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OCP
MCID: OCL020
MIFTS: 55

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 keratoconjunctivitis. 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

Wikipedia : 74 Mucous membrane pemphigoid is a rare chronic autoimmune subepithelial blistering disease characterized... more...

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 312)
# Related Disease Score Top Affiliating Genes
1 bullous pemphigoid 30.9 RNASE3 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
2 keratoconjunctivitis 30.8 RNASE3 NGF IL4
3 chronic graft versus host disease 30.8 CD79A CD36
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 epidermolysis bullosa acquisita 30.5 SERPINH1 ITGB4 HLA-DRB1
10 scleroderma, familial progressive 30.5 CD36 CCN2
11 atopic keratoconjunctivitis 30.4 RNASE3 PRG2 IL4
12 cicatricial pemphigoid 29.9 TNFRSF1B TGFB1 SERPINH1 ITGB4 ITGA6 IL4
13 glomerulonephritis 29.9 TGFB1 MIF CSF1 CD79A CCN2
14 urticaria 29.7 RNASE3 PRG2 IL4
15 rhinitis 29.6 RNASE3 PRG2 NGF IL4
16 skin disease 29.2 TNFRSF1B RNASE3 ITGB4 ITGA6 IL4 CD79A
17 pancreatic adenocarcinoma 29.1 TGFBR2 TGFB1 NTRK1 NGF CSF1 CCN2
18 autoimmune disease 29.0 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
19 connective tissue disease 28.0 TNFRSF1B TGFBR2 SERPINH1 PRG2 IL4 HLA-DRB1
20 arthritis 27.8 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
21 systemic lupus erythematosus 27.6 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
22 rheumatoid arthritis 27.5 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
23 brunsting-perry syndrome 12.0
24 conjunctivitis 10.7
25 gingivitis 10.6
26 yemenite deaf-blind hypopigmentation syndrome 10.6
27 entropion 10.6
28 erythema multiforme 10.6
29 erythema multiforme major 10.5
30 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
31 chronic conjunctivitis 10.5
32 keratitis, hereditary 10.5
33 pemphigus vulgaris, familial 10.5
34 keratopathy 10.5
35 conjunctival disease 10.5
36 oral lichen planus 10.5
37 leukoregulin 10.4 TGFB1 CSF1
38 dysphagia 10.4
39 juvenile myasthenia gravis 10.4 TGFB1 HLA-DRB1
40 onchocerciasis 10.4
41 neutropenia 10.4
42 cataract 10.4
43 pemphigoid gestationis 10.4
44 limbic encephalitis with lgi1 antibodies 10.4 HLA-DRB1 HLA-DQB1
45 autoimmune polyglandular syndrome type 3 10.4 HLA-DRB1 HLA-DQB1
46 keloid disorder 10.4 TGFB1 SERPINH1 CD36
47 fibromatosis, gingival, 1 10.4 TGFB1 SERPINH1 CD36
48 hypersomnia 10.4 HLA-DRB1 HLA-DQB1
49 systemic autoimmune disease 10.4
50 narcolepsy 2 10.4 HLA-DRB1 HLA-DQB1

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 abnormal blistering of the skin 58 Occasional (29-5%)
8 abnormality of the eye 31 HP:0000478

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 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 ACTA2 CCN2 CD36 CSF1 HLA-DQB1 ITGA6
2 cellular MP:0005384 10.35 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
3 growth/size/body region MP:0005378 10.35 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
4 homeostasis/metabolism MP:0005376 10.34 CCN2 CD36 CD79A CIITA CSF1 HLA-DQB1
5 hematopoietic system MP:0005397 10.32 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
6 immune system MP:0005387 10.32 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
7 digestive/alimentary MP:0005381 10.26 CCN2 CD36 HLA-DQB1 IL4 ITGA6 ITGB4
8 endocrine/exocrine gland MP:0005379 10.25 CCN2 CD36 CIITA CSF1 HLA-DQB1 IL4
9 mortality/aging MP:0010768 10.25 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
10 craniofacial MP:0005382 10.22 CCN2 CSF1 IL4 ITGA6 ITGB4 SERPINH1
11 integument MP:0010771 10.2 CCN2 CSF1 IL4 ITGA6 ITGB4 NGF
12 nervous system MP:0003631 10.17 CD36 CD79A CSF1 HLA-DQB1 IL4 ITGA6
13 liver/biliary system MP:0005370 10.09 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
14 muscle MP:0005369 10.02 ACTA2 CD36 CSF1 HLA-DQB1 NGF NTRK1
15 hearing/vestibular/ear MP:0005377 10 CCN2 CSF1 ITGA6 ITGB4 MIF NTRK1
16 normal MP:0002873 9.96 CCN2 CD79A CIITA HLA-DQB1 IL4 MIF
17 renal/urinary system MP:0005367 9.81 CD36 CD79A HLA-DQB1 IL4 ITGA6 ITGB4
18 respiratory system MP:0005388 9.7 CCN2 CSF1 HLA-DQB1 IL4 ITGA6 ITGB4
19 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 Anti-Bacterial Agents Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Immunologic Factors Phase 3
9 Antirheumatic Agents Phase 3
10 Antineoplastic Agents, Immunological 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 Antibodies
19 Autoantibodies
20 Trace Elements
21 Micronutrients
22 Vitamins
23 Vitamin B Complex
24 Nutrients
25 Folate
26 Photosensitizing Agents
27 Vitamin B9
28 Vitamin B2
29 Dextrans

Interventional clinical trials:

(show all 20)
# 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 Acquired Chronic Erosive Gingivitis: Clinical Relevance of Papillary Gingival Biopsy. Retrospective Bicentric Study of 148 Samples and Systematic Review of the Literature Completed NCT04293718
13 Systemic Immunosupressive Therapy for Eye Diseases (SITE) Cohort Study Completed NCT00116090
14 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
15 The Effects of Allogeneic Simple Limbal Epithelial Transplantation Recruiting NCT04021134
16 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
17 An Investigator-initiated Trial (IIT) on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation in Corneal Limbal Deficiency Patients Available NCT02149732
18 Proteomic and Metabolomic Lacrimal Fingerprint in Diverse Pathologies of the Ocular Surface Not yet recruiting NCT04198740
19 Histologic Evaluation Comparing Power Settings in Radiofrequency Ablation on Eyelash Follicles Not yet recruiting NCT03947723
20 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, Testes, Salivary Gland, Trachea, Bone
Sources

Publications for Ocular Cicatricial Pemphigoid

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Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 1025)
# 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. 61 54
17524068 2007
4
Antigen specificity in subsets of mucous membrane pemphigoid. 61 54
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
Penile mucous membrane pemphigoid. 61
32558246 2020
9
Custom dental trays with topical corticosteroids for management of gingival lesions of mucous membrane pemphigoid. 61
31909487 2020
10
A service evaluation of the diagnostic testing for mucous membrane pemphigoid in a UK oral medicine unit. 61
32516854 2020
11
Autoimmune Muco-Cutaneous Blistering Diseases in the South of Italy: A 25-Year Retrospective Study on 169 Patients. 61
32531813 2020
12
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies. 61
31268817 2020
13
Mucous membrane pemphigoid and COVID-19 treated with high-dose intravenous immunoglobulins: a case report. 61
32363963 2020
14
Direct Injection of 5-Fluorouracil Improves Outcomes in Cicatrizing Conjunctival Disorders Secondary to Systemic Disease. 61
32427724 2020
15
Aggressive mucous membrane pemphigoid: a cross-specialty dilemma. 61
32468948 2020
16
Ocular cicatricial pemphigoid treated with intramuscular corticotropin injections. 61
32382644 2020
17
[Ocular Cicatricial Pemphigoid - a Case Report]. 61
32330983 2020
18
Corrigendum to "A gut connection in mucous membrane pemphigoid: Insights into the role of the microbiome" [Ocul Surf 17 (4) (2019) 615-616]. 61
32062067 2020
19
Report of two cases of mucous membrane pemphigoid with frontal fibrosing alopecia: a variant of lichen planus pemphigoides or an incidental finding? 61
32311113 2020
20
Reliability of Conjunctival Biopsy for Diagnosis of Ocular Mucous Membrane Pemphigoid: Redetermination of the Standard for Diagnosis and Outcomes of Previously Biopsy-Negative Patients. 61
32130051 2020
21
A Review Comparing International Guidelines for the Management of Bullous Pemphigoid, Pemphigoid Gestationis, Mucous Membrane Pemphigoid, and Epidermolysis Bullosa Acquisita. 61
32180161 2020
22
Evaluation of IL8 pathway on the ocular surface: new insights in patients with ocular mucous membrane pemphigoid. 61
31486595 2020
23
The optimal oral biopsy site for diagnosis of mucous membrane pemphigoid and pemphigus vulgaris. 61
31021396 2020
24
Characteristics Upon Presentation of Ocular Mucous Membrane Pemphigoid Patients in Puerto Rico. 61
32383565 2020
25
Mucous membrane pemphigoid-otorhinolaryngological manifestations: a retrospective cohort study. 61
31980882 2020
26
Persistent sore throat: a case of laryngeal mucous membrane pemphigoid. 61
32102894 2020
27
Conjunctival biopsy site in mucous membrane pemphigoid. 61
32067959 2020
28
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. 61
30732510 2020
29
Endoplasmic reticulum stress promotes inflammation-mediated proteolytic activity at the ocular surface. 61
32042069 2020
30
Mucous membrane pemphigoid and lichenoid reactions after immune checkpoint inhibitors: common pathomechanisms. 61
31660663 2020
31
Localized bullous pemphigoid recurring at different sites: two case reports. 61
32031525 2020
32
Keratinocyte footprint assay discriminates antilaminin-332 pemphigoid from all other forms of pemphigoid diseases. 61
31090065 2020
33
Validation of a clinical assessment tool for cicatrising conjunctivitis. 61
31693934 2020
34
Immune-Related Oral, Otologic, and Ocular Adverse Events. 61
32301024 2020
35
The long-term surgical outcomes of conjunctival-limbal autograft procedure with or without penetrating keratoplasty in eyes with unilateral limbal stem cell deficiency. 61
32309120 2020
36
Targeting interleukin 4 receptor α: A new approach to the treatment of cutaneous autoimmune bullous diseases? 61
31863534 2020
37
Mucocutaneous Diseases. 61
31735224 2020
38
Management of mucous membrane pemphigoid in a joint oral medicine-dermatology clinic. 61
32003042 2020
39
Characterization of Progressive Cicatrizing Conjunctivitis With Negative Immunofluorescence Staining. 61
31560878 2020
40
Clinical Outcomes From Cultivated Allogenic Stem Cells vs. Oral Mucosa Epithelial Transplants in Total Bilateral Stem Cells Deficiency. 61
32133365 2020
41
Mucous membrane pemphigoid involving the urethra: a case series. 61
31955463 2020
42
Oesophagitis Dissecans Superficialis as the Presenting Sign of Isolated Oesophageal Mucous Membrane Pemphigoid. 61
31826056 2019
43
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 61
31313078 2019
44
Japanese guidelines for the management of pemphigoid (including epidermolysis bullosa acquisita). 61
31646663 2019
45
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
46
A Severe, Refractory Case of Mucous Membrane Pemphigoid After Treatment With Pembrolizumab: Brief Communication. 61
31246641 2019
47
Childhood ocular mucous membrane pemphigoid successfully treated with rituximab. 61
31448438 2019
48
Bilateral keratoprostheses in a patient with ocular mucous membrane pemphigoid. 61
32045155 2019
49
Contribution to oral and maxillary surgery and surgical technique of osteo-odontokeratoprosthesis in Japan. 61
31378404 2019
50
Nivolumab-related mucous membrane pemphigoid. 61
31586756 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 36)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.97 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
 13.57 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
 13.22 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
 12.55 TGFBR2 TGFB1 IL4 HLA-DRB1 HLA-DQB1
17
Human T-cell leukemia virus 1 infection 36
12.29 TGFBR2 TGFB1 HLA-DRB1 HLA-DQB1
18
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.27 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
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 Cells 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
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.82 TGFB1 CD79A ACTA2
25
Rheumatoid arthritis 36
11.81 TGFB1 HLA-DRB1 HLA-DQB1 CSF1
26
Th17 Differentiation 64
Show member pathways
 11.8 TGFBR2 TGFB1 IL4
27
G-protein signaling_RhoA regulation pathway 22
11.68 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
28
Lung fibrosis 1
11.62 TGFB1 IL4 CCN2
29
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.51 TGFBR2 TGFB1 CCN2
30
Interleukin-10 signaling 65
11.48 TNFRSF1B IL4 CSF1
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
IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
10.93 TGFBR2 TGFB1 IL4
34
IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
10.74 TGFB1 IL4
35
Activation of TRKA receptors 65
Show member pathways
 10.7 NTRK1 NGF
36
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 extracellular space GO:0005615 9.7 TGFB1 SERPINH1 RNASE3 NGF MIF IL4
5 external side of plasma membrane GO:0009897 9.65 TGFBR2 ITGA6 HLA-DRB1 CD79A CD36
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 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.06 TGFBR2 TGFB1 IL4 CSF1 CCN2
2 neutrophil degranulation GO:0043312 9.99 TNFRSF1B RNASE3 PRG2 MIF CD36
3 inflammatory response GO:0006954 9.95 TNFRSF1B TGFB1 MIF CSF1 CIITA
4 positive regulation of cell migration GO:0030335 9.93 TGFB1 ITGA6 IL4 CSF1
5 cytokine-mediated signaling pathway GO:0019221 9.85 TNFRSF1B TGFB1 IL4 CSF1 CD36
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.84 TGFB1 MIF CD36
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.82 TGFB1 NGF MIF
8 immune response GO:0006955 9.8 TNFRSF1B PRG2 IL4 HLA-DRB1 HLA-DQB1 CIITA
9 B cell differentiation GO:0030183 9.79 NTRK1 IL4 CD79A
10 response to wounding GO:0009611 9.77 TGFB1 ITGB4 CCN2
11 positive regulation of protein phosphorylation GO:0001934 9.77 TGFB1 NTRK1 MIF HLA-DRB1 CCN2
12 response to glucose GO:0009749 9.76 TGFBR2 TGFB1 CCN2
13 interferon-gamma-mediated signaling pathway GO:0060333 9.75 HLA-DRB1 HLA-DQB1 CIITA
14 negative regulation of neuron death GO:1901215 9.74 TNFRSF1B NTRK1 CSF1
15 positive regulation of gene expression GO:0010628 9.7 TGFB1 NGF IL4 CSF1 CD36 CCN2
16 pathway-restricted SMAD protein phosphorylation GO:0060389 9.65 TGFBR2 TGFB1
17 nerve growth factor signaling pathway GO:0038180 9.65 NTRK1 NGF
18 negative regulation of neuroinflammatory response GO:0150079 9.64 TNFRSF1B IL4
19 hemidesmosome assembly GO:0031581 9.64 ITGB4 ITGA6
20 positive regulation of monocyte differentiation GO:0045657 9.63 HLA-DRB1 CSF1
21 skin morphogenesis GO:0043589 9.62 ITGB4 ITGA6
22 cellular response to growth factor stimulus GO:0071363 9.62 TNFRSF1B TGFBR2 TGFB1 NTRK1
23 response to cholesterol GO:0070723 9.61 TGFBR2 TGFB1
24 positive regulation of MHC class II biosynthetic process GO:0045348 9.61 IL4 CIITA
25 positive regulation of Ras protein signal transduction GO:0046579 9.61 NTRK1 NGF CSF1
26 myeloid dendritic cell differentiation GO:0043011 9.58 TGFBR2 TGFB1 IL4
27 nail development GO:0035878 9.56 ITGB4 ITGA6
28 positive regulation of mononuclear cell migration GO:0071677 9.54 TGFB1 IL4
29 common-partner SMAD protein phosphorylation GO:0007182 9.52 TGFBR2 TGFB1
30 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.51 HLA-DRB1 HLA-DQB1
31 connective tissue development GO:0061448 9.49 TGFB1 CCN2
32 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DRB1 HLA-DQB1
33 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.43 TGFB1 NTRK1 MIF HLA-DRB1 CD36 CCN2
34 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 9.62 TGFB1 MIF IL4 CSF1
2 insulin-like growth factor I binding GO:0031994 9.37 ITGB4 ITGA6
3 type I transforming growth factor beta receptor binding GO:0034713 9.26 TGFBR2 TGFB1
4 MHC class II receptor activity GO:0032395 9.16 HLA-DRB1 HLA-DQB1
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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