MCID: CCT002
MIFTS: 53

Cicatricial Pemphigoid

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

Aliases & Classifications for Cicatricial Pemphigoid

MalaCards integrated aliases for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 12 77 54 15
Benign Mucous Membrane Pemphigoid with Ocular Involvement 12 74
Pemphigoid, Benign Mucous Membrane 45 74
Benign Mucous Membrane Pemphigoid 12 54
Cicatricial Pemphigoid with Ocular Involvement 12
Benign Mucosal Pemphigoid 54
Pemphigoid Cicatricial 56
Ocular Pemphigoid 12
Ocular Pemphigus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11656
ICD9CM 36 694.6 694.61
MeSH 45 D010390
NCIt 51 C34907
SNOMED-CT 69 34250006 76092003
ICD10 34 H13.3 L12.1

Summaries for Cicatricial Pemphigoid

NIH Rare Diseases : 54 Cicatricial 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 gestationis. An important gene associated with Cicatricial Pemphigoid is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Mycophenolic acid and rituximab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and salivary gland, and related phenotypes are craniofacial and digestive/alimentary

Disease Ontology : 12 A bullous skin disease characterized by skin lesions and scaring and located in mucous membranes and located in skin.

Wikipedia : 77 Cicatricial pemphigoid is a rare chronic autoimmune subepithelial blistering disease characterized by... 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 94)
# Related Disease Score Top Affiliating Genes
1 ocular cicatricial pemphigoid 33.2 CD79A ITGA6 ITGB4 SERPINH1 TNFRSF1B
2 pemphigoid gestationis 30.6 COL17A1 DST
3 pemphigus 30.5 CD79A COL17A1 DST
4 epidermolysis bullosa acquisita 30.3 COL17A1 DST ITGB4 LAMA3 SERPINH1
5 linear iga disease 30.2 CD79A COL17A1 DST ITGB4
6 epidermolysis bullosa 29.8 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
7 bullous pemphigoid 29.6 CD79A COL17A1 DST ITGA6 ITGB4 LAMA3
8 brunsting-perry syndrome 12.2
9 pseudomembranous conjunctivitis 11.2
10 rheumatoid arthritis 10.4
11 severe cutaneous adverse reaction 10.4
12 arthritis 10.4
13 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.4
14 pemphigus vulgaris, familial 10.3
15 cataract 10.3
16 pemphigus vulgaris 10.3
17 entropion 10.3
18 gingivitis 10.3
19 neurotic excoriation 10.2 COL17A1 DST
20 lichen planus 10.2
21 epidermolysis bullosa simplex with muscular dystrophy 10.2 COL17A1 DST
22 conjunctivitis 10.2
23 lichen disease 10.2 COL17A1 DST
24 maternal uniparental disomy of chromosome 1 10.2 LAMA3 LAMC2
25 ecthyma 10.2 COL17A1 DST
26 kindler syndrome 10.2 DST ITGB4
27 paraneoplastic pemphigus 10.1 COL17A1 DST
28 epidermolysis bullosa, junctional, herlitz type 10.1 LAMA3 LAMC2
29 keratitis, hereditary 10.1
30 erythema multiforme 10.1
31 lymphoma 10.1
32 corneal ulcer 10.1
33 lupus erythematosus 10.1
34 lichen sclerosus 10.1
35 bullous skin disease 10.1 COL17A1 DST LAMA3
36 epidermolysis bullosa with pyloric atresia 10.1 ITGA6 ITGB4
37 autoimmune disease of skin and connective tissue 10.1 COL17A1 DST LAMA3
38 renal cell carcinoma, nonpapillary 10.1
39 cholangitis, primary sclerosing 10.1
40 sclerosing cholangitis 10.1
41 squamous cell carcinoma 10.1
42 thyroid cancer 10.1
43 periodontal disease 10.1
44 cholangitis 10.1
45 cellulitis 10.1 COL17A1 DST LAMA3
46 lichen planus pemphigoides 10.1 COL17A1 DST ITGB4
47 epidermolysis bullosa simplex 10.1 COL17A1 DST ITGB4
48 autoimmune disease of musculoskeletal system 10.0 COL17A1 DST
49 aplasia cutis congenita 10.0 ITGA6 ITGB4
50 ige responsiveness, atopic 10.0

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

MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 ITGA6 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B
2 digestive/alimentary MP:0005381 9.73 ITGA6 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B
3 immune system MP:0005387 9.7 CD79A CFP ITGA6 ITGB4 LAMA3 LAMC2
4 renal/urinary system MP:0005367 9.35 CD79A ITGA6 ITGB4 LAMC2 TNFRSF1B
5 respiratory system MP:0005388 9.1 ITGA6 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B

Drugs & Therapeutics for Cicatricial Pemphigoid

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 3 24280-93-1 446541
2
rituximab Approved Phase 3,Phase 1,Phase 2 174722-31-7 10201696
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4 Anti-Infective Agents Phase 3
5 Antibiotics, Antitubercular Phase 3
6 Antitubercular Agents Phase 3
7 Anti-Bacterial Agents Phase 3
8 Immunologic Factors Phase 3,Phase 1,Phase 2
9 Immunosuppressive Agents Phase 3
10 Antirheumatic Agents Phase 3,Phase 1,Phase 2
11 Antineoplastic Agents, Immunological Phase 3,Phase 1,Phase 2
12 Alkylating Agents Phase 3
13 Antineoplastic Agents, Alkylating Phase 3
14
Infliximab Approved Phase 1, Phase 2 170277-31-3
15
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
17 Pharmaceutical Solutions Phase 1, Phase 2
18 Dermatologic Agents Phase 1, Phase 2,Phase 2
19 Vitamin B Complex Phase 1, Phase 2
20 Vitamins Phase 1, Phase 2
21 Photosensitizing Agents Phase 1, Phase 2
22 Trace Elements Phase 1, Phase 2
23 Micronutrients Phase 1, Phase 2
24 Vitamin B2 Phase 1, Phase 2
25 Folate Phase 1, Phase 2
26 Nutrients Phase 1, Phase 2
27 Vitamin B9 Phase 1, Phase 2
28 Gastrointestinal Agents Phase 1, Phase 2
29 Antibodies Phase 1
30 Immunoglobulins Phase 1
31
Formaldehyde Approved, Vet_approved Not Applicable 50-00-0 712
32 Autoantibodies

Interventional clinical trials:

(show all 17)
# 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 Clinical 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
3 Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
4 Use of Cross-linked Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
5 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
6 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
7 The Improvement of Limbal Epithelial Culture Technique by Using Collagenase to Isolate Limbal Stem Cells Unknown status NCT02202642 Phase 1
8 Topical Infliximab for Sterile Corneal Melt Recruiting NCT02987686 Phase 1 Topical Infliximab
9 Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory Conditions Withdrawn NCT02042027 Phase 1 Gamunex-C
10 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079 Not Applicable
11 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Completed NCT00357071
12 Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Completed NCT00116090
13 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
14 Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069 Not Applicable
15 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
16 Histology Evaluation of Radiofrequency Ablation Not yet recruiting NCT03947723 Not Applicable
17 Implantable Intraocular Pressure Sensor for Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548 Not Applicable

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

MalaCards organs/tissues related to Cicatricial Pemphigoid:

42
Skin, Eye, Salivary Gland, Testes, Lung, Colon, Pancreas

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

20
Skin, Mucous Membranes

Publications for Cicatricial Pemphigoid

Articles related to Cicatricial Pemphigoid:

(show top 50) (show all 450)
# Title Authors Year
1
A conjunctival-sparing surgical technique for lower eyelid cicatricial entropion repair in ocular cicatricial pemphigoid. ( 30732510 )
2019
2
Oesophageal cicatricial pemphigoid. ( 30292641 )
2018
3
Efficacy and adverse reactions of methotrexate in the treatment of ocular cicatricial pemphigoid: A case series study. ( 30235689 )
2018
4
Ocular cicatricial pemphigoid. ( 30222656 )
2018
5
A case of antiepiligrin cicatricial pemphigoid with extensive cutaneous erosions mimicking pemphigus vulgaris. ( 29930192 )
2018
6
Adrenocorticotropic hormone analogue as novel treatment regimen in ocular cicatricial pemphigoid. ( 29780948 )
2018
7
Management of Ocular Cicatricial Pemphigoid with Intravenous Immunoglobulin Monotherapy. ( 29517945 )
2018
8
Atopy in Patients With Ocular Cicatricial Pemphigoid. ( 29341971 )
2018
9
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. ( 29077176 )
2018
10
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
11
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
12
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
13
Autoimmune bullous diseases with skin and eye involvement: Cicatricial pemphigoid, pemphigus vulgaris, and pemphigus paraneoplastica. ( 26903186 )
2016
14
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
15
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
16
NGF Modulates trkANGFR/p75NTR in αSMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
17
Esophageal Cicatricial Pemphigoid as an Isolated Involvement Treated with Mycophenolate Mofetil. ( 26557393 )
2015
18
Cicatricial pemphigoid vegetans in a Polish woman. ( 26147045 )
2015
19
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
20
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
21
Brunsting-Perry-type cicatricial pemphigoid with IgG autoantibodies to LAD-1. ( 24124894 )
2014
22
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
23
Remission of anti-epiligrin cicatricial pemphigoid after excision of cervical adenocarcinoma. ( 24766621 )
2014
24
A case of cicatricial pemphigoid of the larynx successfully treated with plasmapheresis therapy. ( 24170474 )
2013
25
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
26
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
27
Hypopharyngeal presentation of cicatricial pemphigoid: videofluorographic and direct laryngoscopic findings. ( 23442384 )
2013
28
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
29
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
30
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
31
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
32
Ocular and oral mucous membrane pemphigoid (cicatricial pemphigoid). ( 22137224 )
2012
33
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
34
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
35
Cicatricial pemphigoid of the scalp mimicking discoid lupus erythematosus. ( 21920254 )
2011
36
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
37
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
38
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
39
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. ( 21180281 )
2010
40
A tooth for an eye: cicatricial pemphigoid and the osteo-odonto-keratoprosthesis. ( 20956670 )
2010
41
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
42
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
43
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. ( 20537062 )
2010
44
Transnasal endoscopy in a patient with cicatricial pemphigoid. ( 20524762 )
2010
45
Recalcitrant cicatricial pemphigoid treated with the anti-TNF-alpha agent etanercept. ( 20120429 )
2010
46
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
47
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
48
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
49
Multiple mucosal involvement in cicatricial pemphigoid. ( 20161882 )
2009
50
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2
2
Show member pathways
12.71 ITGA6 ITGB4 LAMA3 LAMC2
3
Show member pathways
12.63 CD79A COL17A1 ITGA6 ITGB4 LAMA3 LAMC2
4
Show member pathways
12.6 ITGA6 ITGB4 LAMA3 LAMC2
5
Show member pathways
12.49 ITGA6 ITGB4 LAMA3 LAMC2
6
Show member pathways
12.25 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
7
Show member pathways
12.22 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
8
Show member pathways
12.19 ITGA6 ITGB4 LAMA3 LAMC2
9
Show member pathways
11.97 ITGA6 LAMA3 LAMC2
10
Show member pathways
11.96 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2
11
Show member pathways
11.86 ITGA6 ITGB4 LAMA3 LAMC2
12
Show member pathways
11.82 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
13 11.62 ITGA6 LAMA3 LAMC2
14 11.38 LAMA3 LAMC2
15 11.38 ITGA6 ITGB4
16 11.19 ITGA6 ITGB4
17 11.09 ITGB4 LAMA3
18 11.07 LAMC2 TNFRSF1B
19 10.99 COL17A1 ITGA6 ITGB4
21 10.71 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2

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 endoplasmic reticulum lumen GO:0005788 9.61 CFP COL17A1 SERPINH1
2 collagen-containing extracellular matrix GO:0062023 9.55 CFP COL17A1 LAMA3 LAMC2 SERPINH1
3 membrane raft GO:0045121 9.54 CD79A SERPINH1 TNFRSF1B
4 cell leading edge GO:0031252 9.4 DST ITGB4
5 basement membrane GO:0005604 9.35 COL17A1 DST ITGA6 LAMA3 LAMC2
6 basal plasma membrane GO:0009925 9.32 DST ITGA6
7 integrin complex GO:0008305 9.26 ITGA6 ITGB4
8 hemidesmosome GO:0030056 8.92 COL17A1 DST ITGA6 ITGB4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.61 COL17A1 LAMA3 LAMC2
2 cell adhesion GO:0007155 9.55 DST ITGA6 ITGB4 LAMA3 LAMC2
3 cell-matrix adhesion GO:0007160 9.54 COL17A1 ITGA6 ITGB4
4 skin development GO:0043588 9.51 ITGA6 ITGB4
5 integrin-mediated signaling pathway GO:0007229 9.5 DST ITGA6 ITGB4
6 digestive tract development GO:0048565 9.49 ITGA6 ITGB4
7 cell motility GO:0048870 9.48 DST ITGB4
8 renal system development GO:0072001 9.46 ITGA6 ITGB4
9 amelogenesis GO:0097186 9.4 ITGA6 ITGB4
10 extracellular matrix organization GO:0030198 9.35 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2
11 nail development GO:0035878 9.26 ITGA6 ITGB4
12 hemidesmosome assembly GO:0031581 9.1 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.33 COL17A1 LAMA3 LAMC2
2 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Cicatricial Pemphigoid

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20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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