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 76 53 15
Benign Mucous Membrane Pemphigoid with Ocular Involvement 12 73
Pemphigoid, Benign Mucous Membrane 44 73
Ocular Pemphigoid 12 59
Pegylated Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand 44
Cicatricial Pemphigoid with Ocular Involvement 12
2-Keto-3-Deoxy-Manno-Octonyllactose 44
Benign Mucous Membrance Pemphigoid 53
Benign Mucous Membrane Pemphigoid 12
Benign Mucosal Pemphigoid 53
Pemphigoid Cicatricial 55
Ocular Pemphigus 12
N-Heneicosane 44

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11656
ICD10 33 L12.1 H13.3
ICD9CM 35 694.6 694.61
MeSH 44 D010390
NCIt 50 C34907
Orphanet 59 ORPHA99922
ICD10 via Orphanet 34 L12+ H13.3*
UMLS via Orphanet 74 C0157721

Summaries for Cicatricial Pemphigoid

NIH Rare Diseases : 53 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 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 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 : 76 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 99)
# Related Disease Score Top Affiliating Genes
1 ocular cicatricial pemphigoid 31.7 CD79A ITGA6 ITGB4 SERPINH1 TNFRSF1B
2 pemphigoid gestationis 30.6 COL17A1 DST
3 herpes gestationis 30.6 COL17A1 DST
4 pemphigus 30.5 CD79A COL17A1 DST
5 linear iga disease 29.9 CD79A COL17A1 DST ITGB4
6 epidermolysis bullosa acquisita 29.5 CD79A COL17A1 DST ITGB4 LAMA3
7 epidermolysis bullosa 28.5 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
8 bullous pemphigoid 27.9 CD79A COL17A1 DST ITGA6 ITGB4 LAMA3
9 brunsting-perry syndrome 12.0
10 neurotic excoriation 10.6 COL17A1 DST
11 epidermolysis bullosa simplex with muscular dystrophy 10.6 COL17A1 DST
12 ecthyma 10.5 COL17A1 DST
13 kindler syndrome 10.5 DST ITGB4
14 maternal uniparental disomy of chromosome 1 10.4 LAMA3 LAMC2
15 epidermolysis bullosa with pyloric atresia 10.3 ITGA6 ITGB4
16 cervix disease 10.3 CD79A SERPINH1
17 epidermolysis bullosa, junctional, herlitz type 10.3 LAMA3 LAMC2
18 gingivitis 10.3
19 laryngitis 10.3
20 paraneoplastic pemphigus 10.3 COL17A1 DST
21 endocardium disease 10.2 CD79A SERPINH1
22 rheumatoid arthritis 10.2
23 severe cutaneous adverse reaction 10.2
24 arthritis 10.2
25 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
26 lichen planus pemphigoides 10.2 COL17A1 DST ITGB4
27 epidermolysis bullosa simplex 10.2 COL17A1 DST ITGB4
28 pemphigus vulgaris, familial 10.2
29 cataract 10.2
30 pemphigus vulgaris 10.2
31 mucositis 10.2
32 esophagitis 10.2
33 aplasia cutis congenita 10.1 ITGA6 ITGB4
34 lichen disease 10.1 CD79A COL17A1 DST
35 entropion 10.1
36 hypersensitivity reaction disease 10.1 CD79A COL17A1 DST
37 diffuse glomerulonephritis 10.1 CD79A CFP
38 acute poststreptococcal glomerulonephritis 10.1 CD79A CFP
39 conjunctivitis 10.0
40 erythema multiforme 10.0
41 lymphoma 10.0
42 corneal ulcer 10.0
43 lupus erythematosus 10.0
44 lichen sclerosus 10.0
45 rhinoscleroma 9.9 CD79A TNFRSF1B
46 chronic orbital inflammation 9.8 CD79A TNFRSF1B
47 acute salpingitis 9.8 CD79A TNFRSF1B
48 systemic lupus erythematosus 9.8
49 perry syndrome 9.8
50 porphyria cutanea tarda 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 LAMC2 SERPINH1 TNFRSF1B ITGA6 ITGB4 LAMA3
2 digestive/alimentary MP:0005381 9.73 LAMC2 SERPINH1 TNFRSF1B ITGA6 ITGB4 LAMA3
3 immune system MP:0005387 9.7 LAMA3 LAMC2 TNFRSF1B CD79A CFP ITGA6
4 renal/urinary system MP:0005367 9.35 LAMC2 TNFRSF1B CD79A ITGA6 ITGB4
5 respiratory system MP:0005388 9.1 LAMC2 SERPINH1 TNFRSF1B ITGA6 ITGB4 LAMA3

Drugs & Therapeutics for Cicatricial Pemphigoid

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

(show all 29)
# 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 Antineoplastic Agents, Alkylating Phase 3
13
Infliximab Approved Phase 1, Phase 2 170277-31-3
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
15
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
16 Dermatologic Agents Phase 1, Phase 2,Phase 2
17 Micronutrients Phase 1, Phase 2
18 Pharmaceutical Solutions Phase 1, Phase 2
19 Photosensitizing Agents Phase 1, Phase 2
20 Trace Elements Phase 1, Phase 2
21 Vitamin B Complex Phase 1, Phase 2
22 Vitamins Phase 1, Phase 2
23 Gastrointestinal Agents Phase 1, Phase 2
24 Folate Nutraceutical Phase 1, Phase 2
25 Vitamin B2 Nutraceutical Phase 1, Phase 2
26 Vitamin B9 Nutraceutical Phase 1, Phase 2
27 Antibodies Phase 1
28 Immunoglobulins Phase 1
29 Autoantibodies

Interventional clinical trials:

(show all 15)
# 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 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
12 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Recruiting NCT02874079 Not Applicable
13 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
14 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071
15 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

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

19
Mucous Membranes, Skin

MalaCards organs/tissues related to Cicatricial Pemphigoid:

41
Skin, Eye, Testes, Lung, Neutrophil, T Cells, Pancreas

Publications for Cicatricial Pemphigoid

Articles related to Cicatricial Pemphigoid:

(show top 50) (show all 438)
# Title Authors Year
1
A case of antiepiligrin cicatricial pemphigoid with extensive cutaneous erosions mimicking pemphigus vulgaris. ( 29930192 )
2018
2
Management of Ocular Cicatricial Pemphigoid with Intravenous Immunoglobulin Monotherapy. ( 29517945 )
2018
3
Atopy in Patients With Ocular Cicatricial Pemphigoid. ( 29341971 )
2018
4
Adrenocorticotropic hormone analogue as novel treatment regimen in ocular cicatricial pemphigoid. ( 29780948 )
2018
5
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
6
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
7
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. ( 29077176 )
2017
8
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
9
Autoimmune bullous diseases with skin and eye involvement: Cicatricial pemphigoid, pemphigus vulgaris, and pemphigus paraneoplastica. ( 26903186 )
2016
10
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
11
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
12
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
13
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
14
Cicatricial pemphigoid vegetans in a Polish woman. ( 26147045 )
2015
15
Esophageal Cicatricial Pemphigoid as an Isolated Involvement Treated with Mycophenolate Mofetil. ( 26557393 )
2015
16
Remission of anti-epiligrin cicatricial pemphigoid after excision of cervical adenocarcinoma. ( 24766621 )
2014
17
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
18
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
19
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
20
A case of cicatricial pemphigoid of the larynx successfully treated with plasmapheresis therapy. ( 24170474 )
2013
21
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
22
Brunsting-perry type cicatricial pemphigoid with IgG autoantibodies to LAD-1. ( 24124894 )
2013
23
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
24
Hypopharyngeal presentation of cicatricial pemphigoid: videofluorographic and direct laryngoscopic findings. ( 23442384 )
2013
25
Ocular and oral mucous membrane pemphigoid (cicatricial pemphigoid). ( 22137224 )
2012
26
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
27
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
28
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
29
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
30
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
31
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
32
Cicatricial pemphigoid of the scalp mimicking discoid lupus erythematosus. ( 21920254 )
2011
33
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
34
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
35
Transnasal endoscopy in a patient with cicatricial pemphigoid. ( 20524762 )
2010
36
Recalcitrant cicatricial pemphigoid treated with the anti-TNF-alpha agent etanercept. ( 20120429 )
2010
37
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
38
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. ( 20537062 )
2010
39
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
40
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
41
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. ( 21180281 )
2010
42
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
43
A tooth for an eye: cicatricial pemphigoid and the osteo-odonto-keratoprosthesis. ( 20956670 )
2010
44
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
45
Laser light may improve the symptoms of oral lesions of cicatricial pemphigoid: a case report. ( 19878031 )
2009
46
Multiple mucosal involvement in cicatricial pemphigoid. ( 20161882 )
2009
47
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
48
Cyclophosphamide and amniotic membrane transplantation in the management of ocular disease in a case of antiepiligrin cicatricial pemphigoid. ( 19747320 )
2009
49
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
50
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2
2
Show member pathways
12.69 ITGA6 ITGB4 LAMA3 LAMC2
3
Show member pathways
12.69 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
12.08 ITGA6 ITGB4 LAMA3 LAMC2
9
Show member pathways
11.97 ITGA6 LAMA3 LAMC2
10
Show member pathways
11.88 ITGA6 ITGB4 LAMA3 LAMC2
11
Show member pathways
11.82 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
12
Show member pathways
11.81 ITGA6 ITGB4 LAMA3
13 11.6 ITGA6 LAMA3 LAMC2
14
Show member pathways
11.38 ITGA6 ITGB4 LAMA3 LAMC2
15 11.18 ITGA6 ITGB4
16 11.09 ITGB4 LAMA3
17 11.07 LAMC2 TNFRSF1B
18 11.04 COL17A1 ITGA6 ITGB4

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 9.58 CFP COL17A1 SERPINH1
2 membrane raft GO:0045121 9.5 CD79A SERPINH1 TNFRSF1B
3 cell leading edge GO:0031252 9.37 DST ITGB4
4 basement membrane GO:0005604 9.35 COL17A1 DST ITGA6 LAMA3 LAMC2
5 basal plasma membrane GO:0009925 9.26 DST ITGA6
6 integrin complex GO:0008305 9.16 ITGA6 ITGB4
7 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 nail development GO:0035878 9.26 ITGA6 ITGB4
11 extracellular matrix organization GO:0030198 9.26 ITGA6 ITGB4 LAMA3 LAMC2
12 hemidesmosome assembly GO:0031581 9.02 COL17A1 ITGA6 ITGB4 LAMA3 LAMC2

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
2 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Cicatricial Pemphigoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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