MCID: ERL040
MIFTS: 17

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 60
Early-Onset Cataract with Y-Shaped Suture Opacities 60

Characteristics:

Orphanet epidemiological data:

60
early-onset sutural cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C1854021
Orphanet 60 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 cataract 9, multiple types. An important gene associated with Early-Onset Sutural Cataract is CRYGS (Crystallin Gamma S). 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:

47
# 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:

42
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 GJA8 MIP

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 9.43 BFSP2 CRYBB2 MIP
2 visual perception GO:0007601 9.26 BFSP2 CRYBA1 CRYBB2 MIP
3 camera-type eye development GO:0043010 9.16 CRYBB2 GJA8
4 lens development in camera-type eye GO:0002088 8.8 CRYBA1 CRYGS GJA8

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 BFSP2 CRYBA1 CRYBB2 CRYGS MIP
2 channel activity GO:0015267 8.65 MIP

Sources for Early-Onset Sutural 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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