KERH
MCID: KRT019
MIFTS: 67

Keratitis, Hereditary (KERH)

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

Aliases & Classifications for Keratitis, Hereditary

MalaCards integrated aliases for Keratitis, Hereditary:

Name: Keratitis, Hereditary 57 53 29 6 40 73
Keratitis 57 12 29 13 55 44 15 73
Autosomal Dominant Keratitis 59 75 37
Dominantly Inherited Keratitis 53
Keratitis, Autosomal Dominant 6
Hereditary Keratitis 59
Keratitis Hereditary 75
Kerh 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant keratitis
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keratitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 148190
Disease Ontology 12 DOID:4677
ICD10 33 H16 H16.9
ICD9CM 35 370 370.9
MeSH 44 D007634
NCIt 50 C26805
SNOMED-CT 68 5888003
Orphanet 59 ORPHA2334
ICD10 via Orphanet 34 H16.8
MESH via Orphanet 45 C537022
UMLS via Orphanet 74 C1835698
MedGen 42 C1835698
KEGG 37 H01273
SNOMED-CT via HPO 69 263681008 246957002

Summaries for Keratitis, Hereditary

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2334Disease definitionHereditary 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 kid syndrome, 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 Innate Immune System and Akt Signaling. Affiliated tissues include eye, lung 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)

CDC : 3 Acanthamoeba is a microscopic, free-living ameba, or amoeba* (single-celled living organism), that can cause rare**, but severe infections of the eye, skin, and central nervous system. The ameba is found worldwide in the environment in water and soil. The ameba can be spread to the eyes through contact lens use, cuts, or skin wounds or by being inhaled into the lungs. Most people will be exposed to Acanthamoeba during their lifetime, but very few will become sick from this exposure. The three diseases caused by Acanthamoeba are:

UniProtKB/Swiss-Prot : 75 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Wikipedia : 76 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 427)
# Related Disease Score Top Affiliating Genes
1 fungal keratitis 33.8 MMP9 TLR2 TLR4
2 kid syndrome 33.4 GJB2 GJB6
3 corneal disease 30.2 GJB2 GJB6 TLR9 VEGFA
4 arthritis 30.2 IL17A IL1B MIF MMP9
5 rosacea 30.0 MMP9 TLR2 VEGFA
6 chlamydia 29.8 IL1B TLR2 TLR4
7 dermatitis, atopic 29.7 IL17A TLR2 TLR4 TLR9
8 genital herpes 29.6 ACKR1 TLR2 TLR9
9 toxic shock syndrome 29.6 IL1B TLR2 TLR4
10 leishmaniasis 29.6 TLR9 TLR4 TLR2 IL1B IL17A
11 mycobacterium tuberculosis 1 29.6 IL17A TLR2 TLR4 TLR9
12 lyme disease 29.6 TLR2 MMP9 IL1B IL17A
13 rheumatoid arthritis 29.2 VEGFA TLR4 TLR2 MMP9 MIF IL1B
14 meningitis 28.9 TLR9 TLR2 MMP9 IL1B CXCL1
15 pneumonia 28.7 TLR9 TLR4 TLR2 IL1B CXCL2 CXCL1
16 malaria 28.7 VEGFA TLR9 TLR4 TLR2 MMP9 MIF
17 inflammatory bowel disease 28.7 CXCL1 IL17A IL1B MIF TLR2 TLR4
18 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.6
19 acanthamoeba keratitis 12.5
20 herpes simplex virus keratitis 12.4
21 interstitial keratitis 12.4
22 stromal keratitis 12.3
23 deep keratitis 12.3
24 superficial keratitis 12.2
25 filamentary keratitis 12.2
26 exposure keratitis 12.2
27 sclerosing keratitis 12.2
28 macular keratitis 12.1
29 diffuse interstitial keratitis 12.1
30 gonococcal keratitis 12.1
31 idiopathic linear interstitial keratitis 12.1
32 vernal keratitis 12.1
33 infectious epithelial keratitis 12.1
34 neurotrophic keratopathy 12.0
35 cogan syndrome 11.9
36 punctate epithelial keratoconjunctivitis 11.7
37 keratoendotheliitis fugax hereditaria 11.6
38 dermatoosteolysis, kirghizian type 11.6
39 keratoconjunctivitis sicca 11.5
40 keratomalacia 11.4
41 severe cutaneous adverse reaction 11.3
42 keratosis 11.3
43 diarrhea 5, with tufting enteropathy, congenital 11.3
44 ichthyosis follicularis atrichia photophobia syndrome 11.3
45 tyrosinemia, type ii 11.1
46 ichthyosiform erythroderma, corneal involvement, and deafness 11.1
47 ichthyosis, hystrix-like, with deafness 11.0
48 philophthalmiasis 11.0
49 late congenital syphilis 11.0
50 acute hemorrhagic conjunctivitis 11.0

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



Diseases related to Keratitis, Hereditary

Symptoms & Phenotypes for Keratitis, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hereditary childhood corneal clouding
recurrent stromal keratitis and vascularization

Misc:
propensity for early recurrence after keratoplasty


Clinical features from OMIM:

148190

Human phenotypes related to Keratitis, Hereditary:

32
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 32 HP:0007759
2 keratitis 32 HP:0000491

UMLS symptoms related to Keratitis, Hereditary:


visual disturbance

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.02 CXCL1 CXCL2 GDI1 GJB2 VEGFA

MGI Mouse Phenotypes related to Keratitis, Hereditary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ACKR1 FGF2 GDI1 GJB2 GJB6 IL17A
2 cardiovascular system MP:0005385 10.18 CXCL2 FGF2 GJB2 GJB6 IL1B MMP9
3 immune system MP:0005387 10.15 ACKR1 GJB2 GJB6 IL17A IL1B MIF
4 digestive/alimentary MP:0005381 10 IL17A MMP9 PAX6 TLR2 TLR4 TLR9
5 integument MP:0010771 9.92 GJB2 GJB6 IL1B MMP9 PAX6 TLR2
6 hearing/vestibular/ear MP:0005377 9.91 FGF2 GJB2 GJB6 MIF PAX6 TLR4
7 nervous system MP:0003631 9.9 FGF2 GDI1 GJB2 GJB6 IL1B MIF
8 neoplasm MP:0002006 9.86 FGF2 IL1B MIF MMP9 PAX6 TLR2
9 renal/urinary system MP:0005367 9.5 IL17A MMP9 PAX6 TLR2 TLR4 TLR9
10 skeleton MP:0005390 9.32 ACKR1 FGF2 GJB2 IL17A IL1B MMP9

Drugs & Therapeutics for Keratitis, Hereditary

Search Clinical Trials , NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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
2 Keratitis 29

Anatomical Context for Keratitis, Hereditary

MalaCards organs/tissues related to Keratitis, Hereditary:

41
Eye, Lung, Skin, Endothelial, T Cells, Brain, Bone

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 683)
# Title Authors Year
1
Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome. ( 30371567 )
2019
2
Concurrent Microbial Keratitis and Nasolacrimal Duct Obstruction: Concordance, Etiopathogenesis, and Outcome. ( 30325843 )
2019
3
Dual-functional gelatin-capped silver nanoparticles for antibacterial and antiangiogenic treatment of bacterial keratitis. ( 30366177 )
2019
4
Acanthamoeba keratitis: current status and urgent research priorities. ( 29745319 )
2018
5
Effect of ethanol pretreatment in Acanthamoeba keratitis: a long-term follow-up study. ( 30013376 )
2018
6
Prevention of Acanthamoeba keratitis in contact lens wearers: is the message getting through? ( 30133903 )
2018
7
Comparison of anterior segment optical coherence tomography findings in acanthamoeba keratitis and herpetic epithelial keratitis. ( 30140650 )
2018
8
Acanthamoeba keratitis: confirmation of the UK outbreak and a prospective case-control study identifying contributing risk factors. ( 30232172 )
2018
9
Herpes simplex virus keratitis mimicking Acanthamoeba keratitis: a clinicopathological correlation. ( 30232207 )
2018
10
The first Acanthamoeba keratitis case in the Midwest region of Brazil: diagnosis, genotyping of the parasite and disease outcome. ( 30304286 )
2018
11
Corneal "Plaque" formation after anti-acanthamoeba therapy in acanthamoeba keratitis. ( 30355882 )
2018
12
Drug targeting in Acanthamoeba keratitis: rational of using drugs that are already approved for ocular use in non-keratitis indications. ( 30356128 )
2018
13
Acanthamoeba keratitis in Mexico: Report of a clinical case and importance of sensitivity assays for a better outcome. ( 30472333 )
2018
14
Torn from the headlines: role of public awareness and bench- to-bedside research in prevention and treatment of Acanthamoeba keratitis. ( 30552420 )
2018
15
Dual 0.02% chlorhexidine digluconate - 0.1% disodium EDTA loaded thermosensitive ocular gel for Acanthamoeba keratitis treatment. ( 30553004 )
2018
16
Total necrosis of cornea, iris and crystalline lens with exposure of vitreous hyaloid face in the context of recalcitrant acanthamoeba keratitis. ( 30555975 )
2018
17
Bilateral Candida keratitis in an HIV patient with asymptomatic genitourinary candidiasis in Uganda. ( 30094132 )
2018
18
Epithelial Keratitis After Cataract Surgery. ( 29595763 )
2018
19
Scleritis, keratitis, and orbital cellulitis: isolated ocular manifestation of systemic lupus erythematosus. ( 30092731 )
2018
20
Chemical conjunctivitis and diffuse lamellar keratitis after removal of eyelash extensions. ( 30128373 )
2018
21
Periocular contact dermatitis with use of topical voriconazole 1% in mycotic keratitis. ( 30219785 )
2018
22
Comparison of chlorhexidine disinfectant in vitro effect on environmental and ocular Acanthamoeba strains, the amoebic agents of human keratitis − an emerging sight-threatening corneal disease in Poland ( 30316219 )
2018
23
Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia. ( 30063663 )
2018
24
Microbial keratitis-induced endophthalmitis: incidence, symptoms, therapy, visual prognosis and outcomes. ( 29724209 )
2018
25
RISK FACTORS, TREATMENT STRATEGIES, AND OUTCOMES OF ENDOPHTHALMITIS ASSOCIATED WITH SEVERE FUNGAL KERATITIS. ( 29474308 )
2018
26
Fungal keratitis and endophthalmitis after implantation of type 1 keratoprosthesis. ( 29563700 )
2018
27
Case Report: Post-keratoplasty Filamentary Keratitis Managed with Scleral Lens. ( 30063659 )
2018
28
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. ( 29995760 )
2018
29
Corneal Cross-Linking Has No Effect on Matrix Metalloproteinase 9 and 13 Levels During Fungal Keratitis on the Early Stage. ( 29043533 )
2018
30
A novel, tomographic imaging probe for rapid diagnosis of fungal keratitis. ( 29228372 )
2018
31
Application of image recognition-based automatic hyphae detection in fungal keratitis. ( 29285615 )
2018
32
Ophthalmic Econazole Hydrogels for the Treatment of Fungal Keratitis. ( 29305870 )
2018
33
Metagenomic analysis for detecting Fusarium solani in a case of fungal keratitis. ( 29371064 )
2018
34
Comment on: Fungal keratitis: The Aravind Experience. ( 29380807 )
2018
35
Reply to Comment on: Fungal keratitis: The Aravind Experience. ( 29380808 )
2018
36
Microplasma Jet Arrays as a Therapeutic Choice for Fungal Keratitis. ( 29403058 )
2018
37
Ocular surface squamous neoplasia in a setting of fungal keratitis: a rare co-occurrence. ( 29423784 )
2018
38
The Significance of Repeat Cultures in the Treatment of Severe Fungal Keratitis. ( 29438654 )
2018
39
Full-thickness conjunctival flap covering surgery combined with amniotic membrane transplantation for severe fungal keratitis. ( 29456673 )
2018
40
Recognition of Fungal Keratitis in Boston Type I Keratoprosthesis: Importance of Awareness and Novel Identification of Exophiala phaeomuriformis. ( 29474297 )
2018
41
Clinically Significant Enhancement of Voriconazole Efficacy by Moxifloxacin and Gentamicin in Fungal Keratitis. ( 29489515 )
2018
42
Antimicrobial efficacy of corneal cross-linking in vitro and in vivo for Fusarium solani: a potential new treatment for fungal keratitis. ( 29499665 )
2018
43
Tacrolimus interacts with voriconazole to reduce the severity of fungal keratitis by suppressing IFN-related inflammatory responses and concomitant FK506 and voriconazole treatment suppresses fungal keratitis. ( 29527115 )
2018
44
Identification and Characterization of Fusarium proliferatum, a New Species of Fungi that Cause Fungal Keratitis. ( 29559666 )
2018
45
Two cases of fungal keratitis caused by Metarhizium anisopliae. ( 29560304 )
2018
46
Fungal keratitis caused by rare organisms. ( 29564417 )
2018
47
Corneal Debridement Combined with Intrastromal Voriconazole for Recalcitrant Fungal Keratitis. ( 29670766 )
2018
48
Expression of cytokines in aqueous humor from fungal keratitis patients. ( 29673332 )
2018
49
Mincle in the innate immune response of mice fungal keratitis. ( 29675368 )
2018
50
Ocular surface squamous neoplasia in a setting of fungal keratitis: a rare co-occurrence. ( 29691697 )
2018

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6 (show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.917-2A> T single nucleotide variant Pathogenic rs587776571 GRCh38 Chromosome 11, 31793555: 31793555
2 PAX6 NM_000280.4(PAX6): c.917-2A> T single nucleotide variant Pathogenic rs587776571 GRCh37 Chromosome 11, 31815103: 31815103
3 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
4 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
5 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
6 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
7 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
8 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
9 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
10 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
11 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
12 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
13 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
14 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh38 Chromosome 11, 31785931: 31785931
15 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
16 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
17 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
18 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
19 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
20 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
21 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
22 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
23 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
24 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540
25 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh37 Chromosome 11, 31810195: 31810195
26 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh38 Chromosome 11, 31788647: 31788647
27 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh37 Chromosome 11, 31810298: 31810298
28 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh38 Chromosome 11, 31788750: 31788750
29 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh37 Chromosome 11, 31810419: 31810419
30 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh38 Chromosome 11, 31788871: 31788871
31 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh37 Chromosome 11, 31823139: 31823139
32 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh38 Chromosome 11, 31801591: 31801591
33 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh37 Chromosome 11, 31823332: 31823332
34 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh38 Chromosome 11, 31801784: 31801784
35 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh37 Chromosome 11, 31832571: 31832571
36 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh38 Chromosome 11, 31811023: 31811023
37 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh37 Chromosome 11, 31806374: 31806374
38 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh38 Chromosome 11, 31784826: 31784826
39 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh37 Chromosome 11, 31806561: 31806563
40 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh38 Chromosome 11, 31785013: 31785015
41 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh37 Chromosome 11, 31806786: 31806786
42 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh38 Chromosome 11, 31785238: 31785238
43 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh37 Chromosome 11, 31806883: 31806883
44 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh38 Chromosome 11, 31785335: 31785335
45 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh37 Chromosome 11, 31807121: 31807121
46 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh38 Chromosome 11, 31785573: 31785573
47 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh37 Chromosome 11, 31807524: 31807524
48 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh38 Chromosome 11, 31785976: 31785976
49 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh37 Chromosome 11, 31807574: 31807574
50 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh38 Chromosome 11, 31786026: 31786026

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:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2
Show member pathways
13.36 CXCL1 CXCL2 FGF2 IL17A IL1B TLR2
3
Show member pathways
13.31 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
4
Show member pathways
12.97 CXCL1 CXCL2 IL1B TLR2 TLR4 TLR9
5
Show member pathways
12.92 CXCL1 CXCL2 FGF2 IL1B MMP9 TLR2
6
Show member pathways
12.66 FGF2 IL1B TLR2 TLR4 TLR9
7
Show member pathways
12.58 IL1B TLR2 TLR4 TLR9 VEGFA
8
Show member pathways
12.36 TLR2 TLR4 TLR9 VEGFA
9
Show member pathways
12.27 FGF2 IL1B MIF TLR4
10 12.24 FGF2 MMP9 TLR2 TLR4 VEGFA
11 12.19 IL1B TLR2 TLR4 TLR9
12
Show member pathways
12.18 CXCL1 CXCL2 IL17A IL1B MMP9 TLR2
13
Show member pathways
12.14 IL1B TLR2 TLR4 TLR9
14
Show member pathways
12.12 CXCL1 CXCL2 IL1B MMP9 TLR2 TLR4
15 12.11 MMP9 TLR2 TLR4 TLR9 VEGFA
16
Show member pathways
12.01 IL1B MMP9 TLR2 TLR4
17
Show member pathways
11.99 IL1B TLR2 TLR4 TLR9
18
Show member pathways
11.97 IL17A IL1B TLR2 TLR4 TLR9
19 11.93 CXCL1 CXCL2 IL1B MMP9
20 11.86 FGF2 IL17A IL1B MMP9 VEGFA
21 11.84 CXCL2 IL1B TLR4
22 11.84 CXCL1 IL1B TLR2 TLR4
23
Show member pathways
11.83 CXCL1 IL17A TLR4
24 11.78 TLR2 TLR4 TLR9
25 11.78 CXCL1 CXCL2 IL1B TLR4
26 11.74 FGF2 PAX6 VEGFA
27 11.68 CXCL1 IL17A IL1B MMP9
28 11.64 FGF2 MMP9 VEGFA
29 11.61 CXCL2 FGF2 IL1B MMP9
30
Show member pathways
11.52 CXCL2 IL1B MIF MMP9 VEGFA
31 11.51 CXCL1 CXCL2 IL1B MIF MMP9 TLR4
32 11.49 CXCL1 CXCL2 IL1B
33 11.48 IL1B TLR2 TLR4
34 11.4 CXCL1 CXCL2 IL1B TLR2 TLR4
35 11.24 ACKR1 IL1B TLR2 TLR4 TLR9
36 11.23 CXCL1 CXCL2 IL1B
37 11.17 CXCL1 CXCL2 IL17A IL1B
38 11.15 IL1B MMP9 TLR2
39 11.12 FGF2 MMP9 VEGFA
40 11.05 CXCL1 IL17A IL1B TLR2 TLR4 VEGFA
41 10.98 CXCL1 CXCL2 FGF2 IL17A IL1B
42 10.75 MIF TLR4

GO Terms for Keratitis, Hereditary

Cellular components related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2 extracellular region GO:0005576 9.28 CXCL1 CXCL2 FGF2 IL17A IL1B MIF

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.99 FGF2 IL1B MIF TLR4
2 positive regulation of protein phosphorylation GO:0001934 9.96 IL1B MIF MMP9 VEGFA
3 cellular response to lipopolysaccharide GO:0071222 9.94 CXCL1 CXCL2 IL1B TLR4
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.92 IL1B TLR2 TLR4 TLR9
5 response to lipopolysaccharide GO:0032496 9.91 GJB2 GJB6 IL1B TLR2 TLR4
6 neutrophil chemotaxis GO:0030593 9.87 CXCL1 CXCL2 IL1B
7 positive regulation of JNK cascade GO:0046330 9.87 IL1B TLR4 TLR9
8 immune response GO:0006955 9.87 CXCL1 CXCL2 IL17A IL1B TLR2 TLR4
9 positive regulation of inflammatory response GO:0050729 9.86 TLR2 TLR4 TLR9
10 chemokine-mediated signaling pathway GO:0070098 9.85 ACKR1 CXCL1 CXCL2
11 positive regulation of MAP kinase activity GO:0043406 9.83 FGF2 MIF VEGFA
12 positive chemotaxis GO:0050918 9.81 FGF2 MIF VEGFA
13 positive regulation of cell division GO:0051781 9.81 FGF2 IL1B VEGFA
14 regulation of signaling receptor activity GO:0010469 9.8 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
15 positive regulation of B cell proliferation GO:0030890 9.79 MIF TLR4 TLR9
16 toll-like receptor signaling pathway GO:0002224 9.79 TLR2 TLR4 TLR9
17 lipopolysaccharide-mediated signaling pathway GO:0031663 9.78 IL1B TLR2 TLR4
18 positive regulation of interleukin-6 production GO:0032755 9.78 IL1B TLR2 TLR4 TLR9
19 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.77 TLR2 TLR4 TLR9
20 positive regulation of interferon-beta production GO:0032728 9.77 TLR2 TLR4 TLR9
21 positive regulation of interleukin-12 production GO:0032735 9.75 TLR2 TLR4 TLR9
22 positive regulation of interleukin-10 production GO:0032733 9.74 TLR2 TLR4 TLR9
23 positive regulation of chemokine production GO:0032722 9.71 TLR2 TLR4 TLR9
24 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.71 IL1B TLR2 TLR4 TLR9
25 macrophage differentiation GO:0030225 9.7 MMP9 VEGFA
26 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.7 IL17A TLR4
27 negative regulation of neural precursor cell proliferation GO:2000178 9.7 IL1B PAX6
28 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.7 TLR2 TLR4 TLR9
29 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.69 IL1B TLR9
30 cellular response to lipoteichoic acid GO:0071223 9.68 TLR2 TLR4
31 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.67 TLR4 TLR9
32 positive regulation of interferon-beta biosynthetic process GO:0045359 9.67 TLR4 TLR9
33 regulation of cytokine secretion GO:0050707 9.67 TLR2 TLR4 TLR9
34 positive regulation of tumor necrosis factor production GO:0032760 9.67 MIF TLR2 TLR4 TLR9
35 positive regulation of interleukin-18 production GO:0032741 9.65 TLR2 TLR9
36 tumor necrosis factor production GO:0032640 9.65 TLR2 TLR9
37 positive regulation of toll-like receptor signaling pathway GO:0034123 9.63 TLR2 TLR9
38 I-kappaB phosphorylation GO:0007252 9.63 TLR2 TLR4 TLR9
39 response to molecule of bacterial origin GO:0002237 9.61 CXCL2 TLR2 TLR9
40 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.58 TLR2 TLR4
41 cytokine-mediated signaling pathway GO:0019221 9.5 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
42 positive regulation of interleukin-8 production GO:0032757 9.46 IL1B TLR2 TLR4 TLR9
43 inflammatory response GO:0006954 9.28 ACKR1 CXCL1 CXCL2 IL17A IL1B MIF
44 signal transduction GO:0007165 10.28 ACKR1 CXCL1 FGF2 GDI1 IL1B TLR2
45 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 FGF2 IL17A IL1B PAX6 TLR2 TLR4
46 negative regulation of cell proliferation GO:0008285 10.06 CXCL1 GJB6 IL1B PAX6 TLR2
47 positive regulation of gene expression GO:0010628 10.02 IL1B PAX6 TLR2 TLR4 TLR9 VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.32 IL1B TLR9
2 signaling pattern recognition receptor activity GO:0008329 9.26 TLR2 TLR9
3 cytokine activity GO:0005125 9.17 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
4 lipopolysaccharide receptor activity GO:0001875 9.16 TLR2 TLR4
5 chemoattractant activity GO:0042056 9.13 FGF2 MIF VEGFA

Sources for Keratitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....