MCID: CCT002
MIFTS: 58

Cicatricial Pemphigoid malady

Rare diseases, Eye diseases, Immune diseases, Skin diseases categories
Download this MalaCard

Summaries for Cicatricial Pemphigoid

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 bullous pemphigoid. An important gene associated with Cicatricial Pemphigoid is ITGB4 (integrin, beta 4), and among its related pathways are Validated targets of C-MYC transcriptional repression and Non-integrin membrane-ECM interactions. The compounds enterotoxin and allergens have been mentioned in the context of this disorder. Affiliated tissues include mucous membranes, skin and skin, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Disease Ontology:8 A bullous skin disease characterized by skin lesions and scaring and located in mucous membranes and located in skin.

Wikipedia:65 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

Aliases & Classifications for Cicatricial Pemphigoid

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 62UMLS, 48Orphanet, 44Novoseek, 57SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Cicatricial Pemphigoid, Aliases & Descriptions:

Name: Cicatricial Pemphigoid 8 42 10
Benign Mucous Membrane Pemphigoid with Ocular Involvement 8 62
Cicatricial Pemphigoid with Ocular Involvement 8 62
Ocular Pemphigoid 8 48
Benign Mucous Membrance Pemphigoid 42
 
Pemphigoid, Benign Mucous Membrane 62
Benign Mucous Membrane Pemphigoid 8
Benign Mucosal Pemphigoid 42
Pemphigoid Cicatricial 44
Ocular Pemphigus 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Immune diseases, Skin diseases
Orphanet: 48 
Rare eye diseases


External Ids:

Disease Ontology8 DOID:11656
ICD9CM27 694.6
MeSH34 D010390
NCIt39 C34907
ICD10 via Orphanet26 H13.3*, L12+
ICD1025 H13.3

Related Diseases for Cicatricial Pemphigoid

About this section

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1ocular cicatricial pemphigoid31.9ITGB4, ITGA6, CIITA
2bullous pemphigoid31.6ITGA6, DST
3epidermolysis bullosa31.1ITGB4, ITGA6, DST
4pemphigus vulgaris30.9CIITA, DST
5epidermolysis bullosa acquisita30.9DST, CD79A, ITGB4
6pemphigus30.8DST, CD79A
7thyroiditis30.6CIITA, CD79A
8mucous membrane pemphigoid30.5DST, ITGA6, ITGB4, CD79A
9rheumatoid arthritis30.5SERPINH1, CD79A, CIITA
10sjogren's syndrome30.3CD79A, CIITA
11systemic lupus erythematosus29.9CIITA, SERPINH1, CD79A
12gingivitis10.6
13laryngitis10.6
14periodontitis10.6
15arthritis10.6
16stevens-johnson syndrome10.6
17cataract10.5
18linear iga disease10.5
19lichen planus10.5
20entropion10.5
21esophagitis10.5
22conjunctivitis10.4
23brunsting-perry syndrome10.4
24renal cell carcinoma10.4
25sclerosing cholangitis10.4
26cholangitis10.4
27periodontal disease10.4
28primary sclerosing cholangitis10.4
29paraneoplastic syndromes10.4
30erythema multiforme10.3
31corneal ulcer10.3
32keratitis10.3
33lupus erythematosus10.3
34lichen sclerosus10.3
35epidermolysis bullosa simplex with pyloric atresia10.2ITGA6, ITGB4
36epidermolysis bullosa with pyloric atresia10.2ITGA6, ITGB4
37epidermolysis bullosa simplex10.2ITGB4, DST
38neurilemmoma10.2ITGA6, ITGB4
39basal cell carcinoma10.2ITGB4, DST
40alopecia10.2
41follicular lymphoma10.2
42hodgkin's lymphoma10.2
43neutropenia10.2
44herpes gestationis10.2
45mucoepidermoid carcinoma10.2
46munchausen by proxy10.2
47porphyria cutanea tarda10.2
48trachoma10.2
49adenocarcinoma10.2
50balanitis10.2

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



Diseases related to cicatricial pemphigoid

Symptoms for Cicatricial Pemphigoid

About this section

Drugs & Therapeutics for Cicatricial Pemphigoid

About this section

Drug clinical trials:

Search ClinicalTrials for Cicatricial Pemphigoid

Search NIH Clinical Center for Cicatricial Pemphigoid

Genetic Tests for Cicatricial Pemphigoid

About this section

Anatomical Context for Cicatricial Pemphigoid

About this section

MalaCards organs/tissues related to Cicatricial Pemphigoid:

32
Skin, Eye, Testes, Lung, Colon, Pancreas, T cells, Neutrophil

FMA organs/tissues related to Cicatricial Pemphigoid:

14
Mucous membranes, Skin

Animal Models for Cicatricial Pemphigoid or affiliated genes

About this section

MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ITGA6, SERPINH1, DST
2MP:00053818.5ITGB4, ITGA6, DST, SERPINH1
3MP:00053678.3ITGB4, DST, ITGA6, CD79A
4MP:00053878.3ITGA6, ITGB4, CD79A, CIITA
5MP:00053977.9ITGA6, DST, CD79A, CIITA
6MP:00036317.6DST, ITGA6, ITGB4, CD79A, SERPINH1

Publications for Cicatricial Pemphigoid

About this section

Articles related to Cicatricial Pemphigoid:

(show top 50)    (show all 417)
idTitleAuthorsYear
1
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. (25014147)
2014
2
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. (23081979)
2012
3
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. (21180281)
2010
4
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. (20537062)
2010
5
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. (21686527)
2009
6
Cyclophosphamide and amniotic membrane transplantation in the management of ocular disease in a case of antiepiligrin cicatricial pemphigoid. (19747320)
2009
7
Two cases of anti-epiligrin cicatricial pemphigoid with and without associated malignancy. (18779887)
2008
8
A recalcitrant case of cicatricial pemphigoid. (17406047)
2007
9
Ocular involvement in anti-epiligrin cicatricial pemphigoid. (17191196)
2006
10
Cicatricial pemphigoid with widespread bullous eruption. (17040507)
2006
11
Ocular cicatricial pemphigoid. (16954792)
2006
12
A new method for measuring progression in patients with ocular cicatricial pemphigoid. (14769592)
2004
13
Intravenous immunoglobulin therapy in patients with ocular-cicatricial pemphigoid: a long-term follow-up. (15234140)
2004
14
Cytokine profile and supposed contribution to scarring in cicatricial pemphigoid. (12558956)
2003
15
Anti-epiligrin cicatricial pemphigoid and epidermolysis bullosa acquisita: differentiation by use of indirect immunofluorescence microscopy. (12664017)
2003
16
Chronic cicatrizing conjunctivitis in a patient with ocular cicatricial pemphigoid and fatal Wegener granulomatosis. (11730661)
2001
17
Cicatricial pemphigoid--a case report. (17664749)
2001
18
Management and outcome of cataract surgery in ocular cicatricial pemphigoid. (10766278)
2000
19
Image interpretation session: 1999. Benign mucous membrane pemphigoid (cicatricial pemphigoid). (10682788)
2000
20
Cicatricial pemphigoid diagnosed by the use of indirect immunofluorescence. (11231199)
2000
21
Intravenous immunoglobulin therapy for ocular cicatricial pemphigoid: a preliminary study. (10571350)
1999
22
Anti-epiligrin cicatricial pemphigoid with antibodies against the gamma2 subunit of laminin 5. (10052402)
1999
23
Linear IgA dermatosis mimicking ocular cicatricial pemphigoid. (10555732)
1999
24
The association between ocular cicatricial pemphigoid and rheumatoid arthritis. (9756444)
1998
25
Desquamative gingivitis and balanitis--linear IgA disease or cicatricial pemphigoid? (9894362)
1998
26
Clear corneal cataract surgery in ocular cicatricial pemphigoid. (9100121)
1997
27
Conjunctival scarring after eyelid surgery as first sign of ocular cicatricial pemphigoid. (9076789)
1997
28
Ocular cicatricial pemphigoid and ocular manifestations of pemphigus vulgaris. (9269598)
1997
29
Stenosis of the esophagus in cicatricial pemphigoid resolved by colon interposition: report of a case. (9068104)
1997
30
Management of airway obstruction in cicatricial pemphigoid. (8699892)
1996
31
Cicatricial pemphigoid: diagnosis and treatment. (8778068)
1996
32
Oesophageal webs associated with cicatricial pemphigoid. (8565261)
1995
33
Retractor plication for lower lid entropion in ocular cicatricial pemphigoid. (8333940)
1993
34
Vulvar cicatricial pemphigoid as a lichen sclerosus imitator. A case report. (1619612)
1992
35
Results of buccal mucosal grafting for patients with medically controlled ocular cicatricial pemphigoid. (1565450)
1992
36
Salt-split human skin substrate for the immunofluorescent screening of serum from patients with cicatricial pemphigoid and a new method of immunoprecipitation with IgA antibodies. (1869683)
1991
37
Obstructive respiratory failure in cicatricial pemphigoid. (2672409)
1989
38
Mast cells in conjunctiva affected by cicatricial pemphigoid. (2671849)
1989
39
The use of chemically split tissue in the detection of circulating anti-basement membrane zone antibodies in bullous pemphigoid and cicatricial pemphigoid. (3277659)
1988
40
Cicatricial pemphigoid. A case of onset at age 5. (3511219)
1986
41
Scanning electron microscopy of conjunctival surfaces in patients with ocular cicatricial pemphigoid. (3535522)
1986
42
Ocular cicatricial pemphigoid with granular IgA and complement deposition. (3904684)
1985
43
Occurrence of cicatricial pemphigoid and leiomyosarcoma in a psoriatic patient. (3891438)
1985
44
Cicatricial pemphigoid of the vulva. (3895957)
1985
45
Cicatricial pemphigoid and erythema multiforme. (6337967)
1983
46
Juvenile cicatricial pemphigoid with persistent bullous eruption: a new entity? (6754929)
1982
47
A case of cicatricial pemphigoid or cicatricial linear IgA bullous dermatosis. (6988474)
1980
48
Ocular cicatricial pemphigoid associated with practolol therapy. (773404)
1976
49
Cicatricial pemphigoid. Immunofluorescent studies. (4212995)
1974
50
CICATRICIAL PEMPHIGOID. (14214789)
1964

Variations for Cicatricial Pemphigoid

About this section

Expression for genes affiliated with Cicatricial Pemphigoid

About this section
Expression patterns in normal tissues for genes affiliated with Cicatricial Pemphigoid

Search GEO for disease gene expression data for Cicatricial Pemphigoid.

Pathways for genes affiliated with Cicatricial Pemphigoid

About this section

Pathways related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ITGA6, ITGB4
2
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.5ITGA6, ITGB4
39.5ITGB4, ITGA6
49.5ITGA6, ITGB4
5
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.5ITGA6, ITGB4
69.5ITGB4, ITGA6
79.5ITGA6, ITGB4
89.5ITGA6, ITGB4
9
Show member pathways
9.5ITGA6, CIITA
109.2CIITA, CD79A
119.2CD79A, CIITA
12
Show member pathways
9.0ITGA6, ITGB4, DST
13
Show member pathways
9.0ITGA6, ITGB4, DST
14
Show member pathways
8.7ITGB4, CD79A, ITGA6
15
Show member pathways
8.7ITGA6, ITGB4, CD79A
16
Show member pathways
8.4ITGA6, DST, SERPINH1, ITGB4
17
Show member pathways
8.4DST, ITGB4, ITGA6, SERPINH1

Compounds for genes affiliated with Cicatricial Pemphigoid

About this section

Compounds related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1enterotoxin449.4CIITA, CD79A
2allergens449.4CIITA, CD79A
3chloroquine44 2 50 28 1113.3CD79A, CIITA
4sodium dodecylsulfate449.3CD79A, CIITA
5kalinin449.3ITGB4, ITGA6, DST
6thyroxine44 2410.1CD79A, CIITA
7nitric oxide44 24 1111.0CIITA, SERPINH1, ITGB4
8mannose448.9CD79A, CIITA
9cyclosporin a44 28 6110.8CD79A, SERPINH1, CIITA
10retinoic acid44 249.7CD79A, ITGB4, ITGA6
11tyrosine448.7ITGB4, ITGA6, SERPINH1, CIITA
12oligonucleotide448.6ITGA6, DST, SERPINH1, CIITA
13vegf448.6CD79A, ITGA6, SERPINH1

GO Terms for genes affiliated with Cicatricial Pemphigoid

About this section

Cellular components related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell leading edgeGO:0312529.5ITGB4, DST
2hemidesmosomeGO:0300569.0ITGB4, ITGA6, DST
3basal plasma membraneGO:0099258.9DST, ITGA6, ITGB4
4basement membraneGO:0056048.7ITGB4, ITGA6, DST

Biological processes related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:0488709.6DST, ITGB4
2filopodium assemblyGO:0468479.5ITGB4, ITGA6
3cell junction assemblyGO:0343299.5ITGB4, ITGA6
4response to woundingGO:0096119.4ITGB4, DST
5cell-matrix adhesionGO:0071609.2ITGB4, ITGA6
6hemidesmosome assemblyGO:0315819.2ITGB4, ITGA6, DST
7integrin-mediated signaling pathwayGO:0072299.1ITGB4, ITGA6, DST
8extracellular matrix organizationGO:0301988.5SERPINH1, DST, ITGA6, ITGB4

Molecular functions related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.5DST, CIITA
2integrin bindingGO:0051789.1ITGA6, DST

Products for genes affiliated with Cicatricial Pemphigoid

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cicatricial Pemphigoid

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet