MCID: CCT002
MIFTS: 53

Cicatricial Pemphigoid

Categories: Eye diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cicatricial Pemphigoid

MalaCards integrated aliases for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 12 73 15 32
Benign Mucous Membrane Pemphigoid with Ocular Involvement 12 70
Pemphigoid, Benign Mucous Membrane 44 70
Benign Mucous Membrane Pemphigoid 12 20
Mucous Membrane Pemphigoid 20 17
Ocular Pemphigoid 12 32
Cicatricial Pemphigoid with Ocular Involvement 12
Cicatricial Pemphigoid Disease 20
Benign Mucosal Pemphigoid 20
Pemphigoid Cicatricial 54
Ocular Pemphigus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11656
ICD9CM 34 694.6 694.61
MeSH 44 D010390
NCIt 50 C34907
SNOMED-CT 67 34250006 76092003
ICD10 32 H13.3 L12.1
UMLS 70 C0030804 C0157721

Summaries for Cicatricial Pemphigoid

GARD : 20 Mucous membrane pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. Scarring of the affected mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5. Treatment is dependent on the person's specific symptoms.

MalaCards based summary : Cicatricial Pemphigoid, also known as benign mucous membrane pemphigoid with ocular involvement, is related to ocular cicatricial pemphigoid and pemphigoid. An important gene associated with Cicatricial Pemphigoid is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. The drugs Cyclophosphamide and rituximab have been mentioned in the context of this disorder. Affiliated tissues include mucous membranes, skin and eye, and related phenotypes are autoimmunity and oral mucosal blisters

Disease Ontology : 12 A pemphigoid that is characterized by skin lesions and scaring and located in mucous membranes and located in skin.

Wikipedia : 73 Mucous membrane pemphigoid is a rare chronic autoimmune subepithelial blistering disease characterized... more...

Related Diseases for Cicatricial Pemphigoid

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

(show top 50) (show all 346)
# Related Disease Score Top Affiliating Genes
1 ocular cicatricial pemphigoid 31.8 SERPINH1 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1
2 pemphigoid 31.2 ITGB4 ITGA6 IL4 HLA-DRB1 HLA-DQB1 DST
3 gingivitis 31.0 IL4 IL1B IL1A
4 pemphigoid gestationis 30.8 HLA-DRB1 DST COL17A1
5 pemphigus vulgaris, familial 30.7 IL1A HLA-DRB1 DST COL17A1
6 conjunctival disease 30.7 IL4 IL1B IL1A
7 chronic graft versus host disease 30.5 IL1A CD79A
8 keratopathy 30.5 NID1 IL4 IL1A
9 dermatitis herpetiformis 30.4 IL4 HLA-DQB1 CD79A
10 pemphigus foliaceus 30.4 HLA-DRB1 DST
11 keratoconjunctivitis sicca 30.3 IL4 IL1A CD79A
12 lichen planus pemphigoides 30.3 ITGB4 DST COL17A1
13 linear iga disease 30.3 LAD1 ITGB4 DST COL17A1 CD79A
14 periodontitis 30.3 IL4 IL1B IL1A
15 bullous skin disease 30.3 LAMA3 DST COL17A1
16 pemphigus 30.3 IL4 HLA-DRB1 HLA-DQB1 DST COL17A1 CD79A
17 contact dermatitis 30.3 IL4 IL1B IL1A
18 limbal stem cell deficiency 30.2 IL1B IL1A
19 autoimmune disease 30.2 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1 COL17A1
20 trachoma 30.1 IL4 HLA-DRB1 HLA-DQB1
21 epidermolysis bullosa 30.1 LAMC2 LAMA3 LAD1 ITGB4 ITGA6 DST
22 proteasome-associated autoinflammatory syndrome 1 30.0 IL4 IL1B IL1A
23 thyroiditis 30.0 IL4 IL1B HLA-DRB1
24 leprosy 3 30.0 IL4 IL1B HLA-DRB1
25 paraneoplastic pemphigus 30.0 HLA-DRB1 HLA-DQB1 DST COL17A1
26 epidermolysis bullosa acquisita 30.0 SERPINH1 LAMC2 LAMA3 LAD1 ITGB4 HLA-DRB1
27 uveitis 30.0 IL4 IL1B IL1A
28 aphthous stomatitis 30.0 IL4 IL1B IL1A HLA-DRB1
29 epidermolysis bullosa dystrophica 29.9 LAMC2 LAMA3 ITGB4 DST COL17A1
30 lichen planus 29.9 LAMC2 IL4 IL1B DST COL17A1
31 graft-versus-host disease 29.8 IL1B IL1A HLA-DRB1 HLA-DQB1
32 tetanus 29.7 IL4 IL1B IL1A CD79A
33 connective tissue disease 29.7 SERPINH1 IL4 IL1B IL1A HLA-DRB1
34 bullous pemphigoid 29.6 LAMC2 LAMA3 LAD1 ITGB4 ITGA6 IL4
35 arthritis 29.5 SERPINH1 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1
36 glomerulonephritis 29.1 NID1 IL1B CFP CD79A
37 rheumatoid arthritis 28.9 SERPINH1 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1
38 skin disease 28.6 LAMC2 LAMA3 LAD1 ITGB4 ITGA6 IL4
39 junctional epidermolysis bullosa 28.5 NID1 LAMC2 LAMA3 LAD1 ITGB4 ITGA6
40 brunsting-perry syndrome 11.4
41 pseudomembranous conjunctivitis 11.1
42 conjunctivitis 10.7
43 yemenite deaf-blind hypopigmentation syndrome 10.6
44 entropion 10.6
45 erythema multiforme 10.5
46 oral lichen planus 10.5
47 severe cutaneous adverse reaction 10.4
48 erythema multiforme major 10.4
49 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.4
50 chronic conjunctivitis 10.4

Comorbidity relations with Cicatricial Pemphigoid via Phenotypic Disease Network (PDN):


Corneal Ulcer

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



Diseases related to Cicatricial Pemphigoid

Symptoms & Phenotypes for Cicatricial Pemphigoid

Human phenotypes related to Cicatricial Pemphigoid:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 autoimmunity 31 hallmark (90%) HP:0002960
2 oral mucosal blisters 31 hallmark (90%) HP:0200097
3 atypical scarring of skin 31 frequent (33%) HP:0000987
4 gingivitis 31 frequent (33%) HP:0000230
5 corneal opacity 31 occasional (7.5%) HP:0007957
6 blindness 31 occasional (7.5%) HP:0000618

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.65 CD79A SERPINH1
2 Decreased viability GR00381-A-1 9.65 CD79A HLA-DQB1 SERPINH1
3 Decreased viability GR00381-A-3 9.65 CD79A HLA-DQB1 SERPINH1
4 Decreased viability GR00386-A-1 9.65 CD79A
5 Decreased viability GR00402-S-2 9.65 HLA-DQB1
6 Increased shRNA abundance GR00327-A 9.02 CD79A DST HLA-DQB1 IL4 SERPINH1

MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 IL1B IL4 ITGA6 ITGB4 LAMA3 LAMC2
2 digestive/alimentary MP:0005381 9.7 HLA-DQB1 IL4 ITGA6 ITGB4 LAMA3 LAMC2
3 immune system MP:0005387 9.65 CD79A CFP HLA-DQB1 IL1A IL1B IL4
4 respiratory system MP:0005388 9.17 HLA-DQB1 IL4 ITGA6 ITGB4 LAMA3 LAMC2

Drugs & Therapeutics for Cicatricial Pemphigoid

Drugs for 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
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
2
rituximab Approved Phase 3 174722-31-7 10201696
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
6
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
8
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
9
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
10
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
11
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
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 Folic Acid Antagonists Phase 2, Phase 3
19 Immunoglobulin A Phase 2, Phase 3
20 Vitamin B9 Phase 2, Phase 3
21 Antiemetics Phase 2, Phase 3
22 Antiparasitic Agents Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24 Triamcinolone diacetate Phase 2, Phase 3
25 Triamcinolone hexacetonide Phase 2, Phase 3
26 Anti-Bacterial Agents Phase 2, Phase 3
27 Folate Phase 2, Phase 3
28 Antibiotics, Antitubercular Phase 2, Phase 3
29 Neuroprotective Agents Phase 2, Phase 3
30 Methylprednisolone Acetate Phase 2, Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Antitubercular Agents Phase 2, Phase 3
33 Antineoplastic Agents, Hormonal Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Vitamin B Complex Phase 2, Phase 3
36 Protective Agents Phase 2, Phase 3
37 Antimalarials Phase 2, Phase 3
38 triamcinolone acetonide Phase 2, Phase 3
39 Antiprotozoal Agents Phase 2, Phase 3
40 glucocorticoids Phase 2, Phase 3
41 Anti-Infective Agents Phase 2, Phase 3
42 Anti-Inflammatory Agents Phase 2, Phase 3
43 Immunologic Factors 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 Micronutrients Phase 1, Phase 2
48 Trace Elements Phase 1, Phase 2
49 Nutrients 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 Proteomic and Metabolomic Lacrimal Fingerprint in Diverse Pathologies of the Ocular Surface Recruiting NCT04198740
10 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
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 Cicatricial Pemphigoid

Cochrane evidence based reviews: pemphigoid, benign mucous membrane

Genetic Tests for Cicatricial Pemphigoid

Anatomical Context for Cicatricial Pemphigoid

The Foundational Model of Anatomy Ontology organs/tissues related to Cicatricial Pemphigoid:

19
Mucous Membranes, Skin

MalaCards organs/tissues related to Cicatricial Pemphigoid:

40
Eye, Skin, Lung, Salivary Gland, Colon, Pancreas, Endothelial

Publications for Cicatricial Pemphigoid

Articles related to Cicatricial Pemphigoid:

(show top 50) (show all 919)
# Title Authors PMID Year
1
Brunsting-Perry cicatricial pemphigoid associated with autoantibodies to the C-terminal domain of BP180. 54 61
18637895 2008
2
Antigen specificity in subsets of mucous membrane pemphigoid. 54 61
16810295 2006
3
Autoimmune subepidermal blistering diseases in Uganda: correlation of autoantibody class with age of patients. 54 61
16961507 2006
4
Cicatricial pemphigoid with autoantibodies against the laminin 5 gamma 2 subunit. 54 61
15908306 2005
5
A comparative study of antibody titers of blister fluid and serum in patients with subepidermal immunobullous diseases. 54 61
15117364 2004
6
Clinical criteria for the diagnosis of bullous pemphigoid: a reevaluation according to immunoblot analysis of patient sera. 54 61
14730231 2004
7
Cicatricial pemphigoid sera specifically react with the most C-terminal portion of BP180. 54 61
12788530 2003
8
Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen. 61 54
12746470 2003
9
Pemphigoid gestationis with predominant involvement of oral mucous membranes and IgA autoantibodies targeting the C-terminus of BP180. 54 61
12399776 2002
10
Cicatricial pemphigoid with circulating autoantibodies to beta4 integrin, bullous pemphigoid 180 and bullous pemphigoid 230. 54 61
11899157 2001
11
Cicatricial pemphigoid: IgA and IgG autoantibodies target epitopes on both intra- and extracellular domains of bullous pemphigoid antigen 180. 61 54
11736901 2001
12
IgG, IgA and IgE autoantibodies against the ectodomain of BP180 in patients with bullous and cicatricial pemphigoid and linear IgA bullous dermatosis. 61 54
10951144 2000
13
Acquired skin disease of hemidesmosomes. 61 54
10379705 1999
14
BP180/type XVII collagen: its role in acquired and inherited disorders or the dermal-epidermal junction. 61 54
10335914 1999
15
Immunoreactivity of bullous pemphigoid (BP) autoantibodies against the NC16A and C-terminal domains of the 180 kDa BP antigen (BP180): immunoblot analysis and enzyme-linked immunosorbent assay using BP180 recombinant proteins. 54 61
9767278 1998
16
Epidermal adhesion molecules and basement membrane components as target structures of autoimmunity. 61 54
9672190 1998
17
Four Japanese patients with cicatricial pemphigoid showing both IgG and IgA antibodies against the 180 kDa bullous pemphigoid antigen. 54 61
9292089 1997
18
Identification of a 168-kDa mucosal antigen in a subset of patients with cicatricial pemphigoid. 54 61
8752852 1996
19
Cicatricial pemphigoid autoantibodies react with multiple sites on the BP180 extracellular domain. 61 54
8592065 1996
20
Anti-basement membrane autoantibodies in patients with anti-epiligrin cicatricial pemphigoid bind the alpha subunit of laminin 5. 61 54
7561156 1995
21
Epiligrin is decreased in papulonodular basal cell carcinoma tumor nest basement membranes and the extracellular matrix of transformed human epithelial cells. 54 61
7551559 1995
22
Autoantibodies from patients with cicatricial pemphigoid target different sites in epidermal basement membrane. 61 54
7861004 1995
23
Ultrastructural localization of binding sites of sera from patients with linear IgA bullous dermatosis. 61 54
8534126 1995
24
The major cicatricial pemphigoid antigen is a 180-kD protein that shows immunologic cross-reactivities with the bullous pemphigoid antigen. 61 54
1629629 1992
25
Identification of cicatricial pemphigoid antigens. 61 54
1739288 1992
26
Cicatricial pemphigoid antigen differs from bullous pemphigoid antigen by its exclusive extracellular localization: a study by indirect immunoelectronmicroscopy. 61 54
2056190 1991
27
Cicatricial pemphigoid. Identification of two distinct sets of epidermal antigens by IgA and IgG class circulating autoantibodies. 54 61
2241199 1990
28
Cicatricial pemphigoid with linear IgA deposit. 61 54
2199546 1990
29
Direct Injection of 5-Fluorouracil Improves Outcomes in Cicatrizing Conjunctival Disorders Secondary to Systemic Disease. 61
32427724 2021
30
Ocular Cicatricial Pemphigoid, Sjögren's Syndrome, and Hashimoto's Thyroiditis as a Multiple Autoimmune Syndrome: A case report. 61
33601905 2021
31
Rituximab as an Adjuvant Rescue Treatment for Ocular Cicatricial Pemphigoid. 61
33591038 2021
32
Ocular Cicatricial Pemphigoid: Methotrexate as an Initial Treatment? 61
33454207 2021
33
A Case of Black Fungal Keratitis Caused by Biatriospora mackinnonii. 61
33528226 2021
34
Transmucosal Boston Keratoprosthesis Type I in a Patient With Advanced Ocular Cicatricial Pemphigoid. 61
32881715 2020
35
Oral Mucosal Epithelial Transplantation and Limbal-Rigid Contact Lens: A Therapeutic Modality for the Treatment of Severe Ocular Surface Disorders. 61
33181721 2020
36
Long-term outcomes of cultivated cell sheet transplantation for treating total limbal stem cell deficiency. 61
32599277 2020
37
Ocular cicatricial pemphigoid (Review). 61
32905166 2020
38
Ocular cicatricial pemphigoid treated with intramuscular corticotropin injections. 61
32382644 2020
39
Ocular cicatricial pemphigoid. 61
32685792 2020
40
[Ocular Cicatricial Pemphigoid - a Case Report]. 61
32330983 2020
41
Cicatricial pemphigoid presenting as desquamative gingivitis. 61
32257009 2020
42
[Osteo-odonto-keratoprosthesis: a tooth to regain sight]. 61
32157841 2020
43
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. 61
30732510 2020
44
Endoplasmic reticulum stress promotes inflammation-mediated proteolytic activity at the ocular surface. 61
32042069 2020
45
Clinical Outcomes From Cultivated Allogenic Stem Cells vs. Oral Mucosa Epithelial Transplants in Total Bilateral Stem Cells Deficiency. 61
32133365 2020
46
Clinical Characteristics and Outcomes of Ocular Cicatricial Pemphigoid: A Cohort Study and Literature Review. 61
31356420 2019
47
Microbial Keratitis and Ocular Surface Disease: A 5-Year Study of the Microbiology, Risk Factors and Clinical Outcomes in Sydney, Australia. 61
31189397 2019
48
Contribution to oral and maxillary surgery and surgical technique of osteo-odontokeratoprosthesis in Japan. 61
31378404 2019
49
Bilateral keratoprostheses in a patient with ocular mucous membrane pemphigoid. 61
32045155 2019
50
Clinical Outcome of Autologous Cultivated Oral Mucosal Epithelial Transplantation in Ocular Surface Reconstruction. 61
31356413 2019

Variations for Cicatricial Pemphigoid

Expression for Cicatricial Pemphigoid

Search GEO for disease gene expression data for Cicatricial Pemphigoid.

Pathways for Cicatricial Pemphigoid

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 LAMC2 LAMA3 ITGB4 ITGA6 IL4 IL1B
2
Show member pathways
12.92 LAMC2 LAMA3 ITGB4 ITGA6 COL17A1 CD79A
3
Show member pathways
12.84 LAMC2 LAMA3 ITGB4 ITGA6 IL4
4
Show member pathways
12.72 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1
5
Show member pathways
12.68 SERPINH1 LAMC2 LAMA3 ITGB4 ITGA6 DST
6
Show member pathways
12.53 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1
7
Show member pathways
12.43 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1
8
Show member pathways
12.41 SERPINH1 NID1 LAMC2 LAMA3 ITGB4 ITGA6
9
Show member pathways
12.33 NID1 LAMC2 LAMA3 ITGB4 ITGA6
10 12.09 IL1B IL1A HLA-DRB1 HLA-DQB1
11
Show member pathways
12 LAMC2 LAMA3 ITGB4 ITGA6
12 11.88 IL4 IL1B IL1A
13 11.86 IL4 IL1B IL1A
14
Show member pathways
11.85 IL4 IL1B HLA-DRB1
15 11.79 LAMC2 LAMA3 IL1B
16 11.73 IL1B IL1A HLA-DRB1 HLA-DQB1
17 11.72 LAMC2 LAMA3 ITGA6
18 11.52 NID1 LAMC2 LAMA3
19
Show member pathways
11.5 LAMC2 LAMA3 ITGA6 IL4 IL1B IL1A
20 11.43 ITGA6 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1
21 11.39 IL4 IL1B IL1A
22 11.16 ITGB4 ITGA6 IL1A COL17A1
23 11.09 IL4 IL1B IL1A HLA-DRB1
24 10.76 LAMC2 LAMA3 ITGB4 ITGA6 IL4 IL1B
25 10.67 IL4 IL1B
26 10.41 IL1B IL1A

GO Terms for Cicatricial Pemphigoid

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 SERPINH1 LAMC2 IL4 IL1B IL1A HLA-DRB1
2 extracellular region GO:0005576 9.91 NID1 LAMC2 LAMA3 LAD1 IL4 IL1B
3 collagen-containing extracellular matrix GO:0062023 9.63 SERPINH1 NID1 LAMC2 LAMA3 COL17A1 CFP
4 MHC class II protein complex GO:0042613 9.37 HLA-DRB1 HLA-DQB1
5 basement membrane GO:0005604 9.17 NID1 LAMC2 LAMA3 LAD1 ITGB4 DST
6 hemidesmosome GO:0030056 9.13 ITGB4 DST COL17A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 NID1 LAMC2 LAMA3 ITGB4 ITGA6 DST
2 positive regulation of cell migration GO:0030335 9.81 LAMC2 ITGA6 IL4 IL1B
3 cell-matrix adhesion GO:0007160 9.71 NID1 ITGB4 COL17A1
4 immune response GO:0006955 9.63 IL4 IL1B IL1A HLA-DRB1 HLA-DQB1 CFP
5 epidermis development GO:0008544 9.62 LAMC2 LAMA3 HLA-DRB1 COL17A1
6 integrin-mediated signaling pathway GO:0007229 9.56 LAMA3 ITGB4 ITGA6 DST
7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.55 HLA-DRB1 HLA-DQB1
8 skin morphogenesis GO:0043589 9.52 ITGB4 ITGA6
9 nail development GO:0035878 9.49 ITGB4 ITGA6
10 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.48 HLA-DRB1 HLA-DQB1
11 positive regulation of immature T cell proliferation in thymus GO:0033092 9.46 IL1B IL1A
12 extracellular matrix organization GO:0030198 9.43 NID1 LAMC2 LAMA3 ITGB4 ITGA6 COL17A1
13 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.4 HLA-DRB1 HLA-DQB1
14 fever generation GO:0001660 9.37 IL1B IL1A
15 hemidesmosome assembly GO:0031581 9.1 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.37 IL1B IL1A
2 insulin-like growth factor I binding GO:0031994 9.32 ITGB4 ITGA6
3 MHC class II receptor activity GO:0032395 9.26 HLA-DRB1 HLA-DQB1
4 integrin binding GO:0005178 9.26 LAMA3 ITGB4 IL1B DST
5 neuregulin binding GO:0038132 9.16 ITGB4 ITGA6
6 extracellular matrix structural constituent GO:0005201 8.92 NID1 LAMC2 LAMA3 COL17A1

Sources for 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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