MCID: CCT002
MIFTS: 54

Cicatricial Pemphigoid

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Cicatricial Pemphigoid

MalaCards integrated aliases for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 12 72 49 14
Benign Mucous Membrane Pemphigoid with Ocular Involvement 12 69
Pemphigoid, Benign Mucous Membrane 41 69
Ocular Pemphigoid 12 55
Cicatricial Pemphigoid with Ocular Involvement 12
Benign Mucous Membrance Pemphigoid 49
Benign Mucous Membrane Pemphigoid 12
Benign Mucosal Pemphigoid 49
Pemphigoid Cicatricial 51
Ocular Pemphigus 12

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11656
ICD10 32 L12.1 H13.3
ICD9CM 34 694.6 694.61
MeSH 41 D010390
NCIt 46 C34907
Orphanet 55 ORPHA99922
UMLS via Orphanet 70 C0157721
ICD10 via Orphanet 33 L12+ H13.3*

Summaries for Cicatricial Pemphigoid

NIH Rare Diseases : 49 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. Last updated: 11/14/2014

MalaCards based summary : Cicatricial Pemphigoid, also known as benign mucous membrane pemphigoid with ocular involvement, is related to ocular cicatricial pemphigoid and pemphigus. An important gene associated with Cicatricial Pemphigoid is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Cell junction organization. The drugs rituximab and Mycophenolate mofetil have been mentioned in the context of this disorder. Affiliated tissues include mucous membranes, skin and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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

Wikipedia : 72 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... 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 105)
# Related Disease Score Top Affiliating Genes
1 ocular cicatricial pemphigoid 33.2 CD79A ITGB4 SERPINH1 TNFRSF1B
2 pemphigus 30.4 CD79A COL17A1 DST
3 pemphigoid gestationis 30.3 COL17A1 DST
4 linear iga disease 29.9 CD79A COL17A1 DST ITGB4
5 epidermolysis bullosa acquisita 29.8 CD79A COL17A1 DST ITGB4 LAMA3
6 epidermolysis bullosa 29.8 COL17A1 DST ITGB4 LAMA3 LAMC2
7 bullous pemphigoid 29.5 CD79A COL17A1 DST ITGB4 LAMA3 LAMC2
8 herpes gestationis 29.1 CD79A CFP COL17A1 DST
9 brunsting-perry syndrome 11.7
10 neurotic excoriation 10.4 COL17A1 DST
11 epidermolysis bullosa simplex with muscular dystrophy 10.4 COL17A1 DST
12 ecthyma 10.3 COL17A1 DST
13 kindler syndrome 10.3 DST ITGB4
14 maternal uniparental disomy of chromosome 1 10.3 LAMA3 LAMC2
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
16 gingivitis 10.3
17 laryngitis 10.3
18 rheumatoid arthritis 10.2
19 severe cutaneous adverse reaction 10.2
20 arthritis 10.2
21 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
22 cervix disease 10.2 CD79A SERPINH1
23 vaginal disease 10.2 CD79A SERPINH1
24 epidermolysis bullosa, junctional, herlitz type 10.2 LAMA3 LAMC2
25 endocardium disease 10.2 CD79A SERPINH1
26 paraneoplastic pemphigus 10.2 COL17A1 DST
27 cataract 10.2
28 mucositis 10.2
29 esophagitis 10.2
30 lichen planus pemphigoides 10.1 COL17A1 DST ITGB4
31 epidermolysis bullosa junctionalis with pyloric atresia 10.1 COL17A1 DST ITGB4
32 goodpasture syndrome 10.1 CD79A NID1
33 epidermolysis bullosa simplex 10.1 COL17A1 DST
34 pemphigus vulgaris, familial 10.1
35 pemphigus vulgaris 10.1
36 entropion 10.1
37 lichen disease 10.1 CD79A COL17A1 DST
38 hypersensitivity reaction disease 10.1 CD79A COL17A1 DST
39 diffuse glomerulonephritis 10.1 CD79A CFP
40 acute poststreptococcal glomerulonephritis 10.1 CD79A CFP
41 conjunctivitis 10.0
42 pyloric atresia 10.0 COL17A1 ITGB4 LAMC2
43 keratitis, hereditary 10.0
44 erythema multiforme 10.0
45 lymphoma 10.0
46 corneal ulcer 10.0
47 lupus erythematosus 10.0
48 lichen sclerosus 10.0
49 rhinoscleroma 9.9 CD79A TNFRSF1B
50 anterior scleritis 9.9 CD79A TNFRSF1B

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

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

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 ITGB4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 ITGB4 LAMA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 NID1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 LAMA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 ITGB4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.72 ITGB4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 LAMA3 NID1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 ITGB4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.72 ITGB4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.72 LAMA3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.72 ITGB4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 NID1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 LAMA3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 ITGB4 LAMA3 NID1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 ITGB4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.72 LAMA3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 LAMA3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 NID1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.72 NID1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 LAMA3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 ITGB4

MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B
2 digestive/alimentary MP:0005381 9.35 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B
3 respiratory system MP:0005388 9.02 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B

Drugs & Therapeutics for Cicatricial Pemphigoid

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3,Phase 1,Phase 2 174722-31-7 10201696
2
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 3 24280-93-1 446541
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5 Antirheumatic Agents Phase 3,Phase 1,Phase 2
6 Immunosuppressive Agents Phase 3
7 Anti-Bacterial Agents Phase 3
8 Antibiotics, Antitubercular Phase 3
9 Anti-Infective Agents Phase 3
10 Antitubercular Agents Phase 3
11 Alkylating Agents Phase 3
12
Infliximab Approved Phase 1, Phase 2 170277-31-3
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
14
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
15 Dermatologic Agents Phase 1, Phase 2
16 Micronutrients Phase 1, Phase 2
17 Pharmaceutical Solutions Phase 1, Phase 2
18 Photosensitizing Agents Phase 1, Phase 2
19 Trace Elements Phase 1, Phase 2
20 Vitamin B Complex Phase 1, Phase 2
21 Vitamins Phase 1, Phase 2
22 Gastrointestinal Agents Phase 1, Phase 2
23 Folate Nutraceutical Phase 1, Phase 2
24 Vitamin B2 Nutraceutical Phase 1, Phase 2
25 Vitamin B9 Nutraceutical Phase 1, Phase 2
26 Antibodies Phase 1
27 Immunoglobulins Phase 1
28 Autoantibodies

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Recruiting 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 Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Completed NCT00116090
11 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Recruiting NCT02874079
12 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
13 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071
14 Implantable Intraocular Pressure Sensor for 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:

18
Mucous Membranes, Skin

MalaCards organs/tissues related to Cicatricial Pemphigoid:

38
Skin, Eye, Testes, Lung, Neutrophil, T Cells, Pancreas

Publications for Cicatricial Pemphigoid

Articles related to Cicatricial Pemphigoid:

(show top 50) (show all 435)
# Title Authors Year
1
Atopy in Patients With Ocular Cicatricial Pemphigoid. ( 29341971 )
2018
2
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. ( 29077176 )
2017
3
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
4
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
5
Autoimmune bullous diseases with skin and eye involvement: Cicatricial pemphigoid, pemphigus vulgaris, and pemphigus paraneoplastica. ( 26903186 )
2016
6
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
7
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
8
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
9
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
10
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
11
Esophageal Cicatricial Pemphigoid as an Isolated Involvement Treated with Mycophenolate Mofetil. ( 26557393 )
2015
12
Cicatricial pemphigoid vegetans in a Polish woman. ( 26147045 )
2015
13
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
14
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
15
Remission of anti-epiligrin cicatricial pemphigoid after excision of cervical adenocarcinoma. ( 24766621 )
2014
16
Hypopharyngeal presentation of cicatricial pemphigoid: videofluorographic and direct laryngoscopic findings. ( 23442384 )
2013
17
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
18
Brunsting-perry type cicatricial pemphigoid with IgG autoantibodies to LAD-1. ( 24124894 )
2013
19
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
20
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
21
A case of cicatricial pemphigoid of the larynx successfully treated with plasmapheresis therapy. ( 24170474 )
2013
22
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
23
Ocular and oral mucous membrane pemphigoid (cicatricial pemphigoid). ( 22137224 )
2012
24
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
25
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
26
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
27
Cicatricial pemphigoid of the scalp mimicking discoid lupus erythematosus. ( 21920254 )
2011
28
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
29
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
30
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
31
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
32
Recalcitrant cicatricial pemphigoid treated with the anti-TNF-alpha agent etanercept. ( 20120429 )
2010
33
A tooth for an eye: cicatricial pemphigoid and the osteo-odonto-keratoprosthesis. ( 20956670 )
2010
34
Transnasal endoscopy in a patient with cicatricial pemphigoid. ( 20524762 )
2010
35
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
36
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
37
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. ( 21180281 )
2010
38
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
39
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
40
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. ( 20537062 )
2010
41
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
42
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
43
Multiple mucosal involvement in cicatricial pemphigoid. ( 20161882 )
2009
44
Laser light may improve the symptoms of oral lesions of cicatricial pemphigoid: a case report. ( 19878031 )
2009
45
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
46
Cyclophosphamide and amniotic membrane transplantation in the management of ocular disease in a case of antiepiligrin cicatricial pemphigoid. ( 19747320 )
2009
47
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
2009
48
A quick and simple serum test to differentiate bullous pemphigoid, epidermolysis bullosa acquisita, and anti-epiligrin cicatricial pemphigoid. ( 18718187 )
2008
49
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. ( 18356734 )
2008
50
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. ( 18724167 )
2008

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 CD79A COL17A1 ITGB4 LAMA3 LAMC2
2
Show member pathways
12.17 COL17A1 DST ITGB4 LAMA3 LAMC2
3
Show member pathways
12.15 COL17A1 DST ITGB4 LAMA3 LAMC2 SERPINH1
4
Show member pathways
11.91 ITGB4 LAMA3 LAMC2 NID1
5
Show member pathways
11.86 COL17A1 ITGB4 LAMA3 LAMC2
6
Show member pathways
11.82 COL17A1 DST ITGB4 LAMA3 LAMC2 NID1
7
Show member pathways
11.79 ITGB4 LAMA3 LAMC2
8
Show member pathways
11.37 ITGB4 LAMA3 LAMC2
9 11.28 LAMA3 LAMC2 NID1
10 11.06 ITGB4 LAMA3
11 11.03 LAMC2 TNFRSF1B
12 10.99 COL17A1 ITGB4
13 10.68 COL17A1 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 extracellular region GO:0005576 9.8 CFP COL17A1 LAMA3 LAMC2 NID1 TNFRSF1B
2 endoplasmic reticulum lumen GO:0005788 9.58 CFP COL17A1 SERPINH1
3 proteinaceous extracellular matrix GO:0005578 9.46 COL17A1 LAMA3 LAMC2 NID1
4 membrane raft GO:0045121 9.43 CD79A SERPINH1 TNFRSF1B
5 cell leading edge GO:0031252 9.37 DST ITGB4
6 hemidesmosome GO:0030056 9.13 COL17A1 DST ITGB4
7 basement membrane GO:0005604 9.02 COL17A1 DST LAMA3 LAMC2 NID1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.55 DST ITGB4 LAMA3 LAMC2 NID1
2 epidermis development GO:0008544 9.54 COL17A1 LAMA3 LAMC2
3 cell-matrix adhesion GO:0007160 9.5 COL17A1 ITGB4 NID1
4 extracellular matrix disassembly GO:0022617 9.43 LAMA3 LAMC2 NID1
5 cell motility GO:0048870 9.4 DST ITGB4
6 extracellular matrix organization GO:0030198 9.26 ITGB4 LAMA3 LAMC2 NID1
7 hemidesmosome assembly GO:0031581 8.92 COL17A1 ITGB4 LAMA3 LAMC2

Sources for Cicatricial Pemphigoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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