KERH
MCID: KRT019
MIFTS: 61

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 58 54 30 6 41 74
Keratitis 58 12 13 56 45 15 17 74
Autosomal Dominant Keratitis 60 76 38
Dominantly Inherited Keratitis 54
Keratitis, Autosomal Dominant 6
Hereditary Keratitis 60
Keratitis Hereditary 76
Kerh 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant keratitis
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
keratitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:4677
OMIM 58 148190
KEGG 38 H01273
ICD9CM 36 370 370.9
MeSH 45 D007634
NCIt 51 C26805
SNOMED-CT 69 5888003
ICD10 34 H16 H16.9
MESH via Orphanet 46 C537022
ICD10 via Orphanet 35 H16.8
UMLS via Orphanet 75 C1835698
Orphanet 60 ORPHA2334
MedGen 43 C1835698
SNOMED-CT via HPO 70 246957002 263681008

Summaries for Keratitis, Hereditary

NIH Rare Diseases : 54 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 rosacea, 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, 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 : 58 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 : 76 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Wikipedia : 77 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 442)
# Related Disease Score Top Affiliating Genes
1 fungal keratitis 34.1 MMP9 TLR2 TLR4
2 rosacea 30.6 MMP9 TLR2 VEGFA
3 arthritis 30.4 IL17A IL1B MIF MMP9
4 chlamydia 29.9 IL1B TLR2 TLR4
5 bacterial infectious disease 29.8 IL17A IL1B TLR2 TLR4
6 leishmaniasis 29.8 IL1B TLR2 TLR4
7 lyme disease 29.8 IL17A IL1B MMP9 TLR2
8 inflammatory bowel disease 29.8 IL17A IL1B TLR2 TLR4
9 mycobacterium tuberculosis 1 29.7 IL17A TLR2 TLR4
10 toxic shock syndrome 29.7 IL1B TLR2 TLR4
11 rheumatoid arthritis 29.0 CXCL1 IL17A IL1B MIF MMP9 TLR2
12 meningitis 29.0 CXCL1 IL1B MMP9 TLR2
13 pneumonia 28.6 CXCL1 CXCL2 IL1B TLR2 TLR4
14 malaria 28.4 ACKR1 IL17A IL1B MIF MMP9 PECAM1
15 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.6
16 acanthamoeba keratitis 12.5
17 herpes simplex virus keratitis 12.5
18 interstitial keratitis 12.5
19 stromal keratitis 12.3
20 deep keratitis 12.3
21 superficial keratitis 12.2
22 filamentary keratitis 12.2
23 exposure keratitis 12.2
24 sclerosing keratitis 12.2
25 macular keratitis 12.2
26 diffuse interstitial keratitis 12.2
27 gonococcal keratitis 12.2
28 idiopathic linear interstitial keratitis 12.1
29 vernal keratitis 12.1
30 infectious epithelial keratitis 12.1
31 kid syndrome 12.1
32 neurotrophic keratopathy 12.1
33 cogan syndrome 12.0
34 dermatoosteolysis, kirghizian type 11.8
35 punctate epithelial keratoconjunctivitis 11.7
36 keratoendotheliitis fugax hereditaria 11.6
37 keratoconjunctivitis sicca 11.5
38 keratomalacia 11.5
39 severe cutaneous adverse reaction 11.4
40 ichthyosis, hystrix-like, with deafness 11.3
41 diarrhea 5, with tufting enteropathy, congenital 11.3
42 acute hemorrhagic conjunctivitis 11.3
43 ichthyosis follicularis atrichia photophobia syndrome 11.3
44 tyrosinemia, type ii 11.2
45 ichthyosiform erythroderma, corneal involvement, and deafness 11.1
46 philophthalmiasis 11.0
47 late congenital syphilis 11.0
48 photokeratitis 11.0
49 phaeohyphomycosis 11.0
50 keratosis follicularis spinulosa decalvans 11.0

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:

33
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 33 HP:0007759
2 keratitis 33 HP:0000491

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACKR1 FAM20C FGF2 GDI1 GJB2 IL17A
2 cardiovascular system MP:0005385 10.21 CXCL2 FGF2 GJB2 IL1B MMP9 PAX6
3 immune system MP:0005387 10.18 ACKR1 FAM20C GJB2 IL17A IL1B MIF
4 hematopoietic system MP:0005397 10.16 FAM20C FGF2 IL17A IL1B MIF MMP9
5 digestive/alimentary MP:0005381 10.1 FAM20C IL17A MMP9 PAX6 PECAM1 TLR2
6 nervous system MP:0003631 10 FAM20C FGF2 GDI1 GJB2 IL1B MIF
7 hearing/vestibular/ear MP:0005377 9.95 FAM20C FGF2 GJB2 MIF PAX6 TLR4
8 neoplasm MP:0002006 9.92 FGF2 IL1B MIF MMP9 PAX6 TLR2
9 muscle MP:0005369 9.91 FGF2 MMP9 PAX6 PECAM1 TLR2 TLR4
10 renal/urinary system MP:0005367 9.76 FAM20C IL17A MMP9 PAX6 PECAM1 TLR2
11 respiratory system MP:0005388 9.5 IL17A MMP9 PAX6 PECAM1 TLR2 TLR4
12 skeleton MP:0005390 9.4 ACKR1 FAM20C FGF2 GJB2 IL17A IL1B

Drugs & Therapeutics for Keratitis, Hereditary

Search Clinical Trials , NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: keratitis

Genetic Tests for Keratitis, Hereditary

Genetic tests related to Keratitis, Hereditary:

# Genetic test Affiliating Genes
1 Keratitis, Hereditary 30 PAX6

Anatomical Context for Keratitis, Hereditary

MalaCards organs/tissues related to Keratitis, Hereditary:

42
Eye, Endothelial, Skin, Lung, Neutrophil, T Cells, Testes

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 2999)
# Title Authors Year
1
An L-fucose specific lectin from Aspergillus niger isolated from mycotic keratitis patient and its interaction with human pancreatic adenocarcinoma PANC-1 cells. ( 31051203 )
2019
2
Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome. ( 29594793 )
2019
3
A novel herpesvirus associated with chronic superficial keratitis and proliferative conjunctivitis in a great horned owl (Bubo virginianus). ( 29656541 )
2019
4
Endophthalmitis associated with fungal keratitis and penetrating injuries in North China. ( 30832500 )
2019
5
Bacteroides Spp. Blebitis, Keratitis, and Endophthalmitis Following Uncomplicated Trabeculectomy. ( 30855413 )
2019
6
The role of autophagy in the pathogenesis of exposure keratitis. ( 30973208 )
2019
7
Oral guaifenesin for treatment of filamentary keratitis: A pilot study. ( 30946892 )
2019
8
Multi-locus DNA sequence analysis, antifungal agent susceptibility, and fungal keratitis outcome in horses from Southeastern United States. ( 30921394 )
2019
9
Fungal Keratitis Caused by Colletotrichum dematium: Case Study and Review. ( 30949880 )
2019
10
Rapamycin liposome gutta inhibiting fungal keratitis of rats. ( 31024803 )
2019
11
Natamycin solid lipid nanoparticles - sustained ocular delivery system of higher corneal penetration against deep fungal keratitis: preparation and optimization. ( 31040672 )
2019
12
Comparison of corneal collagen cross-linking (PACK-CXL) and voriconazole treatments in experimental fungal keratitis. ( 29862655 )
2019
13
Identification and biofilm development by a new fungal keratitis aetiologic agent. ( 30187586 )
2019
14
Management Algorithm for Fungal Keratitis: The TST (Topical, Systemic, and Targeted Therapy) Protocol. ( 30334872 )
2019
15
Correlation between pathogenic species and clinical findings, disease severity, and visual outcome in patients with fungal keratitis. ( 30403261 )
2019
16
Efficacy of Luliconazole Against Broad-Range Filamentous Fungi Including Fusarium solani Species Complex Causing Fungal Keratitis. ( 30422866 )
2019
17
Bacterial and Fungal Keratitis: A Retrospective Analysis at a University Hospital in Switzerland. ( 30616287 )
2019
18
IL-17 produced by Th17 cells alleviates the severity of fungal keratitis by suppressing CX43 expression in corneal peripheral vascular endothelial cells. ( 30661459 )
2019
19
Correction: Alterations in the gut bacterial microbiome in fungal Keratitis patients. ( 30699192 )
2019
20
The Acanthamoeba-Fungal Keratitis Study. ( 30721687 )
2019
21
Fungal Keratitis: Epidemiology, Rapid Detection, and Antifungal Susceptibilities of Fusarium and Aspergillus Isolates from Corneal Scrapings. ( 30800674 )
2019
22
Conjunctival microbiome changes associated with fungal keratitis: metagenomic analysis. ( 30809472 )
2019
23
Novel Use of Fluorescence In Situ Hybridization for the Rapid Identification of Microorganisms in Endophthalmitis and Keratitis. ( 31100176 )
2019
24
Notes from the Field: Acanthamoeba Keratitis Cases - Iowa, 2002-2017. ( 31095535 )
2019
25
Clinical features and outcomes of Acanthamoeba keratitis in a tertiary hospital over 20- year period. ( 31076316 )
2019
26
Analysis from a year of increased cases of Acanthamoeba Keratitis in a large teaching hospital in the UK. ( 31018907 )
2019
27
Acanthamoeba keratitis - Clinical signs, differential diagnosis and treatment. ( 30899841 )
2019
28
Clinical course of Acanthamoeba keratitis by genotypes T4 and T8 in Hungary. ( 30835133 )
2019
29
Accelerated collagen cross-linking in the management of advanced Acanthamoeba keratitis. ( 30726402 )
2019
30
Genotypic diversity of Acanthamoeba strains isolated from Chilean patients with Acanthamoeba keratitis. ( 30683157 )
2019
31
Reduction of Acanthamoeba Cyst Density Associated With Treatment Detected by In Vivo Confocal Microscopy in Acanthamoeba Keratitis. ( 30640249 )
2019
32
Efficacy of Topical Miltefosine in Patients with Acanthamoeba Keratitis: A Pilot Study. ( 30572075 )
2019
33
Drug targeting in Acanthamoeba keratitis: rational of using drugs that are already approved for ocular use in non-keratitis indications. ( 30356128 )
2019
34
Fungal keratitis caused by Didymella gardeniae (formerly Phoma gardeniae) successfully treated with topical voriconazole and miconazole. ( 31080716 )
2019
35
Thermosensitive hydrogel containing sertaconazole loaded nanostructured lipid carriers for potential treatment of fungal keratitis. ( 31062987 )
2019
36
Evaluation of corneal cross-linking as adjuvant therapy for the management of fungal keratitis. ( 31041523 )
2019
37
Ocular surface squamous neoplasia in a setting of fungal keratitis: a rare co-occurrence. ( 29423784 )
2019
38
Epidemiology of fungal keratitis in Queensland, Australia. ( 29931733 )
2019
39
Bilateral Herpes Simplex Virus-related Peripheral Ulcerative Keratitis Leading to Corneal Perforation in a Patient with Primary Herpes Simplex Virus Infection. ( 30820293 )
2019
40
Macrodendrite in a Patient With Herpes Simplex Virus Keratitis. ( 30763420 )
2019
41
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. ( 30287322 )
2019
42
Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome. ( 30371567 )
2019
43
A novel homozygous mutation of GJB2-A new variant of keratitis-ichthyosis-deafness syndrome? ( 30891482 )
2019
44
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg. ( 31099403 )
2019
45
Corneal perforation after noncontact tonometry in patients with active recurrent herpes simplex keratitis: case report. ( 29417444 )
2019
46
Pathogenesis of herpes simplex keratitis: The host cell response and ocular surface sequelae to infection and inflammation. ( 30317007 )
2019
47
Case Series: Pediatric Herpes Simplex Keratitis. ( 30801497 )
2019
48
Erratum for Riccio et al., "Characterization of Sex Differences in Ocular Herpes Simplex Virus 1 Infection and Herpes Stromal Keratitis Pathogenesis of Wild-Type and Herpesvirus Entry Mediator Knockout Mice". ( 31092604 )
2019
49
Modulation of Corneal FAK/PI3K/Akt Signaling Expression and of Metalloproteinase-2 and Metalloproteinase-9 during the Development of Herpes Simplex Keratitis. ( 31061823 )
2019
50
Short-term results of acellular porcine corneal stroma keratoplasty for herpes simplex keratitis. ( 30968461 )
2019

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6 (show top 50) (show all 174)
# 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.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
4 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
5 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
6 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
7 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
8 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
9 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh38 Chromosome 11, 31793787: 31793787
10 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335
11 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
12 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
13 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
14 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
15 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
16 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
17 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
18 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh38 Chromosome 11, 31785931: 31785931
19 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
20 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
21 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
22 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
23 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
24 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
25 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
26 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
27 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540
28 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
29 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh38 Chromosome 11, 31788647: 31788647
30 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh37 Chromosome 11, 31810195: 31810195
31 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh38 Chromosome 11, 31788750: 31788750
32 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh37 Chromosome 11, 31810298: 31810298
33 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh38 Chromosome 11, 31788871: 31788871
34 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh37 Chromosome 11, 31810419: 31810419
35 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh37 Chromosome 11, 31823139: 31823139
36 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh38 Chromosome 11, 31801591: 31801591
37 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh37 Chromosome 11, 31823332: 31823332
38 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh38 Chromosome 11, 31801784: 31801784
39 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh37 Chromosome 11, 31832571: 31832571
40 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh38 Chromosome 11, 31811023: 31811023
41 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh38 Chromosome 11, 31784826: 31784826
42 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh37 Chromosome 11, 31806374: 31806374
43 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh38 Chromosome 11, 31785013: 31785015
44 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh37 Chromosome 11, 31806561: 31806563
45 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh38 Chromosome 11, 31785238: 31785238
46 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh37 Chromosome 11, 31806786: 31806786
47 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh38 Chromosome 11, 31785335: 31785335
48 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh37 Chromosome 11, 31806883: 31806883
49 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh38 Chromosome 11, 31785573: 31785573
50 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh37 Chromosome 11, 31807121: 31807121

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 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2
Show member pathways
13.35 CXCL1 CXCL2 FGF2 IL17A IL1B TLR2
3
Show member pathways
13.29 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
4
Show member pathways
12.83 CXCL1 CXCL2 FGF2 IL1B MMP9 TLR2
5
Show member pathways
12.24 FGF2 IL1B MIF TLR4
6 12.21 FGF2 MMP9 TLR2 TLR4 VEGFA
7
Show member pathways
12.18 CXCL1 CXCL2 IL17A IL1B MMP9 TLR2
8 12.12 MMP9 TLR2 TLR4 VEGFA
9
Show member pathways
12.1 CXCL1 CXCL2 IL1B MMP9 PECAM1 TLR2
10 12.04 IL1B MMP9 PECAM1 VEGFA
11
Show member pathways
12.01 IL17A IL1B TLR2 TLR4
12
Show member pathways
11.99 IL1B MMP9 TLR2 TLR4
13
Show member pathways
11.91 ACKR1 CXCL1 CXCL2
14 11.91 CXCL1 CXCL2 IL1B MMP9
15 11.86 FGF2 IL17A IL1B MMP9 VEGFA
16 11.85 CXCL2 IL1B TLR4
17 11.82 CXCL1 IL1B TLR2 TLR4
18
Show member pathways
11.81 CXCL1 IL17A TLR4
19 11.78 FGF2 MMP9 PECAM1
20 11.76 CXCL1 CXCL2 IL1B TLR4
21 11.72 FGF2 PAX6 VEGFA
22 11.65 CXCL1 IL17A IL1B MMP9
23 11.62 FGF2 MMP9 VEGFA
24 11.58 CXCL2 FGF2 IL1B MMP9
25
Show member pathways
11.52 CXCL2 IL1B MIF MMP9 VEGFA
26 11.51 CXCL1 CXCL2 IL1B MIF MMP9 TLR4
27 11.48 CXCL1 CXCL2 IL1B
28 11.47 IL1B TLR2 TLR4
29 11.4 CXCL1 CXCL2 IL1B TLR2 TLR4
30 11.24 ACKR1 IL1B PECAM1 TLR2 TLR4
31 11.21 CXCL1 CXCL2 IL1B
32 11.15 CXCL1 CXCL2 IL17A IL1B
33 11.13 IL1B MMP9 TLR2
34 11.1 FGF2 MMP9 VEGFA
35 11.06 CXCL1 IL17A IL1B TLR2 TLR4 VEGFA
36 10.96 CXCL1 CXCL2 FGF2 IL17A IL1B
37 10.73 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 region GO:0005576 9.61 CXCL1 CXCL2 FAM20C FGF2 IL17A IL1B
2 extracellular space GO:0005615 9.32 CXCL1 CXCL2 FAM20C FGF2 IL17A IL1B

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 IL1B PAX6 TLR2 TLR4 VEGFA
2 leukocyte migration GO:0050900 9.88 IL1B MIF MMP9 PECAM1
3 immune response GO:0006955 9.85 CXCL1 CXCL2 IL17A IL1B TLR2 TLR4
4 positive regulation of protein phosphorylation GO:0001934 9.84 IL1B MIF MMP9 VEGFA
5 neutrophil chemotaxis GO:0030593 9.8 CXCL1 CXCL2 IL1B
6 response to lipopolysaccharide GO:0032496 9.8 GJB2 IL1B TLR2 TLR4
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 FGF2 MIF TLR4
8 cellular response to lipopolysaccharide GO:0071222 9.78 CXCL1 CXCL2 IL1B TLR4
9 chemokine-mediated signaling pathway GO:0070098 9.77 ACKR1 CXCL1 CXCL2
10 positive regulation of MAP kinase activity GO:0043406 9.76 FGF2 MIF VEGFA
11 positive regulation of interleukin-6 production GO:0032755 9.73 IL1B TLR2 TLR4
12 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.7 IL1B TLR2 TLR4
13 regulation of signaling receptor activity GO:0010469 9.7 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
14 positive regulation of tumor necrosis factor production GO:0032760 9.69 MIF TLR2 TLR4
15 eye photoreceptor cell development GO:0042462 9.66 PAX6 VEGFA
16 macrophage differentiation GO:0030225 9.66 MMP9 VEGFA
17 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.65 IL17A TLR4
18 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.65 TLR2 TLR4
19 wound healing GO:0042060 9.65 FGF2 PECAM1
20 regulation of cytokine secretion GO:0050707 9.64 TLR2 TLR4
21 I-kappaB phosphorylation GO:0007252 9.64 TLR2 TLR4
22 response to molecule of bacterial origin GO:0002237 9.63 CXCL2 TLR2
23 positive chemotaxis GO:0050918 9.63 FGF2 MIF VEGFA
24 cellular response to lipoteichoic acid GO:0071223 9.61 TLR2 TLR4
25 positive regulation of cell division GO:0051781 9.61 FGF2 IL1B VEGFA
26 lipopolysaccharide-mediated signaling pathway GO:0031663 9.58 IL1B TLR2 TLR4
27 positive regulation of interleukin-8 production GO:0032757 9.5 IL1B TLR2 TLR4
28 cytokine-mediated signaling pathway GO:0019221 9.5 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
29 negative regulation of neural precursor cell proliferation GO:2000178 9.33 PAX6
30 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.26 TLR2 TLR4
31 inflammatory response GO:0006954 9.23 ACKR1 CXCL1 CXCL2 IL17A IL1B MIF
32 signal transduction GO:0007165 10.21 ACKR1 CXCL1 FGF2 GDI1 IL1B PECAM1
33 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 FGF2 IL17A IL1B PAX6 TLR2 TLR4
34 neutrophil degranulation GO:0043312 10 CXCL1 MIF MMP9 PECAM1 TLR2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.17 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2 lipopolysaccharide receptor activity GO:0001875 9.16 TLR2 TLR4
3 chemoattractant activity GO:0042056 9.13 FGF2 MIF VEGFA

Sources for Keratitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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