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OCP
MCID: OCL020
MIFTS: 54

Ocular Cicatricial Pemphigoid (OCP)

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ocular Cicatricial Pemphigoid

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MalaCards integrated aliases for Ocular Cicatricial Pemphigoid:

Name: Ocular Cicatricial Pemphigoid 56 52 58 54 17 71
Mucous Membrane Pemphigoid 58 17
Pemphigoid, Benign Mucous Membrane 71
Cicatricial Pemphigoid, Ocular 52
Pemphigoid, Ocular Cicatricial 52
Mucosynechial Pemphigoid 58
Cicatricial Pemphigoid 58
Mucosal Pemphigoid 58
Ocp 56

Characteristics:

Orphanet epidemiological data:

58
mucous membrane pemphigoid
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ocular cicatricial pemphigoid:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 164185
ICD10 via Orphanet 33 H13.3* L12.1 L12+
UMLS via Orphanet 72 C0030804 C0157721
MedGen 41 C1282359
UMLS 71 C0030804 C1282359
Sources

Summaries for Ocular Cicatricial Pemphigoid

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NIH Rare Diseases : 52 Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders ) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system .

MalaCards based summary : Ocular Cicatricial Pemphigoid, also known as mucous membrane pemphigoid, is related to bullous pemphigoid and chronic graft versus host disease. An important gene associated with Ocular Cicatricial Pemphigoid is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Mycophenolic acid and rituximab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and t cells, and related phenotypes are autoimmunity and oral mucosal blisters

More information from OMIM: 164185
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Related Diseases for Ocular Cicatricial Pemphigoid

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Diseases related to Ocular Cicatricial Pemphigoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 309)
# Related Disease Score Top Affiliating Genes
1 bullous pemphigoid 30.9 RNASE3 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
2 chronic graft versus host disease 30.8 CD79A CD36
3 keratoconjunctivitis 30.8 RNASE3 NGF IL4
4 pemphigus 30.8 IL4 HLA-DRB1 HLA-DQB1 CD79A
5 linear iga disease 30.7 ITGB4 CD79A
6 dermatitis herpetiformis 30.7 IL4 HLA-DQB1 CD79A
7 keratoconjunctivitis sicca 30.7 NGF IL4 CD79A
8 severe cutaneous adverse reaction 30.6 TNFRSF1B HLA-DRB1 HLA-DQB1
9 trachoma 30.6 TGFB1 IL4 CCN2
10 scleroderma, familial progressive 30.6 CD36 CCN2
11 epidermolysis bullosa acquisita 30.6 SERPINH1 ITGB4 HLA-DRB1
12 atopic keratoconjunctivitis 30.4 RNASE3 PRG2 IL4
13 glomerulonephritis 29.9 TGFB1 MIF CSF1 CD79A CCN2
14 proteasome-associated autoinflammatory syndrome 1 29.8 TNFRSF1B RNASE3 IL4
15 cicatricial pemphigoid 29.7 TNFRSF1B SERPINH1 NGF ITGB4 ITGA6 IL4
16 urticaria 29.7 RNASE3 PRG2 IL4
17 allergic hypersensitivity disease 29.7 RNASE3 PRG2 IL4 CD79A
18 rhinitis 29.6 RNASE3 PRG2 NGF IL4
19 pancreatic adenocarcinoma 29.3 TGFBR2 TGFB1 NTRK1 CSF1 CCN2
20 skin disease 29.2 TNFRSF1B RNASE3 ITGB4 ITGA6 IL4 CD79A
21 autoimmune disease 29.0 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
22 connective tissue disease 28.0 TNFRSF1B TGFBR2 SERPINH1 PRG2 IL4 HLA-DRB1
23 arthritis 27.8 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
24 systemic lupus erythematosus 27.6 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
25 rheumatoid arthritis 27.5 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
26 brunsting-perry syndrome 12.4
27 conjunctivitis 10.7
28 yemenite deaf-blind hypopigmentation syndrome 10.6
29 gingivitis 10.6
30 entropion 10.6
31 erythema multiforme 10.6
32 erythema multiforme major 10.5
33 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
34 chronic conjunctivitis 10.5
35 leukoregulin 10.5 TGFB1 CSF1
36 keratitis, hereditary 10.5
37 pemphigus vulgaris, familial 10.5
38 keratopathy 10.5
39 conjunctival disease 10.5
40 juvenile myasthenia gravis 10.5 TGFB1 HLA-DRB1
41 dysphagia 10.4
42 limbic encephalitis with lgi1 antibodies 10.4 HLA-DRB1 HLA-DQB1
43 oral lichen planus 10.4
44 onchocerciasis 10.4
45 neutropenia 10.4
46 cataract 10.4
47 autoimmune polyglandular syndrome type 3 10.4 HLA-DRB1 HLA-DQB1
48 pemphigoid gestationis 10.4
49 keloid disorder 10.4 TGFB1 SERPINH1 CD36
50 fibromatosis, gingival, 1 10.4 TGFB1 SERPINH1 CD36

Graphical network of the top 20 diseases related to Ocular Cicatricial Pemphigoid:



Diseases related to Ocular Cicatricial Pemphigoid
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Symptoms & Phenotypes for Ocular Cicatricial Pemphigoid

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Human phenotypes related to Ocular Cicatricial Pemphigoid:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
2 oral mucosal blisters 58 31 hallmark (90%) Very frequent (99-80%) HP:0200097
3 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
4 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
5 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
6 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
7 abnormality of the eye 31 HP:0000478
8 abnormal blistering of the skin 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Eyes:
ocular dominance

Clinical features from OMIM:

164185

GenomeRNAi Phenotypes related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 CD36 CD79A HLA-DQB1 IL4 SERPINH1

MGI Mouse Phenotypes related to Ocular Cicatricial Pemphigoid:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 ACTA2 CCN2 CD36 CSF1 HLA-DQB1 ITGA6
2 cellular MP:0005384 10.36 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
3 growth/size/body region MP:0005378 10.36 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
4 homeostasis/metabolism MP:0005376 10.36 CCN2 CD36 CD79A CIITA CSF1 HLA-DQB1
5 hematopoietic system MP:0005397 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
6 immune system MP:0005387 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
7 mortality/aging MP:0010768 10.28 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
8 digestive/alimentary MP:0005381 10.27 CCN2 CD36 HLA-DQB1 IL4 ITGA6 ITGB4
9 endocrine/exocrine gland MP:0005379 10.26 CCN2 CD36 CIITA CSF1 HLA-DQB1 IL4
10 craniofacial MP:0005382 10.23 CCN2 CSF1 IL4 ITGA6 ITGB4 SERPINH1
11 nervous system MP:0003631 10.21 CD36 CD79A CSF1 HLA-DQB1 IL4 ITGA6
12 integument MP:0010771 10.18 CCN2 CSF1 IL4 ITGA6 ITGB4 NGF
13 liver/biliary system MP:0005370 10.11 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
14 muscle MP:0005369 10.06 ACTA2 CD36 CSF1 HLA-DQB1 NGF NTRK1
15 normal MP:0002873 10.02 CCN2 CD79A CIITA HLA-DQB1 IL4 MIF
16 hearing/vestibular/ear MP:0005377 10.01 CCN2 CSF1 ITGA6 ITGB4 MIF NTRK1
17 renal/urinary system MP:0005367 9.91 CD36 CD79A HLA-DQB1 IL4 ITGA6 ITGB4
18 respiratory system MP:0005388 9.9 CCN2 CSF1 HLA-DQB1 IL4 ITGA6 ITGB4
19 skeleton MP:0005390 9.61 CCN2 CD36 CIITA CSF1 IL4 SERPINH1
20 vision/eye MP:0005391 9.4 ACTA2 CCN2 CD36 CSF1 IL4 ITGA6
Sources

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

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Drugs for Ocular Cicatricial Pemphigoid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 3 24280-93-1 446541
2
rituximab Approved Phase 3 174722-31-7 10201696
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4 Antitubercular Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Antibiotics, Antitubercular Phase 3
7 Anti-Bacterial Agents Phase 3
8 Antineoplastic Agents, Immunological Phase 3
9 Antirheumatic Agents Phase 3
10 Immunologic Factors Phase 3
11 Alkylating Agents Phase 3
12 Immunosuppressive Agents Phase 3
13 Pharmaceutical Solutions Phase 1, Phase 2
14
Formaldehyde Approved, Vet_approved 50-00-0 712
15
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
16
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
17 Immunoglobulins
18 Autoantibodies
19 Antibodies
20 Vitamins
21 Trace Elements
22 Micronutrients
23 Vitamin B Complex
24 Nutrients
25 Vitamin B2
26 Vitamin B9
27 Folate
28 Photosensitizing Agents
29 Dextrans

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Completed NCT02993133 Phase 3 Cellcept® in autoimmune bullous dermatoses
2 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
3 Randomized Double Blind Double Dummy Control Trial Comparing the Safety and Efficacy of Rituximab Versus Oral Cyclophosphamide in Severe Forms of Mucous Membrane Pemphigoid Recruiting NCT03295383 Phase 3 Rituximab 1g IV;Cyclophosphamide 50Mg Oral Tablet;Placebo of Rituximab;Placebo Oral Tablet
4 Phase I/II Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
5 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
6 Translational Stem Cell Research in Ophthalmology - Regenerating the Anterior Cornea Through Standardized Transplantation of Limbal Epithelial Stem Cells: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
7 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
8 The Improvement of Limbal Epithelial Culture Technique for the Treatment of Unilateral Limbal Insufficiency by Using Collagenase to Isolate Limbal Stem Cells Unknown status NCT02202642 Phase 1
9 Topical Infliximab for the Treatment of Sterile Corneal Melt Recruiting NCT02987686 Phase 1 Topical Infliximab
10 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079
11 Evaluation of Immune Responses to Different Antigens in Non Infectious Ocular Inflammatory Diseases Completed NCT00357071
12 Systemic Immunosupressive Therapy for Eye Diseases (SITE) Cohort Study Completed NCT00116090
13 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
14 The Effects of Allogeneic Simple Limbal Epithelial Transplantation Recruiting NCT04021134
15 Corneal Collagen Crosslinking to Increase the Resistance of the Graft Used as a Support for the Boston Keratoprosthesis Type I Against Corneal Melting Recruiting NCT03041883
16 An Investigator-initiated Trial (IIT) on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation in Corneal Limbal Deficiency Patients Available NCT02149732
17 Proteomic and Metabolomic Lacrimal Fingerprint in Diverse Pathologies of the Ocular Surface Not yet recruiting NCT04198740
18 Histologic Evaluation Comparing Power Settings in Radiofrequency Ablation on Eyelash Follicles Not yet recruiting NCT03947723
19 Intraocular Pressure Monitoring With Implantable Intraocular Pressure Sensor for Improved Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548

Search NIH Clinical Center for Ocular Cicatricial Pemphigoid

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Genetic Tests for Ocular Cicatricial Pemphigoid

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Anatomical Context for Ocular Cicatricial Pemphigoid

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MalaCards organs/tissues related to Ocular Cicatricial Pemphigoid:

40
Skin, Eye, T Cells, Thyroid, Testes, Liver, Salivary Gland
Sources

Publications for Ocular Cicatricial Pemphigoid

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Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 1005)
# Title Authors PMID Year
1
Chronic cicatrizing conjunctivitis in a patient with ocular cicatricial pemphigoid and fatal Wegener granulomatosis. 61 56
11730661 2001
2
Association of DQw7 (DQB1*0301) with ocular cicatricial pemphigoid. 61 56
1763074 1991
3
Relative risk for cancer in mucous membrane pemphigoid associated with antibodies to the beta4 integrin subunit. 54 61
17524068 2007
4
Antigen specificity in subsets of mucous membrane pemphigoid. 54 61
16810295 2006
5
Identification of ocular cicatricial pemphigoid antibody binding site(s) in human beta4 integrin. 54 61
11157870 2001
6
The role of antibody to human beta4 integrin in conjunctival basement membrane separation: possible in vitro model for ocular cicatricial pemphigoid. 54 61
10476794 1999
7
A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. 54 61
8710911 1996
8
Mucous membrane pemphigoid and lichenoid reactions after immune checkpoint inhibitors: common pathomechanisms. 61
31660663 2020
9
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. 61
30732510 2020
10
Localized bullous pemphigoid recurring at different sites: two case reports. 61
32031525 2020
11
Keratinocyte footprint assay discriminates antilaminin-332 pemphigoid from all other forms of pemphigoid diseases. 61
31090065 2020
12
Targeting interleukin 4 receptor α: A new approach to the treatment of cutaneous autoimmune bullous diseases? 61
31863534 2020
13
Validation of a clinical assessment tool for cicatrising conjunctivitis. 61
31693934 2020
14
Characterization of Progressive Cicatrizing Conjunctivitis With Negative Immunofluorescence Staining. 61
31560878 2020
15
Mucocutaneous Diseases. 61
31735224 2020
16
Custom dental trays with topical corticosteroids for management of gingival lesions of mucous membrane pemphigoid. 61
31909487 2020
17
Management of Mucous Membrane Pemphigoid in a Joint Oral Medicine-Dermatology Clinic. 61
32003042 2020
18
Mucous membrane pemphigoid-otorhinolaryngological manifestations: a retrospective cohort study. 61
31980882 2020
19
Mucous membrane pemphigoid involving the urethra: a case series. 61
31955463 2020
20
Oesophagitis Dissecans Superficialis as the Presenting Sign of Isolated Oesophageal Mucous Membrane Pemphigoid. 61
31826056 2019
21
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 61
31313078 2019
22
Japanese guidelines for the management of pemphigoid (including epidermolysis bullosa acquisita). 61
31646663 2019
23
Detachment of keratinocytes at the basement membrane zone caused by inhibitory effect of the antibodies from sera of mucous membrane pemphigoid patients. 61
31515818 2019
24
A Severe, Refractory Case of Mucous Membrane Pemphigoid After Treatment With Pembrolizumab: Brief Communication. 61
31246641 2019
25
Childhood ocular mucous membrane pemphigoid successfully treated with rituximab. 61
31448438 2019
26
Contribution to oral and maxillary surgery and surgical technique of osteo-odontokeratoprosthesis in Japan. 61
31378404 2019
27
Nivolumab-related mucous membrane pemphigoid. 61
31586756 2019
28
Glaucoma Management in Patients With Aniridia and Boston Type 1 Keratoprosthesis. 61
31247168 2019
29
Clinical Characteristics and Outcomes of Ocular Cicatricial Pemphigoid: A Cohort Study and Literature Review. 61
31356420 2019
30
Microbial Keratitis and Ocular Surface Disease: A 5-Year Study of the Microbiology, Risk Factors and Clinical Outcomes in Sydney, Australia. 61
31189397 2019
31
Pharyngeal obstruction due to hemorrhagic bullae in a patient with anti-BP180-type mucous membrane pemphigoid associated with acquired hemophilia A. 61
31062391 2019
32
Mucous membrane pemphigoid and oral blistering diseases. 61
31102296 2019
33
[Rituximab use in mucous membrane pemphigoid]. 61
31358309 2019
34
Clinical Outcome of Autologous Cultivated Oral Mucosal Epithelial Transplantation in Ocular Surface Reconstruction. 61
31356413 2019
35
Mucous Membrane Pemphigoid Presenting With Esophageal Manifestations: A Case Series. 61
31498153 2019
36
A gut connection in mucous membrane pemphigoid: Insights into the role of the microbiome. 61
31541701 2019
37
Successful treatment of a mucous membrane pemphigoid in a young dog. 61
31627220 2019
38
[Successful treatment of a mucous membrane pemphigoid in a young dog]. 61
31627226 2019
39
Concurrent mucous membrane pemphigoid and membranous glomerulonephritis in a patient with autoantibodies targeting the 1080 region of collagen XVII. 61
30916378 2019
40
Evaluation of IL8 pathway on the ocular surface: new insights in patients with ocular mucous membrane pemphigoid. 61
31486595 2019
41
Review of autoimmune blistering diseases: the Pemphigoid diseases. 61
31087464 2019
42
Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations. 61
31419189 2019
43
Validation of an Oral Disease Severity Score (ODSS) tool for use in oral mucous membrane pemphigoid. 61
31571192 2019
44
Dermatomyositis in patients with autoimmune blistering diseases. 61
31700982 2019
45
A case of late-onset neutropenia secondary to rituximab in a patient with mucous membrane pemphigoid. 61
31440566 2019
46
Epidermolysis bullosa acquisita: A comprehensive review. 61
31181325 2019
47
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies. 61
31268817 2019
48
[Pseudopemphigoid Induced by Topical Glaucoma Medications]. 61
31195414 2019
49
World Workshop of Oral Medicine VII: A systematic review of immunobiologic therapy for oral manifestations of pemphigoid and pemphigus. 61
31140696 2019
50
Ocular mucous membrane pemphigoid: a review. 61
31327149 2019
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Variations for Ocular Cicatricial Pemphigoid

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Expression for Ocular Cicatricial Pemphigoid

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Search GEO for disease gene expression data for Ocular Cicatricial Pemphigoid.
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Pathways for Ocular Cicatricial Pemphigoid

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Pathways related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.98 TNFRSF1B TGFB1 RNASE3 PRG2 MIF IL4
2
ERK Signaling 63
Show member pathways
 13.65 TNFRSF1B TGFBR2 TGFB1 PRG2 NTRK1 NGF
3
GPCR Pathway 63
Show member pathways
 13.61 TGFBR2 TGFB1 NTRK1 NGF ITGB4 ITGA6
4
TGF-Beta Pathway 63
Show member pathways
 13.47 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF ITGB4
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.29 TNFRSF1B TGFB1 IL4 HLA-DRB1 HLA-DQB1 CSF1
6
PAK Pathway 63
Show member pathways
 13.23 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF IL4
7
Akt Signaling 63
Show member pathways
 13.21 TNFRSF1B TGFB1 NTRK1 NGF ITGB4 ITGA6
8
PI3K-Akt signaling pathway 36
Show member pathways
 12.94 NTRK1 NGF ITGB4 ITGA6 IL4 CSF1
9
Actin Nucleation by ARP-WASP Complex 63
Show member pathways
 12.88 NTRK1 ITGB4 ITGA6 HLA-DRB1 HLA-DQB1 ACTA2
10
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.81 TGFBR2 TGFB1 NTRK1 ITGB4 ITGA6 ACTA2
11
Pathways in cancer 36
12.79 TGFBR2 TGFB1 NTRK1 ITGA6 IL4
12
Allograft rejection 1 36
Show member pathways
 12.76 TGFB1 RNASE3 PRG2 IL4 HLA-DRB1 HLA-DQB1
13
MAPK signaling pathway 36 1
12.72 TGFBR2 TGFB1 NTRK1 NGF CSF1
14
Phospholipase-C Pathway 63
Show member pathways
 12.7 TGFB1 PRG2 NTRK1 NGF ITGB4 ITGA6
15
Immune response NFAT in immune response 22
Show member pathways
 12.59 TNFRSF1B IL4 HLA-DRB1 HLA-DQB1 CD79A
16
Th17 cell differentiation 36
Show member pathways
 12.54 TGFBR2 TGFB1 IL4 HLA-DRB1 HLA-DQB1
17
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.3 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
18
Human T-cell leukemia virus 1 infection 36
12.29 TGFBR2 TGFB1 HLA-DRB1 HLA-DQB1
19
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.21 TGFB1 NTRK1 NGF IL4 CCN2
20
Tuberculosis 36
12.19 TGFB1 HLA-DRB1 HLA-DQB1 CIITA
21
Toxoplasmosis 36
Show member pathways
 12.01 TGFB1 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CIITA
22
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.92 IL4 CSF1 CD79A CD36
23
Interleukin-4 and 13 signaling 65
11.91 TNFRSF1B TGFB1 IL4 CD36
24
Rheumatoid arthritis 36
11.81 TGFB1 HLA-DRB1 HLA-DQB1 CSF1
25
G-protein signaling_RhoA regulation pathway 22
11.69 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
26
Microglia Activation During Neuroinflammation: Microglia Polarization 64
11.68 TGFB1 IL4 CD36
27
Lung fibrosis 1
11.62 TGFB1 IL4 CCN2
28
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.51 TGFBR2 TGFB1 CCN2
29
Interleukin-10 signaling 65
11.48 TNFRSF1B IL4 CSF1
30
Microglia Activation During Neuroinflammation: Steady-State Microglia 64
11.39 TGFBR2 TGFB1 NTRK1 NGF
31
Hematopoietic cell lineage 36
11.1 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CSF1 CD36
32
Cytokines and Inflammatory Response 1
11.09 TGFB1 IL4 HLA-DRB1 CSF1
33
Activation of TRKA receptors 65
Show member pathways
 10.7 NTRK1 NGF
34
G-protein signaling_Rap2B regulation pathway 22
10.51 TGFB1 PRG2 NTRK1 NGF ITGB4 ITGA6
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GO Terms for Ocular Cicatricial Pemphigoid

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Cellular components related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 TNFRSF1B TGFBR2 TGFB1 NTRK1 MIF ITGB4
2 extracellular region GO:0005576 10.11 TNFRSF1B TGFB1 RNASE3 PRG2 NGF MIF
3 receptor complex GO:0043235 9.71 TGFBR2 NTRK1 ITGB4 CD36
4 external side of plasma membrane GO:0009897 9.65 TGFBR2 ITGA6 HLA-DRB1 CD79A CD36
5 extracellular space GO:0005615 9.65 TGFB1 SERPINH1 RNASE3 NGF MIF IL4
6 endocytic vesicle membrane GO:0030666 9.61 HLA-DRB1 HLA-DQB1 CD36
7 membrane raft GO:0045121 9.55 TNFRSF1B TGFBR2 SERPINH1 CD79A CD36
8 hemidesmosome GO:0030056 9.37 ITGB4 ITGA6
9 cell surface GO:0009986 9.28 TGFBR2 TGFB1 NTRK1 MIF ITGB4 ITGA6

Biological processes related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 10 TNFRSF1B RNASE3 PRG2 MIF CD36
2 negative regulation of gene expression GO:0010629 9.97 TGFB1 MIF CD36 CCN2
3 inflammatory response GO:0006954 9.93 TNFRSF1B TGFB1 MIF CSF1 CIITA
4 cell surface receptor signaling pathway GO:0007166 9.92 TNFRSF1B MIF CD79A CD36
5 positive regulation of protein phosphorylation GO:0001934 9.85 TGFB1 NTRK1 MIF CCN2
6 cytokine-mediated signaling pathway GO:0019221 9.85 TNFRSF1B TGFB1 IL4 CSF1 CD36
7 cell-matrix adhesion GO:0007160 9.84 ITGB4 ITGA6 CCN2
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.83 TGFB1 MIF CD36
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 TGFB1 NTRK1 MIF CD36 CCN2
10 immune response GO:0006955 9.8 TNFRSF1B PRG2 IL4 HLA-DRB1 HLA-DQB1 CIITA
11 B cell differentiation GO:0030183 9.79 NTRK1 IL4 CD79A
12 response to wounding GO:0009611 9.79 TGFB1 ITGB4 CCN2
13 response to glucose GO:0009749 9.76 TGFBR2 TGFB1 CCN2
14 interferon-gamma-mediated signaling pathway GO:0060333 9.75 HLA-DRB1 HLA-DQB1 CIITA
15 negative regulation of neuron death GO:1901215 9.74 TNFRSF1B NTRK1 CSF1
16 positive regulation of gene expression GO:0010628 9.7 TGFB1 NGF IL4 CSF1 CD36 CCN2
17 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.66 HLA-DRB1 HLA-DQB1
18 pathway-restricted SMAD protein phosphorylation GO:0060389 9.65 TGFBR2 TGFB1
19 nerve growth factor signaling pathway GO:0038180 9.65 NTRK1 NGF
20 negative regulation of neuroinflammatory response GO:0150079 9.64 TNFRSF1B IL4
21 hemidesmosome assembly GO:0031581 9.64 ITGB4 ITGA6
22 amelogenesis GO:0097186 9.63 ITGB4 ITGA6
23 renal system development GO:0072001 9.63 ITGB4 ITGA6
24 cellular response to growth factor stimulus GO:0071363 9.62 TNFRSF1B TGFBR2 TGFB1 NTRK1
25 positive regulation of Ras protein signal transduction GO:0046579 9.61 NTRK1 NGF CSF1
26 response to cholesterol GO:0070723 9.6 TGFBR2 TGFB1
27 positive regulation of MHC class II biosynthetic process GO:0045348 9.59 IL4 CIITA
28 nail development GO:0035878 9.56 ITGB4 ITGA6
29 myeloid dendritic cell differentiation GO:0043011 9.54 TGFBR2 TGFB1 IL4
30 common-partner SMAD protein phosphorylation GO:0007182 9.52 TGFBR2 TGFB1
31 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.51 HLA-DRB1 HLA-DQB1
32 connective tissue development GO:0061448 9.49 TGFB1 CCN2
33 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DRB1 HLA-DQB1
34 digestive tract development GO:0048565 9.26 TGFBR2 TGFB1 ITGB4 ITGA6
35 aging GO:0007568 9.1 TNFRSF1B TGFBR2 TGFB1 NTRK1 CIITA CCN2

Molecular functions related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 TGFB1 MIF IL4 CSF1
2 insulin-like growth factor I binding GO:0031994 9.37 ITGB4 ITGA6
3 MHC class II receptor activity GO:0032395 9.32 HLA-DRB1 HLA-DQB1
4 type I transforming growth factor beta receptor binding GO:0034713 9.26 TGFBR2 TGFB1
5 growth factor activity GO:0008083 9.02 TGFB1 NGF IL4 CSF1 CCN2
6 neuregulin binding GO:0038132 8.96 ITGB4 ITGA6
Sources

Sources for Ocular Cicatricial Pemphigoid

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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