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 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 scleral staphyloma. 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 10.2 CRYBA1 CRYAA
2 scleral staphyloma 10.2 CRYBA1 CRYAA
3 leukocoria 10.2 CRYBA1 CRYAA
4 cataract 24 10.2 CRYGB CRYAA
5 corneal dystrophy, avellino type 10.2 CRYAA BFSP2
6 myopathy, myofibrillar, 2 10.2 CRYAB CRYAA
7 cataract 11, multiple types 10.2 CRYBA1 CRYAA
8 cataract 6, multiple types 10.2 CRYBA1 CRYAA
9 congenital aphakia 10.2 CRYGB CRYAA
10 cataract 31, multiple types 10.1 CRYBA1 CRYAA
11 cataract 48 10.1 CRYGB CRYAA
12 microphthalmia, syndromic 2 10.1 CRYBA4 CRYAA
13 senile cataract 10.1 CRYGS CRYAA
14 autoimmune optic neuritis 10.1 MIP CRYBA1
15 lens subluxation 10.1 CRYBA4 CRYAA
16 syndromic microphthalmia 10.1 CRYBA4 CRYAA
17 disuse amblyopia 10.0 CRYGS CRYAA
18 alexander disease 10.0 CRYAB CRYAA
19 anterior segment dysgenesis 10.0 CRYBA4 CRYAA BFSP2
20 night blindness, congenital stationary, type 2a 10.0 CRYGB CRYBA1 CRYAA
21 cerulean cataract 10.0 MIP CRYGD
22 abruzzo-erickson syndrome 10.0 CRYGB CRYBA4 CRYAA
23 porencephaly 10.0 CRYGB CRYBA4 CRYAA
24 erythrokeratodermia variabilis et progressiva 1 10.0 CRYBA1 CRYAA
25 diabetic cataract 10.0 CRYGS CRYAA
26 early-onset posterior polar cataract 9.9 MIP CRYBA1 CRYAB
27 intraocular pressure quantitative trait locus 9.9 MIP CRYAB CRYAA
28 galactosemia ii 9.9 CRYGS CRYAA BFSP2
29 immature cataract 9.9 MIP CRYGB CRYAA
30 cataract 30, multiple types 9.9 CRYGD CRYGC BFSP2
31 persistent hyperplastic primary vitreous 9.9 CRYGS CRYBA1
32 mal de meleda 9.9 HSF4 CRYAA
33 retinal perforation 9.9 CRYGS CRYBA4 CRYAA
34 morgagni cataract 9.9 CRYGS CRYGB CRYAA
35 nance-horan syndrome 9.8 CRYGD CRYBA4 CRYAA BFSP2
36 cataract microcornea syndrome 9.7 CRYGD CRYGC CRYBA4 CRYAA
37 myopia 9.7 CRYBA4 CRYAA BFSP2
38 amblyopia 9.6 CRYGS CRYGD CRYAA BFSP2
39 early-onset sutural cataract 9.6 MIP CRYGS CRYBA1 BFSP2
40 cataract 16, multiple types 9.6 HSF4 CRYBA1 CRYAB CRYAA
41 axenfeld-rieger syndrome, type 3 9.6 CRYGS CRYBA1 CRYAB CRYAA BFSP2
42 mature cataract 9.5 MIP CRYGS CRYGD CRYAA
43 nuclear senile cataract 9.5 CRYGS CRYGD CRYGC CRYGB
44 cataract 44 9.5 MIP HSF4 CRYGB CRYAA
45 early-onset nuclear cataract 9.3 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
46 posterior polar cataract 9.2 HSF4 CRYGD CRYBA1 CRYAB CRYAA BFSP2
47 presbyopia 9.2 MIP CRYGS CRYGD CRYGB CRYAA BFSP2
48 eye accommodation disease 9.2 MIP CRYGS CRYGD CRYGB CRYAA BFSP2
49 aniridia 1 8.8 HSF4 CRYGS CRYGD CRYBA4 CRYBA1 CRYAA
50 early-onset non-syndromic cataract 8.5 MIP HSF4 CRYGS CRYGC CRYGB CRYBA4

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:

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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