MCID: CCT002
MIFTS: 63

Cicatricial Pemphigoid malady

Rare diseases, Eye diseases, Skin diseases categories

Summaries for Cicatricial Pemphigoid

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NIH Rare Diseases:43 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, and has symptoms including autoimmunity, abnormal blistering of the skin and inflammatory abnormality of the eye. 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:10 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

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 57SNOMED-CT, 29ICD9CM, 40NCIt, 35MeSH, 28ICD10 via Orphanet, 27ICD10
See all sources

Cicatricial Pemphigoid, Aliases & Descriptions:

Name: Cicatricial Pemphigoid 10 43 12 49
Benign Mucous Membrane Pemphigoid with Ocular Involvement 10 62
Cicatricial Pemphigoid with Ocular Involvement 10 62
Mucous Membrane Pemphigoid 43 49
Mucosynechial Pemphigoid 43 49
Mucosal Pemphigoid 43 49
Ocular Pemphigoid 10 49
 
Benign Mucous Membrance Pemphigoid 43
Pemphigoid, Benign Mucous Membrane 62
Benign Mucous Membrane Pemphigoid 10
Benign Mucosal Pemphigoid 43
Pemphigoid Cicatricial 45
Ocular Pemphigus 10


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cicatricial pemphigoid:
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:11656
ICD9CM29 694.6
NCIt40 C34907
MeSH35 D010390
Orphanet49 46486, 99922
ICD10 via Orphanet28 L12.1, H13.3*, L12+
ICD1027 H13.3, L12.1

Related Diseases for Cicatricial Pemphigoid

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



Diseases related to cicatricial pemphigoid

Symptoms for Cicatricial Pemphigoid

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Symptoms:

 49 (show all 9)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia
  • autoimmunity/autoimmune reaction/autoantibodies
  • gingivitis
  • abnormal scarring/cheloids/hypertrophic scars
  • functional anomalies of the genital system
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Cicatricial Pemphigoid:

(show all 8)
id Description Frequency HPO Source Accession
1 autoimmunity hallmark (90%) HP:0002960
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 inflammatory abnormality of the eye hallmark (90%) HP:0100533
4 abnormality of reproductive system physiology typical (50%) HP:0000080
5 gingivitis typical (50%) HP:0000230
6 atypical scarring of skin typical (50%) HP:0000987
7 visual impairment occasional (7.5%) HP:0000505
8 opacification of the corneal stroma occasional (7.5%) HP:0007759

Drugs & Therapeutics for Cicatricial Pemphigoid

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Drug clinical trials:

Search ClinicalTrials for Cicatricial Pemphigoid

Search NIH Clinical Center for Cicatricial Pemphigoid

Genetic Tests for Cicatricial Pemphigoid

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Anatomical Context for Cicatricial Pemphigoid

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MalaCards organs/tissues related to Cicatricial Pemphigoid:

33
Skin, Eye, Testes, Lung, Colon, Pancreas, T cells

FMA organs/tissues related to Cicatricial Pemphigoid:

16
Mucous membranes, Skin

Animal Models for Cicatricial Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ITGA6, DST, SERPINH1
2MP:00053818.5SERPINH1, DST, ITGA6, ITGB4
3MP:00053678.3CD79A, ITGB4, ITGA6, DST
4MP:00053878.3CD79A, ITGB4, ITGA6, CIITA
5MP:00053977.9CIITA, DST, ITGA6, CD79A
6MP:00036317.6SERPINH1, DST, ITGA6, ITGB4, CD79A

Publications for Cicatricial Pemphigoid

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Articles related to Cicatricial Pemphigoid:

(show top 50)    (show all 421)
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
Scanning electron microscopy of conjunctival surfaces in patients with ocular cicatricial pemphigoid. (3535522)
1986
41
Ocular cicatricial pemphigoid with granular IgA and complement deposition. (3904684)
1985
42
Occurrence of cicatricial pemphigoid and leiomyosarcoma in a psoriatic patient. (3891438)
1985
43
Cicatricial pemphigoid of the vulva. (3895957)
1985
44
Cicatricial pemphigoid and erythema multiforme. (6337967)
1983
45
Juvenile cicatricial pemphigoid with persistent bullous eruption: a new entity? (6754929)
1982
46
A case of cicatricial pemphigoid or cicatricial linear IgA bullous dermatosis. (6988474)
1980
47
Ocular cicatricial pemphigoid associated with practolol therapy. (773404)
1976
48
Cicatricial pemphigoid. Immunofluorescent studies. (4212995)
1974
49
Letter: Cicatricial pemphigoid. (4814935)
1974
50
CICATRICIAL PEMPHIGOID. (14214789)
1964

Variations for Cicatricial Pemphigoid

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Expression for genes affiliated with Cicatricial Pemphigoid

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Search GEO for disease gene expression data for Cicatricial Pemphigoid.

Pathways for genes affiliated with Cicatricial Pemphigoid

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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 events38
9.5ITGA6, ITGB4
39.5ITGB4, ITGA6
49.5ITGB4, ITGA6
5
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.5ITGB4, ITGA6
69.5ITGB4, ITGA6
79.5ITGB4, ITGA6
89.5ITGA6, ITGB4
9
Show member pathways
9.5ITGA6, CIITA
109.2CD79A, CIITA
119.2CD79A, CIITA
12
Show member pathways
9.0ITGB4, ITGA6, DST
13
Show member pathways
9.0DST, ITGA6, ITGB4
14
Show member pathways
8.7CD79A, ITGB4, ITGA6
15
Show member pathways
8.7ITGA6, ITGB4, CD79A
16
Show member pathways
8.4ITGB4, ITGA6, DST, SERPINH1
17
Show member pathways
8.4ITGB4, ITGA6, DST, SERPINH1

Compounds for genes affiliated with Cicatricial Pemphigoid

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Compounds related to Cicatricial Pemphigoid according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1enterotoxin459.4CIITA, CD79A
2allergens459.4CIITA, CD79A
3chloroquine45 3 51 30 1313.3CD79A, CIITA
4sodium dodecylsulfate459.3CD79A, CIITA
5kalinin459.3ITGB4, ITGA6, DST
6thyroxine45 2610.1CD79A, CIITA
7nitric oxide45 26 1311.0CIITA, SERPINH1, ITGB4
8mannose458.9CD79A, CIITA
9cyclosporin a45 30 6110.8CD79A, SERPINH1, CIITA
10retinoic acid45 269.7CD79A, ITGB4, ITGA6
11tyrosine458.7ITGB4, ITGA6, SERPINH1, CIITA
12oligonucleotide458.6ITGA6, DST, SERPINH1, CIITA
13vegf458.6CD79A, ITGA6, SERPINH1

GO Terms for genes affiliated with Cicatricial Pemphigoid

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

idNameGO IDScoreTop Affiliating Genes
1cell leading edgeGO:00312529.5ITGB4, DST
2hemidesmosomeGO:00300569.0ITGB4, ITGA6, DST
3basal plasma membraneGO:00099258.9DST, ITGA6, ITGB4
4basement membraneGO:00056048.7ITGB4, ITGA6, DST

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:00488709.6DST, ITGB4
2filopodium assemblyGO:00468479.5ITGB4, ITGA6
3cell junction assemblyGO:00343299.5ITGB4, ITGA6
4response to woundingGO:00096119.4ITGB4, DST
5cell-matrix adhesionGO:00071609.2ITGB4, ITGA6
6hemidesmosome assemblyGO:00315819.2ITGB4, ITGA6, DST
7integrin-mediated signaling pathwayGO:00072299.1ITGB4, ITGA6, DST
8extracellular matrix organizationGO:00301988.5SERPINH1, DST, ITGA6, ITGB4

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.5DST, CIITA
2integrin bindingGO:00051789.1ITGA6, DST

Products for genes affiliated with Cicatricial Pemphigoid

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Sources for Cicatricial Pemphigoid

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet