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 58

Characteristics:

Orphanet epidemiological data:

58
early-onset lamellar cataract
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA441452

Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cataract 32, multiple types and night blindness, congenital stationary, type 2a. 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

Diseases related to Early-Onset Lamellar Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 10.3 CRYBA1 CRYAA
2 night blindness, congenital stationary, type 2a 10.2 CRYBA1 CRYAA
3 cataract 24 10.2 CRYGB CRYAA
4 leukocoria 10.2 CRYBA1 CRYAA
5 cataract 11, multiple types 10.2 CRYBA1 CRYAA
6 cataract 6, multiple types 10.2 CRYBA1 CRYAA
7 myopathy, myofibrillar, 2 10.2 CRYAB CRYAA
8 cataract 31, multiple types 10.2 CRYBA1 CRYAA
9 autoimmune optic neuritis 10.1 MIP CRYBA1
10 porencephaly 10.1 CRYBA4 CRYAA
11 axenfeld-rieger syndrome 10.1 CRYGS CRYAA
12 lens subluxation 10.1 CRYBA4 CRYAA
13 cataract 16, multiple types 10.0 CRYBA1 CRYAB CRYAA
14 alexander disease 10.0 CRYAB CRYAA
15 morgagni cataract 10.0 CRYGS CRYAA
16 disuse amblyopia 10.0 CRYGS CRYAA
17 cerulean cataract 9.9 MIP CRYGD
18 erythrokeratodermia variabilis et progressiva 1 9.9 CRYBA1 CRYAA
19 early-onset posterior polar cataract 9.9 MIP CRYBA1 CRYAB
20 galactosemia ii 9.8 CRYGS CRYAA BFSP2
21 intraocular pressure quantitative trait locus 9.8 MIP CRYAB CRYAA
22 senile cataract 9.8 CRYGS CRYAA
23 cataract 30, multiple types 9.8 CRYGD CRYGC BFSP2
24 nance-horan syndrome 9.8 CRYBA4 CRYBA1 CRYAA BFSP2
25 retinal perforation 9.8 CRYGS CRYBA4 CRYAA
26 mal de meleda 9.8 HSF4 CRYAA
27 aniridia 1 9.7 CRYBA4 CRYAA
28 diabetic cataract 9.7 CRYGS CRYGB CRYAA
29 axenfeld-rieger syndrome, type 3 9.6 CRYGS CRYBA1 CRYAA BFSP2
30 myopia 9.6 CRYGD CRYBA4 CRYAA BFSP2
31 amblyopia 9.6 CRYGS CRYBA4 CRYAA BFSP2
32 cataract microcornea syndrome 9.5 CRYGD CRYGC CRYBA4 CRYAA
33 presbyopia 9.5 MIP CRYGS CRYAA BFSP2
34 eye accommodation disease 9.5 MIP CRYGS CRYAA BFSP2
35 early-onset sutural cataract 9.5 MIP CRYGS CRYBA1 BFSP2
36 cataract 44 9.2 MIP HSF4 CRYGB CRYAA
37 mature cataract 9.0 MIP CRYGS CRYGD CRYGB CRYAA
38 early-onset nuclear cataract 8.9 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
39 posterior polar cataract 8.4 HSF4 CRYGS CRYGD CRYBA1 CRYAB CRYAA
40 lens disease 8.3 MIP CRYGS CRYGD CRYBA4 CRYBA1 CRYAB
41 cataract 7.1 MIP HSF4 CRYGS CRYGD CRYGC CRYGB

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:

45
# 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:

40
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 lens development in camera-type eye GO:0002088 9.56 MIP CRYGS CRYGD CRYGC CRYGB CRYBA4
3 camera-type eye development GO:0043010 9.43 HSF4 CRYBA4 CRYAB
4 eye development GO:0001654 9.4 HSF4 CRYGB
5 lens fiber cell development GO:0070307 9.32 CRYGB BFSP2
6 visual perception GO:0007601 9.32 MIP HSF4 CRYGS CRYGD CRYGC CRYGB
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
2 structural molecule activity GO:0005198 9.13 CRYAB CRYAA BFSP2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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