MCID: CRN022
MIFTS: 37

Corneal Degeneration

Categories: Eye diseases

Aliases & Classifications for Corneal Degeneration

MalaCards integrated aliases for Corneal Degeneration:

Name: Corneal Degeneration 12 15 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:1237
ICD9CM 34 371.4 371.40
ICD10 32 H18.4 H18.40
UMLS 71 C0155118

Summaries for Corneal Degeneration

MalaCards based summary : Corneal Degeneration is related to stromal corneal dystrophy and corneal ectasia. An important gene associated with Corneal Degeneration is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related phenotypes are Decreased viability and no effect

Related Diseases for Corneal Degeneration

Diseases related to Corneal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 stromal corneal dystrophy 30.3 UBIAD1 TGFBI
2 corneal ectasia 29.8 VSX1 TGFBI KERA COL8A2
3 pseudopterygium 29.8 SLC4A11 KRT3 KRT12
4 keratitis, hereditary 29.7 KRT3 KRT12 KERA
5 corneal dystrophy, band-shaped 29.7 SLC4A7 SLC4A4 SLC4A11 MRAP COL8A2
6 irregular astigmatism 29.6 VSX1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
7 epithelial basement membrane dystrophy 29.4 TGFBI TBCD CHST6
8 lattice corneal dystrophy 29.2 TGFBI TBCD KRT12 CHST6
9 keratoconus 29.1 VSX1 TGFBI SLC4A11 KRT3 KRT12 KERA
10 corneal edema 28.6 VSX1 TGFBI SLC4A11 KRT3 KRT12 KERA
11 corneal dystrophy, gelatinous drop-like 28.1 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
12 corneal disease 27.8 VSX1 UBIAD1 TGFBI SLC4A11 KRT3 KRT12
13 corneal dystrophy 27.1 VSX1 UBIAD1 TGFBI TBCD SLC4A11 KRT3
14 corneal degeneration, ribbonlike, with deafness 12.2
15 corneal degeneration, band-shaped spheroid 12.2
16 keratosis follicularis spinulosa decalvans, x-linked 11.1
17 astigmatism 10.5
18 multicentric castleman disease 10.4
19 defective apolipoprotein b-100 10.4 PCSK9 APOB
20 hypobetalipoproteinemia, familial, 2 10.4 PCSK9 APOB
21 secondary corneal edema 10.3 SLC4A11 COL8A2
22 sea-blue histiocyte disease 10.3 PCSK9 LDLRAP1
23 intestinal impaction 10.3 SLC4A7 SLC4A4
24 anterior scleritis 10.3 MRAP KRT12
25 homozygous familial hypercholesterolemia 10.3 PCSK9 LDLRAP1 APOB
26 sitosterolemia 10.3 PCSK9 LDLRAP1 APOB
27 keratopathy 10.2
28 silent myocardial infarction 10.2 LPA APOB
29 hypobetalipoproteinemia, familial, 1 10.2 PCSK9 COG2 APOB
30 lipoprotein glomerulopathy 10.2 LPA APOB
31 pellucid marginal degeneration 10.2
32 hyperlipoproteinemia, type iv 10.2 LPA APOB
33 cataract 10.2
34 deep keratitis 10.1 MRAP KRT3
35 corneal dystrophy, posterior polymorphous, 2 10.1 VSX1 SLC4A11 COL8A2
36 limbal stem cell deficiency 10.1 KRT3 KRT12
37 xanthomatosis 10.1 LPA LDLRAP1 APOB
38 corneal dystrophy, endothelial, x-linked 10.1 VSX1 SLC4A11 COL8A2
39 keratoconjunctivitis 10.1
40 brittle cornea syndrome 2 10.1 VSX1 SLC4A11 COL8A2
41 generalized atherosclerosis 10.1 LPA COG2 APOB
42 aortic valve disease 2 10.0 PCSK9 LPA APOB
43 carotid artery disease 10.0 LPA COG2 APOB
44 iris disease 10.0 MRAP KRT3 KRT12
45 trachoma 10.0
46 keratoconjunctivitis sicca 10.0
47 tyrosinemia, type ii 10.0 MBTPS2 CHST6
48 corneal dystrophy, posterior polymorphous, 3 10.0 VSX1 UBIAD1 SLC4A11 COL8A2
49 hypolipoproteinemia 9.9 PCSK9 LPA COG2 APOB
50 intermediate coronary syndrome 9.9 PCSK9 LPA COG2 APOB

Comorbidity relations with Corneal Degeneration via Phenotypic Disease Network (PDN):


Bullous Keratopathy

Graphical network of the top 20 diseases related to Corneal Degeneration:



Diseases related to Corneal Degeneration

Symptoms & Phenotypes for Corneal Degeneration

GenomeRNAi Phenotypes related to Corneal Degeneration according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00402-S-2 9.96 APOB CHST6 COG2 COL8A2 KERA KRT12
2 no effect GR00402-S-1 9.62 APOB CHST6 COG2 COL8A2 KERA KRT12
3 Decreased free cholesterol GR00340-A-2 9.46 APOB LDLRAP1 LPA PCSK9

MGI Mouse Phenotypes related to Corneal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 APOB CHST6 COL8A2 KERA KRT12 SLC4A11

Drugs & Therapeutics for Corneal Degeneration

Drugs for Corneal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
3 Trace Elements Phase 3
4 Micronutrients Phase 3
5 Vitamins Phase 3
6 Anesthetics Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Vitamin B Complex Phase 3
9 Pharmaceutical Solutions Phase 3
10 Nutrients Phase 3
11 Anti-Bacterial Agents Phase 3
12 Vitamin B9 Phase 3
13 Dermatologic Agents Phase 3
14 Vitamin B2 Phase 3
15 Folate Phase 3
16 Photosensitizing Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
2 The Safety and Effectiveness of Collagen Cross Linking With Riboflavin and Ultraviolet-A Light in Progressive Mild and Moderate Grades of Keratoconus. Unknown status NCT00815256 Phase 3
3 Repeatability and Reliability of Galilei Corneal Topographer Measurements in Keratoconus Completed NCT03511495
4 A Study to Test the Potential of Brillouin Microscopy for Biomechanical Properties Measurements in Human Cornea Recruiting NCT03220529

Search NIH Clinical Center for Corneal Degeneration

Genetic Tests for Corneal Degeneration

Anatomical Context for Corneal Degeneration

MalaCards organs/tissues related to Corneal Degeneration:

40
Eye, Endothelial, Testes, Brain, Bone Marrow, Bone, Heart

Publications for Corneal Degeneration

Articles related to Corneal Degeneration:

(show top 50) (show all 262)
# Title Authors PMID Year
1
Optical coherence elastography by ambient pressure modulation for high-resolution strain mapping applied to patterned cross-linking. 61
31964268 2020
2
Secondary Corneal Myxoma After DMEK (Descemet Membrane Endothelial Keratoplasty). 61
31511491 2019
3
Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity. 61
31153950 2019
4
[Muraine sutures accelerate healing of corneal hydrops in acute keratotorus]. 61
30229285 2019
5
Successful Treatment of Corneal Opacification with Associated Thickened Epithelium by Simple Peeling: Acquired Corneal Subepithelial Hypertrophy (ACSH). 61
31686959 2019
6
Corneal Stromal Transplantation With Human-derived Acellular Dermal Matrix for Pellucid Marginal Corneal Degeneration: A Nonrandomized Clinical Trial. 61
30801540 2019
7
Deep blue dot corneal degeneration: confocal characteristics. 61
29423782 2019
8
In Vivo Confocal Microscopy of Cornea in Patients with Terrien's Marginal Corneal Degeneration. 61
31380111 2019
9
Peripheral hypertrophic subepithelial corneal degeneration: clinical aspects related to in vivo confocal microscopy and optical coherence tomography. 61
31440105 2019
10
[Features of the course of anterior uveitis associated with HLA-B27 antigen]. 61
31691649 2019
11
[Terrien's marginal corneal degeneration in a six-year-old girl: A case report]. 61
30391186 2018
12
Crescentic Tuck in Lamellar Keratoplasty-A Novel Technique in a Case of Advanced Pellucid Marginal Corneal Degeneration. 61
30160655 2018
13
Efficacy and safety of amantadine for the treatment of L-DOPA-induced dyskinesia. 61
29511826 2018
14
Lipoidal corneal degeneration in aged falcons. 61
29350449 2018
15
Corneal hysteresis and corneal resistance factor in pellucid marginal corneal degeneration. 61
29988910 2018
16
Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges. 61
30206563 2018
17
Acute hydrops with a 180-degree massive edematous cavern demonstrated by three dimensional view of anterior segment optical coherence tomography in a patient with pellucid marginal corneal degeneration, a case report. 61
29653558 2018
18
[Bandage keratoplasty therapeutic-optical in treatment of progressing pellucid marginal corneal degeneration (a preliminary report)]. 61
30499514 2018
19
Spontaneous corneal perforation in Terrien's marginal degeneration in childhood: A case report. 61
29245335 2017
20
Analysis of long-term visual quality with numerical 3D ray tracing after corneal crosslinking treatment. 61
29240126 2017
21
Combined Cataract/DSEK/DMEK: Changing Expectations. 61
28726355 2017
22
[Acute spontaneous corneal hydrops in a patient with pellucid marginal corneal degeneration]. 61
28579380 2017
23
Peripheral Hypertrophic Subepithelial Corneal Degeneration. 61
28594994 2017
24
An Unusual Corneal Degeneration. 61
28334307 2017
25
A unique case of keratoconus with Cogan-Reese syndrome and secondary glaucoma. 61
28300746 2017
26
[Results of corneal crosslinking for pellucid marginal corneal degeneration]. 61
28745658 2017
27
Comparison of corneal degeneration and calcific band keratopathy from 2000 to 2013 in 69 horses. 61
26773714 2017
28
[Peripheral hypertrophic subepithelial corneal degeneration visualized by in vivo confocal microscopy]. 61
27843083 2016
29
National survey of pellucid marginal corneal degeneration in Japan. 61
27401170 2016
30
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. 61
27151912 2016
31
Amniotic membrane transplantation: Current indications in a tertiary eye hospital of eastern Nepal. 61
28478469 2016
32
Post-Mortem Corneal Thickness Measurements with a Portable Optical Coherence Tomography System: a Reliability Study. 61
27457021 2016
33
Contact-mediated control of radial migration of corneal epithelial cells. 61
27563231 2016
34
The use of intracorneal ring segments in keratoconus. 61
26981548 2016
35
Degeneration and Regeneration of Subbasal Corneal Nerves after Infectious Keratitis: A Longitudinal In Vivo Confocal Microscopy Study. 61
26256833 2015
36
Re: peripheral hypertrophic subepithelial corneal degeneration - clinical and histopathological features. 61
25809296 2015
37
Staging of development in Terrien's degeneration based on corneal curvatures detected by optical coherence tomography. 61
25994951 2015
38
Climatic droplet keratopathy: an old disease in new clothes. 61
25626588 2015
39
A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association. 61
26483674 2015
40
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. 61
25712132 2015
41
Traumatic keratoplasty rupture resulting from continuous positive airway pressure mask. 61
25961494 2015
42
Loss of corneal epithelial heparan sulfate leads to corneal degeneration and impaired wound healing. 61
26024086 2015
43
A retrospective clinical study of Xinjiang Uygur patients with corneal allograft rejection. 61
26064353 2015
44
Comparison of Scheimpflug imaging analysis of pellucid marginal corneal degeneration and keratoconus. 61
25504087 2015
45
Peripheral hypertrophic subepithelial corneal degeneration presenting with bilateral nasal and temporal corneal changes. 61
25277306 2015
46
Peripheral hypertrophic subepithelial corneal degeneration - clinical and histopathological features. 61
24655442 2014
47
Re: Gore et al.: Peripheral hypertrophic subepithelial corneal degeneration: nomenclature, phenotypes, and long-term outcomes (Ophthalmology 2013;120:892-8). 61
24484990 2014
48
[Salzmann's nodular corneal degeneration - a case report]. 61
24771158 2014
49
Simultaneous conventional photorefractive keratectomy and corneal collagen cross-linking for pellucid marginal corneal degeneration. 61
24702579 2014
50
Characteristics of corneal topographic and pachymetric patterns in patients with pellucid marginal corneal degeneration. 61
24292162 2014

Variations for Corneal Degeneration

Expression for Corneal Degeneration

Search GEO for disease gene expression data for Corneal Degeneration.

Pathways for Corneal Degeneration

GO Terms for Corneal Degeneration

Biological processes related to Corneal Degeneration according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 SERINC1 PCSK9 MBTPS2 LPA LDLRAP1 APOB
2 visual perception GO:0007601 9.78 VSX1 TGFBI KRT12 KERA
3 sodium ion transport GO:0006814 9.7 SLC4A7 SLC4A4 SLC4A11
4 cholesterol homeostasis GO:0042632 9.69 PCSK9 LDLRAP1 APOB
5 steroid metabolic process GO:0008202 9.67 PCSK9 MBTPS2 LDLRAP1 APOB
6 anion transmembrane transport GO:0098656 9.63 SLC4A7 SLC4A4 SLC4A11
7 bicarbonate transport GO:0015701 9.61 SLC4A7 SLC4A4 SLC4A11
8 lipoprotein metabolic process GO:0042157 9.55 PCSK9 APOB
9 cholesterol transport GO:0030301 9.54 LDLRAP1 APOB
10 regulation of intracellular pH GO:0051453 9.5 SLC4A7 SLC4A4 SLC4A11
11 low-density lipoprotein particle remodeling GO:0034374 9.49 LPA APOB
12 cholesterol metabolic process GO:0008203 9.46 PCSK9 MBTPS2 LDLRAP1 APOB
13 inorganic anion transport GO:0015698 9.43 SLC4A7 SLC4A4 SLC4A11
14 low-density lipoprotein particle clearance GO:0034383 9.13 PCSK9 LDLRAP1 APOB
15 anion transport GO:0006820 8.8 SLC4A7 SLC4A4 SLC4A11

Molecular functions related to Corneal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.54 SLC4A7 SLC4A4 SLC4A11
2 apolipoprotein binding GO:0034185 9.32 PCSK9 LPA
3 anion transmembrane transporter activity GO:0008509 9.26 SLC4A7 SLC4A4
4 sodium:bicarbonate symporter activity GO:0008510 9.16 SLC4A7 SLC4A4
5 low-density lipoprotein particle receptor binding GO:0050750 9.13 PCSK9 LDLRAP1 APOB
6 inorganic anion exchanger activity GO:0005452 8.8 SLC4A7 SLC4A4 SLC4A11

Sources for Corneal Degeneration

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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