MCID: PRN049
MIFTS: 39

Paraneoplastic Pemphigus malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
30ICD10 via Orphanet, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 53 67

Characteristics:

Orphanet epidemiological data:

53
paraneoplastic pemphigus:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Orphanet53 ORPHA63455
UMLS via Orphanet68 C1112570
ICD10 via Orphanet30 L10.8

Summaries for Paraneoplastic Pemphigus

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Wikipedia:70 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 Array. 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 144)
idRelated DiseaseScoreTop Affiliating Genes
1common variable immunodeficiency30.1HLA-B, HLA-DRB1
2human herpesvirus 829.5HLA-A, HLA-B, HLA-C
3pemphigus10.9
4acute poisoning by drugs with membrane-stabilizing effect10.7DSG1, DSP
5cardiomyopathy, dilated, 1bb10.6DSG1, DSP
6meningococcal meningitis10.6DSG1, DSG3
7classic phenylketonuria10.6DSC3, PPL
8codas syndrome10.5DSC2, DSP
9tenorio syndrome10.5DSC2, DSC3
10sacrococcygeal dysgenesis association10.5DSG1, DSG3, DST
11ectodermal dysplasia/skin fragility syndrome10.5DSC2, DSP
12fruit allergy10.4HLA-DQB1, HLA-DRB1
13lipoma10.4DSC2, DSG1, DSP
14wolffian duct adenocarcinoma10.4HLA-DQB1, HLA-DRB1
15klippel-feil syndrome 210.4DSC2, DSP
16peri-anal fistula10.4DSG1, DST, HLA-DRB1
17parsonage turner syndrome10.4HLA-DQB1, HLA-DRB1
18pediatric systemic lupus erythematosus10.4HLA-DQB1, HLA-DRB1
19branch retinal artery occlusion10.4HLA-A, HLA-B
20myopathy-growth delay-intellectual disability-hypospadias syndrome10.4HLA-DQB1, HLA-DRB1
21lymphoma10.4
22lichen sclerosus10.4COL17A1, DST
23krieble bixler syndrome10.3HLA-DQB1, HLA-DRB1
24submandibular gland cancer10.3COL17A1, DST
25malignant cardiac germ cell tumor10.3HLA-A, HLA-DQB1
26spondylarthropathy10.3HLA-DQB1, HLA-DRB1
27epstein-barr virus hepatitis10.3HLA-B, HLA-DRB1
28bronchiolitis10.2
29vitreoretinochoroidopathy dominant10.2HLA-B, HLA-DQB1, HLA-DRB1
30bronchiolitis obliterans10.2
31ovarian papillary cystadenoma10.2HLA-B, HLA-DQB1, HLA-DRB1
32sarcoma10.2
33x-linked congenital generalized hypertrichosis10.2HLA-B, HLA-DQB1, HLA-DRB1
34multicentric castleman disease10.2HLA-B, HLA-DQB1, HLA-DRB1
35microcephaly, holoprosencephaly, and intrauterine growth retardation10.2COL17A1, DST
36allergic hypersensitivity disease10.2HLA-B, HLA-DQB1, HLA-DRB1
37malignant histiocytosis10.2COL17A1, DSG1, DST
38pemphigus vulgaris10.2
39progressive locomotor ataxia10.2HLA-A, HLA-B, HLA-DRB1
40rheumatic myocarditis10.2HLA-DQB1, HLA-DRB1
41giant ganglionic hyperplasia10.2COL17A1, DST, HLA-DRB1
42follicular dendritic cell sarcoma10.2
43hypercementosis10.2HLA-A, HLA-B, HLA-DRB1
44ascending cholangitis10.2HLA-B, HLA-C, HLA-DRB1
45potato nose10.2HLA-A, HLA-B, HLA-DRB1
46skin atrophy10.1COL17A1, DSP, DST
47frontotemporal dementia, right temporal atrophy variant10.1DSC2, DSG2, DSP
48fixed pigmented erythema10.1DSC2, DSG2, DSP
49ketamine-induced biliary dilatation10.1DSC2, DSG2, DSP
50keratomalacia10.1HLA-B, HLA-C, HLA-DQB1

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



Diseases related to paraneoplastic pemphigus

Symptoms for Paraneoplastic Pemphigus

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Human phenotypes related to Paraneoplastic Pemphigus:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity63 hallmark (90%) HP:0000163
2 abnormal blistering of the skin63 53 hallmark (90%) Very frequent (99-80%) HP:0008066
3 oral ulcer53 Very frequent (99-80%)
4 b-cell lymphoma53 Frequent (79-30%)
5 sarcoma53 Frequent (79-30%)
6 thymoma53 Frequent (79-30%)
7 skin erosion53 Very frequent (99-80%)
8 oral mucosal blisters53 Very frequent (99-80%)

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:

35
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 325)
idTitleAuthorsYear
1
Paraneoplastic pemphigus: a short review. (27729809)
2016
2
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. (27525088)
2016
3
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. (26002672)
2015
4
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. (26179266)
2015
5
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
6
Recalcitrant paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: response to prolonged rituximab and ciclosporin therapy. (25367731)
2014
7
Mediastinal follicular dendritic cell sarcoma with paraneoplastic pemphigus. (25406405)
2014
8
Prevalence of myasthenia gravis and associated autoantibodies in paraneoplastic pemphigus and their correlations with symptoms and prognosis. (25388377)
2014
9
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
10
Paraneoplastic pemphigus: initial manifestation of lung cancer. (23670336)
2013
11
Alemtuzumab is effective against severe chronic lymphocytic leukaemia-associated paraneoplastic pemphigus. (23517368)
2013
12
A case of paraneoplastic pemphigus associated with triple malignancies in combination with antilaminin-332 mucous membrane pemphigoid. (21777224)
2012
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
Successful treatment of a paraneoplastic pemphigus in a teenager using plasmapheresis, corticosteroids and tumour resection. (21933232)
2011
16
Paraneoplastic pemphigus due to natural-killer/T-cell lymphoma. (21517813)
2011
17
Paraneoplastic pemphigus associated with malignant gastrointestinal stromal tumour. (20107737)
2010
18
Severe paraneoplastic pemphigus in a patient with follicular lymphoma. (19845742)
2010
19
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. (19087213)
2009
20
Paraneoplastic pemphigus: an uncommon cause of chronic cicatrising conjunctivitis. (21998619)
2009
21
Metastatic prostate cancer presenting as paraneoplastic pemphigus: a favourable clinical response to combined androgen blockade and conventional immunosuppressive therapy. (19120335)
2009
22
Genotyping of HLA-I and HLA-II alleles in Chinese patients with paraneoplastic pemphigus. (18070207)
2008
23
Paraneoplastic pemphigus. (17683379)
2007
24
Paraneoplastic pemphigus associated with Castleman's disease: usefulness of the laboratory of autoimmunity in the diagnosis of this disease. (17804551)
2007
25
Paraneoplastic pemphigus associated with CD20-positive follicular non-Hodgkin's lymphoma treated with rituximab: a third case resistant to rituximab therapy. (17342796)
2007
26
Paraneoplastic pemphigus associated with fludarabine use. (17673821)
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 "group A" 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 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7DSG1, HLA-DQB1, HLA-DRB1
2
Show member pathways
9.6DSP, DST, EVPL, PPL
39.6COL17A1, DSP, DST
49.5HLA-A, HLA-B, HLA-C
5
Show member pathways
9.5HLA-A, HLA-B, HLA-C
6
Show member pathways
8.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
7
Show member pathways
8.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
88.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
98.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
108.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
118.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12
Show member pathways
8.9HLA-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:003005610.5COL17A1, DST
3MHC class I protein complexGO:004261210.2HLA-A, HLA-B, HLA-C
4phagocytic vesicle membraneGO:003067010.0HLA-A, HLA-B, HLA-C
5early endosome membraneGO:00319019.9HLA-A, HLA-B, HLA-C
6intercalated discGO:00147049.7DSC2, DSG2, DSP
7integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.6HLA-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:00059119.4COL17A1, 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:00300577.5DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
13extracellular exosomeGO:00700627.2A2ML1, 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
1desmosome organizationGO:000293410.4DSG2, DSP
2intermediate filament cytoskeleton organizationGO:004510410.4DSP, DST
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:00085449.8COL17A1, DSP, EVPL
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.8HLA-A, HLA-B, HLA-C
8antigen processing and presentationGO:00198829.7HLA-A, HLA-B, HLA-C
9bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.6DSC2, DSG2, DSP
10regulation of heart rate by cardiac conductionGO:00860919.6DSC2, DSG2, DSP
11interferon-gamma-mediated signaling pathwayGO:00603339.3HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12regulation of immune responseGO:00507769.3COL17A1, HLA-A, HLA-B, HLA-C
13regulation of ventricular cardiac muscle cell action potentialGO:00989119.3DSC2, DSG2, DSP
14homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.1DSC1, 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:00860839.6DSC2, DSG2, DSP
2peptide antigen bindingGO:00426059.2HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
3calcium ion bindingGO:00055097.6DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

Sources for Paraneoplastic Pemphigus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet