KERH
MCID: KRT019
MIFTS: 65

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 56 52 29 6 43 39 71
Keratitis 56 12 13 54 43 15 17 71 32
Autosomal Dominant Keratitis 12 58 73 36 15
Hereditary Keratitis 12 58
Dominantly Inherited Keratitis 52
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:

56
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 56 148190
KEGG 36 H01273
ICD9CM 34 370
NCIt 49 C26805
SNOMED-CT 67 5888003
ICD10 32 H16 H16.9
MESH via Orphanet 44 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
UMLS 71 C0022568 C1835698

Summaries for Keratitis, Hereditary

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2334 Definition Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. Epidemiology The prevalence is unknown. Clinical description The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. Etiology The 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 keratitis-ichthyosis-deafness syndrome, autosomal dominant and fungal 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 Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and t cells, 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 : 56 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)

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 786)
# Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome, autosomal dominant 34.9 GJB6 GJB2
2 fungal keratitis 34.8 TLR4 TLR2
3 bacterial infectious disease 31.2 TLR4 TLR2 IL17A CXCL2 CCR6
4 candidiasis 31.2 TLR4 TLR2 IL17A CCR6
5 corneal disease 31.1 TLR4 TLR2 PAX6 NLRP3 IL17A GJB2
6 amblyopia 31.1 PAX6 KIF21A FOXE3
7 mycobacterium abscessus 31.0 TLR2 NLRP3
8 chlamydia 31.0 TLR4 TLR2 IL17A
9 eye disease 31.0 TLR4 TLR2 PAX6 MYOC MYO7A KRT13
10 granulomatosis with polyangiitis 30.8 TLR4 TLR2 IL17A CCR6
11 fungal infectious disease 30.8 TLR4 TLR2 IL17A CCR6
12 nonsyndromic hearing loss and deafness, dfna3 30.8 GJB6 GJB2
13 nonsyndromic hearing loss and deafness, dfnb1 30.8 GJB6 GJB2
14 streptococcus pneumonia 30.8 TLR4 TLR2 NLRP3 IL17A CCR6
15 contact dermatitis 30.7 TLR4 TLR2 IL17A
16 lichen planus 30.7 TLR2 KRT13 IL17A
17 arthritis 30.7 TLR4 TLR2 IL17A CXCL2 CXCL1 CCR6
18 reactive arthritis 30.6 TLR4 TLR2 IL17A CCR6
19 crohn's disease 30.6 TLR4 TLR2 NLRP3 IL17A CCR6
20 aniridia 1 30.6 PAX6 MYOC FOXE3 FOXC1 ELP4
21 proteasome-associated autoinflammatory syndrome 1 30.6 TLR4 TLR2 NLRP3 IL17A
22 neurosyphilis 30.6 TLR2 IL17A
23 rheumatoid arthritis 30.6 TLR4 TLR2 IL17A CXCL2 CXCL1 CCR6
24 skin disease 30.5 TLR2 IL17A GJB6 GJB2 CCR6
25 palmoplantar keratosis 30.5 TAT GJB6 GJB2
26 mycobacterium tuberculosis 1 30.5 TLR4 TLR2 IL17A CCR6
27 leprosy 3 30.4 TLR4 TLR2 IL17A CCR6
28 deafness, autosomal recessive 1a 30.4 MYO7A GJB6 GJB2
29 aphthous stomatitis 30.3 TLR4 TLR2 NLRP3
30 meningitis 30.3 TLR4 TLR2 NLRP3 IL17A CXCL1
31 middle ear disease 30.3 TLR4 TLR2 GJB2 CCR6
32 spondyloarthropathy 1 30.3 TLR4 IL17A CCR6
33 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.2 MYO7A GJB6 GJB2
34 osteomyelitis 30.2 TLR4 TLR2 NLRP3
35 psoriatic arthritis 30.1 TLR4 TLR2 IL17A CCR6
36 axenfeld-rieger syndrome 30.1 PAX6 MYOC FOXE3 FOXC1
37 peritonitis 30.1 TLR4 TLR2 NLRP3 IL17A CXCL2
38 pneumonia 30.1 TLR4 TLR2 IL17A CXCL2 CXCL1
39 peters-plus syndrome 30.1 PAX6 MYOC FOXE3 FOXC1
40 salmonellosis 30.1 TLR4 TLR2 NLRP3 IL17A CCR6
41 macular degeneration, age-related, 1 30.0 TLR4 TLR2 PAX6 NLRP3 MYOC MYO7A
42 inflammatory bowel disease 29.9 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
43 retinitis pigmentosa 29.9 TLR4 TLR2 PAX6 MYOC MYO7A HUWE1
44 cholangitis, primary sclerosing 29.9 TLR4 IL17A CCR6
45 gout 29.7 TLR4 TLR2 NLRP3
46 acanthamoeba keratitis 12.6
47 herpes simplex virus keratitis 12.6
48 keratitis-ichthyosis-deafness syndrome, autosomal recessive 12.6
49 interstitial keratitis 12.6
50 sclerosing keratitis 12.6

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:

56
Eyes:
hereditary childhood corneal clouding
recurrent stromal keratitis and vascularization

Misc:
propensity for early recurrence after keratoplasty

Clinical features from OMIM:

148190

UMLS symptoms related to Keratitis, Hereditary:


visual disturbance

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.53 MYOC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.53 FOXC1 FOXE3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.53 NLRP3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 MYOC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 FOXE3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.53 FOXC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.53 FOXE3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.53 FOXE3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.53 FOXE3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.53 FOXC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.53 FOXE3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.53 FOXC1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.53 MYOC
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.53 MYOC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.53 NLRP3

MGI Mouse Phenotypes related to Keratitis, Hereditary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ARHGEF1 CCR6 FOXC1 GJB2 GJB6 HUWE1
2 cardiovascular system MP:0005385 9.96 ARHGEF1 CCR6 CXCL2 FOXC1 GJB2 GJB6
3 nervous system MP:0003631 9.7 CCR6 FOXC1 GJB2 GJB6 HUWE1 KIF21A
4 normal MP:0002873 9.32 CCR6 FOXC1 GJB2 HUWE1 KIF21A MYOC

Drugs & Therapeutics for Keratitis, Hereditary

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

(show top 50) (show all 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Bisoprolol Approved Phase 4 66722-44-9 2405
4
Ranibizumab Approved Phase 4 347396-82-1 459903
5
Acyclovir Approved Phase 4 59277-89-3 2022
6
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
13
Difluprednate Approved Phase 4 23674-86-4 443936
14 Propoxycaine Approved Phase 4 86-43-1
15
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
17
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
18
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
19 Anti-Inflammatory Agents Phase 4
20 Gastrointestinal Agents Phase 4
21 Laxatives Phase 4
22 Cathartics Phase 4
23 Carboxymethylcellulose Sodium Phase 4
24 Adrenergic beta-1 Receptor Antagonists Phase 4
25 Sympatholytics Phase 4
26 Hydrocortisone 17-butyrate 21-propionate Phase 4
27 Hydrocortisone hemisuccinate Phase 4
28 Antiviral Agents Phase 4
29 Liposomal amphotericin B Phase 4
30 Methylprednisolone Acetate Phase 4
31 valacyclovir Phase 4
32 Trace Elements Phase 4
33 Micronutrients Phase 4
34 Vitamins Phase 4
35 Vitamin B Complex Phase 4
36 Dermatologic Agents Phase 4
37 Nutrients Phase 4
38 Folate Phase 4
39 Photosensitizing Agents Phase 4
40 Vitamin B2 Phase 4
41 Vitamin B9 Phase 4
42 Antibiotics, Antitubercular Phase 4
43 glucocorticoids Phase 4
44 Anesthetics Phase 4
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46 Fluoroquinolones Phase 4
47 Dextrans Phase 4
48 Proxymetacaine Phase 4
49 Anesthetics, Local Phase 4
50
Voriconazole Approved Phase 3 137234-62-9 71616

Interventional clinical trials:

(show top 50) (show all 161)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
4 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
5 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
6 The Effects of BAK on the Blood Aqueous Barrier of Pseudophakic Patients Completed NCT01280110 Phase 4 Hydroxypropylmethylcellulose;Carboxymethylcellulose
7 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
8 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
9 A Multicenter, Open-label Study to Assess the Efficacy and Safety of Acthar® Gel in Subjects With Severe Keratitis Recruiting NCT04169061 Phase 4 Acthar
10 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
11 Cross-linking for Corneal Ulcers Treatment Trial Recruiting NCT02570321 Phase 4
12 Long-term Suppressive Valacyclovir Treatment for Herpes Zoster Ophthalmicus Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
13 Steroids and Cross-linking for Ulcer Treatment Not yet recruiting NCT04097730 Phase 4 Moxifloxacin Ophthalmic;Difluprednate Ophthalmic;Riboflavin Ophthalmic
14 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Not yet recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
15 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
16 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
17 Efficacy of Repository Corticotropin Injection in Patients With Severe and Recalcitrant Keratoconjunctivitis Sicca Withdrawn NCT03398018 Phase 4 repository corticotropin injection
18 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
19 Effectiveness of Corneal Accelerated Crosslinking Versus Conventional Treatment for Infectious Keratitis Unknown status NCT02865876 Phase 3
20 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
21 Efficacy and Safety Assessment of T4020 Versus Vehicule in Patients With Chronic Neurotrophic Keratitis or Corneal Ulcer Completed NCT01794312 Phase 3
22 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
23 Mycotic Antimicrobial Localized Injection for Treatment of Corneal Ulcers Completed NCT02731638 Phase 3 Intrastromal voriconazole;Natamycin
24 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
25 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
26 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
27 Mycotic Ulcer Treatment Trial Completed NCT00996736 Phase 3 Natamycin;Voriconazole
28 The Mycotic Ulcer Treatment Trial II: A Randomized Trial Comparing Oral Voriconazole vs Placebo Completed NCT00997035 Phase 3 Voriconazole;Placebo
29 A Phase 3, Multicenter, Randomized, Double-Masked Study of Safety and Efficacy of Vismed® in Dry Eye Syndrome Completed NCT00599716 Phase 3 sodium hyaluronate;vehicle
30 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
31 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 Recruiting NCT03274895 Phase 3 PHMB 0.08%;Propamidine 0.1%;placebo;PHMB 0.02%
32 Swiss PACK-CXL (Photoactivated Chromophore for Infectious Keratitis Cross-linking) Multicenter Trial for the Treatment of Infectious Keratitis Recruiting 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)
33 Comparison of Autologous Serum 20% and Autologous Serum 50% for the Treatment of Severe Dry Eye Enrolling by invitation NCT03436576 Phase 3 Autologous Serum 20%;Autologous Serum 50%
34 A Multicenter Randomized Open-label Trial Comparing the Efficacy and Safety of Infliximab Versus Cyclophosphamide in Subjects With Idiopathic Refractory Scleritis Not yet recruiting NCT03088293 Phase 3 Infliximab;Cyclophosphamide
35 Effect of Topical Glaucoma Therapy on Tear Film Stability in Healthy Subjects Terminated NCT01746602 Phase 3 Timoptic® 0.5%;Timophtal sine® 0.5%
36 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%
37 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)
38 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
39 Collagen Cross-linking in Infectious Keratitis Trial Completed NCT01831206 Phase 2
40 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
41 Mycotic Ulcer Treatment Trial Therapeutic Exploratory Study Completed NCT00557362 Phase 1, Phase 2 Natamycin 5%;Voriconazole
42 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
43 Mucin Balls and Corneal Inflammation Events Completed NCT01437319 Phase 1, Phase 2
44 Evaluation and Treatment of Ocular Complications of Vaccinia Vaccination: Suitability of NP-016 Vaccinia Immune Globulin (VIG) for Sight-Threatening Conditions [VIG31] Completed NCT00081835 Phase 2 NP-016 Vaccine Immune Globulin (IV-VIG)
45 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
46 A Clinical Trial of Povidone-Iodine for the Treatment of Bacterial Corneal Ulcers Completed NCT00386958 Phase 2 Povidone-Iodine
47 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
48 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 Recruiting NCT02382588 Phase 2 gancyclovir gel;Hypromellose gel
49 Parasitic Ulcer Treatment Trial Pilot Recruiting NCT03484507 Phase 2 Chlorhexidine;Povidone-Iodine;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose
50 Safety and Effectiveness of the PXL Platinum 330 System for Corneal Collagen Cross-Linking With Corneal Thinning Conditions Recruiting NCT04213885 Phase 2

Search NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, T Cells, Testes, Neutrophil, Skin, Brain

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 13897)
# Title Authors PMID Year
1
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. 61 6 54 56
7668281 1995
2
Autosomal dominant keratitis: a possible aniridia variant. 6 56 61
7627897 1995
3
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. 56 61
1951425 1991
4
Dominantly inherited keratitis. 56 61
3778274 1986
5
Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. 56
4069606 1985
6
Corneal involvement in epidermolysis bullosa simplex. 56
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. 54 61
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. 61 54
19219680 2009
12
Expression of toll-like receptors in the Fusarium solani infected cornea. 54 61
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. 61 54
11309364 2001
19
PAX6 mutations reviewed. 54 61
9482572 1998
20
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 61 54
7648039 1995
21
Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. 61 54
8339559 1993
22
Antagonists and inhibitors of lipid mediators in experimental inflammation of the cornea. 54 61
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. 61 54
2275344 1990
26
The influence of a fish oil dietary supplement on immunogenic keratitis. 61 54
1696943 1990
27
Attenuation of Pseudomonas aeruginosa infection by INP0341, a salicylidene acylhydrazide, in a murine model of keratitis. 61
32507000 2020
28
Case series: Delayed diagnoses of Acanthamoeba keratitis. 61
32566802 2020
29
Single AAV-Mediated CRISPR-SaCas9 Inhibits HSV-1 Replication by Editing ICP4 in Trigeminal Ganglion Neurons. 61
32577430 2020
30
Self-retained cryopreserved amniotic membrane in treating acute ocular graft-versus-host-disease (oGVHD). 61
32529120 2020
31
Shotgun sequencing to determine corneal infection. 61
32435720 2020
32
Canine trypanosomosis in Sri Lanka: An emerging problem reported from three distinct geographic locations. 61
32339713 2020
33
Norfloxacin induces apoptosis and necroptosis in human corneal epithelial cells. 61
32320760 2020
34
Demographic, clinical features, and outcomes of pediatric non-penetrating ocular foreign bodies. 61
32296989 2020
35
Antiamoebic activity of 3-aryl-6,7-dimethoxyquinazolin-4(3H)-one library against Acanthamoeba castellanii. 61
32476058 2020
36
Techniques of noncircular corneal transplantation. 61
32412959 2020
37
Clinical Profile of Bilateral Microsporidial Keratoconjunctivitis in Healthy Individuals-A Case Series With Long-term Follow-up. 61
32141940 2020
38
Macrophomina phaseolina: an overlooked cutaneous infection, seed rot disease in humans. 61
31729754 2020
39
The Prognostic Value of Persistent Culture Positivity in Fungal Keratitis in the Mycotic Antimicrobial Localized Injection Trial. 61
32171765 2020
40
Infectious Keratitis Caused by Rare and Emerging Micro-Organisms. 61
31870176 2020
41
Development, Implementation, and Evaluation of Treatment Guidelines for Herpes Simplex Keratitis in Sydney, Australia. 61
32049680 2020
42
Emerging Dematiaceous and Hyaline Fungi Causing Keratitis in a Tertiary Care Centre From North India. 61
32398423 2020
43
Keratitis Caused by Candida parapsilosis and Subsequent Corynebacterium macginleyi Infection: Case Report and Short Review. 61
32576753 2020
44
A 5-Year Review of Acanthamoeba Keratitis Related to Wearing Contact Lenses in Korea. 61
32443003 2020
45
A retrospective study comparing DALK and PKP in the treatment of necrotizing stromal keratitis. 61
32207047 2020
46
Candida Keratitis: Epidemiology, Management, and Clinical Outcomes. 61
32265382 2020
47
An Original Use of a Bioluminescence Assay to Test the In Vitro Efficacy of Polihexanide in the Eradication of Acanthamoeba Cysts. 61
32195752 2020
48
8.5/8.6-mm Excimer Laser-Assisted Penetrating Keratoplasties in a Tertiary Corneal Subspecialty Referral Center: Indications and Outcomes in 107 Eyes. 61
32265385 2020
49
Diesel particulate matter2.5 promotes epithelial-mesenchymal transition of human retinal pigment epithelial cells via generation of reactive oxygen species. 61
32155554 2020
50
Keratocyte biology. 61
32442558 2020

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>TSNV Pathogenic 3469 rs587776571 11:31815103-31815103 11:31793555-31793555
2 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
3 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
4 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
5 PAX6 NM_019040.5(ELP4):c.*1783T>GSNV Conflicting interpretations of pathogenicity 304292 rs140971065 11:31806855-31806855 11:31785307-31785307
6 PAX6 NM_019040.5(ELP4):c.*3092T>CSNV Conflicting interpretations of pathogenicity 304308 rs371438311 11:31808164-31808164 11:31786616-31786616
7 PAX6 NM_019040.5(ELP4):c.*5123T>ASNV Conflicting interpretations of pathogenicity 304340 rs576321279 11:31810195-31810195 11:31788647-31788647
8 PAX6 NM_000280.4(PAX6):c.-316-8C>GSNV Conflicting interpretations of pathogenicity 304365 rs566281941 11:31832571-31832571 11:31811023-31811023
9 PAX6 NM_019040.5(ELP4):c.*1714C>GSNV Conflicting interpretations of pathogenicity 304291 rs180780893 11:31806786-31806786 11:31785238-31785238
10 PAX6 NM_019040.5(ELP4):c.*2982G>ASNV Conflicting interpretations of pathogenicity 878113 11:31808054-31808054 11:31786506-31786506
11 PAX6 NM_001310159.1(PAX6):c.930A>T (p.Thr310=)SNV Conflicting interpretations of pathogenicity 878639 11:31815088-31815088 11:31793540-31793540
12 PAX6 NM_001310159.1(PAX6):c.867T>C (p.Ser289=)SNV Conflicting interpretations of pathogenicity 878640 11:31815249-31815249 11:31793701-31793701
13 PAX6 NM_001310159.1(PAX6):c.275G>A (p.Arg92Gln)SNV Conflicting interpretations of pathogenicity 877705 11:31823191-31823191 11:31801643-31801643
14 PAX6 NM_000280.4(PAX6):c.711G>A (p.Val237=)SNV Conflicting interpretations of pathogenicity 304357 rs145329506 11:31815634-31815634 11:31794086-31794086
15 PAX6 NM_019040.5(ELP4):c.*2664G>ASNV Conflicting interpretations of pathogenicity 304304 rs567720234 11:31807736-31807736 11:31786188-31786188
16 PAX6 NM_019040.5(ELP4):c.*3242G>ASNV Conflicting interpretations of pathogenicity 304311 rs187705792 11:31808314-31808314 11:31786766-31786766
17 PAX6 NM_019040.5(ELP4):c.*3383C>TSNV Conflicting interpretations of pathogenicity 304312 rs541022955 11:31808455-31808455 11:31786907-31786907
18 PAX6 NM_019040.5(ELP4):c.*4806T>ASNV Conflicting interpretations of pathogenicity 304336 rs189545730 11:31809878-31809878 11:31788330-31788330
19 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Conflicting interpretations of pathogenicity 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
20 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Conflicting interpretations of pathogenicity 304324 rs3026397 11:31808976-31808976 11:31787428-31787428
21 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Conflicting interpretations of pathogenicity 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
22 PAX6 NM_000280.4(PAX6):c.-107C>TSNV Conflicting interpretations of pathogenicity 304362 rs111270711 11:31828452-31828452 11:31806904-31806904
23 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Conflicting interpretations of pathogenicity 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
24 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Conflicting interpretations of pathogenicity 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
25 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Conflicting interpretations of pathogenicity 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
26 PAX6 NM_000280.4(PAX6):c.831G>A (p.Gln277=)SNV Conflicting interpretations of pathogenicity 304356 rs149053004 11:31815285-31815285 11:31793737-31793737
27 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765
28 PAX6 NM_000280.4(PAX6):c.-430G>CSNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
29 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
30 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
31 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
32 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
33 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
34 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
35 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
36 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
37 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
38 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
39 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
40 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
41 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
42 PAX6 NM_019040.5(ELP4):c.*2282G>ASNV Uncertain significance 304298 rs886048182 11:31807354-31807354 11:31785806-31785806
43 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
44 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
45 PAX6 NM_019040.5(ELP4):c.*5357A>GSNV Uncertain significance 304343 rs886048197 11:31810429-31810429 11:31788881-31788881
46 PAX6 NM_019040.5(ELP4):c.*5471T>CSNV Uncertain significance 304344 rs886048198 11:31810543-31810543 11:31788995-31788995
47 PAX6 NM_019040.5(ELP4):c.*6054A>TSNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
48 PAX6 NM_019040.5(ELP4):c.*6075A>GSNV Uncertain significance 304351 rs766518284 11:31811147-31811147 11:31789599-31789599
49 PAX6 NM_019040.5(ELP4):c.*6203C>TSNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
50 PAX6 NM_019040.5(ELP4):c.*6227dupduplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751

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
11.96 TLR2 IL17A CXCL2 CXCL1
2 11.82 TLR4 NLRP3 CXCL2 CXCL1
3 11.63 TLR4 CXCL2 CXCL1
4
Show member pathways
11.55 TLR4 IL17A CXCL1
5
Show member pathways
11.5 TLR4 TLR2 IL17A
6 11.47 TLR4 TLR2 CXCL2 CXCL1
7 11.01 TLR4 TLR2 CXCL2 CXCL1
8 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 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to lipopolysaccharide GO:0071222 9.8 TLR4 NLRP3 CXCL2 CXCL1
2 immune response GO:0006955 9.8 TLR4 TLR2 IL17A CXCL2 CXCL1 CCR6
3 response to lipopolysaccharide GO:0032496 9.76 TLR4 TLR2 GJB6 GJB2
4 camera-type eye development GO:0043010 9.73 PAX6 FOXE3 FOXC1
5 inner ear development GO:0048839 9.69 MYO7A GJB6 GJB2
6 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.62 TLR4 TLR2
7 I-kappaB phosphorylation GO:0007252 9.61 TLR4 TLR2
8 response to molecule of bacterial origin GO:0002237 9.61 TLR2 CXCL2
9 eye development GO:0001654 9.61 PAX6 FOXE3 FOXC1
10 cellular response to lipoteichoic acid GO:0071223 9.6 TLR4 TLR2
11 cornea development in camera-type eye GO:0061303 9.59 PAX6 FOXE3
12 iris morphogenesis GO:0061072 9.58 PAX6 FOXE3
13 positive regulation of interleukin-12 biosynthetic process GO:0045084 9.58 TLR4 IL17A
14 positive regulation of interleukin-6 secretion GO:2000778 9.58 TLR4 TLR2 IL17A
15 gap junction assembly GO:0016264 9.57 GJB6 GJB2
16 positive regulation of core promoter binding GO:1904798 9.55 PAX6 FOXC1
17 lacrimal gland development GO:0032808 9.54 PAX6 FOXC1
18 cell communication by electrical coupling GO:0010644 9.52 GJB6 GJB2
19 gap junction-mediated intercellular transport GO:1990349 9.48 GJB6 GJB2
20 inflammatory response GO:0006954 9.43 TLR4 TLR2 NLRP3 IL17A CXCL2 CXCL1
21 cytokine secretion involved in immune response GO:0002374 9.37 TLR2 NLRP3
22 positive regulation of matrix metallopeptidase secretion GO:1904466 9.26 TLR4 TLR2
23 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.16 TLR4 TLR2
24 chemokine-mediated signaling pathway GO:0070098 8.92 FOXC1 CXCL2 CXCL1 CCR6

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

# Name GO ID Score Top Affiliating Genes
1 CXCR chemokine receptor binding GO:0045236 9.16 CXCL2 CXCL1
2 lipopolysaccharide receptor activity GO:0001875 8.96 TLR4 TLR2
3 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
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
Content
Loading form....