MCID: LNS003
MIFTS: 34

Lens Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lens Disease

Summaries for Lens Disease

Disease Ontology : 12 An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.

MalaCards based summary : Lens Disease, also known as lens diseases, is related to cataract and rare lens disease, and has symptoms including eye manifestations An important gene associated with Lens Disease is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways is Folate Metabolism. Affiliated tissues include eye and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 The lens is a transparent biconvex structure in the eye that, along with the cornea, helps to refract... more...

Related Diseases for Lens Disease

Diseases in the Lens Disease family:

Rare Lens Disease

Diseases related to Lens Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 cataract 32.5 VEGFA TRNT1 PAX6 OCRL MIR204 INS
2 rare lens disease 12.2
3 isolated ectopia lentis 10.9
4 bile duct rhabdomyosarcoma 10.8 GGTLC3 GGT2 GGT1
5 splenic tuberculosis 10.8 GGTLC3 GGT2 GGT1
6 perforation of bile duct 10.8 GGTLC3 GGT2 GGT1
7 gallbladder papillary carcinoma 10.8 GGTLC3 GGT2 GGT1
8 immature teratoma of ovary 10.8 GGTLC3 GGT2 GGT1
9 optic nerve astrocytoma 10.8 GGTLC3 GGT2 GGT1
10 myasthenic syndrome, congenital, 3b, fast-channel 10.8 GGTLC3 GGT2 GGT1
11 suppurative cholangitis 10.8 GGTLC3 GGT2 GGT1
12 morgagni cataract 10.8 LAMA3 CRYGS CRYAA
13 viral laryngitis 10.8 GGTLC3 GGT2 GGT1
14 intravascular papillary endothelial hyperplasia 10.8 VEGFA SERPINA3
15 acute cholangitis 10.8 GGTLC3 GGT2 GGT1
16 bile duct cysts 10.8 GGTLC3 GGT2 GGT1
17 glutathionuria 10.8 GGTLC3 GGT2 GGT1
18 bile acid synthesis defect, congenital, 1 10.8 GGTLC3 GGT2 GGT1
19 phacogenic glaucoma 10.8 SERPINA3 LAMA3 CRYAA
20 common bile duct disease 10.8 GGTLC3 GGT2 GGT1
21 retinal perforation 10.7 VEGFA CRYGS CRYAA
22 dientamoebiasis 10.7 GGTLC3 GGT2 GGT1 GGCT
23 familial adenomatous polyposis 2 10.7 GGTLC3 GGT2 GGT1
24 amelogenesis imperfecta, type if 10.7 GGTLC3 GGT2 GGT1 GGCT
25 giant axonal neuropathy 1, autosomal recessive 10.7 GGTLC3 GGT2 GGT1
26 presbyopia 10.7 LAMA3 CRYGS CRYAA
27 eye accommodation disease 10.7 LAMA3 CRYGS CRYAA
28 esophageal varix 10.7 GGTLC3 GGT2 GGT1
29 blood group, globoside system 10.7 VEGFA LAMA3 CRYAA
30 pelizaeus-merzbacher disease 10.7 SERPINA3 H2AC18 GGCT ERCC6
31 iris disease 10.7 SERPINA3 PAX6 CRYAA
32 axenfeld-rieger syndrome, type 3 10.7 PAX6 MIR204 CRYGS CRYAA
33 axenfeld-rieger syndrome 10.7 PAX6 MIR204 CRYGS CRYAA
34 retinal microaneurysm 10.7 VEGFA INS AKR1B1
35 cerebral degeneration 10.7 SERPINA3 H2AC18 ERCC6 CRYAA
36 vitreous disease 10.7 VEGFA PAX6 CRYAA
37 ocular motility disease 10.7 SERPINA3 PAX6 CRYAA
38 choledocholithiasis 10.7 GGTLC3 GGT2 GGT1
39 severe nonproliferative diabetic retinopathy 10.7 VEGFA INS AKR1B1
40 mature cataract 10.7 LAMA3 CRYGS CRYAA AKR1B1
41 intestinal benign neoplasm 10.7 VEGFA SERPINA3 H2AC18 ERCC6
42 lens subluxation 10.7 PAX6 LAMA3 CRYAA
43 hepatic vascular disease 10.7 VEGFA GGTLC3 GGT2 GGT1
44 spinal and bulbar muscular atrophy, x-linked 1 10.7 ERCC6 DMPK CRYAA
45 noonan syndrome 8 10.7 SUGCT GGTLC3 GGT2 GGT1
46 algoneurodystrophy 10.7 INS GGTLC3 GGT2 GGT1
47 senile cataract 10.7 LAMA3 CRYGS CRYAA
48 degeneration of macula and posterior pole 10.7 VEGFA SERPINA3 H2AC18 ERCC6 CRYAA
49 x-linked recessive disease 10.7 SERPINA3 OCRL H2AC18 ERCC6 CRYAA
50 background diabetic retinopathy 10.7 VEGFA INS AKR1B1

Graphical network of the top 20 diseases related to Lens Disease:



Diseases related to Lens Disease

Symptoms & Phenotypes for Lens Disease

UMLS symptoms related to Lens Disease:


eye manifestations

GenomeRNAi Phenotypes related to Lens Disease according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.7 ERCC6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.7 GGT2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.7 ERCC6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.7 ERCC6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.7 GGT1 GGT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.7 ERCC6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.7 GGT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.7 CRYAA GGT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.7 CRYAA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 9.7 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.7 ERCC6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.7 ERCC6
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.7 GGT2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.7 CRYAA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 CRYAA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.7 ERCC6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 9.7 ERCC6
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 CRYAA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.7 GGT1 GGT2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.7 CRYAA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.7 ERCC6

Drugs & Therapeutics for Lens Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
2 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
3 Study of the Incidence of Retinal Detachment After Lens Surgery in the Nearsighted Completed NCT04072939
4 Refinement of the Magnetic Resonance Imaging Technique for the Study of the Normal Eye, Particularly the Lens and Cataract Completed NCT00005911
5 The Possible Association Between Pseudoexfoliation Syndrome and Diabetes Mellitus in an Egyptian Population Not yet recruiting NCT03741153
6 Development of a New Patient Reported Outcome (PRO) Measure for Refractive Surgery Patients as Part of the National Dataset in Refractive Surgery Not yet recruiting NCT03655743

Search NIH Clinical Center for Lens Disease

Cochrane evidence based reviews: lens diseases

Genetic Tests for Lens Disease

Anatomical Context for Lens Disease

MalaCards organs/tissues related to Lens Disease:

40
Eye, Retina

Publications for Lens Disease

Articles related to Lens Disease:

(show all 37)
# Title Authors PMID Year
1
Compliance behaviour change in contact lens wearers: a randomised controlled trial. 61
32546749 2020
2
Modeling ocular lens disease in Xenopus. 61
31872467 2020
3
Quantitative assessment of early Type 2 diabetic cataracts using T1,T2-mapping techniques. 61
31398062 2019
4
The effects of c-Src kinase on EMT signaling pathway in human lens epithelial cells associated with lens diseases. 61
31703690 2019
5
Treatment with adipose tissue-derived mesenchymal stem cells exerts anti-diabetic effects, improves long-term complications, and attenuates inflammation in type 2 diabetic rats. 61
31747961 2019
6
Endogenous bioelectric currents promote differentiation of the mammalian lens. 61
28661005 2018
7
Whole exome sequencing: Uncovering causal genetic variants for ocular diseases. 61
28844620 2017
8
The Role of DNA Methylation in Lens Development and Cataract Formation. 61
27858287 2017
9
Prevalence of Laboratory Critical Results in Eye Patients from an Eye Hospital in Southern China. 61
28573144 2017
10
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts. 61
26996484 2016
11
Ocular neuropathic pain. 61
25943558 2016
12
[Ophthalmic pathology in tubalars of the Altai Republic]. 61
25098120 2014
13
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts. 61
24535056 2014
14
[Epidemiological study of the metabolic diseases with homocystinuria in Spain]. 61
22047794 2012
15
iSyTE: integrated Systems Tool for Eye gene discovery. 61
22323457 2012
16
Efficient generation of lens progenitor cells from cataract patient-specific induced pluripotent stem cells. 61
22403680 2012
17
Spatial expression of aquaporin 5 in mammalian cornea and lens, and regulation of its localization by phosphokinase A. 61
22550388 2012
18
The lens: a classical model of embryonic induction providing new insights into cell determination in early development. 61
21402580 2011
19
[Clinical study of the auxiliary management with iris retractor for subluxated lens combined with cataract]. 61
21418927 2011
20
Analysis of protein-protein interactions and proteomic profiles of normal human lenses. 61
20597647 2010
21
The lens capsule. 61
18773892 2009
22
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. 61
18407550 2008
23
[Coverslip assisted primary tissue culture for human lens epithelial cells in vitro]. 61
18709952 2008
24
[Rare complication in microspherophakia surgery: early capsular contraction]. 61
18268433 2007
25
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 61
14512969 2003
26
[The application of digital photography with retroillumination for lens in cataract study]. 61
12892603 2003
27
Knowledge about glaucoma in the unselected population: a German survey. 61
12362089 2002
28
Cataracts in New World camelids (llamas, alpacas, vicuñas, and guanacos). 61
12170638 2002
29
The role of HBV-infection in development of cataracts in children and adults. 61
9361491 1997
30
A locus for autosomal dominant posterior polar cataract on chromosome 1p. 61
9002669 1997
31
Diagnosis and treatment of lens diseases. 61
1458330 1992
32
A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. 61
1390943 1992
33
Documentation of lens diseases. 61
511290 1979
34
[Keratoplasty and combined lens extraction in thirty two non traumatic cases (author's transl)]. 61
152775 1978
35
Ocular chrysiasis correlated with gold concentrations in the crystalline lens during chrysotherapy. 61
737001 1978
36
[Disability and rehabilitation in lens diseases]. 61
138113 1976
37
Concomitant progressive deafness, chronic nephritis, and ocular lens disease. 61
13950238 1963

Variations for Lens Disease

Expression for Lens Disease

Search GEO for disease gene expression data for Lens Disease.

Pathways for Lens Disease

Pathways related to Lens Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 SERPINA3 INS GGT2 GGT1

GO Terms for Lens Disease

Cellular components related to Lens Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 SERPINA3 LAMA3 H2AC18 GGTLC3 GGT2 GGT1

Biological processes related to Lens Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutathione biosynthetic process GO:0006750 9.32 GGT1 GGCT
2 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
3 peptide modification GO:0031179 9.16 GGT2 GGT1
4 glutathione catabolic process GO:0006751 9.13 GGTLC3 GGT2 GGT1
5 leukotriene D4 biosynthetic process GO:1901750 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Lens Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Lens Disease

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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