MCID: ERL037
MIFTS: 16

Early-Onset Lamellar Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Lamellar Cataract

MalaCards integrated aliases for Early-Onset Lamellar Cataract:

Name: Early-Onset Lamellar Cataract 60

Characteristics:

Orphanet epidemiological data:

60
early-onset lamellar cataract
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 60 ORPHA441452

Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cerulean cataract and cataract 30, multiple types. An important gene associated with Early-Onset Lamellar Cataract is CRYGB (Crystallin Gamma B). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Early-Onset Lamellar Cataract

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



Diseases related to Early-Onset Lamellar Cataract

Symptoms & Phenotypes for Early-Onset Lamellar Cataract

MGI Mouse Phenotypes related to Early-Onset Lamellar Cataract:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 BFSP2 CRYAB CRYBA1 CRYGB CRYGC CRYGD

Drugs & Therapeutics for Early-Onset Lamellar Cataract

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

Genetic Tests for Early-Onset Lamellar Cataract

Anatomical Context for Early-Onset Lamellar Cataract

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

42
Eye

Publications for Early-Onset Lamellar Cataract

Variations for Early-Onset Lamellar Cataract

Expression for Early-Onset Lamellar Cataract

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

Pathways for Early-Onset Lamellar Cataract

GO Terms for Early-Onset Lamellar Cataract

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 BFSP2 CRYAA CRYGD MIP
2 protein homooligomerization GO:0051260 9.58 CRYAA CRYAB HSF4
3 camera-type eye development GO:0043010 9.43 CRYAB CRYBA4 HSF4
4 lens development in camera-type eye GO:0002088 9.35 CRYAB CRYBA1 CRYGB CRYGD CRYGS
5 lens fiber cell development GO:0070307 9.32 BFSP2 CRYGB
6 visual perception GO:0007601 9.28 BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
7 negative regulation of intracellular transport GO:0032387 9.16 CRYAA CRYAB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.32 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB

Sources for Early-Onset Lamellar 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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