCh38: 3:45931195-45931195
6 FYCO1 NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) SNV Pathogenic 30650 rs387906966 GRCh37: 3:46009280-46009280
GRCh38: 3:45967788-45967788
7 FYCO1 NM_024513.4(FYCO1):c.3325_3326CT[1] (p.Cys1110fs) Microsatellite Pathogenic 430962 rs747093432 GRCh37: 3:46003826-46003827
GRCh38: 3:45962334-45962335
8 FYCO1 NM_024513.4(FYCO1):c.2505del (p.Ala836fs) Deletion Pathogenic 660217 rs1575369255 GRCh37: 3:46008321-46008321
GRCh38: 3:45966829-45966829
9 WFS1 NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) SNV Pathogenic 92252 rs398123066 GRCh37: 4:6302907-6302907
GRCh38: 4:6301180-6301180
10 FYCO1 NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) SNV Pathogenic 982778 GRCh37: 3:46009415-46009415
GRCh38: 3:45967923-45967923
11 FYCO1 NM_024513.4(FYCO1):c.793dup (p.Ala265fs) Duplication Likely pathogenic 982651 GRCh37: 3:46010032-46010033
GRCh38: 3:45968540-45968541
12 FYCO1 NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter) SNV Likely pathogenic 693984 rs200557771 GRCh37: 3:46009205-46009205
GRCh38: 3:45967713-45967713
13 FYCO1 NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) SNV Conflicting interpretations of pathogenicity 430961 rs140159323 GRCh37: 3:45965238-45965238
GRCh38: 3:45923746-45923746
14 FYCO1 NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) SNV Conflicting interpretations of pathogenicity 345500 rs748985200 GRCh37: 3:45996860-45996860
GRCh38: 3:45955368-45955368
15 FYCO1 NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) SNV Uncertain significance 648973 rs1460800228 GRCh37: 3:46014662-46014662
GRCh38: 3:45973170-45973170
16 FYCO1 NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) SNV Uncertain significance 650207 rs141828619 GRCh37: 3:46009289-46009289
GRCh38: 3:45967797-45967797
17 FYCO1 NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) SNV Uncertain significance 655448 rs372021321 GRCh37: 3:45965217-45965217
GRCh38: 3:45923725-45923725
18 FYCO1 NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) SNV Uncertain significance 468445 rs150498691 GRCh37: 3:46007969-46007969
GRCh38: 3:45966477-45966477
19 FYCO1 NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 536344 rs72889997 GRCh37: 3:46009574-46009574
GRCh38: 3:45968082-45968082
20 FYCO1 NM_024513.4(FYCO1):c.241G>A (p.Val81Met) SNV Uncertain significance 468441 rs1167055520 GRCh37: 3:46021244-46021244
GRCh38: 3:45979752-45979752
21 FYCO1 NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) SNV Uncertain significance 468450 rs150218695 GRCh37: 3:46010194-46010194
GRCh38: 3:45968702-45968702
22 FYCO1 NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) SNV Uncertain significance 468442 rs751793566 GRCh37: 3:46008136-46008136
GRCh38: 3:45966644-45966644
23 FYCO1 NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) SNV Uncertain significance 468443 rs755356775 GRCh37: 3:46021205-46021205
GRCh38: 3:45979713-45979713
24 FYCO1 NM_024513.4(FYCO1):c.*2286T>C SNV Uncertain significance 345462 rs886058557 GRCh37: 3:45960971-45960971
GRCh38: 3:45919479-45919479
25 FYCO1 NM_024513.4(FYCO1):c.150G>A (p.Glu50=) SNV Uncertain significance 345542 rs886058572 GRCh37: 3:46023074-46023074
GRCh38: 3:45981582-45981582
26 FYCO1 NM_024513.4(FYCO1):c.*709C>T SNV Uncertain significance 345479 rs559852330 GRCh37: 3:45962548-45962548
GRCh38: 3:45921056-45921056
27 FYCO1 NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) SNV Uncertain significance 345530 rs201904937 GRCh37: 3:46009728-46009728
GRCh38: 3:45968236-45968236
28 FYCO1 NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) SNV Uncertain significance 345527 rs886058570 GRCh37: 3:46009682-46009682
GRCh38: 3:45968190-45968190
29 FYCO1 NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) SNV Uncertain significance 345541 rs886058571 GRCh37: 3:46016801-46016801
GRCh38: 3:45975309-45975309
30 FYCO1 NM_024513.4(FYCO1):c.*2757C>A SNV Uncertain significance 345450 rs186073318 GRCh37: 3:45960500-45960500
GRCh38: 3:45919008-45919008
31 FYCO1 NM_024513.4(FYCO1):c.*3283G>A SNV Uncertain significance 345442 rs886058551 GRCh37: 3:45959974-45959974
GRCh38: 3:45918482-45918482
32 FYCO1 NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) SNV Uncertain significance 835238 GRCh37: 3:45996795-45996795
GRCh38: 3:45955303-45955303
33 FYCO1 NM_024513.4(FYCO1):c.*3278G>A SNV Uncertain significance 899964 GRCh37: 3:45959979-45959979
GRCh38: 3:45918487-45918487
34 FYCO1 NM_024513.4(FYCO1):c.*3063G>A SNV Uncertain significance 899965 GRCh37: 3:45960194-45960194
GRCh38: 3:45918702-45918702
35 FYCO1 NM_024513.4(FYCO1):c.*3006G>A SNV Uncertain significance 899966 GRCh37: 3:45960251-45960251
GRCh38: 3:45918759-45918759
36 FYCO1 NM_024513.4(FYCO1):c.*1398G>A SNV Uncertain significance 900039 GRCh37: 3:45961859-45961859
GRCh38: 3:45920367-45920367
37 FYCO1 NM_024513.4(FYCO1):c.*1349T>C SNV Uncertain significance 900040 GRCh37: 3:45961908-45961908
GRCh38: 3:45920416-45920416
38 FYCO1 NM_024513.4(FYCO1):c.*1270T>C SNV Uncertain significance 900041 GRCh37: 3:45961987-45961987
GRCh38: 3:45920495-45920495
39 FYCO1 NM_024513.4(FYCO1):c.*1211C>A SNV Uncertain significance 900042 GRCh37: 3:45962046-45962046
GRCh38: 3:45920554-45920554
40 FYCO1 NM_024513.4(FYCO1):c.*59C>G SNV Uncertain significance 900103 GRCh37: 3:45963198-45963198
GRCh38: 3:45921706-45921706
41 FYCO1 NM_024513.4(FYCO1):c.4251+11G>A SNV Uncertain significance 900104 GRCh37: 3:45972552-45972552
GRCh38: 3:45931060-45931060
42 FYCO1 NM_024513.4(FYCO1):c.3269+10A>T SNV Uncertain significance 900168 GRCh37: 3:46005818-46005818
GRCh38: 3:45964326-45964326
43 FYCO1 NM_024513.4(FYCO1):c.3151-12G>A SNV Uncertain significance 900170 GRCh37: 3:46005958-46005958
GRCh38: 3:45964466-45964466
44 FYCO1 NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) SNV Uncertain significance 900171 GRCh37: 3:46007779-46007779
GRCh38: 3:45966287-45966287
45 FYCO1 NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly) SNV Uncertain significance 900287 GRCh37: 3:46009982-46009982
GRCh38: 3:45968490-45968490
46 FYCO1 NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr) SNV Uncertain significance 900288 GRCh37: 3:46010033-46010033
GRCh38: 3:45968541-45968541
47 FYCO1 NM_024513.4(FYCO1):c.*2771A>G SNV Uncertain significance 901145 GRCh37: 3:45960486-45960486
GRCh38: 3:45918994-45918994
48 FYCO1 NM_024513.4(FYCO1):c.*1074C>T SNV Uncertain significance 901200 GRCh37: 3:45962183-45962183
GRCh38: 3:45920691-45920691
49 FYCO1 NM_024513.4(FYCO1):c.*988C>A SNV Uncertain significance 901201 GRCh37: 3:45962269-45962269
GRCh38: 3:45920777-45920777
50 FYCO1 NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) SNV Uncertain significance 901270 GRCh37: 3:45972733-45972733
GRCh38: 3:45931241-45931241

Expression for Early-Onset Nuclear Cataract

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

Pathways for Early-Onset Nuclear Cataract

Pathways related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 WFS1 CRYAB CRYAA

GO Terms for Early-Onset Nuclear Cataract

Cellular components related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 connexin complex GO:0005922 8.96 GJA8 GJA3
2 gap junction GO:0005921 8.8 MIP GJA8 GJA3

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.7 WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
2 camera-type eye development GO:0043010 9.5 GJA8 CRYBB2 CRYAB
3 lens development in camera-type eye GO:0002088 9.4 UNC45B NHS MIP GJA8 CRYGD CRYGC
4 negative regulation of cytokine production GO:0001818 9.37 EPHA2 CRYBA1
5 gap junction-mediated intercellular transport GO:1990349 9.33 MIP GJA8 GJA3
6 negative regulation of intracellular transport GO:0032387 9.26 CRYAB CRYAA

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.36 MIP CRYGD CRYGC CRYBB3 CRYBB2 CRYBB1
2 structural molecule activity GO:0005198 9.33 CRYBB2 CRYAB CRYAA
3 gap junction channel activity GO:0005243 8.96 GJA8 GJA3

Sources for Early-Onset Nuclear 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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