MCID: ERL043
MIFTS: 23

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 72 C0392557 C1112705
Orphanet 58 ORPHA98991

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to cataract 32, multiple types and leukocoria. 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 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 all 39)
# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 10.4 CRYBA1 CRYAA
2 leukocoria 10.3 CRYBA1 CRYAA
3 cataract 11, multiple types 10.3 CRYBA1 CRYAA
4 cataract 16, multiple types 10.3 CRYBA1 CRYAB CRYAA
5 cataract 31, multiple types 10.2 CRYBA1 CRYAA BFSP1
6 lens subluxation 10.2 CRYBA2 CRYAA BFSP1
7 disuse amblyopia 10.2 FYCO1 CRYAA
8 cataract 24 10.2 CRYBB3 CRYBA2 CRYAA
9 hallermann-streiff syndrome 10.2 GJA3 CRYAA
10 triosephosphate isomerase deficiency 10.2 CRYBB3 CRYBB1 CRYAA
11 cataract 6, multiple types 10.1 EPHA2 CRYBA1 CRYAA
12 senile cataract 10.1 EPHA2 CRYAA BFSP1
13 sclerocornea 10.0 GJA8 CRYAA
14 aniridia 1 10.0 CRYBB2 CRYBB1 CRYBA1 CRYAA
15 presbyopia 10.0 MIP CRYAA BFSP1
16 eye accommodation disease 10.0 MIP CRYAA BFSP1
17 mature cataract 10.0 MIP CRYBB2 CRYAA
18 congenital nystagmus 10.0 GJA8 CRYAA
19 hereditary lymphedema ic 9.9 GJA8 GJA3
20 cerulean cataract 9.9 MIP CRYGD CRYBB2
21 cataract 1, multiple types 9.9 GJA8 GJA3 CRYAA
22 cataract 14, multiple types 9.9 GJA8 GJA3
23 intraocular pressure quantitative trait locus 9.9 MIP CRYAB CRYAA
24 cataract 9, multiple types 9.9 GJA8 CRYBB2 CRYBB1 CRYAA
25 oculodentodigital dysplasia 9.8 GJA8 GJA3
26 erythrokeratodermia variabilis et progressiva 1 9.7 GJA8 GJA3 CRYBB3 CRYAA
27 wolfram syndrome 1 9.7 WFS1 CRYAA
28 early-onset posterior subcapsular cataract 9.7 UNC45B EPHA2 CRYBB2
29 early-onset sutural cataract 9.7 MIP GJA8 CRYBB2 CRYBA1
30 amblyopia 9.6 GJA3 CRYBB3 CRYBB2 CRYBB1 CRYAA BFSP1
31 early-onset posterior polar cataract 9.5 MIP GJA3 EPHA2 CRYBA1 CRYAB
32 early-onset lamellar cataract 9.4 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
33 cataract microcornea syndrome 9.4 GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
34 cataract 30, multiple types 9.3 GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1
35 nance-horan syndrome 9.2 NHS CRYBB3 CRYBB2 CRYBB1 CRYBA1 CRYAA
36 posterior polar cataract 9.1 GJA3 EPHA2 CRYGD CRYBB2 CRYBA1 CRYAB
37 lens disease 8.7 MIP GJA8 GJA3 CRYBB2 CRYBB1 CRYBA1
38 cataract 44 8.7 NHS MIP GJA8 FYCO1 EPHA2 CRYBB2
39 cataract 5.8 WFS1 UNC45B NHS MIP GJA8 GJA3

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 10.02 EPHA2
2 Decreased viability GR00221-A-3 10.02 EPHA2
3 Decreased viability GR00221-A-4 10.02 EPHA2
4 Decreased viability GR00342-S-2 10.02 EPHA2
5 Decreased viability GR00381-A-1 10.02 GJA3
6 Decreased viability GR00402-S-2 10.02 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
7 no effect GR00402-S-1 9.58 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

45
# 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:

40
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. 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

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 visual perception GO:0007601 9.7 WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
2 protein stabilization GO:0050821 9.58 WFS1 CRYAB CRYAA
3 camera-type eye development GO:0043010 9.5 GJA8 CRYBB2 CRYAB
4 lens development in camera-type eye GO:0002088 9.4 UNC45B NHS MIP GJA8 CRYGD CRYGC
5 negative regulation of cytokine production GO:0001818 9.37 EPHA2 CRYBA1
6 gap junction-mediated intercellular transport GO:1990349 9.33 MIP GJA8 GJA3
7 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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