MCID: CCT002
MIFTS: 50

Cicatricial Pemphigoid malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Cicatricial Pemphigoid

Aliases & Descriptions for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 12 50 14
Benign Mucous Membrane Pemphigoid with Ocular Involvement 12 69
Pemphigoid, Benign Mucous Membrane 42 69
Ocular Pemphigoid 12 56
Cicatricial Pemphigoid with Ocular Involvement 12
Benign Mucous Membrance Pemphigoid 50
Benign Mucous Membrane Pemphigoid 12
Benign Mucosal Pemphigoid 50
Pemphigoid Cicatricial 52
Ocular Pemphigus 12

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11656
ICD10 33 L12.1 H13.3
ICD9CM 35 694.6 694.61
MeSH 42 D010390
NCIt 47 C34907
Orphanet 56 ORPHA99922
ICD10 via Orphanet 34 L12+ H13.3*

Summaries for Cicatricial Pemphigoid

NIH Rare Diseases : 50 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 rheumatoid arthritis and ocular cicatricial pemphigoid. 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 Mycophenolate mofetil and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are Decreased viability 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 : 71 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 101)
id Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 29.8 CD79A HLA-DQB1 SERPINH1 TNFRSF1B
2 ocular cicatricial pemphigoid 12.6
3 brunsting-perry syndrome 11.5
4 bullous pemphigoid 10.4
5 epidermolysis bullosa 10.3
6 epidermolysis bullosa acquisita 10.2
7 peptidic growth factors deficiency 10.2 COL17A1 DST
8 dyskinesia of esophagus 10.2 COL17A1 DST
9 spinocerebellar ataxia 23 10.2 DST ITGB4
10 gingivitis 10.2
11 laryngitis 10.2
12 vulvovaginal candidiasis 10.2 CD79A SERPINH1
13 lin-gettig syndrome 10.1 COL17A1 HLA-DQB1
14 artery disease 10.1 CD79A SERPINH1
15 arthritis 10.1
16 blackwater fever 10.1 CD79A CFP
17 linear hamartoma syndrome 10.1 COL17A1 DST ITGB4
18 nemaline myopathy 9 10.1 COL17A1 DST ITGB4
19 primary lacrimal atrophy 10.1 CD79A TNFRSF1B
20 intraocular retinoblastoma 10.1 COL17A1 DST ITGB4
21 pneumocystosis 10.1 CD79A TNFRSF1B
22 pemphigus 10.1
23 thrombophlebitis migrans 10.1 CD79A TNFRSF1B
24 angiokeratoma 10.1 CD79A CFP
25 good syndrome 10.1 CD79A HLA-DQB1
26 clostridium difficile colitis 10.1 CD79A HLA-DQB1
27 mucositis 10.1
28 linear iga disease 10.1
29 esophagitis 10.1
30 cataract 10.1
31 conjunctival vascular disease 10.1 CD79A TNFRSF1B
32 oral cavity cancer 10.1 CD79A COL17A1 DST
33 inclusion conjunctivitis 10.0 CD79A TNFRSF1B
34 pompholyx 10.0 CD79A COL17A1 DST
35 46,xy partial gonadal dysgenesis 10.0 LAMA3 LAMC2
36 epidermolysis bullosa, junctional, non-herlitz type 10.0 LAMA3 LAMC2
37 bronchiolitis 10.0 CD79A CFP
38 cryptococcosis 10.0 HLA-DQB1 TNFRSF1B
39 entropion 10.0
40 pemphigus vulgaris 10.0
41 acinic cell breast carcinoma 10.0 CD79A TNFRSF1B
42 anaerobic meningitis 10.0 CD79A HLA-DQB1
43 folinic acid-responsive seizures 10.0 COL17A1 DST HLA-DQB1
44 newcastle disease 10.0 CD79A TNFRSF1B
45 peripheral nervous system neoplasm 10.0 COL17A1 DST
46 conjunctivitis 9.9
47 lipoblastoma 9.9 CD79A COL17A1 DST ITGB4
48 barbiturate abuse 9.9 CD79A HLA-DQB1
49 hypertrophic elongation of cervix 9.9 CD79A TNFRSF1B
50 atypical autism 9.9 CD79A COL17A1 DST LAMA3

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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.43 CD79A HLA-DQB1 SERPINH1
2 Decreased viability GR00381-A-3 9.43 CD79A HLA-DQB1 SERPINH1
3 Increased shRNA abundance GR00327-A 8.92 HLA-DQB1 SERPINH1 CD79A DST

MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.73 LAMA3 LAMC2 SERPINH1 TNFRSF1B HLA-DQB1 ITGB4
2 craniofacial MP:0005382 9.72 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B
3 immune system MP:0005387 9.7 CD79A CFP HLA-DQB1 ITGB4 LAMA3 LAMC2
4 renal/urinary system MP:0005367 9.35 CD79A HLA-DQB1 ITGB4 LAMC2 TNFRSF1B
5 respiratory system MP:0005388 9.1 HLA-DQB1 ITGB4 LAMA3 LAMC2 SERPINH1 TNFRSF1B

Drugs & Therapeutics for Cicatricial Pemphigoid

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

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

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Not yet recruiting NCT02993133 Phase 3
2 Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2
3 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
4 Use of Cross-linked Donor Corneas as Carriers for the Boston Keratoprosthesis Recruiting NCT01582880 Phase 1, Phase 2
5 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732 Phase 1, Phase 2
6 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2
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 Not yet recruiting NCT02987686 Phase 1
9 Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory Conditions Withdrawn NCT02042027 Phase 1
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 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071

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:

39
Skin, Eye, Testes, Lung, T Cells, Neutrophil, Pancreas

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

18
Skin, Mucous Membranes

Publications for Cicatricial Pemphigoid

Articles related to Cicatricial Pemphigoid:

(show top 50) (show all 431)
id Title Authors Year
1
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
2
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
3
Autoimmune bullous diseases with skin and eye involvement: Cicatricial pemphigoid, pemphigus vulgaris, and pemphigus paraneoplastica. ( 26903186 )
2016
4
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
5
Esophageal Cicatricial Pemphigoid as an Isolated Involvement Treated with Mycophenolate Mofetil. ( 26557393 )
2015
6
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
7
Cicatricial pemphigoid vegetans in a Polish woman. ( 26147045 )
2015
8
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
9
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
10
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
11
Remission of anti-epiligrin cicatricial pemphigoid after excision of cervical adenocarcinoma. ( 24766621 )
2014
12
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
13
Brunsting-perry type cicatricial pemphigoid with IgG autoantibodies to LAD-1. ( 24124894 )
2013
14
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
15
Hypopharyngeal presentation of cicatricial pemphigoid: videofluorographic and direct laryngoscopic findings. ( 23442384 )
2013
16
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
17
A case of cicatricial pemphigoid of the larynx successfully treated with plasmapheresis therapy. ( 24170474 )
2013
18
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
19
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
20
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
21
Ocular and oral mucous membrane pemphigoid (cicatricial pemphigoid). ( 22137224 )
2012
22
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
23
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
24
Cicatricial pemphigoid of the scalp mimicking discoid lupus erythematosus. ( 21920254 )
2011
25
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
26
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
27
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
28
Recalcitrant cicatricial pemphigoid treated with the anti-TNF-alpha agent etanercept. ( 20120429 )
2010
29
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. ( 21180281 )
2010
30
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
31
Transnasal endoscopy in a patient with cicatricial pemphigoid. ( 20524762 )
2010
32
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. ( 20537062 )
2010
33
A tooth for an eye: cicatricial pemphigoid and the osteo-odonto-keratoprosthesis. ( 20956670 )
2010
34
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
35
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
36
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
37
Laser light may improve the symptoms of oral lesions of cicatricial pemphigoid: a case report. ( 19878031 )
2009
38
Multiple mucosal involvement in cicatricial pemphigoid. ( 20161882 )
2009
39
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
40
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
41
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
2009
42
Cyclophosphamide and amniotic membrane transplantation in the management of ocular disease in a case of antiepiligrin cicatricial pemphigoid. ( 19747320 )
2009
43
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
44
Ocular manifestations in a case of childhood cicatricial pemphigoid. ( 18609489 )
2008
45
Ocular cicatricial pemphigoid. ( 18762085 )
2008
46
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. ( 18724167 )
2008
47
A quick and simple serum test to differentiate bullous pemphigoid, epidermolysis bullosa acquisita, and anti-epiligrin cicatricial pemphigoid. ( 18718187 )
2008
48
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. ( 18356734 )
2008
49
Two cases of anti-epiligrin cicatricial pemphigoid with and without associated malignancy. ( 18779887 )
2008
50
Brunsting-Perry cicatricial pemphigoid associated with autoantibodies to the C-terminal domain of BP180. ( 18637895 )
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 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 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
12.02 ITGB4 LAMA3 LAMC2
5
Show member pathways
11.85 HLA-DQB1 LAMA3 LAMC2
6
Show member pathways
11.75 COL17A1 DST ITGB4 LAMA3 LAMC2 SERPINH1
7
Show member pathways
11.72 ITGB4 LAMA3 LAMC2
8
Show member pathways
11.26 ITGB4 LAMA3 LAMC2
9 11.01 ITGB4 LAMA3
10 10.98 LAMC2 TNFRSF1B
11 10.92 COL17A1 ITGB4

GO Terms for Cicatricial Pemphigoid

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.5 CFP COL17A1 SERPINH1
2 membrane raft GO:0045121 9.33 CD79A SERPINH1 TNFRSF1B
3 cell leading edge GO:0031252 9.26 DST ITGB4
4 basement membrane GO:0005604 9.26 COL17A1 DST LAMA3 LAMC2
5 hemidesmosome GO:0030056 8.8 COL17A1 DST ITGB4

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.62 DST ITGB4 LAMA3 LAMC2
2 extracellular matrix organization GO:0030198 9.43 ITGB4 LAMA3 LAMC2
3 cell motility GO:0048870 9.16 DST ITGB4
4 epidermis development GO:0008544 9.13 COL17A1 LAMA3 LAMC2
5 hemidesmosome assembly GO:0031581 8.92 COL17A1 ITGB4 LAMA3 LAMC2

Sources for Cicatricial Pemphigoid

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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48 NDF-RT
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68 Tocris
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70 UMLS via Orphanet
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