MCID: ERL037
MIFTS: 15

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 59

Characteristics:

Orphanet epidemiological data:

59
early-onset lamellar cataract
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 59 ORPHA441452

Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cataract 10, multiple types and cataract 24. An important gene associated with Early-Onset Lamellar Cataract is BFSP2 (Beaded Filament Structural Protein 2). 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:

46
# 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:

41
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 MIP CRYGD CRYAA BFSP2
2 protein homooligomerization GO:0051260 9.58 HSF4 CRYAB CRYAA
3 camera-type eye development GO:0043010 9.43 HSF4 CRYBA4 CRYAB
4 lens development in camera-type eye GO:0002088 9.43 MIP CRYGS CRYGD CRYGB CRYBA1 CRYAB
5 lens fiber cell development GO:0070307 9.32 CRYGB BFSP2
6 visual perception GO:0007601 9.28 MIP HSF4 CRYGD CRYGC CRYGB CRYBA4
7 negative regulation of intracellular transport GO:0032387 9.16 CRYAB CRYAA

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 MIP CRYGS CRYGD CRYGC CRYGB CRYBA4

Sources for Early-Onset Lamellar Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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