KERH
MCID: KRT019
MIFTS: 66

Keratitis, Hereditary (KERH)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Keratitis, Hereditary

MalaCards integrated aliases for Keratitis, Hereditary:

Name: Keratitis, Hereditary 57 29 6 44 39 71
Keratitis 57 12 13 54 44 15 17 71 32
Autosomal Dominant Keratitis 12 58 73 36 15
Hereditary Keratitis 12 20 58
Dominantly Inherited Keratitis 20
Keratitis, Autosomal Dominant 6
Keratitis Hereditary 73
Kerh 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant keratitis
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
keratitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111383 DOID:4677
OMIM® 57 148190
KEGG 36 H01273
ICD9CM 34 370
NCIt 50 C26805
SNOMED-CT 67 193757003
ICD10 32 H16 H16.9
MESH via Orphanet 45 C537022
ICD10 via Orphanet 33 H16.8
UMLS via Orphanet 72 C1835698
Orphanet 58 ORPHA2334
MedGen 41 C1835698
SNOMED-CT via HPO 68 246957002 263681008 5888003
UMLS 71 C0022568 C1835698

Summaries for Keratitis, Hereditary

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2334DefinitionHereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.EpidemiologyThe prevalence is unknown.Clinical descriptionThe presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.EtiologyThe syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratitis, Hereditary, also known as keratitis, is related to fungal keratitis and herpes simplex virus keratitis, and has symptoms including visual disturbance An important gene associated with Keratitis, Hereditary is PAX6 (Paired Box 6), and among its related pathways/superpathways are IL-17 Family Signaling Pathways and NOD-like receptor signaling pathway. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and skin, and related phenotypes are opacification of the corneal stroma and keratitis

Disease Ontology : 12 A corneal disease that is characterized by inflammation of the cornea.

OMIM® : 57 Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995). (148190) (Updated 05-Mar-2021)

KEGG : 36 Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.

UniProtKB/Swiss-Prot : 73 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Wikipedia : 74 Keratitis is a condition in which the eye's cornea, the clear dome on the front surface of the eye,... more...

Related Diseases for Keratitis, Hereditary

Diseases related to Keratitis, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 807)
# Related Disease Score Top Affiliating Genes
1 fungal keratitis 33.0 TLR4 TLR2
2 herpes simplex virus keratitis 32.9 TAT CCR6
3 corneal disease 31.5 PITX2 PAX6 NLRP3 IL17A GJB2 FOXE3
4 eye disease 31.4 PITX2 PAX6 MYOC KRT13 IL17A FOXC1
5 rosacea 31.3 TLR2 IL17A CCR6
6 bacterial infectious disease 31.2 TLR4 TLR2 IL17A CXCL2 CCR6
7 candidiasis 31.1 TLR4 TLR2 NLRP3 IL17A
8 disease by infectious agent 31.1 TLR4 TLR2 IL17A CCR6
9 intraocular pressure quantitative trait locus 31.1 PITX2 PAX6 MYOC FOXC1
10 amblyopia 30.9 PHOX2A PAX6 KIF21A FOXE3
11 mycobacterium abscessus 30.9 TLR2 NLRP3
12 chlamydia 30.9 TLR4 TLR2 IL17A
13 lagophthalmos 30.9 PHOX2A KIF21A
14 rheumatoid arthritis 30.8 TLR4 TLR2 IL17A CXCL2 CXCL1 CCR6
15 streptococcus pneumonia 30.8 TLR4 TLR2 NLRP3 IL17A CCR6
16 hidradenitis 30.8 NLRP3 IL17A GJB2
17 hidradenitis suppurativa 30.8 NLRP3 IL17A GJB2
18 arthritis 30.7 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
19 fungal infectious disease 30.7 TLR4 TLR2 IL17A CCR6
20 dermatitis, atopic 30.7 TLR4 TLR2 IL17A CCR6
21 immune deficiency disease 30.6 TLR2 TAT MYOC IL17A CXCL1 CCR6
22 mycobacterium tuberculosis 1 30.6 TLR4 TLR2 IL17A CCR6
23 nonsyndromic hearing loss and deafness, dfnb1 30.6 GJB6 GJB2
24 reactive arthritis 30.5 TLR4 TLR2 IL17A CCR6
25 skin disease 30.5 TLR2 IL17A GJB6 GJB2 CCR6
26 contact dermatitis 30.5 TLR4 TLR2 IL17A CCR6
27 aniridia 1 30.5 PITX2 PAX6 MYOC FOXE3 FOXC1 ELP4
28 glaucoma, primary open angle 30.5 PITX2 PAX6 MYOC FOXC1
29 nonsyndromic hearing loss and deafness, dfna3 30.5 GJB6 GJB2
30 crohn's disease 30.5 TLR4 TLR2 NLRP3 IL17A CCR6
31 proteasome-associated autoinflammatory syndrome 1 30.5 TLR4 TLR2 NLRP3 IL17A
32 neurosyphilis 30.4 TLR2 IL17A
33 leprosy 3 30.3 TLR4 TLR2 IL17A CCR6
34 otitis media 30.3 TLR4 TLR2 IL17A
35 meningitis 30.2 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
36 inflammatory bowel disease 30.2 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
37 dfnb1 30.2 MYO7A GJB6 GJB2
38 macular degeneration, age-related, 1 30.2 PAX6 NLRP3 MYOC MYO7A CCR6
39 deafness, autosomal recessive 1a 30.2 MYO7A GJB6 GJB2
40 aphthous stomatitis 30.1 TLR4 TLR2 NLRP3
41 aspergillosis 30.1 TLR4 TLR2 CCR6
42 congenital ptosis 30.1 PHOX2A PAX6 KIF21A
43 middle ear disease 30.1 TLR4 TLR2 GJB2 CCR6
44 cystitis 30.1 TLR4 IL17A CXCL1
45 osteomyelitis 30.1 TLR4 TLR2 NLRP3
46 parasitic protozoa infectious disease 30.1 TLR4 TLR2 IL17A CCR6
47 spondyloarthropathy 1 30.1 TLR4 IL17A CCR6
48 peritonitis 30.1 TLR4 TLR2 NLRP3 CXCL2 CXCL1
49 pneumonia 30.1 TLR4 TLR2 IL17A CXCL2 CXCL1
50 salmonellosis 30.0 TLR4 TLR2 NLRP3 IL17A CCR6

Graphical network of the top 20 diseases related to Keratitis, Hereditary:



Diseases related to Keratitis, Hereditary

Symptoms & Phenotypes for Keratitis, Hereditary

Human phenotypes related to Keratitis, Hereditary:

31
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 31 HP:0007759
2 keratitis 31 HP:0000491

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Eyes:
hereditary childhood corneal clouding
recurrent stromal keratitis and vascularization

Misc:
propensity for early recurrence after keratoplasty

Clinical features from OMIM®:

148190 (Updated 05-Mar-2021)

UMLS symptoms related to Keratitis, Hereditary:


visual disturbance

GenomeRNAi Phenotypes related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.86 MYOC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.86 FOXC1 FOXE3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.86 NLRP3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.86 MYOC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.86 FOXE3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.86 FOXC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.86 FOXE3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.86 FOXE3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.86 FOXE3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.86 FOXC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.86 FOXE3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.86 FOXC1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.86 MYOC
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.86 MYOC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.86 NLRP3
16 Decreased viability GR00106-A-0 9.66 ELP4
17 Decreased viability GR00240-S-1 9.66 PHOX2A
18 Decreased viability GR00249-S 9.66 PITX2 TLR4
19 Decreased viability GR00342-S-3 9.66 TLR4
20 Decreased viability GR00381-A-1 9.66 MYO7A MYOC
21 Decreased viability GR00386-A-1 9.66 GJB6 IL17A KIF21A MYO7A NLRP3 PAX6
22 Decreased viability GR00402-S-2 9.66 CXCL1 ELP4 GJB2 IL17A KIF21A PITX2

MGI Mouse Phenotypes related to Keratitis, Hereditary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 CCR6 FOXC1 GJB2 GJB6 IL17A KIF21A
2 nervous system MP:0003631 10.03 CCR6 FOXC1 GJB2 GJB6 KIF21A MYO7A
3 no phenotypic analysis MP:0003012 9.7 GJB2 GJB6 IL17A MYO7A MYOC PHOX2A
4 normal MP:0002873 9.65 CCR6 FOXC1 GJB2 KIF21A MYOC NLRP3
5 vision/eye MP:0005391 9.32 CXCL2 FOXC1 GJB2 KIF21A MYO7A MYOC

Drugs & Therapeutics for Keratitis, Hereditary

Drugs for Keratitis, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
2 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Acyclovir Approved Phase 4 59277-89-3 2022
7
Difluprednate Approved Phase 4 23674-86-4 443936
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 Antirheumatic Agents Phase 4
10 Immunologic Factors Phase 4
11 Immunosuppressive Agents Phase 4
12 Calcineurin Inhibitors Phase 4
13 Hormone Antagonists Phase 4
14 Hormones Phase 4
15 Melanocyte-Stimulating Hormones Phase 4
16 Adrenocorticotropic Hormone Phase 4
17 beta-Endorphin Phase 4
18 Methylprednisolone Acetate Phase 4
19 Cyclosporins Phase 4
20 valacyclovir Phase 4
21
Voriconazole Approved Phase 3 137234-62-9 71616
22
Cefazolin Approved Phase 3 25953-19-9 656510 33255
23
Tetracaine Approved, Vet_approved Phase 3 94-24-6 5411
24
Cyclopentolate Approved Phase 3 512-15-2 2905
25
Gatifloxacin Approved, Investigational Phase 3 112811-59-3 5379
26
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
27
Besifloxacin Approved Phase 3 141388-76-3
28
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
30
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
31
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
32
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
33
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
34
Polyestradiol phosphate Approved Phase 3 28014-46-2
35
Moxifloxacin Approved, Investigational Phase 3 151096-09-2, 354812-41-2 152946
36
Polihexanide Approved, Investigational Phase 3 28757-47-3
37
Natamycin Approved Phase 3 7681-93-8 5281099
38
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
39
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
40
Povidone-iodine Approved Phase 3 25655-41-8
41
Iodine Approved, Investigational Phase 3 7553-56-2 807
42
Povidone Approved Phase 3 9003-39-8 131751496
43
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
44 Dibrompropamidine Experimental Phase 3 496-00-4
45
Propamidine Experimental, Investigational Phase 3 104-32-5
46
Cadexomer iodine Experimental Phase 3 94820-09-4
47 Cytochrome P-450 Enzyme Inhibitors Phase 3
48 Cytochrome P-450 CYP3A Inhibitors Phase 3
49 Parasympatholytics Phase 3
50 Anti-Inflammatory Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 Randomized, Parallel Groups, Multicenter and Blind to Evaluators Clinical Trial, to Evaluate the Efficacy and Safety of PRGF-Endoret Eye Drops, in Patients With Stage 2 and 3 Neurotrophic Keratitis Unknown status NCT02707120 Phase 4 PRGF-Endoret;Artificial tears eye-drops
2 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
3 A Single-site, Open-Label Prospective Evaluation of Biocompatibility and Corneal Staining Associated With Use of Bausch & Lomb (B+L) BioTrue Contact Lens Multi-purpose Solution (MPS) and B+L PureVision Contact Lenses. Completed NCT01268306 Phase 4
4 A Multicenter, Open-label Study to Assess the Efficacy and Safety of Acthar® Gel in Subjects With Severe Keratitis Completed NCT04169061 Phase 4 Acthar
5 Cross-linking for Corneal Ulcers Treatment Trial Recruiting NCT02570321 Phase 4
6 A Randomized Trial of Topical Corticosteroid Use in Addition to Oral Antivirals for Prevention of Recurrence of Herpes Simplex Virus (HSV) Keratitis Recruiting NCT03626376 Phase 4 oral acyclovir 400 mg BID OR valacyclovir 500 mg qdaily;oral acyclovir 400 mg BID OR valacyclovir 500 mg qdaily + topical corticosteroid eye drops
7 A Phase IV Open-Label Clinical Trial to Evaluate the Efficacy of Ikervis® on Clinical Parameters and Molecular/Cellular Biomarkers in Dry Eye Patients With Severe Keratitis Who Have Not Improved Despite Regular Use of Tear Substitutes Before and After Exposure to an Adverse Controlled Environment Recruiting NCT04492878 Phase 4 IKERVIS®1mg/mL
8 An 8-week, Multicenter, Open Label, Prospective Study With 24 Weeks of Follow-up to Evaluate Safety and Efficacy of OXERVATE™ 0.002% (20 mcg/mL) Cenegermin-bkbj Ophthalmic Solution in Patients With Stage 1 Neurotrophic Keratitis (NK) Recruiting NCT04485546 Phase 4 cenegermin-bkbj
9 Comparison Between the Sensibility of the Flocked Swab and the Traditional Fiber Swab for the Diagnosis of the Herpes Simplex Epithelial Keratitis Terminated NCT02045082 Phase 4
10 Effectiveness of Corneal Accelerated Crosslinking Versus Conventional Treatment for Infectious Keratitis Unknown status NCT02865876 Phase 3
11 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
12 Combination Treatment of 5% Natamycin and 1% Voriconazole in Fungal Keratitis: a Prospective Randomized Double Masked Clinical Trial Unknown status NCT03230058 Phase 2, Phase 3 Group 1 Natamycin 5% Suspension + voriconazole 1% eye drops; Group 2 Natamycin 5% Suspension + Vehicle eye drops
13 Comparison of Autologous Serum 20% and Autologous Serum 50% for the Treatment of Severe Dry Eye Unknown status NCT03436576 Phase 3 Autologous Serum 20%;Autologous Serum 50%
14 Mycotic Antimicrobial Localized Injection for Treatment of Corneal Ulcers Completed NCT02731638 Phase 3 Intrastromal voriconazole;Natamycin
15 Swiss PACK-CXL (Photoactivated Chromophore for Infectious Keratitis Cross-linking) Multicenter Trial for the Treatment of Infectious Keratitis Completed NCT02717871 Phase 3 Cefazolin in combination with either tobramycin or gentamicin;Cycloplegic agents (cyclopentolate 1% eye drops);Fluoroquinolones (Besifloxacin ; ciprofloxacin ; gatifloxacin ; levofloxacin ; moxifloxacin ; ofloxacin );Corticosteroids (prednisolone acetate 0.5% or 1% eye drops)
16 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
17 An Evaluation of the Safety and Efficacy of the Administration of a Fixed Combination of Moxifloxacin 0.5% and Dexamethasone 0.1% Eye Drops Compared With the Individual Administration of Moxifloxacin 0.5% and Dexamethasone 0.1% in the Treatment of Bacterial Ocular Inflammation and Infection (Blepharitis and/or Keratitis and/or Conjunctivitis) Completed NCT00732446 Phase 3 Moxifloxacin and Dexamethasone combined;Moxifloxacin;Dexamethasone
18 Efficacy and Safety Assessment of T4020 Versus Vehicule in Patients With Chronic Neurotrophic Keratitis or Corneal Ulcer Completed NCT01794312 Phase 3
19 A Multicenter, Randomized, Double-Masked, 3 Parallel Arms, Placebo Controlled Study to Assess the Efficacy and Safety of NOVA22007 1mg/mL (Ciclosporin/Cyclosporine) Eye Drops, Emulsion Administered in Paediatric Patients With Active Severe Vernal Keratoconjunctivitis With Severe Keratitis Completed NCT01751126 Phase 3 NOVA22007 ''Ciclosporin'';Placebo
20 A Clinical Safety and Efficacy Evaluation of Zylet® Versus Tobradex in the Treatment of Blepharokeratoconjunctivitis Completed NCT01028027 Phase 3 Loteprednol and tobramycin;Tobramycin and dexamethasone
21 Steroids and Cross-linking for Ulcer Treatment Recruiting NCT04097730 Phase 3 Moxifloxacin Ophthalmic;Difluprednate Ophthalmic;Riboflavin Ophthalmic
22 A Phase IIIb, Prospective, Interventional, Multicentre, 3-year Study to Explore the Long-term Evolution of Sign and Symptoms, and Occurence of Complications in Dry Eye Patients With Severe Keratitis Receiving Ikervis® (1mg/mL Ciclosporin) Recruiting NCT04144413 Phase 3 Open-label Ikervis;Masked Ikervis
23 Randomized, Active-Controlled, Phase 3 Study to Evaluate Efficacy, Safety and Tolerability of 0.08% PHMB Ophthalmic Solution in Comparison With 0.02% PHMB + 0.1% Propamidine Combination Therapy in Subjects Affected by Acanthamoeba Keratitis Active, not recruiting NCT03274895 Phase 3 PHMB 0.08%;Propamidine 0.1%;placebo;PHMB 0.02%
24 A Clinical Trial of the Treatment of Fungal Corneal Ulcers With Povidone-Iodine Terminated NCT00516399 Phase 3 povidone-iodine 1.25% ophthalmic solution;natamycin ophthalmic suspension, USP 5%
25 Association of Azithromycin 1,5%/Loteprednol 0,5% Eye Drops Versus Individual Administration of Azithromycin 1,5% and Loteprednol 0,5% in the Treatment of Ocular Inflammation and Infection Withdrawn NCT01721694 Phase 3 azithromycin 1.5%/Loteprednol 0,5% + placebo;azithromycin 1.5% + Loteprednol 0,5% (separately)
26 Collagen Cross-linking in Infectious Keratitis Trial Completed NCT01831206 Phase 2
27 Pilot Phase I/II Study of the Treatment of Classic Central Serous Chorioretinopathy With Topical Interferon Gamma-1b Completed NCT01468337 Phase 1, Phase 2 Interferon gamma-1b
28 An 8-week Phase II, Multicenter, Randomized, Double-masked, Vehicle Controlled Parallel Group Study With a 24 or 32 Week Follow-up to Evaluate the Efficacy of rhNGF 20 µg/ml vs Vehicle in Patients With Stage 2 and 3 Neurotrophic Keratitis Completed NCT02227147 Phase 2 rhNGF 20µg/ml
29 An 8-week Phase I/II, Multicenter, Randomized, Double-masked, Vehicle Controlled Parallel Group Study to Evaluate the Safety and Efficacy of Two Doses of Recombinant Human Nerve Growth Factor in Patients With Stage 2 and 3 of NK Completed NCT01756456 Phase 1, Phase 2 rhNGF 10 μg/ml;rhNGF 20 μg/ml
30 Mycotic Ulcer Treatment Trial Therapeutic Exploratory Study Completed NCT00557362 Phase 1, Phase 2 Natamycin 5%;Voriconazole
31 A Clinical Trial of Povidone-Iodine for the Treatment of Bacterial Corneal Ulcers Completed NCT00386958 Phase 2 Povidone-Iodine
32 Mucin Balls and Corneal Inflammation Events Completed NCT01437319 Phase 1, Phase 2
33 Safety and Efficacy Study of Gatifloxacin Compared With Ciprofloxacin in Patients With Acute Bacterial Corneal Ulcers Completed NCT00651586 Phase 2 Gatifloxacin 0.3% ophthalmic solution;Ciprofloxacin 0.3% ophthalmic solution
34 A Randomized, Double-masked, Vehicle-controlled Study Evaluating the Efficacy and Safety of Two Doses of OCS 01 Compared to Vehicle in the Treatment of Inflammation and Pain Following Cataract Surgery Completed NCT04130802 Phase 2 OCS-01 - Dexamethasone Cyclodextrin Nanoparticle Ophthalmic Suspension 1.5% mg/mL;Placebo
35 Parasitic Ulcer Treatment Trial Pilot Recruiting NCT03484507 Phase 2 Chlorhexidine;Povidone-Iodine;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose
36 CRISPR/Cas9 mRNA Instantaneous Gene Editing Therapy Assisted Corneal Transplantation in the Treatment of Refractory Viral Keratitis Recruiting NCT04560790 Phase 1, Phase 2 BD111 Adult single group Dose
37 Efficacy, Safety and Pharmacokinetics of 3 Doses of REC 0/0559 Eye Drops for the Treatment of Stage 2 (Moderate) and 3 (Severe) Neurotrophic Keratitis in Adult Patients Recruiting NCT04276558 Phase 2 Udonitrectag
38 Safety and Effectiveness of the PXL Platinum 330 System for Corneal Collagen Cross-Linking With Corneal Thinning Conditions Recruiting NCT04213885 Phase 2
39 Phase 2, Randomized, Double-masked, Vehicle-controlled, Dose-escalation Study Evaluating Efficacy/Safety of Nexagon in Subjects With Persistent Corneal Epithelial Defects (PED) Resulting From Corneal Epithelial Debridement During Diabetic Vitrectomy Surgery, Herpes Simples Virus (HSV) Keratitis, Herpes Zoster Virus (HZV) Keratitis, Corneal Burns, Post-photorefractive Keratectomy (Post-PRK), or Post-corneal Transplant Surgery. Terminated NCT01165450 Phase 2 Nexagon;Vehicle only
40 A Prospective, Double-masked, Placebo Controlled Comparison of Topical 0.15% Gancyclovir Gel (Zirgan) Versus 0.3% Hypromellose Gel (Genteal Gel; Placebo) for the Treatment of Herpes Zoster Keratitis Terminated NCT02382588 Phase 2 gancyclovir gel;Hypromellose gel
41 Randomized, Double-Masked, Placebo-Controlled Multiple-Dose Phase 1 Study to Evaluate the Safety and Tolerability of Different Doses of Preservative-free Polyhexamethylene Biguanide (PHMB) Ophthalmic Solution in Healthy Subjects Completed NCT02506257 Phase 1 0.04% PHMB;0.06% PHMB;0.08% PHMB;PHMB Vehicle
42 Safety and Effectiveness of the PXL-Platinum 330 System for Corneal Collagen Cross-Linking in Eyes With Corneal Thinning Conditions Recruiting NCT03918408 Phase 1
43 Early Amniotic Membrane Transplantation in Bacterial Keratitis Unknown status NCT02716883
44 Retrospective Study of the in Vivo Confocal Microscopic Findings and the Treatment Outcome of Acanthamoebic Keratitis Unknown status NCT02763605
45 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
46 Observation on Effect of Anti--inflammatory and Inhibition of Recurrence on the Herpes Simplex Keratitis After Topical NSAIDs Administration Unknown status NCT03013959 Pranoprofen
47 A Randomized Controlled Clinical Trial of Corneal Debridement for the Treatment of Herpes Simplex Epithelial Keratitis Unknown status NCT03217474 Ganciclovir (GCV)
48 REGENERATING AGENT (OTR4120) AND BACTERIAL KERATITIS : A RANDOMISED TRIAL Unknown status NCT02016989
49 Association of Type Three Secretion System (T3SS) of Pseudomonas Aeruginosa With Pathogenesis of Contact Lens-Associated Microbial Keratitis (CLMK) Unknown status NCT01925846
50 Microbiological Diagnosis of Infectious Keratitis to Pathogenic Fastidious Germs Unknown status NCT02819232

Search NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Loteprednol
loteprednol etabonate
Tropicamide

Cochrane evidence based reviews: keratitis

Genetic Tests for Keratitis, Hereditary

Genetic tests related to Keratitis, Hereditary:

# Genetic test Affiliating Genes
1 Keratitis, Hereditary 29 PAX6

Anatomical Context for Keratitis, Hereditary

MalaCards organs/tissues related to Keratitis, Hereditary:

40
Eye, Endothelial, Skin, T Cells, Neutrophil, Brain, Thyroid

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 14451)
# Title Authors PMID Year
1
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. 57 6 54 61
7668281 1995
2
Autosomal dominant keratitis: a possible aniridia variant. 61 6 57
7627897 1995
3
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. 57 61
1951425 1991
4
Dominantly inherited keratitis. 61 57
3778274 1986
5
Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. 57
4069606 1985
6
Corneal involvement in epidermolysis bullosa simplex. 57
7362501 1980
7
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 61 54
20230788 2010
8
Toll-like receptors involved in the pathogenesis of experimental Candida albicans keratitis. 61 54
19933194 2010
9
Chemokine CXCL1/KC and its receptor CXCR2 are responsible for neutrophil chemotaxis in adenoviral keratitis. 54 61
19642907 2009
10
Activation of Toll-like receptors 2 and 4 in Aspergillus fumigatus keratitis. 54 61
19474209 2009
11
A human apolipoprotein E mimetic peptide effectively inhibits HSV-1 TK-positive and TK-negative acute epithelial keratitis in rabbits. 54 61
19219680 2009
12
Expression of toll-like receptors in the Fusarium solani infected cornea. 61 54
18398706 2008
13
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 61 54
16917729 2006
14
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 61 54
16172043 2005
15
Role and regulation of CXC-chemokines in acute experimental keratitis. 54 61
12565810 2003
16
IL-17 expression in human herpetic stromal keratitis: modulatory effects on chemokine production by corneal fibroblasts. 61 54
12421973 2002
17
Expression of macrophage migration inhibitory factor during Pseudomonas keratitis. 54 61
11446464 2001
18
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 54 61
11309364 2001
19
PAX6 mutations reviewed. 54 61
9482572 1998
20
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 54 61
7648039 1995
21
Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. 54 61
8339559 1993
22
Antagonists and inhibitors of lipid mediators in experimental inflammation of the cornea. 61 54
8106842 1993
23
Induction of autoantibodies to rat corneal protein 54. 54 61
1563095 1992
24
Detection of herpes simplex virus DNA sequences in corneal transplant recipients by polymerase chain reaction assays. 54 61
1650662 1991
25
Cell mediated immunity in herpes simplex keratitis in man. 54 61
2275344 1990
26
The influence of a fish oil dietary supplement on immunogenic keratitis. 54 61
1696943 1990
27
Statistical optimization of hyaluronic acid enriched ultradeformable elastosomes for ocular delivery of voriconazole via Box-Behnken design: in vitro characterization and in vivo evaluation. 61
33342315 2021
28
Topical delivery of nerve growth factor for treatment of ocular and brain disorders. 61
33510063 2021
29
A systematic review of gut microbiome and ocular inflammatory diseases: Are they associated? 61
33595467 2021
30
Long term keratits treatment with topical cyclosporin a in autoimmune polyglandular syndrome type 1. 61
33490716 2021
31
Neurotrophic Keratopathy: Ophthalmology's Diabetic Foot Problem. 61
33599469 2021
32
Management of refractory Acanthamoeba keratitis, two cases. 61
33409641 2021
33
12-year analysis of incidence, microbiological profiles and in vitro antimicrobial susceptibility of infectious keratitis: the Nottingham Infectious Keratitis Study. 61
32580955 2021
34
Accelerated vs. conventional collagen cross-linking for infectious keratitis. 61
33603892 2021
35
Neurotrophic Keratitis: Do Not Be Insensitive. 61
33577221 2021
36
A "shining" example of interstitial keratitis. 61
33437893 2021
37
Tintelnotia destructans Keratitis: A Clinicopathological Report and Review of the Literature. 61
33252388 2021
38
On the Horizon: Biologics and Nutrients for Neurotrophic Keratitis. 61
33156130 2021
39
Ethylenediaminetetraacetic Acid Chelation in Herpes Zoster Ophthalmicus Is Associated With a High Rate of Corneal Melt and Perforation. 61
33264147 2021
40
Impact of COVID-19 pandemic and national lockdown on ocular trauma at a tertiary eye care institute. 61
33595506 2021
41
Extensive autoimmune keratolysis with subsequent corneal perforation managed with tectonic endothelial keratoplasty. 61
33604490 2021
42
Effect of steroid eyedrops after trabeculectomy in glaucoma patients: a keratograph analysis. 61
33567039 2021
43
Influence of Pseudomonas autoinducer N-3-oxododecanoyl homoserine lactone on human corneal epithelial cells. 61
33175611 2021
44
Quercetin amelioratesAspergillus fumigatuskeratitis by inhibiting fungal growth, toll-like receptors and inflammatory cytokines. 61
33550031 2021
45
Clinical Characteristics and Outcomes of Short-term Repeat Corneal Transplantation. 61
33555976 2021
46
Incidence of Fungal Infection in Positive Donor Rim Cultures after Corneal Transplantation. 61
33560899 2021
47
Amniotic membrane grafting for traumatic complete spectaculectomy and keratomalacia in a Boelen's python (Simalia boeleni). 61
33590964 2021
48
Purpureocillium roseum sp. nov. A new ocular pathogen for humans and mice resistant to antifungals. 61
33064905 2021
49
Establishment of an Acanthamoeba keratitis mouse model confirmed by amoebic DNA amplification. 61
33603075 2021
50
Differential expression of Acanthamoeba castellanii proteins during amoebic keratitis in rats. 61
33338467 2021

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.917-2A>T SNV Pathogenic 3469 rs587776571 11:31815103-31815103 11:31793555-31793555
2 ELP4 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
3 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
4 PAX6 NM_019040.5(ELP4):c.*3706T>A SNV Uncertain significance 877248 11:31808778-31808778 11:31787230-31787230
5 PAX6 NM_019040.5(ELP4):c.*4571A>G SNV Uncertain significance 877418 11:31809643-31809643 11:31788095-31788095
6 ELP4 NM_019040.5(ELP4):c.*6203C>T SNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
7 ELP4 NM_019040.5(ELP4):c.*6227dup Duplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751
8 PAX6 NM_019040.5(ELP4):c.*3703_*3705del Deletion Uncertain significance 304320 rs886048189 11:31808775-31808777 11:31787227-31787229
9 PAX6 NM_019040.5(ELP4):c.*1877A>G SNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
10 PAX6 NM_019040.5(ELP4):c.*2049A>G SNV Uncertain significance 304296 rs886048181 11:31807121-31807121 11:31785573-31785573
11 ELP4 NM_001368894.2(PAX6):c.*272T>G SNV Uncertain significance 877565 11:31811210-31811210 11:31789662-31789662
12 PAX6 NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) SNV Uncertain significance 877625 11:31815068-31815068 11:31793520-31793520
13 PAX6 NM_000280.4(PAX6):c.943T>C (p.Leu315=) SNV Uncertain significance 623768 rs373147550 11:31815075-31815075 11:31793527-31793527
14 PAX6 NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) SNV Uncertain significance 877705 11:31823191-31823191 11:31801643-31801643
15 PAX6 NM_001368894.2(PAX6):c.-167G>T SNV Uncertain significance 877746 11:31832414-31832414 11:31810866-31810866
16 PAX6 NM_019040.5(ELP4):c.*1626G>A SNV Uncertain significance 877788 11:31806698-31806698 11:31785150-31785150
17 PAX6 NM_019040.5(ELP4):c.*2041C>G SNV Uncertain significance 877851 11:31807113-31807113 11:31785565-31785565
18 PAX6 NM_019040.5(ELP4):c.*2522G>T SNV Uncertain significance 878063 11:31807594-31807594 11:31786046-31786046
19 PAX6 NM_019040.5(ELP4):c.*2845T>C SNV Uncertain significance 878112 11:31807917-31807917 11:31786369-31786369
20 ELP4 NM_001368894.2(PAX6):c.*90A>C SNV Uncertain significance 879183 11:31811392-31811392 11:31789844-31789844
21 PAX6 NM_001368894.2(PAX6):c.885A>G (p.Thr295=) SNV Uncertain significance 879236 11:31815273-31815273 11:31793725-31793725
22 PAX6 NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) SNV Uncertain significance 879290 11:31822244-31822244 11:31800696-31800696
23 PAX6 NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) SNV Uncertain significance 879291 11:31822293-31822293 11:31800745-31800745
24 PAX6 NM_001368894.2(PAX6):c.81G>A (p.Gln27=) SNV Uncertain significance 879329 11:31824312-31824312 11:31802764-31802764
25 PAX6 NM_019040.5(ELP4):c.*2387C>T SNV Uncertain significance 879478 11:31807459-31807459 11:31785911-31785911
26 PAX6 NM_019040.5(ELP4):c.*2992G>A SNV Uncertain significance 879572 11:31808064-31808064 11:31786516-31786516
27 PAX6 NM_019040.5(ELP4):c.*3303G>A SNV Uncertain significance 879619 11:31808375-31808375 11:31786827-31786827
28 PAX6 NM_019040.5(ELP4):c.*3588A>G SNV Uncertain significance 879675 11:31808660-31808660 11:31787112-31787112
29 PAX6 NM_019040.5(ELP4):c.*1404G>C SNV Uncertain significance 879370 11:31806476-31806476 11:31784928-31784928
30 PAX6 NM_019040.5(ELP4):c.*1615A>C SNV Uncertain significance 879749 11:31806687-31806687 11:31785139-31785139
31 PAX6 NM_019040.5(ELP4):c.*2716T>C SNV Uncertain significance 877953 11:31807788-31807788 11:31786240-31786240
32 PAX6 NM_019040.5(ELP4):c.*3207T>C SNV Uncertain significance 879928 11:31808279-31808279 11:31786731-31786731
33 PAX6 NM_019040.5(ELP4):c.*4056G>A SNV Uncertain significance 880152 11:31809128-31809128 11:31787580-31787580
34 PAX6 NM_019040.5(ELP4):c.*4441T>C SNV Uncertain significance 880208 11:31809513-31809513 11:31787965-31787965
35 PAX6 NM_019040.5(ELP4):c.*4542G>T SNV Uncertain significance 880209 11:31809614-31809614 11:31788066-31788066
36 PAX6 NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) SNV Uncertain significance 880469 11:31822351-31822351 11:31800803-31800803
37 PAX6 NM_019040.5(ELP4):c.*3715T>A SNV Uncertain significance 878294 11:31808787-31808787 11:31787239-31787239
38 PAX6 NM_019040.5(ELP4):c.*3772G>C SNV Uncertain significance 878295 11:31808844-31808844 11:31787296-31787296
39 ELP4 NM_001368894.2(PAX6):c.*626G>C SNV Uncertain significance 878545 11:31810856-31810856 11:31789308-31789308
40 ELP4 NM_001368894.2(PAX6):c.*247T>A SNV Uncertain significance 877566 11:31811235-31811235 11:31789687-31789687
41 PAX6 NM_001368894.2(PAX6):c.690C>T (p.Ser230=) SNV Uncertain significance 878681 11:31816212-31816212 11:31794664-31794664
42 PAX6 NM_001368894.2(PAX6):c.219G>A (p.Arg73=) SNV Uncertain significance 878737 11:31823289-31823289 11:31801741-31801741
43 PAX6 NM_019040.5(ELP4):c.*4323G>T SNV Uncertain significance 878980 11:31809395-31809395 11:31787847-31787847
44 LOC106014249 NM_000280.4(PAX6):c.-430G>C SNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
45 ELP4 NM_019040.5(ELP4):c.*6184A>G SNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
46 PAX6 NM_019040.5(ELP4):c.*3920C>T SNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
47 ELP4 NM_019040.5(ELP4):c.*6054A>T SNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
48 ELP4 NM_019040.5(ELP4):c.*6067del Deletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
49 PAX6 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG Indel Uncertain significance 304290 rs886048180 11:31806561-31806563 11:31785013-31785015
50 ELP4 NM_019040.5(ELP4):c.*6303C>G SNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827

Expression for Keratitis, Hereditary

Search GEO for disease gene expression data for Keratitis, Hereditary.

Pathways for Keratitis, Hereditary

Pathways related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 TLR2 IL17A CXCL2 CXCL1
2 11.82 TLR4 NLRP3 CXCL2 CXCL1
3 11.67 TLR4 CXCL2 CXCL1
4
Show member pathways
11.6 TLR4 IL17A CXCL1
5
Show member pathways
11.57 TLR4 TLR2 IL17A
6 11.47 TLR4 TLR2 CXCL2 CXCL1
7
Show member pathways
11.46 TLR4 TLR2 IL17A
8 11.32 TLR4 TLR2 CCR6
9 11.01 TLR4 TLR2 CXCL2 CXCL1
10 10.99 TLR4 TLR2 IL17A CXCL2 CXCL1

GO Terms for Keratitis, Hereditary

Biological processes related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 TLR4 TLR2 PITX2 PHOX2A PAX6 NLRP3
2 immune response GO:0006955 9.88 TLR4 TLR2 IL17A CXCL2 CXCL1 CCR6
3 response to lipopolysaccharide GO:0032496 9.83 TLR4 TLR2 GJB6 GJB2
4 cellular response to lipopolysaccharide GO:0071222 9.81 TLR4 NLRP3 CXCL2 CXCL1
5 positive regulation of interleukin-6 production GO:0032755 9.8 TLR4 TLR2 IL17A
6 positive regulation of tumor necrosis factor production GO:0032760 9.8 TLR4 TLR2 IL17A
7 positive regulation of interleukin-1 beta production GO:0032731 9.73 TLR4 NLRP3 IL17A
8 inflammatory response GO:0006954 9.73 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
9 inner ear development GO:0048839 9.72 MYO7A GJB6 GJB2
10 eye development GO:0001654 9.65 PAX6 FOXE3 FOXC1
11 leukocyte migration involved in inflammatory response GO:0002523 9.63 NLRP3 CCR6
12 positive regulation of interleukin-12 production GO:0032735 9.63 TLR4 TLR2 IL17A
13 I-kappaB phosphorylation GO:0007252 9.62 TLR4 TLR2
14 response to molecule of bacterial origin GO:0002237 9.61 TLR2 CXCL2
15 cellular response to lipoteichoic acid GO:0071223 9.61 TLR4 TLR2
16 cornea development in camera-type eye GO:0061303 9.6 PAX6 FOXE3
17 gap junction assembly GO:0016264 9.59 GJB6 GJB2
18 positive regulation of core promoter binding GO:1904798 9.58 PAX6 FOXC1
19 lacrimal gland development GO:0032808 9.58 PAX6 FOXC1
20 cell communication by electrical coupling GO:0010644 9.57 GJB6 GJB2
21 gap junction-mediated intercellular transport GO:1990349 9.54 GJB6 GJB2
22 intestinal epithelial structure maintenance GO:0060729 9.49 TLR4 IL17A
23 chemokine-mediated signaling pathway GO:0070098 9.46 FOXC1 CXCL2 CXCL1 CCR6
24 positive regulation of matrix metallopeptidase secretion GO:1904466 9.43 TLR4 TLR2
25 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.37 TLR4 TLR2
26 camera-type eye development GO:0043010 9.26 PITX2 PAX6 FOXE3 FOXC1
27 iris morphogenesis GO:0061072 8.8 PITX2 PAX6 FOXE3

Molecular functions related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 TLR4 TLR2 TAT PITX2 PHOX2A PAX6
2 CXCR chemokine receptor binding GO:0045236 9.26 CXCL2 CXCL1
3 lipopolysaccharide receptor activity GO:0001875 8.96 TLR4 TLR2
4 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.62 GJB6 GJB2

Sources for Keratitis, Hereditary

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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