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 60

Characteristics:

Orphanet epidemiological data:

60
early-onset nuclear cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C0392557 C1112705
Orphanet 60 ORPHA98991

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to nuclear senile cataract and cataract 10, multiple types. An important gene associated with Early-Onset Nuclear Cataract is CRYBA2 (Crystallin Beta A2), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, 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:

27
# 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:

47
# 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:

42
Eye

Publications for Early-Onset Nuclear Cataract

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 CRYAA CRYAB WFS1

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 EPHA2 GJA3 GJA8 MIP NHS
2 connexin complex GO:0005922 8.96 GJA3 GJA8
3 gap junction GO:0005921 8.8 GJA3 GJA8 MIP

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 CRYAA CRYBA1 CRYBB1 CRYBB2 CRYBB3 CRYGC
2 protein homooligomerization GO:0051260 9.58 CRYAA CRYAB GJA8
3 protein stabilization GO:0050821 9.54 CRYAA CRYAB WFS1
4 camera-type eye development GO:0043010 9.43 CRYAB CRYBB2 GJA8
5 negative regulation of cytokine production GO:0001818 9.32 CRYBA1 EPHA2
6 lens development in camera-type eye GO:0002088 9.23 CRYAB CRYBA1 CRYBA2 CRYGD GJA8 MIP
7 negative regulation of intracellular transport GO:0032387 9.16 CRYAA CRYAB

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 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
2 channel activity GO:0015267 9.16 GJA8 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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