MCID: MCS003
MIFTS: 51

Mucous Membrane Pemphigoid malady

Skin category

Summaries for Mucous Membrane Pemphigoid

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

MalaCards: Mucous Membrane Pemphigoid, also known as pemphigoid, benign mucous membrane, is related to cicatricial pemphigoid and pemphigus, and has symptoms including corneal clouding/opacity/vascularisation, visual loss/blindness/amblyopia and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. An important gene associated with Mucous Membrane Pemphigoid is ITGB4 (integrin, beta 4), and among its related pathways are Anchoring fibril formation and Apoptotic cleavage of cell adhesion proteins. The compounds estrogen and nickel have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and pancreas, and related mouse phenotypes are respiratory system and renal/urinary system.

Description from OMIM:47 164185

Aliases & Classifications for Mucous Membrane Pemphigoid

Sources:
49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
mucous membrane pemphigoid:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

mucous membrane pemphigoid 49 47
pemphigoid, benign mucous membrane 61
mucosynechial pemphigoid 49
cicatricial pemphigoid 49
mucosal pemphigoid 49


External Ids:

OMIM47 164185
ICD10 via Orphanet26 L12.1

Related Diseases for Mucous Membrane Pemphigoid

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1cicatricial pemphigoid31.2LAMC2, CD79A, ITGA6, ITGB4, COL17A1
2pemphigus31.1CD79A, CDH3, DSG1
3bullous pemphigoid30.9LAMC2, LAMB3, IL13, CD79A, IGHE, DSG1
4pemphigus vulgaris30.8DSG1, CDH1, CDH3
5lichen planus30.8LAMC2, COL17A1
6epidermolysis bullosa acquisita30.7LAMC2, CD79A, DSG1, ITGB4, COL17A1
7ocular cicatricial pemphigoid30.6ITGA6, ITGB4
8diphtheria30.3IL13, CD79A
9tetanus30.3IL13, CD79A
10adenocarcinoma30.3LAMC2, CDH3, CDH1, ITGA6, ITGB4
11squamous cell carcinoma30.3COL17A1, ITGB4, ITGA6, DSG1, CDH1, CDH3
12herpes gestationis30.2COL17A1
13stevens-johnson syndrome10.6
14arthritis10.6
15oral lichen planus10.5
16cicatricial entropion10.5
17graft versus host disease10.4
18brunsting-perry syndrome10.4
19n syndrome10.3
20pemphigoid gestationis10.3
21lichen sclerosus10.3
22conjunctiva squamous cell carcinoma10.2
23erythema multiforme10.2
24primary biliary cirrhosis10.2
25sclerosing cholangitis10.2
26acute leukemia10.2
27thymoma10.2
28vasculitis10.2
29acute graft versus host disease10.2
30primary sclerosing cholangitis10.2
31chronic graft versus host disease10.2
32dysphagia10.2
33lyell syndrome10.2
34paraneoplastic pemphigus10.2
35pemphigus erythematosus10.2
36porphyria cutanea tarda10.2
37sjogren's syndrome10.2
38trachoma10.2
39systemic lupus erythematosus10.2
40mucoepidermoid carcinoma10.2
41alopecia10.2
42balanitis10.2
43micro syndrome10.2
44perry syndrome10.2
45follicular lymphoma10.2
46toxic epidermal necrolysis10.2
47mast syndrome10.2
48venous thrombosis10.2
49atopic keratoconjunctivitis10.2
50discoid lupus erythematosus10.2

Graphical network of the top 20 diseases related to Mucous Membrane Pemphigoid:



Diseases related to mucous membrane pemphigoid

Clinical Features for Mucous Membrane Pemphigoid

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

164185

Clinical synopsis from OMIM:

164185

Symptoms:

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

Drugs & Therapeutics for Mucous Membrane Pemphigoid

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Mucous Membrane Pemphigoid

Drug clinical trials:

Search ClinicalTrials for Mucous Membrane Pemphigoid

Search NIH Clinical Center for Mucous Membrane Pemphigoid

Search CenterWatch for Mucous Membrane Pemphigoid

Genetic Tests for Mucous Membrane Pemphigoid

Anatomical Context for Mucous Membrane Pemphigoid

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mucous Membrane Pemphigoid:

33
Skin, Liver, Pancreas, Thyroid, Prostate, T cells, Trachea

Animal Models for Mucous Membrane Pemphigoid or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Mucous Membrane Pemphigoid

Sources:
51PubMed
See all sources

Articles related to Mucous Membrane Pemphigoid:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Esophageal stenosis in a patient with primary biliary cirrhosis and mucous membrane pemphigoid. (24390262)
2014
2
Interleukin-4RA gene polymorphism is associated with oral mucous membrane pemphigoid. (23557074)
2013
3
Oral cyclophosphamide without corticosteroids to treat mucous membrane pemphigoid. (22963186)
2013
4
Mucous membrane pemphigoid with generalized blisters: IgA and IgG autoantibodies target both laminin-332 and type XVII collagen. (22182184)
2012
5
Treatment of mucous membrane pemphigoid with the combination of mycophenolate mofetil, dapsone, and prednisolone: a case series. (22727107)
2012
6
Mucous membrane pemphigoid affecting the oral cavity: short review on etiopathogenesis, diagnosis and treatment. (22564172)
2012
7
Angioimmunoblastic T-cell lymphoma presenting with both IgA-related leukocytoclastic vasculitis and mucous membrane pemphigoid. (21489903)
2011
8
Therapeutic effect of etanercept in anti-laminin 5 (laminin 332) mucous membrane pemphigoid. (22126878)
2011
9
Detection of linear IgE deposits in bullous pemphigoid and mucous membrane pemphigoid: a useful clue for diagnosis. (21711326)
2011
10
Evaluation of early and late presentation of patients with ocular mucous membrane pemphigoid to two major tertiary referral hospitals in the United Kingdom. (21799523)
2011
11
Long-term results of therapy with mycophenolate mofetil in ocular mucous membrane pemphigoid. (22106912)
2011
12
Colchicine in the management of mucous membrane pemphigoid. (21910802)
2011
13
Immunofluorescence serration pattern analysis as a diagnostic criterion in antilaminin-332 mucous membrane pemphigoid: immunopathological findings and clinical experience in 10 Dutch patients. (21692774)
2011
14
Mucous membrane pemphigoid with autoantibodies to all the laminin 332 subunits and fatal outcome resulting from liver cirrhosis and hepatocellular carcinoma. (21571192)
2011
15
Mucous membrane pemphigoid with immunoglobulin G autoantibodies against full-length and 120-kDa ectodomain of BP180. (21269314)
2011
16
A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the alpha3 subunit. (20199543)
2010
17
Mucous membrane pemphigoid following reduced intensity conditioning allogeneic haematopoietic SCT for biphenotypic leukaemia. (19430504)
2010
18
Simultaneous occurrence of anti-BP180 mucous membrane pemphigoid and mucosal-dominant pemphigus vulgaris. (19778312)
2009
19
Oral Pathology Quiz #61. Case number 2. Mucous membrane pemphigoid. (19177962)
2008
20
Ocular mucous membrane pemphigoid: diagnosis and management strategies. (18781259)
2008
21
Differentiation of mucous membrane pemphigoid subgroups with confocal imaging. (17900942)
2007
22
Relative risk for cancer in mucous membrane pemphigoid associated with antibodies to the beta4 integrin subunit. (17524068)
2007
23
A prospective study of upper aerodigestive tract manifestations of mucous membrane pemphigoid. (16862049)
2006
24
Cost of intravenous immunoglobulin therapy versus conventional immunosuppressive therapy in patients with mucous membrane pemphigoid: a preliminary study. (16264064)
2005
25
Detection of laminin 5-specific auto-antibodies in mucous membrane and bullous pemphigoid sera by ELISA. (15816831)
2005
26
Mucous membrane pemphigoid: an update. (16175044)
2005
27
Mucous membrane pemphigoid: management of advanced ocular disease with intravenous cyclophosphamide and amniotic membrane transplantation. (16120180)
2005
28
Profile of autoantibody to basement membrane zone proteins in patients with mucous membrane pemphigoid: long-term follow up and influence of therapy. (15308120)
2004
29
Frequency of IgA antibodies in pemphigus, bullous pemphigoid and mucous membrane pemphigoid. (15370705)
2004
30
Interventions for mucous membrane pemphigoid and epidermolysis bullosa acquisita. (12535507)
2003
31
A clinical study of oral mucous membrane pemphigoid. (12964512)
2003
32
Mucous membrane pemphigoid: nasal and laryngeal manifestations. (14670151)
2003
33
Mucous membrane pemphigoid presenting with isolated esophageal involvement: a case report. (10968869)
2000
34
Combined treatment of periodontal disease and benign mucous membrane pemphigoid. Case report with 8 years maintenance. (11063396)
2000
35
Mucous membrane pemphigoid: a dual circulating antibody response with IgG and IgA signifies a more severe and persistent disease. (9640363)
1998
36
Benign mucous membrane pemphigoid simulating genitoulcerative disease. (20948043)
1996
37
Changes in the expression of integrins and basement membrane proteins in benign mucous membrane pemphigoid. (8705822)
1995
38
Mucous membrane pemphigoid: an elusive diagnosis? (2457196)
1988
39
Localization of basement membrane components in mucous membrane pemphigoid. (3881535)
1985
40
Benign mucous membrane pemphigoid. (7044248)
1982
41
Stomatologic aspects of cutaneous diseases. Benign mucous membrane pemphigoid. (353098)
1978
42
Benign mucous membrane pemphigoid. Response to therapy with cyclophosphamide. (337904)
1977
43
Benign mucous membrane pemphigoid. 3. Biopsy. (4479067)
1974
44
Benign mucous membrane pemphigoid. (4500271)
1972
45
Benign mucous membrane pemphigoid. (5120174)
1971
46
Mucous membrane pemphigoid-immunofluorescent studies. (4902828)
1969
47
Benign mucous membrane pemphigoid. (5797974)
1969
48
Benign mucous membrane pemphigoid. (5649424)
1968
49
Carcinoma in benign mucous membrane pemphigoid (ocular pemphigus). (14019832)
1962
50
Fatal cicatricial mucous membrane pemphigoid of the trachea. (13885553)
1962

Genetic Variations for Mucous Membrane Pemphigoid

Expression for genes affiliated with Mucous Membrane Pemphigoid

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mucous Membrane Pemphigoid

Search GEO for disease gene expression data for Mucous Membrane Pemphigoid.

Pathways for genes affiliated with Mucous Membrane Pemphigoid

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology
See all sources

Pathways related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LAMC2, LAMB3
29.6CDH1, DSG1
39.4LAMC2, LAMB3, ITGA6
4
Immune response NFAT in immune response
Hide members
9.3CD79A, IGHE, HLA-DQB1
5
Hide members
9.1LAMC2, LAMB3, ITGA6, ITGB4
6
Hide members
9.1ITGB4, ITGA6, LAMB3, LAMC2
79.1ITGB4, ITGA6, LAMB3, LAMC2
8
Cell adhesion ECM remodeling
Hide members
9.1CDH1, LAMB3, LAMC2
99.0COL17A1, ITGB4, ITGA6, CDH1
10
Hide members
8.9HLA-DQB1, ITGB4, ITGA6, CDH1
118.9CDH3, CDH1, ITGA6, ITGB4
128.8LAMC2, LAMB3, ITGA6, ITGB4, COL17A1
13
Hide members
8.8COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
14
Hide members
8.8COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
158.7HLA-DQB1, ITGA6, CDH1, CDH3
168.7ITGA6, CDH1, LAMB3, LAMC2
17
Hide members
8.5COL17A1, ITGB4, ITGA6, CD79A, LAMB3, LAMC2
18
Hide members
8.5ITGB4, ITGA6, CDH1, LAMB3, LAMC2
19
Hide members
8.5HLA-DQB1, ITGA6, IL13, LAMB3, LAMC2
20
Hide members
8.1ITGB4, ITGA6, CDH1, CDH3, LAMB3, LAMC2
218.0COL17A1, ITGB4, ITGA6, EIF6, LAMB3, LAMC2
22
Hide members
7.8COL17A1, ITGB4, ITGA6, CDH1, CDH3, LAMB3

Compounds for genes affiliated with Mucous Membrane Pemphigoid

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1estrogen4510.4CD79A
2nickel45 2411.4IL13
3ovomucoid4510.3IGHE
4gliadin4510.1CD79A, IGHE
5unicap4510.0IGHE, CD79A
6sodium cromoglycate4510.0CD79A, IGHE
7trimellitic anhydride459.8IL13, IGHE
8methyltetrahydrophthalic anhydride459.8IL13, IGHE
9omalizumab45 1110.8IGHE, IL13
10ivig459.7CD79A, IGHE, DSG1
11desloratadine45 1110.7IL13, IGHE
12rituximab45 50 1111.7IL13, CD79A, DSG1
13praziquantel45 1110.5IL13, CD79A, IGHE
14penicillin459.5IGHE, CD79A, IL13
15kalinin459.5LAMC2, LAMB3, ITGA6, ITGB4
16salbutamol45 50 29 11 2413.5IGHE, CD79A, IL13
17methacholine45 1110.5IL13, CD79A, IGHE
18allergens459.5IGHE, CD79A, IL13
19montelukast45 50 29 1112.4IL13, IGHE
20prednisolone45 29 1111.4IGHE, CD79A, IL13
21inositol459.4IL13, CD79A, IGHE
22silicone459.4CD79A, IGHE
23thyroxine45 2410.3IL13, CD79A, IGHE
24carbachol45 29 1111.3IL13, CD79A, CDH1
25hyaluronic acid45 2410.2IL13, CD79A, CDH1
26tarc459.2IGHE, CDH1, IL13
27acetylcholine45 50 29 11 2413.2DSG1, IGHE, CD79A, IL13
28sucrose45 11 2411.2IL13, CDH1, DSG1, COL17A1
29mannose459.1CDH1, CD79A, IL13
30methotrexate45 50 1111.1ITGA6, IGHE, CDH1, CD79A
31folate458.9CD79A, CDH1, IGHE
32histamine45 29 2410.8IL13, CD79A, CDH1, IGHE
33lactate458.8IGHE, CDH1, CD79A, IL13
34glutamine458.7IL13, CDH1, IGHE, HLA-DQB1
35heparin45 29 11 2411.5IGHE, CDH1, CD79A, IL13
36aspartate458.5IL13, CDH1, IGHE, HLA-DQB1
37retinoic acid45 249.1ITGB4, ITGA6, DSG1, IGHE, CDH1, CD79A
38vegf457.8ITGA6, IGHE, CDH1, CD79A, IL13, EIF6
39tyrosine457.3COL17A1, HLA-DQB1, ITGB4, ITGA6, CDH1, CDH3

GO Terms for genes affiliated with Mucous Membrane Pemphigoid

Sources:
16Gene Ontology
See all sources

Cellular components related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal plasma membraneGO:0099259.9ITGA6, ITGB4
2laminin-5 complexGO:0056109.8LAMC2, LAMB3
3hemidesmosomeGO:0300569.8ITGA6, ITGB4, COL17A1
4basement membraneGO:0056049.7COL17A1, ITGB4, ITGA6
5integrin complexGO:0083059.6ITGA6, ITGB4
6external side of plasma membraneGO:0098979.2ITGA6, CD79A, IL13
7plasma membraneGO:0058867.6COL17A1, HLA-DQB1, ITGB4, ITGA6, DSG1, CDH1

Biological processes related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1filopodium assemblyGO:0468479.9ITGA6, ITGB4
2cell-matrix adhesionGO:0071609.7ITGA6, ITGB4, COL17A1
3epidermis developmentGO:0085449.4COL17A1, LAMB3, LAMC2
4hemidesmosome assemblyGO:0315819.0COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
5extracellular matrix organizationGO:0301988.9COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
6cell adhesionGO:0071558.9ITGB4, CDH3, LAMB3, LAMC2
7homophilic cell adhesionGO:0071568.9CDH3, CDH1, DSG1
8cell junction assemblyGO:0343298.0LAMC2, LAMB3, CDH3, CDH1, ITGA6, ITGB4

Molecular functions related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:0452959.6CDH1, DSG1

Products for genes affiliated with Mucous Membrane Pemphigoid

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucous Membrane Pemphigoid

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet