MCID: PRN049
MIFTS: 38

Paraneoplastic Pemphigus malady

Skin diseases, Rare diseases categories

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 51 65


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
paraneoplastic pemphigus:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age


External Ids:

Orphanet51 63455
ICD10 via Orphanet28 L10.8
UMLS via Orphanet66 C1112570

Summaries for Paraneoplastic Pemphigus

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Wikipedia:68 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized... more...

MalaCards based summary: Paraneoplastic Pemphigus is related to bullous pemphigoid and pemphigus vulgaris, and has symptoms including abnormality of the oral cavity, abnormal blistering of the skin and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. An important gene associated with Paraneoplastic Pemphigus is DSP (Desmoplakin), and among its related pathways are Alpha6-Beta4 Integrin Signaling Pathway and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, b cells and bone.

Related Diseases for Paraneoplastic Pemphigus

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Diseases related to Paraneoplastic Pemphigus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1bullous pemphigoid30.8DST, HLA-C
2pemphigus vulgaris30.8DSG1, DSG2, DSG3, DST, EVPL, HLA-DRB1
3lichen planus pemphigoides30.5COL17A1, HLA-DQB1, HLA-DRB1
4human herpesvirus 830.0HLA-A, HLA-B, HLA-C
5fibrous histiocytoma29.9HLA-A, HLA-B, HLA-DQB1
6pemphigus11.4
7bronchiolitis10.8
8bronchiolitis obliterans10.7
9sarcoma10.7
10dendritic cell sarcoma10.7
11follicular dendritic cell sarcoma10.6
12leukemia10.6
13thymoma10.6
14pemphigus foliaceus10.6
15lichen planus10.6
16castleman disease10.6
17b-cell lymphomas10.6
18chronic lymphocytic leukemia10.6
19follicular lymphoma10.5
20myasthenia gravis10.5
21respiratory failure10.5
22mediastinitis10.4
23stomatitis10.4
24pemphigus vegetans10.4
25pili gemini10.3DSG3, DSP
26braddock syndrome10.3DSG1, DSP
27acute opioid poisoning10.3DSG1, DSG3
28hypercholesterolemia, familial10.3DSC2, DSP
29ectodermal dysplasia/skin fragility syndrome10.3DSC2, DSP
30arrhythmogenic right ventricular dysplasia 1210.3DSC2, DSP
31systemic lupus erythematosus10.3
32hepatocellular carcinoma10.3
33hodgkin lymphoma10.3
34inflammatory myofibroblastic tumor10.3
35conjunctivitis10.3
36dermatitis10.3
37lupus erythematosus10.3
38lens subluxation10.3DSG1, HLA-DRB1
39tsh producing pituitary tumor10.2DSG1, DSP
40intellectual disability - sparse hair - brachydactyly10.2DSG1, DSG3, DST
41hay-wells syndrome10.2DSC2, DSG1, DSP
42familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.2DSC2, DSG2, DSP
43right temporal lobar atrophy10.2DSC2, DSG2, DSP
44mitf-related melanoma and renal cell carcinoma predisposition syndrome10.2DSC2, DSG2, DSP
45lichen planus pigmentosus10.2COL17A1, DST
46linear lichen planus10.2COL17A1, DST
47familial partial lipodystrophy10.2DSC2, DSG2, DSP
48hard palate cancer10.2COL17A1, DST
49tucker syndrome10.2HLA-DQB1, HLA-DRB1
50impotence10.2DSG1, DSG2

Graphical network of the top 20 diseases related to Paraneoplastic Pemphigus:



Diseases related to paraneoplastic pemphigus

Symptoms for Paraneoplastic Pemphigus

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Symptoms:

 51
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia

HPO human phenotypes related to Paraneoplastic Pemphigus:

id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 abnormal blistering of the skin hallmark (90%) HP:0008066

Drugs & Therapeutics for Paraneoplastic Pemphigus

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

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Anatomical Context for Paraneoplastic Pemphigus

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MalaCards organs/tissues related to Paraneoplastic Pemphigus:

33
Skin, B cells, Bone, T cells, Lung, Testes, Bone marrow

Animal Models for Paraneoplastic Pemphigus or affiliated genes

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Publications for Paraneoplastic Pemphigus

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Articles related to Paraneoplastic Pemphigus:

(show top 50)    (show all 303)
idTitleAuthorsYear
1
Clinical and laboratory characterization of 114 cases of Castleman disease patients from a single centre: paraneoplastic pemphigus is an unfavourable prognostic factor. (25824806)
2015
2
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. (25388966)
2014
3
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
4
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
5
IgA pemphigus with paraneoplastic pemphigus-like clinical features showing IgA antibodies to desmoglein 1/3 and desmocollin 3, and IgG and IgA antibodies to the basement membrane zone. (23517469)
2013
6
Laboratory diagnosis of paraneoplastic pemphigus. (23796242)
2013
7
Interdigitating dendritic cell sarcoma complicated with paraneoplastic pemphigus after surgery of resection. (23652075)
2013
8
Paraneoplastic pemphigus: initial manifestation of lung cancer. (23670336)
2013
9
A case report of paraneoplastic pemphigus associated with esophageal squamous cell carcinoma. (23613673)
2013
10
Bronchiolitis obliterans presenting as prolonged ventilator dependence in a patient with paraneoplastic pemphigus. (22813514)
2012
11
Pathogenic anti-desmoglein 3 mAbs cloned from a paraneoplastic pemphigus patient by phage display. (22277944)
2012
12
Paraneoplastic pemphigus (paraneoplastic autoimmune multiorgan syndrome): clinical presentations and pathogenesis. (21605807)
2011
13
Improved outcomes after complete resection of underlying tumors for patients with paraneoplastic pemphigus: a single-center experience of 22 cases. (20390428)
2011
14
Paraneoplastic pemphigus with Castleman's disease and bronchiolitis obliterans. (22181577)
2011
15
Paraneoplastic pemphigus associated with corneal perforation and cutaneous alternariosis: a case report and review of cases treated with rituximab. (21434987)
2011
16
Paraneoplastic pemphigus associated with malignant gastrointestinal stromal tumour. (20107737)
2010
17
The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human. (20805888)
2010
18
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. (19087213)
2009
19
A case of paraneoplastic pemphigus associated with Castleman's disease presenting as erosive lichen planus. (19663833)
2009
20
Detection and characterization of anti-envoplakin linker autoantibodies in paraneoplastic pemphigus using specific bead-based assay. (18790674)
2008
21
Paraneoplastic pemphigus. (17683379)
2007
22
Paraneoplastic pemphigus without an underlying neoplasm. (17300250)
2007
23
Paraneoplastic pemphigus associated with Castleman's disease: usefulness of the laboratory of autoimmunity in the diagnosis of this disease. (17804551)
2007
24
Paraneoplastic Pemphigus and Bronchiolitis Obliterans in a Patient with Splenic B-cell Lymphoma. (17908666)
2007
25
Inflammatory myofibroblastic tumor on intercostal nerve presenting as paraneoplastic pemphigus with fatal pulmonary involvement. (17728520)
2007
26
Paraneoplastic pemphigus in a dog with splenic sarcoma. (15657279)
2005
27
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma and Castleman disease. (16029358)
2005
28
Exacerbation of paraneoplastic pemphigus by cyclophosphamide treatment: detection of novel autoantigens and bronchial autoantibodies. (15149520)
2004
29
Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus) in a child: case report and review of the literature. (15466078)
2004
30
No involvement of IgG autoantibodies against extracellular domains of desmoglein 2 in paraneoplastic pemphigus or inflammatory bowel diseases. (12850306)
2003
31
Herpetiformis pemphigus and lung carcinoma: a case of paraneoplastic pemphigus. (12361141)
2002
32
Paraneoplastic pemphigus triggered by Castleman's disease. (11903261)
2002
33
Paraneoplastic pemphigus: a refractory autoimmune mucocutaneous disease. (12196890)
2002
34
Paraneoplastic pemphigus. (11589740)
2001
35
Paraneoplastic pemphigus. A report of two cases associated with chronic B-cell lymphocytic leukaemia. (11453921)
2001
36
Paraneoplastic pemphigus with circulating antibodies directed exclusively against the pemphigus vulgaris antigen desmoglein 3. (11004638)
2000
37
Paraneoplastic pemphigus in two patients with B-cell non-Hodgkin's lymphoma: significant responses to cyclophosphamide and prednisolone. (10629583)
2000
38
Periplakin and envoplakin are target antigens in canine and human paraneoplastic pemphigus. (10321593)
1999
39
Plectin serves as an autoantigen in paraneoplastic pemphigus. (10469345)
1999
40
Graft-versus-host disease-like immunophenotype and apoptotic keratinocyte death in paraneoplastic pemphigus. (10583130)
1999
41
Paraneoplastic pemphigus with fatal pulmonary involvement in a woman with a mesenteric Castleman tumour. (10233229)
1999
42
Antibodies against desmoglein 3 (pemphigus vulgaris antigen) are present in sera from patients with paraneoplastic pemphigus and cause acantholysis in vivo in neonatal mice. (9710446)
1998
43
Novel non-radioisotope immunoprecipitation studies indicate involvement of pemphigus vulgaris antigen in paraneoplastic pemphigus. (9673895)
1998
44
Childhood paraneoplastic pemphigus associated with Castleman's tumour. (9039308)
1997
45
cDNA cloning of the 210-kDa paraneoplastic pemphigus antigen reveals that envoplakin is a component of the antigen complex. (9284106)
1997
46
Paraneoplastic pemphigus: report of a case. (8708152)
1996
47
Lethal paraneoplastic pemphigus following treatment of chronic lymphocytic leukaemia with fludarabine. (8664199)
1995
48
Paraneoplastic pemphigus presenting as a lichen planus pemphigoides-like eruption. (8323308)
1993
49
Indirect immunofluorescence on rat bladder transitional epithelium: a test with high specificity for paraneoplastic pemphigus. (7684408)
1993
50
Human autoantibodies against desmoplakins in paraneoplastic pemphigus. (1601988)
1992

Variations for Paraneoplastic Pemphigus

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Expression for genes affiliated with Paraneoplastic Pemphigus

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Search GEO for disease gene expression data for Paraneoplastic Pemphigus.

Pathways for genes affiliated with Paraneoplastic Pemphigus

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Pathways related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6COL17A1, DSP, DST
2
Show member pathways
9.6DSP, DST, EVPL, PPL
39.4DSG1, HLA-DQB1, HLA-DRB1
49.4HLA-A, HLA-B, HLA-C
5
Show member pathways
9.3DSC2, DSC3, DSG2, DSP
6
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
7
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
88.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
98.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
108.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
118.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1

GO Terms for genes affiliated with Paraneoplastic Pemphigus

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Cellular components related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:003005610.4COL17A1, DST
2intercalated discGO:001470410.4DSC2, DSG2, DSP
3MHC class II protein complexGO:004261310.3HLA-DQB1, HLA-DRB1
4MHC class I protein complexGO:004261210.1HLA-A, HLA-B, HLA-C
5early endosome membraneGO:003190110.0HLA-A, HLA-B, HLA-C
6phagocytic vesicle membraneGO:00306709.9HLA-A, HLA-B, HLA-C
7cell-cell junctionGO:00059119.5COL17A1, DSC3, DSG1, DSG2, DSP
8integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.2HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
9ER to Golgi transport vesicle membraneGO:00125079.2HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
10cell surfaceGO:00099868.5DSG2, HLA-A, HLA-B, HLA-C, HLA-DRB1
11desmosomeGO:00300578.5DSC2, DSC3, DSG1, DSG2, DSG3, DSP
12Golgi membraneGO:00001398.2BLZF1, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
13membraneGO:00160206.8DSC2, DSC3, DSG1, DSG2, DSG3, HLA-A
14extracellular exosomeGO:00700626.5A2ML1, DSC2, DSG1, DSG2, DSG3, DSP
15integral component of membraneGO:00160216.1C6orf25, DSC2, DSC3, DSG1, DSG2, DSG3
16plasma membraneGO:00058865.3C6orf25, COL17A1, DSC2, DSC3, DSG1, DSG2

Biological processes related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1desmosome organizationGO:000293410.6DSG2, DSP
2intermediate filament cytoskeleton organizationGO:004510410.6DSP, DST
3maternal process involved in female pregnancyGO:006013510.5DSG1, DSG2
4bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.4DSC2, DSG2, DSP
5regulation of ventricular cardiac muscle cell action potentialGO:009891110.4DSC2, DSG2, DSP
6positive regulation of T cell mediated cytotoxicityGO:000191610.3HLA-A, HLA-B
7antigen processing and presentation of peptide or polysaccharide antigen via MHC class IIGO:000250410.3HLA-DQB1, HLA-DRB1
8protection from natural killer cell mediated cytotoxicityGO:004227010.3HLA-A, HLA-B
9immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.3HLA-DQB1, HLA-DRB1
10regulation of heart rate by cardiac conductionGO:008609110.3DSC2, DSG2, DSP
11hemidesmosome assemblyGO:003158110.3COL17A1, DST
12humoral immune response mediated by circulating immunoglobulinGO:000245510.2HLA-DQB1, HLA-DRB1
13epidermis developmentGO:000854410.1COL17A1, DSP, EVPL
14detection of bacteriumGO:001604510.0HLA-A, HLA-B, HLA-DRB1
15antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.0HLA-A, HLA-B, HLA-C
16antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:000248610.0HLA-A, HLA-B, HLA-C
17type I interferon signaling pathwayGO:006033710.0HLA-A, HLA-B, HLA-C
18antigen processing and presentation of peptide antigen via MHC class IGO:00024749.7HLA-A, HLA-B, HLA-C
19antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.7HLA-A, HLA-B, HLA-C
20antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.7HLA-A, HLA-B, HLA-C
21cellular component disassembly involved in execution phase of apoptosisGO:00069219.4DSG1, DSG2, DSG3, DSP
22programmed cell deathGO:00125019.4DSG1, DSG2, DSG3, DSP
23interferon-gamma-mediated signaling pathwayGO:00603339.1HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
24antigen processing and presentationGO:00198829.0HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
25regulation of immune responseGO:00507769.0COL17A1, HLA-A, HLA-B, HLA-C
26immune responseGO:00069558.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
27homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.8DSC2, DSC3, DSG1, DSG2, DSG3
28cytokine-mediated signaling pathwayGO:00192218.6HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
29cell adhesionGO:00071558.3DSC2, DSC3, DSG1, DSG2, DSG3, DST

Molecular functions related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.3DSC2, DSG2, DSP
2MHC class II receptor activityGO:003239510.2HLA-DQB1, HLA-DRB1
3gamma-catenin bindingGO:004529510.2DSC3, DSG1
4TAP bindingGO:00469779.9HLA-A, HLA-B, HLA-C
5peptide antigen bindingGO:00426058.7HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
6calcium ion bindingGO:00055098.4DSC2, DSC3, DSG1, DSG2, DSG3, DST

Sources for Paraneoplastic Pemphigus

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet