MCID: ERL043
MIFTS: 20

Early-Onset Nuclear Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Early-Onset Nuclear Cataract

MalaCards integrated aliases for Early-Onset Nuclear Cataract:

Name: Early-Onset Nuclear Cataract 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 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 neuronopathy, distal hereditary motor, type iic. An important gene associated with Early-Onset Nuclear Cataract is BFSP1 (Beaded Filament Structural Protein 1), and among its related pathways/superpathways is 1q21.1 copy number variation syndrome. Affiliated tissues include eye and breast, and related phenotype is vision/eye.

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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 10.3 CRYBA1 CRYAA
2 neuronopathy, distal hereditary motor, type iic 10.3 CRYAB CRYAA
3 cataract 31, multiple types 10.3 CRYBA1 CRYAA
4 cataract 48 10.3 CRYBA2 CRYAA
5 immature cataract 10.3 CRYBB2 CRYAA
6 triosephosphate isomerase deficiency 10.2 CRYBB1 CRYAA
7 cataract 11, multiple types 10.2 CRYBA1 CRYAA
8 leukocoria 10.2 CRYGD CRYAA
9 myopathy, myofibrillar, 2 10.2 CRYAB CRYAA
10 cataract 16, multiple types 10.2 CRYBA1 CRYAB CRYAA
11 cataract 18 10.2 FYCO1 CRYAA
12 axenfeld-rieger syndrome, type 3 10.2 CRYBA1 CRYAA
13 galactosemia ii 10.2 CRYBB3 CRYAA BFSP1
14 persistent hyperplastic primary vitreous 10.2 CRYBB1 CRYBA1 CRYAA
15 hallermann-streiff syndrome 10.2 GJA3 CRYAA
16 cataract 24 10.2 CRYBB3 CRYBA2 CRYAA
17 abruzzo-erickson syndrome 10.1 CRYBB3 CRYBB1 CRYAA
18 cataract 28 10.1 NHS CRYAA
19 ophthalmia neonatorum 10.1 NHS CRYAA
20 congenital aphakia 10.0 GJA8 CRYBB2 CRYAA
21 cataract 1, multiple types 10.0 GJA8 GJA3
22 diabetic cataract 10.0 MIP CRYBB1 CRYAA
23 cataract 14, multiple types 10.0 GJA8 GJA3
24 coloboma of optic nerve 10.0 GJA8 CRYAA
25 wolfram syndrome 1 10.0 WFS1 CRYAA
26 intraocular pressure quantitative trait locus 10.0 MIP CRYAB CRYAA
27 erythrokeratodermia variabilis et progressiva 1 9.9 GJA8 GJA3 CRYBA1
28 oculodentodigital dysplasia 9.9 GJA8 GJA3
29 iris disease 9.9 CRYBB1 CRYAA
30 sclerocornea 9.9 GJA8 CRYAA
31 cataract 9, multiple types 9.9 GJA8 CRYBB2 CRYBB1 CRYAA
32 coloboma of macula 9.9 GJA8 CRYBB2 CRYBB1 CRYAA
33 myofibrillar myopathy 9.8 UNC45B CRYAB CRYAA
34 fundus dystrophy 9.8 CRYBB1 CRYBA2 CRYBA1 CRYAB CRYAA
35 deprivation amblyopia 9.8 FYCO1 CRYGD CRYBB3 CRYAA BFSP1
36 early-onset posterior subcapsular cataract 9.8 UNC45B EPHA2 CRYBB2
37 cataract 7 9.8 MIP EPHA2 CRYGD CRYBB2
38 early-onset sutural cataract 9.8 MIP GJA8 CRYBB2 CRYBA1
39 early-onset posterior polar cataract 9.7 MIP GJA3 EPHA2 CRYBA1 CRYAB
40 early-onset lamellar cataract 9.6 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
41 cataract microcornea syndrome 9.6 GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
42 eye accommodation disease 9.6 MIP GJA8 GJA3 CRYAA BFSP1
43 mature cataract 9.5 MIP GJA8 CRYGD CRYBB2 CRYAA BFSP1
44 cataract 30, multiple types 9.5 GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1
45 eye disease 9.5 GJA8 GJA3 FYCO1 CRYBB2 CRYBB1 CRYAA
46 posterior polar cataract 9.3 GJA8 GJA3 EPHA2 CRYBB2 CRYBB1 CRYBA1
47 senile cataract 9.3 GJA8 GJA3 CRYGD CRYBB3 CRYBB2 CRYBB1
48 anterior segment dysgenesis 9.3 GJA8 GJA3 CRYGD CRYBB3 CRYBB2 CRYBB1
49 presbyopia 9.2 MIP GJA8 GJA3 CRYGD CRYBB2 CRYAB
50 amblyopia 9.2 GJA8 GJA3 CRYGD CRYBB3 CRYBB2 CRYBB1

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
2 no effect GR00402-S-2 10.11 BFSP1 CRYAB CRYBA1 CRYBB2 CRYBB3 CRYGD

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.47 BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB2

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

Organs/tissues related to Early-Onset Nuclear Cataract:

MalaCards : Eye, Breast

Publications for Early-Onset Nuclear Cataract

Articles related to Early-Onset Nuclear Cataract:

# Title Authors PMID Year
1
Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. 62
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 10.09 GJA8 GJA3

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 anchoring junction GO:0070161 9.35 NHS MIP GJA8 GJA3 EPHA2
2 gap junction GO:0005921 8.92 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 10 CRYAA CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3
2 lens development in camera-type eye GO:0002088 9.74 UNC45B NHS MIP GJA8 CRYGD CRYGC
3 gap junction-mediated intercellular transport GO:1990349 9.63 MIP GJA8 GJA3
4 negative regulation of intracellular transport GO:0032387 9.56 CRYAB CRYAA
5 camera-type eye development GO:0043010 9.5 GJA8 CRYBB2 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 9.66 MIP CRYGD CRYGC CRYBB3 CRYBB2 CRYBB1

Sources for Early-Onset Nuclear Cataract

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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