MCID: PRN049
MIFTS: 40

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 b-cell lymphomas and hepatitis, and has symptoms including Array, Array 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 141)
idRelated DiseaseScoreTop Affiliating Genes
1b-cell lymphomas30.1HLA-A, HLA-DQB1, HLA-DRB1
2hepatitis29.3HLA-A, HLA-B, HLA-C, HLA-DRB1
3pemphigus11.6
4lymphoma10.4
5x-linked intellectual disability-precocious puberty-obesity syndrome10.3DSG3, DSP
6cardiomyopathy, dilated, 1bb10.3DSG1, DSP
7pneumonia caused by pseudomonas aeruginosa infection10.3DSG1, DSP
8codas syndrome10.3DSC2, DSP
9immunodeficiency by defective expression of hla class 110.3DSG1, DSG3
10myalgia-eosinophilia syndrome associated with tryptophan10.3DSG1, DSG3, DST
11choanal atresia and lymphedema10.3DSC2, DSP
12bronchiolitis10.2
13klippel-feil syndrome 210.2DSC2, DSP
14apple allergy10.2HLA-DQB1, HLA-DRB1
15lipoma10.2DSC2, DSG1, DSP
16hemoglobin d disease10.2HLA-DQB1, HLA-DRB1
17bronchiolitis obliterans10.2
18sarcoma10.2
19bilateral parasagittal parieto-occipital polymicrogyria10.2HLA-DQB1, HLA-DRB1
20fibular hemimelia, bilateral10.2DSC2, DSG2, DSP
21fibular hemimelia, unilateral10.2DSC2, DSG2, DSP
22congenital absence of upper arm and forearm with hand present, bilateral10.2DSC2, DSG2, DSP
23midline interhemispheric variant of holoprosencephaly10.2HLA-DQB1, HLA-DRB1
24esophagus carcinoma in situ10.2DSG1, DSG2
25pemphigus vulgaris10.2
26mirizzi syndrome10.2HLA-B, HLA-DRB1
27solid pseudopapillary carcinoma of pancreas10.2HLA-A, HLA-B
28pervasive developmental disorder10.2DSC2, DSG2, DSP
29x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome10.2DSC3, DSG1, PPL
30follicular dendritic cell sarcoma10.2
31linear hamartoma syndrome10.2COL17A1, DST
32rete testis adenocarcinoma10.2HLA-A, HLA-DQB1
33myopathy, congenital nonprogressive, with moebius sequence and robin sequence10.2HLA-A, HLA-B
34autosomal dominant intermediate charcot-marie-tooth10.1HLA-DQB1, HLA-DRB1
35immune deficiency, familial variable10.1HLA-B, HLA-DQB1, HLA-DRB1
36cervical adenoid basal carcinoma10.1HLA-B, HLA-DQB1, HLA-DRB1
37renal agenesis meningomyelocele mullerian defect10.1HLA-DQB1, HLA-DRB1
38cryptococcosis10.1HLA-B, HLA-DQB1, HLA-DRB1
39leukemia10.1
40lichen planus10.1
41microscopic breast papilloma10.1DSP, HLA-B, HLA-DQB1
42lipoblastoma10.1COL17A1, DST
43sacral nerve root cysts10.1HLA-A, HLA-B, HLA-DRB1
44acute cholangitis10.1HLA-B, HLA-C, HLA-DRB1
45oral cavity cancer10.1COL17A1, DSG1, DST
46mucositis10.1
47thymoma10.1
48castleman disease10.1
49hernia of ovary and fallopian tube10.1HLA-A, HLA-B, HLA-DRB1
50peptidic growth factors deficiency10.1COL17A1, DST, HLA-DRB1

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:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral ulcer64 54 Very frequent (99-80%) HP:0000155
2 abnormal blistering of the skin54 Very frequent (99-80%)
3 b-cell lymphoma64 54 Frequent (79-30%) HP:0012191
4 sarcoma64 54 Frequent (79-30%) HP:0100242
5 thymoma64 54 Frequent (79-30%) HP:0100522
6 skin erosion64 54 Very frequent (99-80%) HP:0200041
7 oral mucosal blisters64 54 Very frequent (99-80%) HP:0200097

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.4HLA-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
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. (26969813)
2016
2
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. (27427435)
2016
3
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. (27014502)
2016
4
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. (27270550)
2016
5
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. (27537424)
2016
6
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. (27812271)
2016
7
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. (27352260)
2016
8
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. (27406120)
2016
9
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. (27878477)
2016
10
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. (27525088)
2016
11
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman's disease. (27436786)
2016
12
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. (27115591)
2016
13
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. (27190659)
2016
14
Paraneoplastic pemphigus: a short review. (27729809)
2016
15
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. (26946347)
2016
16
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. (26802236)
2016
17
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. (27051823)
2016
18
Direct and indirect immunofluorescence staining patterns in the diagnosis of paraneoplastic pemphigus. (26556228)
2015
19
Paraneoplastic pemphigus: two cases of intra-abdominal malignancy presenting solely as treatment refractory oral ulceration. (25557248)
2015
20
Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. (26480281)
2015
21
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. (26002672)
2015
22
Comparative study of five serological assays for the diagnosis of paraneoplastic pemphigus. (25474518)
2015
23
Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. (26358412)
2015
24
Reply to: Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. (26473404)
2015
25
Production of numerous autoantibodies in paraneoplastic pemphigus. (25827731)
2015
26
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. (26179266)
2015
27
Paraneoplastic pemphigus: an entity still in search of an identity? (26708542)
2015
28
Gastric Cancer and Paraneoplastic Pemphigus. (26884668)
2015
29
Rituximab Monotherapy and Rituximab-Containing Chemotherapy Were Effective for Paraneoplastic Pemphigus Accompanying Follicular Lymphoma, but not for Subsequent Bronchiolitis Obliterans. (26490520)
2015
30
Evaluation of a Newly Available ELISA for Envoplakin Autoantibodies for the Diagnosis of Paraneoplastic Pemphigus. (26461820)
2015
31
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. (26740314)
2015
32
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: report of a case and review of literature. (26722384)
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
Clinical and laboratory characterization of 114 cases of Castleman disease patients from a single centre: paraneoplastic pemphigus is an unfavourable prognostic factor. (25824806)
2015
35
Castleman's Disease with Paraneoplastic Pemphigus. (25071278)
2014
36
Paraneoplastic pemphigus associated with metastatic lymphoepithelioma-like carcinoma originating from the thyroid gland. (25112893)
2014
37
Prevalence of myasthenia gravis and associated autoantibodies in paraneoplastic pemphigus and their correlations with symptoms and prognosis. (25388377)
2014
38
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and appearance of anti-BP180 antibodies in the late stage of the disease. (24985544)
2014
39
Paraneoplastic pemphigus in patient infected with the human immunodeficiency virus. (23758217)
2014
40
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. (25257550)
2014
41
Paraneoplastic pemphigus as the first manifestation of follicular dendritic cell sarcoma. (24119156)
2014
42
Recalcitrant paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: response to prolonged rituximab and ciclosporin therapy. (25367731)
2014
43
Anti-desmoglein antibody-negative paraneoplastic pemphigus successfully treated with rituximab. (24738571)
2014
44
Paraneoplastic pemphigus associated with inflammatory myofibroblastic tumour of the mediastinum: A favourable response to treatment and review of the literature. (25369175)
2014
45
Mediastinal follicular dendritic cell sarcoma with paraneoplastic pemphigus. (25406405)
2014
46
Immunological and statistical studies of anti-BP180 antibodies in paraneoplastic pemphigus. (24658507)
2014
47
Paraneoplastic pemphigus occurs most commonly in indolent B cell lymphoma. (24481059)
2014
48
Paraneoplastic pemphigus occurring after bendamustine and rituximab therapy for relapsed follicular lymphoma. (25199505)
2014
49
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. (25388966)
2014
50
Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3. (24635070)
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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7DSG1, HLA-DQB1, HLA-DRB1
2
Show member pathways
9.6DSP, DST, EVPL, PPL
39.4HLA-A, HLA-B, HLA-C
4
Show member pathways
9.2DSG1, DSG2, DSG3, DSP
5
Show member pathways
8.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
68.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
78.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
8
Show member pathways
8.9HLA-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
11
Show member pathways
8.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12
Show member pathways
7.3DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
13
Show member pathways
7.3DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

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 20)
idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:004261310.7HLA-DQB1, HLA-DRB1
2hemidesmosomeGO:003005610.6COL17A1, DST
3intercalated discGO:001470410.6DSC2, DSG2, DSP
4early endosome membraneGO:003190110.3HLA-A, HLA-B, HLA-C
5MHC class I protein complexGO:004261210.2HLA-A, HLA-B, HLA-C
6phagocytic vesicle membraneGO:003067010.2HLA-A, HLA-B, HLA-C
7ficolin-1-rich granule membraneGO:010100310.1DSC1, DSG1, DSP
8cell-cell junctionGO:00059119.7COL17A1, DSC3, DSG1, DSG2, DSP
9cell surfaceGO:00099869.7DSG2, HLA-A, HLA-B, HLA-C, HLA-DRB1
10ER to Golgi transport vesicle membraneGO:00125079.7HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
11integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.7HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
12recycling endosome membraneGO:00550389.4HLA-A, HLA-B, HLA-C
13Golgi membraneGO:00001399.1BLZF1, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
14cornified envelopeGO:00015338.2DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
15desmosomeGO:00300578.2DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
16cell junctionGO:00300547.5COL17A1, DSC1, DSC2, DSC3, DSG1, DSG2
17extracellular exosomeGO:00700626.8A2ML1, DSC1, DSC2, DSG1, DSG2, DSG3
18integral component of membraneGO:00160216.0COL17A1, DSC1, DSC2, DSC3, DSG1, DSG2
19membraneGO:00160205.5COL17A1, DSC1, DSC2, DSC3, DSG1, DSG2
20plasma membraneGO:00058865.2COL17A1, DSC1, DSC2, DSC3, DSG1, DSG2

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:004510410.7DSP, DST
2desmosome organizationGO:000293410.7DSG2, DSP
3antigen processing and presentation of peptide or polysaccharide antigen via MHC class IIGO:000250410.7HLA-DQB1, HLA-DRB1
4humoral immune response mediated by circulating immunoglobulinGO:000245510.6HLA-DQB1, HLA-DRB1
5immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.6HLA-DQB1, HLA-DRB1
6bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.5DSC2, DSG2, DSP
7protection from natural killer cell mediated cytotoxicityGO:004227010.4HLA-A, HLA-B
8epidermis developmentGO:000854410.3COL17A1, DSP, EVPL
9regulation of heart rate by cardiac conductionGO:008609110.3DSC2, DSG2, DSP
10regulation of ventricular cardiac muscle cell action potentialGO:009891110.2DSC2, DSG2, DSP
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:000247910.2HLA-A, HLA-B, HLA-C
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.2HLA-A, HLA-B, HLA-C
13antigen processing and presentation of peptide antigen via MHC class IGO:000247410.2HLA-A, HLA-B, HLA-C
14antigen processing and presentationGO:00198829.6HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
15immune responseGO:00069559.6HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
16interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
17regulation of immune responseGO:00507769.5COL17A1, HLA-A, HLA-B, HLA-C
18type I interferon signaling pathwayGO:00603379.4HLA-A, HLA-B, HLA-C
19neutrophil degranulationGO:00433129.2DSC1, DSG1, DSP, HLA-B, HLA-C
20homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.7DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
21cell adhesionGO:00071558.5DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
22cornificationGO:00702688.1DSC1, DSC2, DSC3, DSG1, DSG2, DSG3
23keratinizationGO:00314248.0DSC1, DSC2, DSC3, DSG1, DSG2, DSG3

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:003239510.3HLA-DQB1, HLA-DRB1
2cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.2DSC2, DSG2, DSP
3peptide antigen bindingGO:00426058.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
4calcium ion bindingGO:00055098.2DSC1, 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