OCP
MCID: OCL020
MIFTS: 55

Ocular Cicatricial Pemphigoid (OCP)

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ocular Cicatricial Pemphigoid

MalaCards integrated aliases for Ocular Cicatricial Pemphigoid:

Name: Ocular Cicatricial Pemphigoid 57 53 59 55 17 72
Mucous Membrane Pemphigoid 59 17
Pemphigoid, Benign Mucous Membrane 72
Cicatricial Pemphigoid, Ocular 53
Pemphigoid, Ocular Cicatricial 53
Mucosynechial Pemphigoid 59
Cicatricial Pemphigoid 59
Mucosal Pemphigoid 59
Ocp 57

Characteristics:

Orphanet epidemiological data:

59
mucous membrane pemphigoid
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ocular cicatricial pemphigoid:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 164185
ICD10 via Orphanet 34 H13.3* L12.1 L12+
UMLS via Orphanet 73 C0030804 C0157721
MedGen 42 C1282359
UMLS 72 C0030804 C1282359

Summaries for Ocular Cicatricial Pemphigoid

NIH Rare Diseases : 53 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 cicatricial 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 eye, skin and t cells, and related phenotypes are autoimmunity and oral mucosal blisters

More information from OMIM: 164185

Related Diseases for Ocular Cicatricial Pemphigoid

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

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 31.2 TNFRSF1B SERPINH1 ITGB4 ITGA6 CD79A
2 keratoconjunctivitis 31.1 RNASE3 NGF IL4
3 linear iga disease 30.9 ITGB4 CD79A
4 keratoconjunctivitis sicca 30.9 NGF IL4 CD79A
5 bullous pemphigoid 30.9 RNASE3 ITGB4 ITGA6 HLA-DRB1 HLA-DQB1 CD79A
6 atopic keratoconjunctivitis 30.4 RNASE3 PRG2 IL4
7 glomerulonephritis 30.3 TGFB1 MIF CSF1 CD79A
8 skin disease 30.0 RNASE3 ITGB4 ITGA6 IL4 CD79A
9 connective tissue disease 29.9 SERPINH1 HLA-DRB1 CCN2 ACTA2
10 systemic lupus erythematosus 29.0 TNFRSF1B TGFB1 IL4 HLA-DRB1 HLA-DQB1 CSF1
11 arthritis 28.2 TNFRSF1B TGFB1 MIF HLA-DRB1 HLA-DQB1 CSF1
12 rheumatoid arthritis 27.6 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
13 brunsting-perry syndrome 12.4
14 autoimmune disease 10.8
15 conjunctivitis 10.7
16 limbic encephalitis with lgi1 antibodies 10.6 HLA-DRB1 HLA-DQB1
17 juvenile myasthenia gravis 10.6 TGFB1 HLA-DRB1
18 yemenite deaf-blind hypopigmentation syndrome 10.6
19 narcolepsy 2 10.6 HLA-DRB1 HLA-DQB1
20 gingivitis 10.6
21 autoimmune polyglandular syndrome type 3 10.6 HLA-DRB1 HLA-DQB1
22 entropion 10.6
23 erythema multiforme 10.6
24 fibromatosis, gingival, 1 10.6 TGFB1 SERPINH1 CD36
25 severe cutaneous adverse reaction 10.5
26 erythema multiforme major 10.5
27 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
28 hypersomnia 10.5 HLA-DRB1 HLA-DQB1
29 type ii mixed cryoglobulinemia 10.5 HLA-DRB1 HLA-DQB1
30 gingival fibromatosis 10.5 TGFB1 SERPINH1 CD36
31 eosinophilic granuloma 10.5 RNASE3 CD36
32 lichen planopilaris 10.5 HLA-DRB1 HLA-DQB1
33 metal allergy 10.5 HLA-DRB1 HLA-DQB1
34 chronic conjunctivitis 10.5
35 pemphigus 10.5
36 keratitis, hereditary 10.5
37 pemphigus vulgaris, familial 10.5
38 keratopathy 10.5
39 conjunctival disease 10.5
40 rheumatic heart disease 10.4 TGFB1 IL4 HLA-DRB1
41 dysphagia 10.4
42 epidermolysis bullosa with pyloric atresia 10.4 ITGB4 ITGA6
43 oral lichen planus 10.4
44 osteonecrosis of the jaw 10.4 TGFB1 HLA-DRB1 HLA-DQB1
45 neutropenia 10.4
46 cataract 10.4
47 onchocerciasis 10.4
48 pemphigoid gestationis 10.4
49 microscopic colitis 10.4 HLA-DRB1 HLA-DQB1 CD79A
50 toxoplasmosis 10.4 IL4 HLA-DQB1 CD79A

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



Diseases related to Ocular Cicatricial Pemphigoid

Symptoms & Phenotypes for Ocular Cicatricial Pemphigoid

Human phenotypes related to Ocular Cicatricial Pemphigoid:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
2 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
3 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
4 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
5 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
6 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
7 abnormality of the eye 32 HP:0000478
8 abnormal blistering of the skin 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
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:

46 (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 hematopoietic system MP:0005397 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
5 immune system MP:0005387 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
6 homeostasis/metabolism MP:0005376 10.32 CCN2 CD36 CD79A CIITA CSF1 HLA-DQB1
7 digestive/alimentary MP:0005381 10.27 CCN2 CD36 HLA-DQB1 IL4 ITGA6 ITGB4
8 endocrine/exocrine gland MP:0005379 10.26 CCN2 CD36 CIITA CSF1 HLA-DQB1 IL4
9 mortality/aging MP:0010768 10.25 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
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 10.13 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 respiratory system MP:0005388 9.9 CCN2 CSF1 HLA-DQB1 IL4 ITGA6 ITGB4
18 renal/urinary system MP:0005367 9.86 CD36 CD79A 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

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

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

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

Interventional clinical trials:

(show all 18)
# 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 Not yet 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 Histologic Evaluation Comparing Power Settings in Radiofrequency Ablation on Eyelash Follicles Not yet recruiting NCT03947723
18 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

Genetic Tests for Ocular Cicatricial Pemphigoid

Anatomical Context for Ocular Cicatricial Pemphigoid

MalaCards organs/tissues related to Ocular Cicatricial Pemphigoid:

41
Eye, Skin, T Cells, Testes, Salivary Gland, Trachea, Bone

Publications for Ocular Cicatricial Pemphigoid

Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 981)
# Title Authors PMID Year
1
Chronic cicatrizing conjunctivitis in a patient with ocular cicatricial pemphigoid and fatal Wegener granulomatosis. 38 8
11730661 2001
2
Association of DQw7 (DQB1*0301) with ocular cicatricial pemphigoid. 38 8
1763074 1991
3
Relative risk for cancer in mucous membrane pemphigoid associated with antibodies to the beta4 integrin subunit. 9 38
17524068 2007
4
Antigen specificity in subsets of mucous membrane pemphigoid. 9 38
16810295 2006
5
Identification of ocular cicatricial pemphigoid antibody binding site(s) in human beta4 integrin. 9 38
11157870 2001
6
The role of antibody to human beta4 integrin in conjunctival basement membrane separation: possible in vitro model for ocular cicatricial pemphigoid. 9 38
10476794 1999
7
A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. 9 38
8710911 1996
8
Contribution to oral and maxillary surgery and surgical technique of osteo-odontokeratoprosthesis in Japan. 38
31378404 2019
9
Epidermolysis bullosa acquisita: A comprehensive review. 38
31181325 2019
10
Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations. 38
31419189 2019
11
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 38
31313078 2019
12
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies. 38
31268817 2019
13
Clinical Outcome of Autologous Cultivated Oral Mucosal Epithelial Transplantation in Ocular Surface Reconstruction. 38
31356413 2019
14
[Rituximab use in mucous membrane pemphigoid]. 38
31358309 2019
15
Ocular mucous membrane pemphigoid: a review. 38
31327149 2019
16
Clinical Characteristics and Outcomes of Ocular Cicatricial Pemphigoid: A Cohort Study and Literature Review. 38
31356420 2019
17
Glaucoma Management in Patients with Aniridia and Boston Type 1 Keratoprosthesis. 38
31247168 2019
18
Ocular Cicatricial Pemphigoid: Camouflaged as Persistent Conjunctivitis. 38
31142415 2019
19
Oral autoimmune vesicobullous diseases: Classification, clinical presentations, molecular mechanisms, diagnostic algorithms, and management. 38
31090146 2019
20
Microbial Keratitis and Ocular Surface Disease: A 5-Year Study of the Microbiology, Risk Factors and Clinical Outcomes in Sydney, Australia. 38
31189397 2019
21
A Severe, Refractory Case of Mucous Membrane Pemphigoid After Treatment With Pembrolizumab: Brief Communication. 38
31246641 2019
22
[Pseudopemphigoid Induced by Topical Glaucoma Medications]. 38
31195414 2019
23
World Workshop of Oral Medicine VII: A systematic review of immunobiologic therapy for oral manifestations of pemphigoid and pemphigus. 38
31140696 2019
24
Keratinocyte footprint assay discriminates antilaminin-332 pemphigoid from all other forms of pemphigoid diseases. 38
31090065 2019
25
Review of autoimmune blistering diseases: the Pemphigoid diseases. 38
31087464 2019
26
Indirect immunofluorescence in mucous membrane pemphigoid: which substrate should be used? 38
30693475 2019
27
[Anti-laminin 332 mucous membrane pemphigoid with irreversible ocular and tracheobronchial involvement : Delayed diagnosis of a severe autoimmune bullous disease]. 38
30963224 2019
28
Mucous membrane pemphigoid of the oral lichen type: a retrospective analysis of 16 cases. 38
30720898 2019
29
Mucous membrane pemphigoid and oral blistering diseases. 38
31102296 2019
30
Pharyngeal obstruction due to hemorrhagic bullae in a patient with anti-BP180-type mucous membrane pemphigoid associated with acquired hemophilia A. 38
31062391 2019
31
The optimal oral biopsy site for diagnosis of mucous membrane pemphigoid and pemphigus vulgaris. 38
31021396 2019
32
Mucous Membrane Pemphigoid-Associated Malignancies: Case Series and a Brief Overview of the Literature. 38
31106014 2019
33
Pemphigus and mucous membrane pemphigoid: An update from diagnosis to therapy. 38
30738958 2019
34
Ocular Manifestations and Management of Autoimmune Bullous Diseases. 38
31114657 2019
35
Consensus on the treatment of autoimmune bullous dermatoses: bullous pemphigoid, mucous membrane pemphigoid and epidermolysis bullosa acquisita - Brazilian Society of Dermatology. 38
31166405 2019
36
Fc-binding proteins enhance autoantibody-induced BP180 depletion in pemphigoid. 38
30426510 2019
37
Exacerbation of well-controlled bullous pemphigoid by the administration of a dipeptidyl peptidase-4 inhibitor. 38
30859617 2019
38
Concurrent mucous membrane pemphigoid and membranous glomerulonephritis in a patient with autoantibodies targeting the 1080 region of collagen XVII. 38
30916378 2019
39
Oral hygiene instructions and professional control as part of the treatment of desquamative gingivitis. Systematic review. 38
30818305 2019
40
Ocular Mucous Membrane Pemphigoid: Current State of Pathophysiology, Diagnostics and Treatment. 38
30694513 2019
41
Inflammatory Stress Causes N-Glycan Processing Deficiency in Ocular Autoimmune Disease. 38
30448401 2019
42
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. 38
30732510 2019
43
Epitope spread in chronic mucosal GVHD: mucous membrane pemphigoid resolution with rituximab. 38
29707776 2019
44
The identification of autoantigens in mucous membrane pemphigoid using immortalized oral mucosal keratinocytes. 38
30222210 2019
45
Complement Activation in Autoimmune Bullous Dermatoses: A Comprehensive Review. 38
31293600 2019
46
Lichen Planus Pemphigoides: From Lichenoid Inflammation to Autoantibody-Mediated Blistering. 38
31312198 2019
47
The direct binding of collagen XVII and collagen IV is disrupted by pemphigoid autoantibodies. 38
30089857 2019
48
Milia within resolving bullous pemphigoid lesions. 38
30956594 2019
49
Management of Ocular Cicatricial Pemphigoid with Intravenous Immunoglobulin Monotherapy. 38
29517945 2019
50
High-Dose Intravenous Immunoglobulin in Skin Autoimmune Disease. 38
31244821 2019

Variations for Ocular Cicatricial Pemphigoid

Expression for Ocular Cicatricial Pemphigoid

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

Pathways for Ocular Cicatricial Pemphigoid

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TNFRSF1B TGFB1 RNASE3 PRG2 MIF IL4
2
Show member pathways
13.77 TNFRSF1B TGFBR2 TGFB1 PRG2 NTRK1 NGF
3
Show member pathways
13.66 TGFBR2 TGFB1 NTRK1 NGF ITGB4 ITGA6
4
Show member pathways
13.48 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF ITGB4
5
Show member pathways
13.35 TGFBR2 TGFB1 PRG2 ITGB4 ITGA6 CD36
6
Show member pathways
13.3 TNFRSF1B TGFB1 IL4 HLA-DRB1 HLA-DQB1 CSF1
7
Show member pathways
13.25 TNFRSF1B TGFB1 NTRK1 NGF ITGB4 ITGA6
8
Show member pathways
13.21 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF IL4
9
Show member pathways
12.96 NTRK1 ITGB4 ITGA6 HLA-DRB1 HLA-DQB1 ACTA2
10
Show member pathways
12.95 NTRK1 NGF ITGB4 ITGA6 IL4 CSF1
11
Show member pathways
12.81 TGFBR2 TGFB1 NTRK1 ITGB4 ITGA6 ACTA2
12 12.79 TGFBR2 TGFB1 NTRK1 ITGA6 IL4
13 12.72 TGFBR2 TGFB1 NTRK1 NGF CSF1
14
Show member pathways
12.71 TNFRSF1B TGFB1 RNASE3 PRG2 IL4 HLA-DRB1
15
Show member pathways
12.7 TGFB1 PRG2 NTRK1 NGF ITGB4 ITGA6
16
Show member pathways
12.59 TNFRSF1B IL4 HLA-DRB1 HLA-DQB1 CD79A
17
Show member pathways
12.55 TGFBR2 TGFB1 IL4 HLA-DRB1 HLA-DQB1
18 12.31 TGFBR2 TGFB1 HLA-DRB1 HLA-DQB1
19
Show member pathways
12.3 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
20
Show member pathways
12.21 TGFB1 NTRK1 NGF IL4 CCN2
21 12.19 TGFB1 HLA-DRB1 HLA-DQB1 CIITA
22
Show member pathways
12.03 TNFRSF1B TGFBR2 TGFB1 NGF IL4 CCN2
23
Show member pathways
12.01 TGFB1 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CIITA
24 11.94 IL4 CSF1 CD79A CD36
25 11.93 TNFRSF1B TGFB1 IL4 CD36
26 11.83 TGFB1 HLA-DRB1 HLA-DQB1 CSF1
27 11.68 TGFB1 IL4 CD36
28 11.68 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
29 11.63 TGFB1 IL4 CCN2
30 11.51 TGFBR2 TGFB1 CCN2
31 11.49 TNFRSF1B IL4 CSF1
32 11.43 TGFBR2 TGFB1 NTRK1 NGF
33 11.29 TGFBR2 TGFB1 NTRK1 ITGB4 ITGA6 ACTA2
34 11.09 TGFB1 IL4 HLA-DRB1 CSF1
35 11.09 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CSF1 CD36
36
Show member pathways
10.7 NTRK1 NGF
37 10.51 TGFB1 PRG2 NTRK1 NGF ITGB4 ITGA6

GO Terms for Ocular Cicatricial Pemphigoid

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.65 TGFBR2 ITGA6 HLA-DRB1 CD79A CD36
2 extracellular space GO:0005615 9.65 TGFB1 SERPINH1 RNASE3 NGF MIF IL4
3 receptor complex GO:0043235 9.62 TGFBR2 NTRK1 ITGB4 CD36
4 endocytic vesicle membrane GO:0030666 9.58 HLA-DRB1 HLA-DQB1 CD36
5 membrane raft GO:0045121 9.55 TNFRSF1B TGFBR2 SERPINH1 CD79A CD36
6 hemidesmosome GO:0030056 9.37 ITGB4 ITGA6
7 cell surface GO:0009986 9.28 TGFBR2 TGFB1 NTRK1 MIF ITGB4 ITGA6
8 extracellular region GO:0005576 10.09 TNFRSF1B TGFB1 RNASE3 PRG2 NGF MIF

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.94 TNFRSF1B MIF CD79A CD36
2 negative regulation of gene expression GO:0010629 9.93 TGFB1 MIF CD36 CCN2
3 inflammatory response GO:0006954 9.89 TNFRSF1B TGFB1 MIF CSF1 CIITA
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.83 NTRK1 NGF CSF1
5 integrin-mediated signaling pathway GO:0007229 9.83 ITGB4 ITGA6 CCN2
6 positive regulation of protein phosphorylation GO:0001934 9.83 TGFB1 NTRK1 MIF CCN2
7 cytokine-mediated signaling pathway GO:0019221 9.83 TNFRSF1B TGFB1 IL4 CSF1 CD36
8 cell-matrix adhesion GO:0007160 9.82 ITGB4 ITGA6 CCN2
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 TGFB1 MIF CD36
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 TGFB1 NTRK1 MIF CD36 CCN2
11 immune response GO:0006955 9.8 TNFRSF1B PRG2 IL4 HLA-DRB1 HLA-DQB1 CIITA
12 response to wounding GO:0009611 9.77 TGFB1 ITGB4 CCN2
13 response to glucose GO:0009749 9.76 TGFBR2 TGFB1 CCN2
14 B cell differentiation GO:0030183 9.75 NTRK1 IL4 CD79A
15 interferon-gamma-mediated signaling pathway GO:0060333 9.74 HLA-DRB1 HLA-DQB1 CIITA
16 cellular response to growth factor stimulus GO:0071363 9.71 TNFRSF1B TGFB1 NTRK1
17 positive regulation of gene expression GO:0010628 9.7 TGFB1 NGF IL4 CSF1 CD36 CCN2
18 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.65 HLA-DRB1 HLA-DQB1
19 pathway-restricted SMAD protein phosphorylation GO:0060389 9.64 TGFBR2 TGFB1
20 nerve growth factor signaling pathway GO:0038180 9.62 NTRK1 NGF
21 hemidesmosome assembly GO:0031581 9.62 ITGB4 ITGA6
22 response to cholesterol GO:0070723 9.61 TGFBR2 TGFB1
23 amelogenesis GO:0097186 9.61 ITGB4 ITGA6
24 positive regulation of MHC class II biosynthetic process GO:0045348 9.56 IL4 CIITA
25 nail development GO:0035878 9.55 ITGB4 ITGA6
26 positive regulation of Ras protein signal transduction GO:0046579 9.54 NTRK1 NGF CSF1
27 common-partner SMAD protein phosphorylation GO:0007182 9.51 TGFBR2 TGFB1
28 myeloid dendritic cell differentiation GO:0043011 9.5 TGFBR2 TGFB1 IL4
29 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.48 HLA-DRB1 HLA-DQB1
30 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.46 HLA-DRB1 HLA-DQB1
31 digestive tract development GO:0048565 9.26 TGFBR2 TGFB1 ITGB4 ITGA6
32 aging GO:0007568 9.1 TNFRSF1B TGFBR2 TGFB1 NTRK1 CIITA CCN2
33 neutrophil degranulation GO:0043312 10 TNFRSF1B RNASE3 PRG2 MIF CD36

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 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFBR2 TGFB1
3 insulin-like growth factor I binding GO:0031994 9.32 ITGB4 ITGA6
4 MHC class II receptor activity GO:0032395 9.26 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 for Ocular Cicatricial Pemphigoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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