MCID: ERL043
MIFTS: 21

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:

Orphanet 59 ORPHA98991
UMLS via Orphanet 74 C0392557 C1112705
ICD10 via Orphanet 34 Q12.0

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to cortical senile cataract and cataract 1, multiple types. An important gene associated with Early-Onset Nuclear Cataract is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, and related phenotype is 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

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

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 9.54 CRYAA CRYAB GJA8
3 protein stabilization GO:0050821 9.5 CRYAA CRYAB WFS1
4 camera-type eye development GO:0043010 9.43 CRYAB CRYBB2 GJA8
5 lens development in camera-type eye GO:0002088 9.23 CRYAB CRYBA1 CRYBA2 CRYGD GJA8 MIP
6 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 unfolded protein binding GO:0051082 9.33 CRYAA CRYAB FYCO1
3 channel activity GO:0015267 9.26 GJA8 MIP
4 gap junction channel activity GO:0005243 8.96 GJA3 GJA8

Sources for Early-Onset Nuclear Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....