MCID: PRN049
MIFTS: 40

Paraneoplastic Pemphigus malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
52Orphanet, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 52 66

Characteristics:

Orphanet epidemiological data:

52
paraneoplastic pemphigus:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Orphanet52 ORPHA63455
ICD10 via Orphanet29 L10.8
UMLS via Orphanet67 C1112570

Summaries for Paraneoplastic Pemphigus

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Wikipedia:69 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized... more...

MalaCards based summary: Paraneoplastic Pemphigus is related to common variable immunodeficiency and human herpesvirus 8, and has symptoms including abnormality of the oral cavity, abnormal blistering of the skin and coma blister. An important gene associated with Paraneoplastic Pemphigus is EVPL (Envoplakin), and among its related pathways are Staphylococcus aureus infection and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, b cells and t cells.

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 148)
idRelated DiseaseScoreTop Affiliating Genes
1common variable immunodeficiency30.3HLA-B, HLA-DRB1
2human herpesvirus 829.6HLA-A, HLA-B, HLA-C
3pemphigus11.3
4acute poisoning by drugs with membrane-stabilizing effect10.8DSG1, DSP
5cardiomyopathy, dilated, 1bb10.8DSG1, DSP
6meningococcal meningitis10.7DSG1, DSG3
7classic phenylketonuria10.7DSC3, PPL
8tenorio syndrome10.6DSC2, DSC3
9codas syndrome10.6DSC2, DSP
10sacrococcygeal dysgenesis association10.6DSG1, DSG3, DST
11ectodermal dysplasia/skin fragility syndrome10.6DSC2, DSP
12fruit allergy10.5HLA-DQB1, HLA-DRB1
13wolffian duct adenocarcinoma10.5HLA-DQB1, HLA-DRB1
14peri-anal fistula10.5DSG1, DST, HLA-DRB1
15lipoma10.5DSC2, DSG1, DSP
16parsonage turner syndrome10.5HLA-DQB1, HLA-DRB1
17klippel-feil syndrome 210.5DSC2, DSP
18pediatric systemic lupus erythematosus10.5HLA-DQB1, HLA-DRB1
19lymphoma10.5
20myopathy-growth delay-intellectual disability-hypospadias syndrome10.5HLA-DQB1, HLA-DRB1
21branch retinal artery occlusion10.5HLA-A, HLA-B
22malignant cardiac germ cell tumor10.5HLA-A, HLA-DQB1
23krieble bixler syndrome10.5HLA-DQB1, HLA-DRB1
24lichen sclerosus10.4COL17A1, DST
25spondylarthropathy10.4HLA-DQB1, HLA-DRB1
26submandibular gland cancer10.4COL17A1, DST
27bronchiolitis10.4
28bronchiolitis obliterans10.4
29frontotemporal dementia, right temporal atrophy variant10.4DSC2, DSG2, DSP
30fixed pigmented erythema10.4DSC2, DSG2, DSP
31ketamine-induced biliary dilatation10.3DSC2, DSG2, DSP
32sarcoma10.3
33atrial standstill, digenic10.3DSC2, DSG2, DSP
34pemphigus vulgaris10.3
35dendritic cell sarcoma10.3
36autoimmune disease of skin and connective tissue10.3DSC2, DSG2, DSP
37progressive locomotor ataxia10.3HLA-A, HLA-B, HLA-DRB1
38follicular dendritic cell sarcoma10.3
39epstein-barr virus hepatitis10.3HLA-B, HLA-DRB1
40hypercementosis10.3HLA-A, HLA-B, HLA-DRB1
41microcephaly, holoprosencephaly, and intrauterine growth retardation10.3COL17A1, DST
42rheumatic myocarditis10.3HLA-DQB1, HLA-DRB1
43giant ganglionic hyperplasia10.3COL17A1, DST, HLA-DRB1
44potato nose10.3HLA-A, HLA-B, HLA-DRB1
45duodenal benign neoplasm10.3HLA-A, HLA-B, HLA-DRB1
46malignant histiocytosis10.2COL17A1, DSG1, DST
47vitreoretinochoroidopathy dominant10.2HLA-B, HLA-DQB1, HLA-DRB1
48ovarian papillary cystadenoma10.2HLA-B, HLA-DQB1, HLA-DRB1
49leukemia10.2
50x-linked congenital generalized hypertrichosis10.2HLA-B, HLA-DQB1, HLA-DRB1

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:

 52 (show all 7)
  • oral ulcer
  • abnormal blistering of the skin
  • b-cell lymphoma
  • sarcoma
  • thymoma
  • skin erosion
  • oral mucosal blisters

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

UMLS symptoms related to Paraneoplastic Pemphigus:


coma blister

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:

34
Skin, B cells, T cells, Lung, Testes, Bone, 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 322)
idTitleAuthorsYear
1
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. (27525088)
2016
2
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. (26002672)
2015
3
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. (26179266)
2015
4
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
5
Recalcitrant paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: response to prolonged rituximab and ciclosporin therapy. (25367731)
2014
6
Mediastinal follicular dendritic cell sarcoma with paraneoplastic pemphigus. (25406405)
2014
7
Prevalence of myasthenia gravis and associated autoantibodies in paraneoplastic pemphigus and their correlations with symptoms and prognosis. (25388377)
2014
8
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
9
Paraneoplastic pemphigus: initial manifestation of lung cancer. (23670336)
2013
10
Alemtuzumab is effective against severe chronic lymphocytic leukaemia-associated paraneoplastic pemphigus. (23517368)
2013
11
A case of paraneoplastic pemphigus associated with triple malignancies in combination with antilaminin-332 mucous membrane pemphigoid. (21777224)
2012
12
Improved outcomes after complete resection of underlying tumors for patients with paraneoplastic pemphigus: a single-center experience of 22 cases. (20390428)
2011
13
Paraneoplastic pemphigus with Castleman's disease and bronchiolitis obliterans. (22181577)
2011
14
Successful treatment of a paraneoplastic pemphigus in a teenager using plasmapheresis, corticosteroids and tumour resection. (21933232)
2011
15
Paraneoplastic pemphigus due to natural-killer/T-cell lymphoma. (21517813)
2011
16
Paraneoplastic pemphigus associated with malignant gastrointestinal stromal tumour. (20107737)
2010
17
Severe paraneoplastic pemphigus in a patient with follicular lymphoma. (19845742)
2010
18
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. (19087213)
2009
19
Paraneoplastic pemphigus: an uncommon cause of chronic cicatrising conjunctivitis. (21998619)
2009
20
Metastatic prostate cancer presenting as paraneoplastic pemphigus: a favourable clinical response to combined androgen blockade and conventional immunosuppressive therapy. (19120335)
2009
21
Genotyping of HLA-I and HLA-II alleles in Chinese patients with paraneoplastic pemphigus. (18070207)
2008
22
Paraneoplastic pemphigus. (17683379)
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 associated with CD20-positive follicular non-Hodgkin's lymphoma treated with rituximab: a third case resistant to rituximab therapy. (17342796)
2007
25
Paraneoplastic pemphigus associated with fludarabine use. (17673821)
2007
26
A novel case of IgA paraneoplastic pemphigus associated with chronic lymphocytic leukemia. (17434044)
2007
27
Severe gastrointestinal involvement in paraneoplastic pemphigus. (16935802)
2006
28
Paraneoplastic pemphigus with widespread mucosal involvement. (16396806)
2005
29
Autoantibody production from a thymoma and a follicular dendritic cell sarcoma associated with paraneoplastic pemphigus. (16120143)
2005
30
Paraneoplastic pemphigus associated with Castleman tumor: a commonly reported subtype of paraneoplastic pemphigus in China. (16230567)
2005
31
Exacerbation of paraneoplastic pemphigus by cyclophosphamide treatment: detection of novel autoantigens and bronchial autoantibodies. (15149520)
2004
32
Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus) in a child: case report and review of the literature. (15466078)
2004
33
A nonfatal case and 2 fatal cases of paraneoplastic pemphigus: can a complement indirect immunofluorescent test help to identify fatal &quot;group A&quot; paraneoplastic pemphigus cases? (12451367)
2002
34
Paraneoplastic pemphigus associated with Castleman's disease and asymptomatic bronchiolitis obliterans. (12095881)
2002
35
Paraneoplastic pemphigus in a patient with a thymoma. (11306845)
2001
36
Paraneoplastic pemphigus in two patients with B-cell non-Hodgkin's lymphoma: significant responses to cyclophosphamide and prednisolone. (10629583)
2000
37
Plectin serves as an autoantigen in paraneoplastic pemphigus. (10469345)
1999
38
Graft-versus-host disease-like immunophenotype and apoptotic keratinocyte death in paraneoplastic pemphigus. (10583130)
1999
39
Paraneoplastic pemphigus with fatal pulmonary involvement in a woman with a mesenteric Castleman tumour. (10233229)
1999
40
Paraneoplastic pemphigus]. (10083884)
1999
41
Paraneoplastic pemphigus with cutaneous and serological features of pemphigus foliaceus. (10468821)
1999
42
Novel non-radioisotope immunoprecipitation studies indicate involvement of pemphigus vulgaris antigen in paraneoplastic pemphigus. (9673895)
1998
43
Localized mucosal involvement and severe pulmonary involvement in a young patient with paraneoplastic pemphigus associated with Castleman's tumour. (9640377)
1998
44
cDNA cloning of the 210-kDa paraneoplastic pemphigus antigen reveals that envoplakin is a component of the antigen complex. (9284106)
1997
45
Paraneoplastic pemphigus: report of a case. (8708152)
1996
46
Lethal paraneoplastic pemphigus following treatment of chronic lymphocytic leukaemia with fludarabine. (8664199)
1995
47
Paraneoplastic pemphigus presenting as a lichen planus pemphigoides-like eruption. (8323308)
1993
48
Paraneoplastic pemphigus: a subset of patients with pemphigus and neoplasia. (8366210)
1993
49
Paraneoplastic pemphigus is a distinct neoplasia-induced autoimmune disease. (8323311)
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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7DSG1, HLA-DQB1, HLA-DRB1
2
Show member pathways
9.6DSP, DST, EVPL, PPL
3
Show member pathways
9.6COL17A1, DSP, DST
49.4HLA-A, HLA-B, HLA-C
59.4HLA-A, HLA-B, HLA-C
6
Show member pathways
9.4HLA-A, HLA-B, HLA-C
7
Show member pathways
8.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
8
Show member pathways
8.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
9
Show member pathways
8.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
108.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
118.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
128.8HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
138.8HLA-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 14)
idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:004261310.6HLA-DQB1, HLA-DRB1
2hemidesmosomeGO:003005610.4COL17A1, DST
3MHC class I protein complexGO:004261210.1HLA-A, HLA-B, HLA-C
4intercalated discGO:001470410.0DSC2, DSG2, DSP
5early endosome membraneGO:00319019.9HLA-A, HLA-B, HLA-C
6phagocytic vesicle membraneGO:00306709.9HLA-A, HLA-B, HLA-C
7integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
8ER to Golgi transport vesicle membraneGO:00125079.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
9cell-cell junctionGO:00059119.2COL17A1, DSC3, DSG1, DSG2, DSP
10cell surfaceGO:00099869.0DSG2, HLA-A, HLA-B, HLA-C, HLA-DRB1
11Golgi membraneGO:00001398.7BLZF1, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12desmosomeGO:00300578.0DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
13extracellular exosomeGO:00700627.3A2ML1, DSC1, DSC2, DSG1, DSG2, DSG3
14plasma membraneGO:00058865.0C6orf25, COL17A1, DSC1, DSC2, DSC3, DSG1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:004510410.4DSP, DST
2desmosome organizationGO:000293410.1DSG2, DSP
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.0HLA-A, HLA-B, HLA-C
4type I interferon signaling pathwayGO:006033710.0HLA-A, HLA-B, HLA-C
5antigen processing and presentation of peptide antigen via MHC class IGO:000247410.0HLA-A, HLA-B, HLA-C
6epidermis developmentGO:00085449.9COL17A1, DSP, EVPL
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.8HLA-A, HLA-B, HLA-C
8bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.8DSC2, DSG2, DSP
9antigen processing and presentationGO:00198829.7HLA-A, HLA-B, HLA-C
10regulation of ventricular cardiac muscle cell action potentialGO:00989119.7DSC2, DSG2, DSP
11regulation of heart rate by cardiac conductionGO:00860919.6DSC2, DSG2, DSP
12interferon-gamma-mediated signaling pathwayGO:00603339.3HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
13regulation of immune responseGO:00507769.3COL17A1, HLA-A, HLA-B, HLA-C
14homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.3DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

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:00860839.7DSC2, DSG2, DSP
2peptide antigen bindingGO:00426059.2HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
3calcium ion bindingGO:00055098.0DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

Sources for Paraneoplastic Pemphigus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet