MCID: PRN049
MIFTS: 45

Paraneoplastic Pemphigus

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 55 69

Characteristics:

Orphanet epidemiological data:

55
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Orphanet 55 ORPHA63455
UMLS via Orphanet 70 C1112570
ICD10 via Orphanet 33 L10.8
UMLS 69 C1112570

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to follicular dendritic cell sarcoma and lichen planus, and has symptoms including oral ulcer, b-cell lymphoma and sarcoma. An important gene associated with Paraneoplastic Pemphigus is EVPL (Envoplakin), and among its related pathways/superpathways are Developmental Biology and Allograft rejection. Affiliated tissues include skin, b cells and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized... more...

Related Diseases for Paraneoplastic Pemphigus

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

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.1 DSP EVPL PPL
2 lichen planus 30.2 COL17A1 DSG3 DST
3 pemphigus vegetans 30.1 DSC3 DSG1 PPL
4 lichen planus pemphigoides 30.0 COL17A1 DST
5 pemphigus foliaceus 29.7 DSG1 DSG2 DSG3 DST EVPL HLA-DRB1
6 pemphigus 29.6 A2ML1 COL17A1 DSC1 DSC3 DSG1 DSG2
7 human herpesvirus 8 29.4 HLA-A HLA-B HLA-C
8 pemphigus vulgaris 29.0 DSC3 DSG1 DSG2 DSG3 DSP DST
9 autoimmune disease 28.8 COL17A1 DSG1 HLA-B HLA-DQB1 HLA-DRB1
10 graft-versus-host disease 28.7 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
11 skin disease 28.6 COL17A1 DSC1 DSG1 DSG3 DST
12 bullous pemphigoid 28.2 COL17A1 DSG1 DSG3 DSP DST EVPL
13 pemphigus erythematosus 10.6 DSG3 DSP
14 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.6 DSG1 DSP
15 bullous impetigo 10.5 DSG1 DSG3
16 palmoplantar keratoderma and woolly hair 10.5 DSC2 DSP
17 lymphoma 10.5
18 limbic encephalitis with lgi1 antibodies 10.4 HLA-DQB1 HLA-DRB1
19 ectodermal dysplasia/skin fragility syndrome 10.4 DSC2 DSP
20 herpetiform pemphigus 10.4 DSG1 DSG3 DST
21 ritter's disease 10.4 DSG1 DSG2
22 naxos disease 10.4 DSC2 DSP
23 striate palmoplantar keratoderma 10.4 DSG1 DSP
24 metal allergy 10.4 HLA-DQB1 HLA-DRB1
25 bronchiolitis 10.4
26 focal epithelial hyperplasia 10.4 HLA-DQB1 HLA-DRB1
27 beryllium disease 10.4 HLA-DQB1 HLA-DRB1
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
29 bronchiolitis obliterans 10.4
30 type ii mixed cryoglobulinemia 10.3 HLA-DQB1 HLA-DRB1
31 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSC2 DSG2 DSP
32 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSC2 DSG2 DSP
33 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 DSC2 DSG2 DSP
34 microscopic polyangiitis 10.3 HLA-B HLA-DRB1
35 sarcoma 10.3
36 recurrent respiratory papillomatosis 10.3 HLA-DQB1 HLA-DRB1
37 intrinsic cardiomyopathy 10.3 DSC2 DSG2 DSP
38 chronic beryllium disease 10.3 HLA-DQB1 HLA-DRB1
39 pemphigus vulgaris, familial 10.3
40 atrial standstill 1 10.3 DSC2 DSG2 DSP
41 autoimmune pancreatitis 10.3 HLA-DQB1 HLA-DRB1
42 castleman disease 10.2
43 phenytoin or carbamazepine toxicity 10.2 HLA-A HLA-B
44 lichen sclerosus 10.2 HLA-DQB1 HLA-DRB1
45 leukemia 10.2
46 transverse colon cancer 10.2 DSC2 DSC3
47 thymoma 10.2
48 thymoma, familial 10.2
49 atrial tachyarrhythmia with short pr interval 10.2 HLA-A HLA-B
50 mucositis 10.2

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



Diseases related to Paraneoplastic Pemphigus

Symptoms & Phenotypes for Paraneoplastic Pemphigus

Human phenotypes related to Paraneoplastic Pemphigus:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral ulcer 55 31 hallmark (90%) Very frequent (99-80%) HP:0000155
2 b-cell lymphoma 55 31 frequent (33%) Frequent (79-30%) HP:0012191
3 sarcoma 55 31 frequent (33%) Frequent (79-30%) HP:0100242
4 thymoma 55 31 frequent (33%) Frequent (79-30%) HP:0100522
5 skin erosion 55 31 hallmark (90%) Very frequent (99-80%) HP:0200041
6 oral mucosal blisters 55 31 hallmark (90%) Very frequent (99-80%) HP:0200097
7 abnormal blistering of the skin 55 Very frequent (99-80%)

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

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.14 HLA-C HLA-A HLA-B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.14 HLA-B HLA-C HLA-A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.14 HLA-C HLA-A HLA-B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.14 HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.14 HLA-C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.14 HLA-C HLA-A HLA-B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.14 HLA-C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.14 HLA-C HLA-A HLA-B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.14 HLA-C HLA-A HLA-B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.14 HLA-C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.14 HLA-B HLA-C HLA-A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.14 HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.14 HLA-C HLA-A HLA-B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.14 HLA-C HLA-A HLA-B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.14 HLA-C

Drugs & Therapeutics for Paraneoplastic Pemphigus

Search Clinical Trials , NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

Anatomical Context for Paraneoplastic Pemphigus

MalaCards organs/tissues related to Paraneoplastic Pemphigus:

38
Skin, B Cells, T Cells, Lung, Testes, Bone, Bone Marrow

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 344)
# Title Authors Year
1
Paraneoplastic pemphigus mimicking toxic epidermal necrolysis: An underdiagnosed entity? ( 29387753 )
2018
2
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. ( 29389687 )
2018
3
Image Gallery: Paraneoplastic pemphigus and follicular dendritic cell sarcoma. ( 29441554 )
2018
4
Paraneoplastic pemphigus without detectable anti-plakin antibodies in a patient with non-Hodgkin lymphoma. ( 29143865 )
2018
5
Paraneoplastic Pemphigus in a 34-year-old. ( 29447659 )
2017
6
Paraneoplastic pemphigus seen in four patients with haematological malignancies formerly treated with rituximab. ( 28758262 )
2017
7
Paraneoplastic pemphigus in two pairs of brothers. ( 28622444 )
2017
8
Successful use of Bruton's kinase inhibitor, ibrutinib, to control paraneoplastic pemphigus in a patient with paraneoplastic autoimmune multiorgan syndrome and chronic lymphocytic leukaemia. ( 28295171 )
2017
9
Atypical laboratory presentation of paraneoplastic pemphigus associated with Castleman disease. ( 28367488 )
2017
10
Successful treatment with bendamustine and rituximab for paraneoplastic pemphigus. ( 28447163 )
2017
11
Paraneoplastic Pemphigus with Underlying Retroperitoneal Inflammatory Myofibroblastic Tumor: A Case Report and Review of the Literature. ( 29204394 )
2017
12
Paraneoplastic pemphigus associated with Castleman disease: progression from mucous to mucocutaneous lesions with epitope-spreading phenomena. ( 28213962 )
2017
13
Clinical Analysis of Unicentric Castleman's Disease with Paraneoplastic Pemphigus and Bronchiolitis Obliterans. ( 28877826 )
2017
14
Achievement of the longest survival of paraneoplastic pemphigus with bronchiolitis obliterans associated with follicular lymphoma using R-CHOP chemotherapy. ( 28791608 )
2017
15
Paraneoplastic Pemphigus: Insight into the Autoimmune Pathogenesis, Clinical Features and Therapy. ( 29186863 )
2017
16
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: A case report. ( 28225504 )
2017
17
A Case Report of Paraneoplastic Pemphigus Associated With Retroperitoneal Inflammatory Myofibroblastic Tumor. ( 28724275 )
2017
18
Paraneoplastic Pemphigus. A Life-Threatening Autoimmune Blistering Disease. ( 28801011 )
2017
19
Paraneoplastic Pemphigus Associated with a Malignant Thymoma: A Case of Persistent and Refractory Oral Ulcerations Following Thymectomy. ( 28392652 )
2017
20
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. ( 27878477 )
2016
21
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. ( 27352260 )
2016
22
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. ( 27812271 )
2016
23
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. ( 27406120 )
2016
24
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. ( 27525088 )
2016
25
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman's disease. ( 27436786 )
2016
26
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. ( 27270550 )
2016
27
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. ( 27537424 )
2016
28
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26802236 )
2016
29
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. ( 27014502 )
2016
30
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. ( 27115591 )
2016
31
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. ( 27427435 )
2016
32
Paraneoplastic pemphigus: a short review. ( 27729809 )
2016
33
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. ( 27051823 )
2016
34
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. ( 27190659 )
2016
35
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. ( 26969813 )
2016
36
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. ( 26946347 )
2016
37
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and intractable mucosal erosions: Treatment with cyclosporin in addition to steroid, rituximab and intravenous immunoglobulin. ( 26506947 )
2015
38
Rituximab Monotherapy and Rituximab-Containing Chemotherapy Were Effective for Paraneoplastic Pemphigus Accompanying Follicular Lymphoma, but not for Subsequent Bronchiolitis Obliterans. ( 26490520 )
2015
39
Comparative study of five serological assays for the diagnosis of paraneoplastic pemphigus. ( 25474518 )
2015
40
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. ( 26002672 )
2015
41
Reply to: Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26473404 )
2015
42
Paraneoplastic pemphigus: two cases of intra-abdominal malignancy presenting solely as treatment refractory oral ulceration. ( 25557248 )
2015
43
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: report of a case and review of literature. ( 26722384 )
2015
44
Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26358412 )
2015
45
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. ( 26179266 )
2015
46
Paraneoplastic pemphigus: an entity still in search of an identity? ( 26708542 )
2015
47
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. ( 26740314 )
2015
48
Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26480281 )
2015
49
Gastric Cancer and Paraneoplastic Pemphigus. ( 26884668 )
2015
50
Direct and indirect immunofluorescence staining patterns in the diagnosis of paraneoplastic pemphigus. ( 26556228 )
2015

Variations for Paraneoplastic Pemphigus

Expression for Paraneoplastic Pemphigus

Search GEO for disease gene expression data for Paraneoplastic Pemphigus.

Pathways for Paraneoplastic Pemphigus

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
2
Show member pathways
12.66 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
3
Show member pathways
12.6 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
4
Show member pathways
12.37 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
5 12.17 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
6 11.96 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
7
Show member pathways
11.92 HLA-A HLA-B HLA-C
8
Show member pathways
11.82 DSG1 DSG2 DSG3 DSP
9
Show member pathways
11.74 DSP DST EVPL PPL
10 11.74 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
11
Show member pathways
11.73 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
12 11.52 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
13 11.42 DSG1 HLA-DQB1 HLA-DRB1
14 10.9 HLA-A HLA-B HLA-C

GO Terms for Paraneoplastic Pemphigus

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 DSG2 HLA-A HLA-B HLA-C HLA-DRB1
2 Golgi membrane GO:0000139 9.95 BLZF1 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
3 cell junction GO:0030054 9.9 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
4 cell-cell junction GO:0005911 9.85 COL17A1 DSC3 DSG1 DSG2 DSP
5 ER to Golgi transport vesicle membrane GO:0012507 9.77 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
6 phagocytic vesicle membrane GO:0030670 9.74 HLA-A HLA-B HLA-C
7 recycling endosome membrane GO:0055038 9.73 HLA-A HLA-B HLA-C
8 ficolin-1-rich granule membrane GO:0101003 9.71 DSC1 DSG1 DSP
9 intercalated disc GO:0014704 9.7 DSC2 DSG2 DSP
10 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.65 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
11 MHC class I protein complex GO:0042612 9.61 HLA-A HLA-B HLA-C
12 cornified envelope GO:0001533 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
13 MHC class II protein complex GO:0042613 9.58 HLA-DQB1 HLA-DRB1
14 hemidesmosome GO:0030056 9.55 COL17A1 DST
15 desmosome GO:0030057 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
16 membrane GO:0016020 10.41 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
17 integral component of membrane GO:0016021 10.34 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
18 plasma membrane GO:0005886 10.31 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
19 extracellular exosome GO:0070062 10.17 A2ML1 DSC1 DSC2 DSG1 DSG2 DSG3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.99 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
2 neutrophil degranulation GO:0043312 9.98 DSC1 DSG1 DSP HLA-B HLA-C
3 regulation of immune response GO:0050776 9.86 COL17A1 HLA-A HLA-B HLA-C
4 epidermis development GO:0008544 9.78 COL17A1 DSP EVPL
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.75 HLA-A HLA-B HLA-C
6 type I interferon signaling pathway GO:0060337 9.74 HLA-A HLA-B HLA-C
7 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.73 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
8 interferon-gamma-mediated signaling pathway GO:0060333 9.72 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
9 regulation of heart rate by cardiac conduction GO:0086091 9.69 DSC2 DSG2 DSP
10 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.65 HLA-A HLA-B HLA-C
11 intermediate filament cytoskeleton organization GO:0045104 9.61 DSP DST
12 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.61 DSC2 DSG2 DSP
13 keratinization GO:0031424 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
14 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.6 HLA-DQB1 HLA-DRB1
15 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.58 HLA-A HLA-B HLA-C
16 desmosome organization GO:0002934 9.55 DSG2 DSP
17 antigen processing and presentation GO:0019882 9.55 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
18 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.54 HLA-DQB1 HLA-DRB1
19 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.54 DSC2 DSG2 DSP
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.52 HLA-A HLA-B
21 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.49 HLA-DQB1 HLA-DRB1
22 cornification GO:0070268 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
23 cell adhesion GO:0007155 10 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.7 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
2 MHC class II receptor activity GO:0032395 9.26 HLA-DQB1 HLA-DRB1
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 DSC2 DSG2 DSP
4 peptide antigen binding GO:0042605 9.02 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1

Sources for Paraneoplastic Pemphigus

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33 ICD10 via Orphanet
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42 MESH via Orphanet
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70 UMLS via Orphanet
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