MCID: PRN049
MIFTS: 39

Paraneoplastic Pemphigus malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
31ICD10 via Orphanet, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 54 68

Characteristics:

Orphanet epidemiological data:

54
paraneoplastic pemphigus:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Orphanet54 ORPHA63455
UMLS via Orphanet69 C1112570
ICD10 via Orphanet31 L10.8

Summaries for Paraneoplastic Pemphigus

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Wikipedia:71 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, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

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 & Phenotypes for Paraneoplastic Pemphigus

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Human phenotypes related to Paraneoplastic Pemphigus:

 64 54 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity64 hallmark (90%) HP:0000163
2 abnormal blistering of the skin64 54 hallmark (90%) Very frequent (99-80%) HP:0008066
3 oral ulcer54 Very frequent (99-80%)
4 b-cell lymphoma54 Frequent (79-30%)
5 sarcoma54 Frequent (79-30%)
6 thymoma54 Frequent (79-30%)
7 skin erosion54 Very frequent (99-80%)
8 oral mucosal blisters54 Very frequent (99-80%)

UMLS symptoms related to Paraneoplastic Pemphigus:


coma blister

GenomeRNAi Phenotypes related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.5HLA-A, HLA-B, HLA-C, HLA-A, HLA-B, HLA-C

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:

36
Skin, B cells, T cells, Lung, Testes, Bone, Bone marrow

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
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. (27115591)
2016
4
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. (27427435)
2016
5
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. (27812271)
2016
6
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. (27270550)
2016
7
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. (26802236)
2016
8
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. (27190659)
2016
9
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman's disease. (27436786)
2016
10
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. (27537424)
2016
11
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. (27051823)
2016
12
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. (26946347)
2016
13
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. (27878477)
2016
14
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. (27352260)
2016
15
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. (26969813)
2016
16
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. (27406120)
2016
17
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. (27014502)
2016
18
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. (26002672)
2015
19
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. (26179266)
2015
20
Production of numerous autoantibodies in paraneoplastic pemphigus. (25827731)
2015
21
Rituximab Monotherapy and Rituximab-Containing Chemotherapy Were Effective for Paraneoplastic Pemphigus Accompanying Follicular Lymphoma, but not for Subsequent Bronchiolitis Obliterans. (26490520)
2015
22
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. (26740314)
2015
23
Evaluation of a Newly Available ELISA for Envoplakin Autoantibodies for the Diagnosis of Paraneoplastic Pemphigus. (26461820)
2015
24
Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. (26480281)
2015
25
Comparative study of five serological assays for the diagnosis of paraneoplastic pemphigus. (25474518)
2015
26
Clinical and laboratory characterization of 114 cases of Castleman disease patients from a single centre: paraneoplastic pemphigus is an unfavourable prognostic factor. (25824806)
2015
27
Gastric Cancer and Paraneoplastic Pemphigus. (26884668)
2015
28
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: report of a case and review of literature. (26722384)
2015
29
Direct and indirect immunofluorescence staining patterns in the diagnosis of paraneoplastic pemphigus. (26556228)
2015
30
Reply to: Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. (26473404)
2015
31
Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. (26358412)
2015
32
Paraneoplastic pemphigus: an entity still in search of an identity? (26708542)
2015
33
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and intractable mucosal erosions: Treatment with cyclosporin in addition to steroid, rituximab and intravenous immunoglobulin. (26506947)
2015
34
Paraneoplastic pemphigus: two cases of intra-abdominal malignancy presenting solely as treatment refractory oral ulceration. (25557248)
2015
35
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
36
Recalcitrant paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: response to prolonged rituximab and ciclosporin therapy. (25367731)
2014
37
Mediastinal follicular dendritic cell sarcoma with paraneoplastic pemphigus. (25406405)
2014
38
Prevalence of myasthenia gravis and associated autoantibodies in paraneoplastic pemphigus and their correlations with symptoms and prognosis. (25388377)
2014
39
Retroperitoneal Castlemans disease associated with paraneoplastic pemphigus. (24333134)
2014
40
Immunological and statistical studies of anti-BP180 antibodies in paraneoplastic pemphigus. (24658507)
2014
41
Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus) with unusual manifestations and without detectable autoantibodies. (25035358)
2014
42
Paraneoplastic pemphigus in patient infected with the human immunodeficiency virus. (23758217)
2014
43
Paraneoplastic pemphigus associated with metastatic lymphoepithelioma-like carcinoma originating from the thyroid gland. (25112893)
2014
44
Castleman's Disease with Paraneoplastic Pemphigus. (25071278)
2014
45
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. (25388966)
2014
46
Paraneoplastic pemphigus occurring after bendamustine and rituximab therapy for relapsed follicular lymphoma. (25199505)
2014
47
Non-classical forms of pemphigus: pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus. (24626654)
2014
48
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and appearance of anti-BP180 antibodies in the late stage of the disease. (24985544)
2014
49
Paraneoplastic pemphigus associated with inflammatory myofibroblastic tumour of the mediastinum: A favourable response to treatment and review of the literature. (25369175)
2014
50
Anti-desmoglein antibody-negative paraneoplastic pemphigus successfully treated with rituximab. (24738571)
2014

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:004261310.7HLA-DQB1, HLA-DRB1
2hemidesmosomeGO:003005610.6COL17A1, DST
3intercalated discGO:001470410.3DSC2, DSG2, DSP
4early endosome membraneGO:003190110.3HLA-A, HLA-B, HLA-C
5MHC class I protein complexGO:004261210.3HLA-A, HLA-B, HLA-C
6phagocytic vesicle membraneGO:003067010.3HLA-A, HLA-B, HLA-C
7ER to Golgi transport vesicle membraneGO:00125079.7HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
8cell-cell junctionGO:00059119.7COL17A1, DSC3, DSG1, DSG2, DSP
9integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.7HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
10cell surfaceGO:00099869.6DSG2, HLA-A, HLA-B, HLA-C, HLA-DRB1
11Golgi membraneGO:00001399.0BLZF1, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12desmosomeGO:00300578.4DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
13extracellular exosomeGO:00700627.9A2ML1, 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:004510410.6DSP, DST
2desmosome organizationGO:000293410.5DSG2, DSP
3epidermis developmentGO:000854410.3COL17A1, DSP, EVPL
4bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.2DSC2, DSG2, DSP
5regulation of heart rate by cardiac conductionGO:008609110.2DSC2, DSG2, DSP
6antigen processing and presentationGO:001988210.2HLA-A, HLA-B, HLA-C
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:000247910.2HLA-A, HLA-B, HLA-C
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.2HLA-A, HLA-B, HLA-C
9antigen processing and presentation of peptide antigen via MHC class IGO:000247410.1HLA-A, HLA-B, HLA-C
10regulation of ventricular cardiac muscle cell action potentialGO:009891110.0DSC2, DSG2, DSP
11regulation of immune responseGO:00507769.6COL17A1, HLA-A, HLA-B, HLA-C
12interferon-gamma-mediated signaling pathwayGO:00603339.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
13type I interferon signaling pathwayGO:00603379.5HLA-A, HLA-B, HLA-C
14homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.8DSC1, 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:00860839.9DSC2, DSG2, DSP
2peptide antigen bindingGO:00426058.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
3calcium ion bindingGO:00055098.4DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

Sources for Paraneoplastic Pemphigus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet