MCID: ERL040
MIFTS: 16

Early-Onset Sutural Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Sutural Cataract

MalaCards integrated aliases for Early-Onset Sutural Cataract:

Name: Early-Onset Sutural Cataract 58
Early-Onset Cataract with Y-Shaped Suture Opacities 58

Characteristics:

Orphanet epidemiological data:

58
early-onset sutural cataract
Inheritance: Autosomal dominant; 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 71 C1854021
Orphanet 58 ORPHA98985

Summaries for Early-Onset Sutural Cataract

MalaCards based summary : Early-Onset Sutural Cataract, also known as early-onset cataract with y-shaped suture opacities, is related to cataract 25 and posterior polar cataract. An important gene associated with Early-Onset Sutural Cataract is BFSP2 (Beaded Filament Structural Protein 2). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Early-Onset Sutural Cataract

Graphical network of the top 20 diseases related to Early-Onset Sutural Cataract:



Diseases related to Early-Onset Sutural Cataract

Symptoms & Phenotypes for Early-Onset Sutural Cataract

MGI Mouse Phenotypes related to Early-Onset Sutural Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 BFSP2 CRYBA1 CRYBB2 CRYGS GJA8 MIP

Drugs & Therapeutics for Early-Onset Sutural Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Sutural Cataract

Genetic Tests for Early-Onset Sutural Cataract

Anatomical Context for Early-Onset Sutural Cataract

MalaCards organs/tissues related to Early-Onset Sutural Cataract:

40
Eye

Publications for Early-Onset Sutural Cataract

Variations for Early-Onset Sutural Cataract

Expression for Early-Onset Sutural Cataract

Search GEO for disease gene expression data for Early-Onset Sutural Cataract.

Pathways for Early-Onset Sutural Cataract

GO Terms for Early-Onset Sutural Cataract

Cellular components related to Early-Onset Sutural Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.62 MIP GJA8

Biological processes related to Early-Onset Sutural Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 MIP CRYBB2 BFSP2
2 visual perception GO:0007601 9.35 MIP CRYGS CRYBB2 CRYBA1 BFSP2
3 camera-type eye development GO:0043010 9.26 GJA8 CRYBB2
4 gap junction-mediated intercellular transport GO:1990349 9.16 MIP GJA8
5 lens development in camera-type eye GO:0002088 9.02 MIP GJA8 CRYGS CRYBB2 CRYBA1

Molecular functions related to Early-Onset Sutural Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.02 MIP CRYGS CRYBB2 CRYBA1 BFSP2
2 structural molecule activity GO:0005198 8.96 CRYBB2 BFSP2

Sources for Early-Onset Sutural Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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