MCID: ERL043
MIFTS: 22

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 59

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

ICD10 via Orphanet 34 Q12.0
UMLS via Orphanet 73 C0392557 C1112705
Orphanet 59 ORPHA98991

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to senile cataract and cataract 10, multiple types. An important gene associated with Early-Onset Nuclear Cataract is BFSP1 (Beaded Filament Structural Protein 1), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye and breast, and related phenotypes are no effect and vision/eye

Related Diseases for Early-Onset Nuclear Cataract

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 no effect GR00402-S-1 9.88 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 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:

41
Eye, Breast

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. 71
23531866 2013
2
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 71
21636066 2011
3
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 71
11519376 2001
4
Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. 38
28658846 2017

Variations for Early-Onset Nuclear Cataract

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 11.02 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 cell junction GO:0030054 9.55 NHS MIP GJA8 GJA3 EPHA2
2 connexin complex GO:0005922 8.96 GJA8 GJA3
3 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 protein homooligomerization GO:0051260 9.58 GJA8 CRYAB CRYAA
2 lens development in camera-type eye GO:0002088 9.56 UNC45B NHS MIP GJA8 CRYGD CRYBA2
3 protein stabilization GO:0050821 9.54 WFS1 CRYAB CRYAA
4 camera-type eye development GO:0043010 9.43 GJA8 CRYBB2 CRYAB
5 negative regulation of cytokine production GO:0001818 9.32 EPHA2 CRYBA1
6 visual perception GO:0007601 9.32 WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
7 negative regulation of intracellular transport GO:0032387 9.16 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 channel activity GO:0015267 8.85 MIP
3 gap junction channel activity GO:0005243 8.65 GJA8

Sources for Early-Onset Nuclear 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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