OCP
MCID: OCL020
MIFTS: 52

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 20 58 54 17 70
Pemphigoid, Benign Mucous Membrane 70
Cicatricial Pemphigoid, Ocular 20
Pemphigoid, Ocular Cicatricial 20
Mucous Membrane Pemphigoid 58
Mucosynechial Pemphigoid 58
Cicatricial Pemphigoid 58
Mucosal Pemphigoid 58
Ocp 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ocular cicatricial pemphigoid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 164185
ICD10 via Orphanet 33 H13.3* L12.1 L12+
UMLS via Orphanet 71 C0030804 C0157721
MedGen 41 C1282359
UMLS 70 C0030804 C1282359

Summaries for Ocular Cicatricial Pemphigoid

GARD : 20 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 pemphigoid, benign mucous membrane, is related to pemphigoid and cicatricial pemphigoid. 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 rituximab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include eye, salivary gland and bone, and related phenotypes are corneal opacity and blindness

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 316)
# Related Disease Score Top Affiliating Genes
1 pemphigoid 31.5 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
2 cicatricial pemphigoid 31.1 SERPINH1 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
3 pemphigus 30.8 IL4 HLA-DRB1 HLA-DQB1 CD79A
4 keratoconjunctivitis 30.7 RNASE3 NGF IL4
5 keratoconjunctivitis sicca 30.7 NGF IL4 CD79A
6 dermatitis herpetiformis 30.6 IL4 HLA-DQB1 CD79A
7 linear iga disease 30.6 ITGB4 CD79A
8 scleroderma, familial progressive 30.5 CD36 CCN2
9 epidermolysis bullosa acquisita 30.4 SERPINH1 ITGB4 HLA-DRB1
10 atopic keratoconjunctivitis 30.4 RNASE3 PRG2 IL4
11 bullous pemphigoid 30.2 RNASE3 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
12 esophagitis 30.0 RNASE3 PRG2 IL4
13 trachoma 30.0 TGFB1 IL4 HLA-DRB1 HLA-DQB1 CCN2
14 glomerulonephritis 30.0 TGFB1 MIF CSF1 CD79A CCN2
15 skin disease 29.8 RNASE3 ITGB4 ITGA6 IL4 CD79A CCN2
16 rhinitis 29.8 RNASE3 PRG2 NGF IL4
17 autoimmune disease 29.6 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
18 connective tissue disease 29.1 TGFBR2 SERPINH1 PRG2 IL4 HLA-DRB1 CD36
19 arthritis 28.4 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
20 systemic lupus erythematosus 28.3 TNFRSF1B TGFB1 MIF IL4 HLA-DRB1 HLA-DQB1
21 rheumatoid arthritis 28.1 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
22 brunsting-perry syndrome 11.4
23 conjunctivitis 10.7
24 entropion 10.6
25 yemenite deaf-blind hypopigmentation syndrome 10.6
26 gingivitis 10.6
27 erythema multiforme 10.6
28 severe cutaneous adverse reaction 10.5
29 erythema multiforme major 10.5
30 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
31 oral lichen planus 10.5
32 chronic conjunctivitis 10.5
33 keratitis, hereditary 10.4
34 pemphigus vulgaris, familial 10.4
35 keratopathy 10.4
36 conjunctival disease 10.4
37 neutropenia 10.4
38 cataract 10.4
39 dysphagia 10.4
40 pemphigoid gestationis 10.4
41 leukoregulin 10.4 TGFB1 CSF1
42 systemic autoimmune disease 10.4
43 juvenile myasthenia gravis 10.3 TGFB1 HLA-DRB1
44 periodontitis 10.3
45 limbic encephalitis with lgi1 antibodies 10.3 HLA-DRB1 HLA-DQB1
46 autoimmune polyglandular syndrome type 3 10.3 HLA-DRB1 HLA-DQB1
47 idiopathic hypersomnia 10.3 HLA-DRB1 HLA-DQB1
48 hypersomnia 10.3 HLA-DRB1 HLA-DQB1
49 keloid disorder 10.3 TGFB1 SERPINH1 CD36
50 fibromatosis, gingival, 1 10.3 TGFB1 SERPINH1 CD36

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
ocular dominance

Clinical features from OMIM®:

164185 (Updated 05-Apr-2021)

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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ACTA2 CCN2 CD36 CSF1 HLA-DQB1 ITGA6
2 cellular MP:0005384 10.34 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
3 growth/size/body region MP:0005378 10.32 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
4 immune system MP:0005387 10.32 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
5 hematopoietic system MP:0005397 10.31 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
6 mortality/aging MP:0010768 10.25 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
7 digestive/alimentary MP:0005381 10.24 CCN2 CD36 HLA-DQB1 IL4 ITGA6 ITGB4
8 endocrine/exocrine gland MP:0005379 10.22 CCN2 CD36 CIITA CSF1 HLA-DQB1 IL4
9 craniofacial MP:0005382 10.2 CCN2 CSF1 IL4 ITGA6 ITGB4 SERPINH1
10 integument MP:0010771 10.2 CCN2 CSF1 IL4 ITGA6 ITGB4 NGF
11 nervous system MP:0003631 10.17 CD36 CD79A CSF1 HLA-DQB1 IL4 ITGA6
12 liver/biliary system MP:0005370 10.09 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
13 muscle MP:0005369 10.02 ACTA2 CD36 CSF1 HLA-DQB1 NGF NTRK1
14 normal MP:0002873 9.96 CCN2 CD79A CIITA HLA-DQB1 IL4 MIF
15 renal/urinary system MP:0005367 9.81 CD36 CD79A HLA-DQB1 IL4 ITGA6 ITGB4
16 respiratory system MP:0005388 9.7 CCN2 CSF1 HLA-DQB1 IL4 ITGA6 ITGB4
17 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 top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3 174722-31-7 10201696
2
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
3
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
7
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
8
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
9
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
10
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
11
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
12
Dapsone Approved, Investigational Phase 2, Phase 3 80-08-0 2955
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
14
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
15
Cortisone Experimental Phase 2, Phase 3 53-06-5 222786
16 Antineoplastic Agents, Immunological Phase 3
17 Alkylating Agents Phase 3
18 Immunologic Factors Phase 2, Phase 3
19 Vitamin B9 Phase 2, Phase 3
20 Antibiotics, Antitubercular Phase 2, Phase 3
21 Folic Acid Antagonists Phase 2, Phase 3
22 Immunoglobulin A Phase 2, Phase 3
23 Neuroprotective Agents Phase 2, Phase 3
24 Hormone Antagonists Phase 2, Phase 3
25 Antiemetics Phase 2, Phase 3
26 Methylprednisolone Acetate Phase 2, Phase 3
27 glucocorticoids Phase 2, Phase 3
28 Triamcinolone diacetate Phase 2, Phase 3
29 Immunosuppressive Agents Phase 2, Phase 3
30 Hormones Phase 2, Phase 3
31 Triamcinolone hexacetonide Phase 2, Phase 3
32 Vitamin B Complex Phase 2, Phase 3
33 Antiparasitic Agents Phase 2, Phase 3
34 Antineoplastic Agents, Hormonal Phase 2, Phase 3
35 Folate Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 2, Phase 3
37 triamcinolone acetonide Phase 2, Phase 3
38 Antimalarials Phase 2, Phase 3
39 Antitubercular Agents Phase 2, Phase 3
40 Anti-Infective Agents Phase 2, Phase 3
41 Antiprotozoal Agents Phase 2, Phase 3
42 Anti-Inflammatory Agents Phase 2, Phase 3
43 Protective Agents Phase 2, Phase 3
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
45
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
46
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
47 Nutrients Phase 1, Phase 2
48 Micronutrients Phase 1, Phase 2
49 Trace Elements Phase 1, Phase 2
50 Photosensitizing Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
# 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 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
3 Clinical Evaluation of New Treatment Strategy of Mucous Membrane Pemphigoid Using Large Dose of Prednisolone Plus Intra-lesional of Triamcinolone Acetonide Followed by Combination of Mycophenolate Mofetil, Dapsone and Low Dose Prednisolone Active, not recruiting NCT04744623 Phase 2, Phase 3 large dose of prednisolone plus intra-lesional of Triamcinolone Acetonide followed the systemic combination of mycophenolate mofetil (MMF), dapsone and low dose prednisolone in treatment of MMP
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 Dexamethasone Solution and Dexamethasone in Mucolox™ for the Treatment of Oral Inflammatory Ulcerative Diseases Recruiting NCT04540133 Phase 2 dexamethasone 0.5mg/5ml solution;dexamethasone 0.5mg/5ml solution in Mucolox™
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 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
10 Proteomic and Metabolomic Lacrimal Fingerprint in Diverse Pathologies of the Ocular Surface Recruiting NCT04198740
11 An Investigator-initiated Trial (IIT) on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation in Corneal Limbal Deficiency Patients Available NCT02149732
12 Study of the Periodontal Microbiota in Gingival Cicatricial Pemphigoid Patients. Bicentric Pilot Study on 30 Patients. Not yet recruiting NCT04555681
13 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:

40
Eye, Salivary Gland, Bone, Endothelial, Neutrophil

Publications for Ocular Cicatricial Pemphigoid

Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 356)
# Title Authors PMID Year
1
Chronic cicatrizing conjunctivitis in a patient with ocular cicatricial pemphigoid and fatal Wegener granulomatosis. 57 61
11730661 2001
2
Association of DQw7 (DQB1*0301) with ocular cicatricial pemphigoid. 57 61
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. 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. 61 54
10476794 1999
7
A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. 61 54
8710911 1996
8
Direct Injection of 5-Fluorouracil Improves Outcomes in Cicatrizing Conjunctival Disorders Secondary to Systemic Disease. 61
32427724 2021
9
Rituximab as an Adjuvant Rescue Treatment for Ocular Cicatricial Pemphigoid. 61
33591038 2021
10
Ocular Cicatricial Pemphigoid, Sjögren's Syndrome, and Hashimoto's Thyroiditis as a Multiple Autoimmune Syndrome: A case report. 61
33601905 2021
11
A Case of Black Fungal Keratitis Caused by Biatriospora mackinnonii. 61
33528226 2021
12
Ocular Cicatricial Pemphigoid: Methotrexate as an Initial Treatment? 61
33454207 2021
13
Transmucosal Boston Keratoprosthesis Type I in a Patient With Advanced Ocular Cicatricial Pemphigoid. 61
32881715 2020
14
Oral Mucosal Epithelial Transplantation and Limbal-Rigid Contact Lens: A Therapeutic Modality for the Treatment of Severe Ocular Surface Disorders. 61
33181721 2020
15
Long-term outcomes of cultivated cell sheet transplantation for treating total limbal stem cell deficiency. 61
32599277 2020
16
Ocular cicatricial pemphigoid (Review). 61
32905166 2020
17
Ocular cicatricial pemphigoid treated with intramuscular corticotropin injections. 61
32382644 2020
18
Ocular cicatricial pemphigoid. 61
32685792 2020
19
[Ocular Cicatricial Pemphigoid - a Case Report]. 61
32330983 2020
20
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. 61
30732510 2020
21
Endoplasmic reticulum stress promotes inflammation-mediated proteolytic activity at the ocular surface. 61
32042069 2020
22
Clinical Outcomes From Cultivated Allogenic Stem Cells vs. Oral Mucosa Epithelial Transplants in Total Bilateral Stem Cells Deficiency. 61
32133365 2020
23
Clinical Characteristics and Outcomes of Ocular Cicatricial Pemphigoid: A Cohort Study and Literature Review. 61
31356420 2019
24
Microbial Keratitis and Ocular Surface Disease: A 5-Year Study of the Microbiology, Risk Factors and Clinical Outcomes in Sydney, Australia. 61
31189397 2019
25
Bilateral keratoprostheses in a patient with ocular mucous membrane pemphigoid. 61
32045155 2019
26
Contribution to oral and maxillary surgery and surgical technique of osteo-odontokeratoprosthesis in Japan. 61
31378404 2019
27
Clinical Outcome of Autologous Cultivated Oral Mucosal Epithelial Transplantation in Ocular Surface Reconstruction. 61
31356413 2019
28
Ocular Cicatricial Pemphigoid: Camouflaged as Persistent Conjunctivitis. 61
31142415 2019
29
Management of Ocular Cicatricial Pemphigoid with Intravenous Immunoglobulin Monotherapy. 61
29517945 2019
30
Ocular cicatricial pemphigoid. 61
30222656 2018
31
Corneal epithelial stem cells for corneal injury. 61
30092649 2018
32
Efficacy and adverse reactions of methotrexate in the treatment of ocular cicatricial pemphigoid: A case series study. 61
30235689 2018
33
Vitreoretinal Complications and Outcomes in 92 Eyes Undergoing Surgery for Modified Osteo-Odonto-Keratoprosthesis: A 10-Year Review. 61
29342438 2018
34
Adrenocorticotropic hormone analogue as novel treatment regimen in ocular cicatricial pemphigoid. 61
29780948 2018
35
Atopy in Patients With Ocular Cicatricial Pemphigoid. 61
29341971 2018
36
[Autologous serum tears: Long-term treatment in dry eye syndrome]. 61
29602451 2018
37
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. 61
29077176 2018
38
A case with corneal perforation due to bacterial concretion derived from lacrimal canaliculitis. 61
29577102 2018
39
Pure mucinous (colloid) adenocarcinoma of the conjunctiva. 61
29028127 2018
40
Cataract surgery in ocular surface diseases: clinical challenges and outcomes. 61
29210839 2018
41
Elevated Aqueous Cytokine Levels in Eyes With Ocular Surface Diseases. 61
28988898 2017
42
An unusual presentation of ocular rosacea. 61
29267579 2017
43
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. 61
28509683 2017
44
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. 61
28154932 2017
45
Endoscopic Cyclophotocoagulation for the Treatment of Glaucoma in Boston Keratoprosthesis Type II Patient. 61
28079656 2017
46
Update on ocular cicatricial pemphigoid and emerging treatments. 61
26708362 2016
47
Protective effect of soft contact lenses after Boston keratoprosthesis. 61
26276169 2016
48
[Ocular Cicatricial Pemphigoid - a Retrospective Study]. 61
27041284 2016
49
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. 61
27275431 2016
50
The role of intravenous immunoglobulin in treatment of mucous membrane pemphigoid: A review of literature. 61
27904583 2016

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
13.97 TNFRSF1B TGFB1 RNASE3 PRG2 MIF IL4
2
Show member pathways
13.65 TNFRSF1B TGFBR2 TGFB1 PRG2 NTRK1 NGF
3
Show member pathways
13.57 TGFBR2 TGFB1 NTRK1 NGF ITGB4 ITGA6
4
Show member pathways
13.47 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF ITGB4
5
Show member pathways
13.29 TNFRSF1B TGFB1 IL4 HLA-DRB1 HLA-DQB1 CSF1
6
Show member pathways
13.22 TNFRSF1B TGFBR2 TGFB1 NTRK1 NGF IL4
7
Show member pathways
13.21 TNFRSF1B TGFB1 NTRK1 NGF ITGB4 ITGA6
8
Show member pathways
12.94 NTRK1 NGF ITGB4 ITGA6 IL4 CSF1
9
Show member pathways
12.88 NTRK1 ITGB4 ITGA6 HLA-DRB1 HLA-DQB1 ACTA2
10
Show member pathways
12.81 TGFBR2 TGFB1 NTRK1 ITGB4 ITGA6 ACTA2
11 12.79 TGFBR2 TGFB1 NTRK1 ITGA6 IL4
12
Show member pathways
12.76 TGFB1 RNASE3 PRG2 IL4 HLA-DRB1 HLA-DQB1
13 12.72 TGFBR2 TGFB1 NTRK1 NGF CSF1
14
Show member pathways
12.7 TGFB1 PRG2 NTRK1 NGF ITGB4 ITGA6
15
Show member pathways
12.59 TNFRSF1B IL4 HLA-DRB1 HLA-DQB1 CD79A
16
Show member pathways
12.55 TGFBR2 TGFB1 IL4 HLA-DRB1 HLA-DQB1
17 12.29 TGFBR2 TGFB1 HLA-DRB1 HLA-DQB1
18
Show member pathways
12.27 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
19
Show member pathways
12.21 TGFB1 NTRK1 NGF IL4 CCN2
20 12.19 TGFB1 HLA-DRB1 HLA-DQB1 CIITA
21
Show member pathways
12.01 TGFB1 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CIITA
22 11.92 IL4 CSF1 CD79A CD36
23 11.91 TNFRSF1B TGFB1 IL4 CD36
24 11.83 TGFB1 CD79A ACTA2
25 11.81 TGFB1 HLA-DRB1 HLA-DQB1 CSF1
26
Show member pathways
11.8 TGFBR2 TGFB1 IL4
27 11.68 TGFB1 NTRK1 NGF ITGB4 ITGA6 CCN2
28 11.64 TGFB1 IL4 CD36
29 11.62 TGFB1 IL4 CCN2
30 11.51 TGFBR2 TGFB1 CCN2
31 11.48 TNFRSF1B IL4 CSF1
32 11.1 ITGA6 IL4 HLA-DRB1 HLA-DQB1 CSF1 CD36
33 11.09 TGFB1 IL4 HLA-DRB1 CSF1
34 10.93 TGFBR2 TGFB1 IL4
35 10.74 TGFB1 IL4
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 plasma membrane GO:0005886 10.07 TNFRSF1B TGFBR2 TGFB1 NTRK1 MIF ITGB4
2 extracellular region GO:0005576 10.06 TNFRSF1B TGFB1 RNASE3 PRG2 NGF MIF
3 extracellular space GO:0005615 9.7 TGFB1 SERPINH1 RNASE3 NGF MIF IL4
4 receptor complex GO:0043235 9.62 TGFBR2 NTRK1 ITGB4 CD36
5 membrane raft GO:0045121 9.55 TNFRSF1B TGFBR2 SERPINH1 CD79A CD36
6 endocytic vesicle membrane GO:0030666 9.54 HLA-DRB1 HLA-DQB1 CD36
7 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 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.06 TGFBR2 TGFB1 IL4 CSF1 CCN2
2 immune system process GO:0002376 10.06 PRG2 MIF HLA-DRB1 HLA-DQB1 CSF1 CD79A
3 neutrophil degranulation GO:0043312 10 TNFRSF1B RNASE3 PRG2 MIF CD36
4 positive regulation of cell migration GO:0030335 9.93 TGFB1 ITGA6 IL4 CSF1
5 inflammatory response GO:0006954 9.93 TNFRSF1B TGFB1 MIF CSF1 CIITA
6 positive regulation of protein phosphorylation GO:0001934 9.87 TGFB1 NTRK1 HLA-DRB1 CCN2
7 cytokine-mediated signaling pathway GO:0019221 9.85 TNFRSF1B TGFB1 IL4 CSF1 CD36
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.84 TGFB1 MIF CD36
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.83 TGFB1 NGF MIF
10 positive regulation of gene expression GO:0010628 9.8 TGFB1 NGF IL4 CSF1 CD36 CCN2
11 B cell differentiation GO:0030183 9.79 NTRK1 IL4 CD79A
12 response to wounding GO:0009611 9.78 TGFB1 ITGB4 CCN2
13 response to glucose GO:0009749 9.77 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 9.73 TNFRSF1B NTRK1 CSF1
16 immune response GO:0006955 9.7 TNFRSF1B PRG2 IL4 HLA-DRB1 HLA-DQB1 CIITA
17 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.67 HLA-DRB1 HLA-DQB1
18 pathway-restricted SMAD protein phosphorylation GO:0060389 9.66 TGFBR2 TGFB1
19 negative regulation of neuroinflammatory response GO:0150079 9.65 TNFRSF1B IL4
20 response to cholesterol GO:0070723 9.65 TGFBR2 TGFB1
21 nerve growth factor signaling pathway GO:0038180 9.64 NTRK1 NGF
22 hemidesmosome assembly GO:0031581 9.64 ITGB4 ITGA6
23 positive regulation of monocyte differentiation GO:0045657 9.63 HLA-DRB1 CSF1
24 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL4 CIITA
25 skin morphogenesis GO:0043589 9.62 ITGB4 ITGA6
26 cellular response to growth factor stimulus GO:0071363 9.62 TNFRSF1B TGFBR2 TGFB1 NTRK1
27 positive regulation of Ras protein signal transduction GO:0046579 9.58 NTRK1 NGF CSF1
28 nail development GO:0035878 9.55 ITGB4 ITGA6
29 myeloid dendritic cell differentiation GO:0043011 9.54 TGFBR2 TGFB1 IL4
30 positive regulation of mononuclear cell migration GO:0071677 9.52 TGFB1 IL4
31 common-partner SMAD protein phosphorylation GO:0007182 9.51 TGFBR2 TGFB1
32 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.49 HLA-DRB1 HLA-DQB1
33 connective tissue development GO:0061448 9.48 TGFB1 CCN2
34 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.43 HLA-DRB1 HLA-DQB1
35 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.43 TGFB1 NTRK1 MIF HLA-DRB1 CD36 CCN2
36 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 9.67 TGFB1 MIF IL4 CSF1
2 insulin-like growth factor I binding GO:0031994 9.4 ITGB4 ITGA6
3 type I transforming growth factor beta receptor binding GO:0034713 9.32 TGFBR2 TGFB1
4 MHC class II receptor activity GO:0032395 9.26 HLA-DRB1 HLA-DQB1
5 neuregulin binding GO:0038132 9.16 ITGB4 ITGA6
6 growth factor activity GO:0008083 9.02 TGFB1 NGF IL4 CSF1 CCN2
7 type III transforming growth factor beta receptor binding GO:0034714 8.96 TGFBR2 TGFB1

Sources for Ocular Cicatricial Pemphigoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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