MCID: ERL041
MIFTS: 21

Early-Onset Zonular Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Zonular Cataract

MalaCards integrated aliases for Early-Onset Zonular Cataract:

Name: Early-Onset Zonular Cataract 20 58

Characteristics:

Orphanet epidemiological data:

58
early-onset zonular 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:

MESH via Orphanet 45 C535342
ICD10 via Orphanet 33 Q12.0
Orphanet 58 ORPHA98995

Summaries for Early-Onset Zonular Cataract

MalaCards based summary : Early-Onset Zonular Cataract is related to cataract and early-onset partial cataract. An important gene associated with Early-Onset Zonular 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.

Related Diseases for Early-Onset Zonular Cataract

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

# Related Disease Score Top Affiliating Genes
1 cataract 9.3 WFS1 FYCO1 CRYAB
2 early-onset partial cataract 9.3 WFS1 FYCO1 CRYAB
3 early-onset nuclear cataract 9.2 WFS1 FYCO1 CRYAB
4 early-onset non-syndromic cataract 9.1 WFS1 FYCO1 CRYAB

Symptoms & Phenotypes for Early-Onset Zonular Cataract

Drugs & Therapeutics for Early-Onset Zonular Cataract

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

Genetic Tests for Early-Onset Zonular Cataract

Anatomical Context for Early-Onset Zonular Cataract

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

40
Eye

Publications for Early-Onset Zonular Cataract

Articles related to Early-Onset Zonular 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
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 6
19461931 2009
4
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 6
16877416 2006
5
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 6
16505043 2006
6
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 6
11577372 2001
7
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 6
11519376 2001

Variations for Early-Onset Zonular Cataract

ClinVar genetic disease variations for Early-Onset Zonular Cataract:

6 (show top 50) (show all 266)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYAB NM_001289808.2(CRYAB):c.450del (p.Lys150fs) Deletion Pathogenic 16954 rs1566402656 GRCh37: 11:111779566-111779566
GRCh38: 11:111908842-111908842
2 CRYAB NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) SNV Pathogenic 41927 rs387907336 GRCh37: 11:111779598-111779598
GRCh38: 11:111908874-111908874
3 CRYAB NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) SNV Pathogenic 41928 rs387907337 GRCh37: 11:111782391-111782391
GRCh38: 11:111911667-111911667
4 FYCO1 NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) SNV Pathogenic 30645 rs387906963 GRCh37: 3:46009781-46009781
GRCh38: 3:45968289-45968289
5 FYCO1 NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) SNV Pathogenic 30646 rs387906964 GRCh37: 3:46008620-46008620
GRCh38: 3:45967128-45967128
6 FYCO1 NM_024513.4(FYCO1):c.3325_3326CT[1] (p.Cys1110fs) Microsatellite Pathogenic 430962 rs747093432 GRCh37: 3:46003826-46003827
GRCh38: 3:45962334-45962335
7 FYCO1 NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) SNV Pathogenic 30650 rs387906966 GRCh37: 3:46009280-46009280
GRCh38: 3:45967788-45967788
8 FYCO1 NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) SNV Pathogenic 30649 rs387906965 GRCh37: 3:45972687-45972687
GRCh38: 3:45931195-45931195
9 FYCO1 NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) Duplication Pathogenic 30648 rs1240503246 GRCh37: 3:45996822-45996823
GRCh38: 3:45955330-45955331
10 FYCO1 FYCO1, IVS9DS, G-T, +1 SNV Pathogenic 30647 GRCh37:
GRCh38:
11 CRYAB NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) SNV Pathogenic 41929 rs387907338 GRCh37: 11:111782283-111782283
GRCh38: 11:111911559-111911559
12 FYCO1 NM_024513.4(FYCO1):c.2505del (p.Ala836fs) Deletion Pathogenic 660217 rs1575369255 GRCh37: 3:46008321-46008321
GRCh38: 3:45966829-45966829
13 FYCO1 NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) SNV Pathogenic 982778 GRCh37: 3:46009415-46009415
GRCh38: 3:45967923-45967923
14 WFS1 NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) SNV Pathogenic 92252 rs398123066 GRCh37: 4:6302907-6302907
GRCh38: 4:6301180-6301180
15 FYCO1 NM_024513.4(FYCO1):c.793dup (p.Ala265fs) Duplication Likely pathogenic 982651 GRCh37: 3:46010032-46010033
GRCh38: 3:45968540-45968541
16 FYCO1 NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter) SNV Likely pathogenic 693984 rs200557771 GRCh37: 3:46009205-46009205
GRCh38: 3:45967713-45967713
17 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
18 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
19 FYCO1 NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) SNV Uncertain significance 468443 rs755356775 GRCh37: 3:46021205-46021205
GRCh38: 3:45979713-45979713
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.*2757C>A SNV Uncertain significance 345450 rs186073318 GRCh37: 3:45960500-45960500
GRCh38: 3:45919008-45919008
24 FYCO1 NM_024513.4(FYCO1):c.2552G>A (p.Arg851His) SNV Uncertain significance 345509 rs145893350 GRCh37: 3:46008274-46008274
GRCh38: 3:45966782-45966782
25 FYCO1 NM_024513.4(FYCO1):c.*1185A>T SNV Uncertain significance 345473 rs538032998 GRCh37: 3:45962072-45962072
GRCh38: 3:45920580-45920580
26 FYCO1 NM_024513.4(FYCO1):c.*3502A>T SNV Uncertain significance 345438 rs753979161 GRCh37: 3:45959755-45959755
GRCh38: 3:45918263-45918263
27 FYCO1 NM_024513.4(FYCO1):c.*176C>T SNV Uncertain significance 345490 rs544729621 GRCh37: 3:45963081-45963081
GRCh38: 3:45921589-45921589
28 FYCO1 NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp) SNV Uncertain significance 345538 rs142017802 GRCh37: 3:46010078-46010078
GRCh38: 3:45968586-45968586
29 FYCO1 NM_024513.4(FYCO1):c.*709C>T SNV Uncertain significance 345479 rs559852330 GRCh37: 3:45962548-45962548
GRCh38: 3:45921056-45921056
30 FYCO1 NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) SNV Uncertain significance 345530 rs201904937 GRCh37: 3:46009728-46009728
GRCh38: 3:45968236-45968236
31 FYCO1 NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) SNV Uncertain significance 345527 rs886058570 GRCh37: 3:46009682-46009682
GRCh38: 3:45968190-45968190
32 FYCO1 NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) SNV Uncertain significance 345541 rs886058571 GRCh37: 3:46016801-46016801
GRCh38: 3:45975309-45975309
33 FYCO1 NM_024513.4(FYCO1):c.*3283G>A SNV Uncertain significance 345442 rs886058551 GRCh37: 3:45959974-45959974
GRCh38: 3:45918482-45918482
34 FYCO1 NM_024513.4(FYCO1):c.*2286T>C SNV Uncertain significance 345462 rs886058557 GRCh37: 3:45960971-45960971
GRCh38: 3:45919479-45919479
35 FYCO1 NM_024513.4(FYCO1):c.150G>A (p.Glu50=) SNV Uncertain significance 345542 rs886058572 GRCh37: 3:46023074-46023074
GRCh38: 3:45981582-45981582
36 FYCO1 NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 536344 rs72889997 GRCh37: 3:46009574-46009574
GRCh38: 3:45968082-45968082
37 FYCO1 NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) SNV Uncertain significance 648973 rs1460800228 GRCh37: 3:46014662-46014662
GRCh38: 3:45973170-45973170
38 FYCO1 NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) SNV Uncertain significance 650207 rs141828619 GRCh37: 3:46009289-46009289
GRCh38: 3:45967797-45967797
39 FYCO1 NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) SNV Uncertain significance 655448 rs372021321 GRCh37: 3:45965217-45965217
GRCh38: 3:45923725-45923725
40 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) SNV Uncertain significance 571646 rs145768025 GRCh37: 11:111782334-111782334
GRCh38: 11:111911610-111911610
41 FYCO1 NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) SNV Uncertain significance 468445 rs150498691 GRCh37: 3:46007969-46007969
GRCh38: 3:45966477-45966477
42 FYCO1 NM_024513.4(FYCO1):c.*1235C>A SNV Uncertain significance 345472 rs886058560 GRCh37: 3:45962022-45962022
GRCh38: 3:45920530-45920530
43 FYCO1 NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) SNV Uncertain significance 835238 GRCh37: 3:45996795-45996795
GRCh38: 3:45955303-45955303
44 FYCO1 NM_024513.4(FYCO1):c.*3278G>A SNV Uncertain significance 899964 GRCh37: 3:45959979-45959979
GRCh38: 3:45918487-45918487
45 FYCO1 NM_024513.4(FYCO1):c.*3063G>A SNV Uncertain significance 899965 GRCh37: 3:45960194-45960194
GRCh38: 3:45918702-45918702
46 FYCO1 NM_024513.4(FYCO1):c.*3006G>A SNV Uncertain significance 899966 GRCh37: 3:45960251-45960251
GRCh38: 3:45918759-45918759
47 FYCO1 NM_024513.4(FYCO1):c.*1398G>A SNV Uncertain significance 900039 GRCh37: 3:45961859-45961859
GRCh38: 3:45920367-45920367
48 FYCO1 NM_024513.4(FYCO1):c.*1349T>C SNV Uncertain significance 900040 GRCh37: 3:45961908-45961908
GRCh38: 3:45920416-45920416
49 FYCO1 NM_024513.4(FYCO1):c.*1270T>C SNV Uncertain significance 900041 GRCh37: 3:45961987-45961987
GRCh38: 3:45920495-45920495
50 FYCO1 NM_024513.4(FYCO1):c.*1211C>A SNV Uncertain significance 900042 GRCh37: 3:45962046-45962046
GRCh38: 3:45920554-45920554

Expression for Early-Onset Zonular Cataract

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

Pathways for Early-Onset Zonular Cataract

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

# Super pathways Score Top Affiliating Genes
1 10.86 WFS1 CRYAB

GO Terms for Early-Onset Zonular Cataract

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

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.62 WFS1 CRYAB

Sources for Early-Onset Zonular 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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