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MCID: ERL037
MIFTS: 16

Early-Onset Lamellar Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases
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Genes Tissues Related diseases
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Aliases & Classifications for Early-Onset Lamellar Cataract

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MalaCards integrated aliases for Early-Onset Lamellar Cataract:

Name: Early-Onset Lamellar Cataract 58

Characteristics:


Inheritance:

Autosomal dominant 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA441452
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Summaries for Early-Onset Lamellar Cataract

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MalaCards based summary: Early-Onset Lamellar Cataract is related to cataract 32, multiple types and neuronopathy, distal hereditary motor, type iic. 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.
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Related Diseases for Early-Onset Lamellar Cataract

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 10.2 CRYBA1 CRYAA
2 neuronopathy, distal hereditary motor, type iic 10.2 CRYAB CRYAA
3 ayme-gripp syndrome 10.1 CRYAA BFSP2
4 cataract 24 10.1 CRYGB CRYAA
5 myopathy, myofibrillar, 2 10.1 CRYAB CRYAA
6 cataract 11, multiple types 10.1 CRYBA1 CRYAA
7 night blindness, congenital stationary, type 2a 10.1 CRYGB CRYAA
8 congenital aphakia 10.1 CRYGB CRYAA
9 cataract 48 10.1 CRYGB CRYAA
10 retinitis pigmentosa 29 10.1 CRYBA4 CRYAA
11 cataract 18 10.1 CRYGB CRYAA
12 porencephaly 10.1 CRYBA4 CRYAA
13 microphthalmia, syndromic 2 10.1 CRYBA4 CRYAA
14 syndromic microphthalmia 10.1 CRYBA4 CRYAA
15 axenfeld-rieger syndrome 10.1 CRYGS CRYAA
16 leukocoria 10.1 CRYGD CRYAA
17 iris disease 10.0 CRYBA4 CRYAA
18 cataract 31, multiple types 10.0 CRYBA1 CRYAA BFSP2
19 morgagni cataract 10.0 CRYGS CRYAA
20 cataract 16, multiple types 10.0 CRYBA1 CRYAB CRYAA
21 esotropia 10.0 CRYBA1 CRYAA
22 distal hereditary motor neuronopathy type 2 10.0 CRYAB CRYAA
23 retinal perforation 10.0 CRYGS CRYAA
24 cataract 7 10.0 MIP CRYGD
25 abruzzo-erickson syndrome 10.0 CRYGB CRYBA4 CRYAA
26 alexander disease 9.9 CRYAB CRYAA
27 coloboma of optic nerve 9.9 CRYGS CRYAA
28 early-onset posterior polar cataract 9.9 MIP CRYBA1 CRYAB
29 intraocular pressure quantitative trait locus 9.9 MIP CRYAB CRYAA
30 cataract 30, multiple types 9.9 CRYGD CRYGC BFSP2
31 persistent hyperplastic primary vitreous 9.9 CRYGS CRYBA1 CRYAA
32 immature cataract 9.8 CRYGS CRYGB CRYAA
33 anterior segment dysgenesis 9.8 CRYGD CRYBA4 CRYAA BFSP2
34 axenfeld-rieger syndrome, type 3 9.7 CRYGS CRYBA1 CRYAA BFSP2
35 nuclear senile cataract 9.7 CRYGS CRYGD CRYGB
36 galactosemia ii 9.7 CRYGS CRYBA4 CRYAA BFSP2
37 cataract microcornea syndrome 9.7 CRYGD CRYGC CRYBA4 CRYAA
38 fundus dystrophy 9.7 CRYBA4 CRYBA1 CRYAB CRYAA
39 myopia 9.7 CRYBA4 CRYAA BFSP2
40 early-onset sutural cataract 9.6 MIP CRYGS CRYBA1 BFSP2
41 deprivation amblyopia 9.6 CRYGS CRYGD CRYGB CRYAA
42 diabetic cataract 9.6 MIP CRYGS CRYGB CRYAA
43 cataract 44 9.5 MIP HSF4 CRYGB CRYAA
44 eye accommodation disease 9.5 MIP CRYGS CRYGB CRYAA BFSP2
45 mature cataract 9.4 MIP CRYGS CRYGD CRYAA BFSP2
46 early-onset nuclear cataract 9.3 MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
47 aniridia 1 9.3 CRYGS CRYGD CRYBA4 CRYBA1 CRYAA BFSP2
48 senile cataract 9.0 HSF4 CRYGS CRYGD CRYGB CRYAA BFSP2
49 presbyopia 9.0 MIP CRYGS CRYGD CRYGB CRYAB CRYAA
50 posterior polar cataract 9.0 HSF4 CRYGS CRYBA4 CRYBA1 CRYAB CRYAA

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



Diseases related to Early-Onset Lamellar Cataract
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Symptoms & Phenotypes for Early-Onset Lamellar Cataract

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MGI Mouse Phenotypes related to Early-Onset Lamellar Cataract:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 BFSP2 CRYAA CRYAB CRYBA1 CRYGB CRYGC
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Drugs & Therapeutics for Early-Onset Lamellar Cataract

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

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Genetic Tests for Early-Onset Lamellar Cataract

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Anatomical Context for Early-Onset Lamellar Cataract

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Organs/tissues related to Early-Onset Lamellar Cataract:

MalaCards : Eye
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Publications for Early-Onset Lamellar Cataract

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Variations for Early-Onset Lamellar Cataract

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Expression for Early-Onset Lamellar Cataract

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

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GO Terms for Early-Onset Lamellar Cataract

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.96 BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
2 response to stimulus GO:0050896 9.88 MIP CRYGD CRYAA BFSP2
3 protein refolding GO:0042026 9.73 CRYAB CRYAA
4 lens fiber cell differentiation GO:0070306 9.67 HSF4 CRYGD
5 lens development in camera-type eye GO:0002088 9.58 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB CRYGC
6 camera-type eye development GO:0043010 9.56 HSF4 CRYBA4 CRYAB
7 lens fiber cell development GO:0070307 9.5 CRYGB BFSP2
8 negative regulation of intracellular transport GO:0032387 9.46 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 9.62 MIP CRYGS CRYGD CRYGC CRYGB CRYBA4
2 structural molecule activity GO:0005198 9.35 CRYAB CRYAA BFSP2
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Sources for Early-Onset Lamellar Cataract

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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