MCID: PRN049
MIFTS: 44

Paraneoplastic Pemphigus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 60 17 74

Characteristics:

Orphanet epidemiological data:

60
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 L10.8
UMLS via Orphanet 75 C1112570
Orphanet 60 ORPHA63455
UMLS 74 C1112570

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to follicular dendritic cell sarcoma and pemphigus. An important gene associated with Paraneoplastic Pemphigus is EVPL (Envoplakin), and among its related pathways/superpathways are Developmental Biology and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include skin, b cells and t cells, and related phenotypes are skin erosion and oral ulcer

Wikipedia : 77 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is... 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 161)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.2 DSP EVPL PPL
2 pemphigus 31.2 A2ML1 COL17A1 DSC1 DSC3 DSG1 DSG2
3 lichen planus 30.9 COL17A1 DSG3 DST
4 lichen planus pemphigoides 30.7 COL17A1 DST
5 pemphigus vegetans 30.6 DSC3 DSG1 PPL
6 pemphigus foliaceus 30.0 DSG1 DSG2 DSG3 DST EVPL HLA-DRB1
7 autoimmune disease 29.8 COL17A1 DSG1 HLA-DQB1 HLA-DRB1
8 pemphigus vulgaris 29.7 DSC3 DSG1 DSG2 DSG3 DSP DST
9 human herpesvirus 8 29.7 HLA-A HLA-B HLA-C
10 bullous pemphigoid 29.0 COL17A1 DSG1 DSG3 DSP DST EVPL
11 graft-versus-host disease 28.9 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
12 lymphoma 10.6
13 bronchiolitis obliterans 10.5
14 bronchiolitis 10.5
15 sarcoma 10.5
16 pemphigus erythematosus 10.4 DSG3 DSP
17 pemphigus vulgaris, familial 10.4
18 leukemia 10.4
19 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSG1 DSP
20 castleman disease 10.4
21 lymphocytic leukemia 10.4
22 bullous impetigo 10.4 DSG1 DSG3
23 leukemia, chronic lymphocytic 2 10.4
24 leukemia, chronic lymphocytic 10.4
25 leukemia, b-cell, chronic 10.4
26 thymoma, familial 10.4
27 thymoma 10.4
28 palmoplantar keratoderma and woolly hair 10.3 DSC2 DSP
29 follicular lymphoma 10.3
30 linear iga disease 10.3 COL17A1 DST
31 transverse colon cancer 10.3 DSC2 DSC3
32 herpetiform pemphigus 10.3 DSG1 DSG3 DST
33 neurotic excoriation 10.3 COL17A1 DST
34 cardiomyopathy, dilated, with woolly hair and keratoderma 10.3 DSC2 DSG1 DSP
35 naxos disease 10.3 DSC2 DSP
36 inflammatory myofibroblastic tumor 10.3
37 ectodermal dysplasia/skin fragility syndrome 10.3 DSC2 DSP
38 ritter's disease 10.3 DSG1 DSG2
39 myasthenia gravis 10.2
40 myasthenia gravis congenital 10.2
41 arrhythmogenic right ventricular dysplasia, familial, 1 10.2 DSG2 DSP
42 lichen disease 10.2 COL17A1 DSG1 DST
43 striate palmoplantar keratoderma 10.2 DSG1 DSP
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 DSC2 DSG2 DSP
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 DSC2 DSG2 DSP
46 pemphigoid gestationis 10.2 COL17A1 DST HLA-DRB1
47 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 DSC2 DSG2 DSP
48 phenytoin or carbamazepine toxicity 10.2 HLA-A HLA-B
49 idiopathic inflammatory myopathy 10.2 HLA-B HLA-DRB1
50 respiratory failure 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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
2 oral ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0000155
3 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%) HP:0200097
4 sarcoma 60 33 frequent (33%) Frequent (79-30%) HP:0100242
5 thymoma 60 33 frequent (33%) Frequent (79-30%) HP:0100522
6 b-cell lymphoma 60 33 frequent (33%) Frequent (79-30%) HP:0012191
7 abnormal blistering of the skin 60 Very frequent (99-80%)

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

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.14 HLA-A HLA-B HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.14 HLA-A HLA-B HLA-C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.14 HLA-A HLA-B HLA-C
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-A HLA-B HLA-C
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-A HLA-B HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.14 HLA-A HLA-B HLA-C
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-A HLA-B HLA-C
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-A HLA-B HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.14 HLA-A HLA-B HLA-C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.14 HLA-C
16 Increased shRNA abundance GR00327-A 9.26 DSC1 DST HLA-B HLA-DQB1

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:

42
Skin, B Cells, T Cells, Bone, Myeloid, Testes, Bone Marrow

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 364)
# Title Authors Year
1
Paraneoplastic pemphigus presenting lichen planus-like lesions. ( 30216496 )
2019
2
A rare association of paraneoplastic pemphigus with gastric signet cell ring carcinoma. ( 30515763 )
2019
3
Decreased recognition of paraneoplastic pemphigus in patients previously treated with anti-CD 20 monoclonal antibodies. ( 30648258 )
2019
4
Risk factors for death and survival in paraneoplastic pemphigus associated with hematologic malignancies in adults. ( 30981429 )
2019
5
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. ( 29389687 )
2018
6
Paraneoplastic Pemphigus Associated With Castleman Disease Detected by 18F-FDG PET/CT. ( 29561527 )
2018
7
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. ( 27537424 )
2018
8
Image Gallery: Paraneoplastic pemphigus and follicular dendritic cell sarcoma. ( 29441554 )
2018
9
Paraneoplastic Pemphigus as a First Manifestation of an Intra-Abdominal Follicular Dendritic Cell Sarcoma: Rare Case and Review of the Literature. ( 29928216 )
2018
10
Lichenoid paraneoplastic pemphigus associated with follicular lymphoma without detectable autoantibodies. ( 29761536 )
2018
11
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report. ( 30165900 )
2018
12
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. ( 29526963 )
2018
13
Paraneoplastic pemphigus with anti-desmocollin 3 autoantibodies and chronic lymphocytic leukemia. ( 29599682 )
2018
14
Paraneoplastic pemphigus seen in four patients with haematological malignancies formerly treated with rituximab. ( 28758262 )
2018
15
Paraneoplastic pemphigus without detectable anti-plakin antibodies in a patient with non-Hodgkin lymphoma. ( 29143865 )
2018
16
Paraneoplastic pemphigus mimicking toxic epidermal necrolysis: An underdiagnosed entity? ( 29387753 )
2018
17
Paraneoplastic pemphigus without antibodies to desmoglein 1 and 3. ( 29630151 )
2018
18
Correction: Paraneoplastic autoimmune multiorgan syndrome and paraneoplastic pemphigus describe the same spectrum of disease pathology. ( 29749393 )
2018
19
Paraneoplastic pemphigus foliaceus related to underlying breast cancer. ( 29770472 )
2018
20
Paraneoplastic pemphigus in Russian patients: a single center case series. ( 29797440 )
2018
21
Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies. ( 29885912 )
2018
22
Suprabasal acantholytic dermatologic toxicities associated checkpoint inhibitor therapy: A spectrum of immune reactions from paraneoplastic pemphigus-like to Grover-like lesions. ( 29943453 )
2018
23
Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. ( 30103046 )
2018
24
Clinical Analysis of Unicentric Castleman's Disease with Paraneoplastic Pemphigus and Bronchiolitis Obliterans. ( 28877826 )
2017
25
Achievement of the longest survival of paraneoplastic pemphigus with bronchiolitis obliterans associated with follicular lymphoma using R-CHOP chemotherapy. ( 28791608 )
2017
26
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman disease. ( 27436786 )
2017
27
Paraneoplastic pemphigus associated with Castleman disease: progression from mucous to mucocutaneous lesions with epitope-spreading phenomena. ( 28213962 )
2017
28
Atypical laboratory presentation of paraneoplastic pemphigus associated with Castleman disease. ( 28367488 )
2017
29
A Case Report of Paraneoplastic Pemphigus Associated With Retroperitoneal Inflammatory Myofibroblastic Tumor. ( 28724275 )
2017
30
Paraneoplastic Pemphigus with Underlying Retroperitoneal Inflammatory Myofibroblastic Tumor: A Case Report and Review of the Literature. ( 29204394 )
2017
31
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: A case report. ( 28225504 )
2017
32
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. ( 27352260 )
2017
33
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. ( 27878477 )
2017
34
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
35
Paraneoplastic Pemphigus Associated with a Malignant Thymoma: A Case of Persistent and Refractory Oral Ulcerations Following Thymectomy. ( 28392652 )
2017
36
Successful treatment with bendamustine and rituximab for paraneoplastic pemphigus. ( 28447163 )
2017
37
Paraneoplastic pemphigus in two pairs of brothers. ( 28622444 )
2017
38
Paraneoplastic Pemphigus. A Life-Threatening Autoimmune Blistering Disease. ( 28801011 )
2017
39
Paraneoplastic Pemphigus: Insight into the Autoimmune Pathogenesis, Clinical Features and Therapy. ( 29186863 )
2017
40
Paraneoplastic Pemphigus in a 34-year-old. ( 29447659 )
2017
41
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and intractable mucosal erosions: Treatment with cyclosporin in addition to steroid, rituximab and intravenous immunoglobulin. ( 26506947 )
2016
42
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26802236 )
2016
43
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. ( 27115591 )
2016
44
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. ( 27190659 )
2016
45
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. ( 27525088 )
2016
46
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. ( 25388966 )
2016
47
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. ( 27812271 )
2016
48
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. ( 26740314 )
2016
49
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. ( 27051823 )
2016
50
Reply: "Erosive oral lichen planus as a sign of paraneoplastic pemphigus". ( 26918387 )
2016

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
2
Show member pathways
12.76 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
3
Show member pathways
12.63 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
4
Show member pathways
12.35 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
5 12.11 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
6 11.82 HLA-A HLA-B HLA-C
7
Show member pathways
11.8 DSG1 DSG2 DSG3 DSP
8
Show member pathways
11.74 DSP DST EVPL PPL
9 11.74 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
10
Show member pathways
11.73 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
11 11.52 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
12 11.49 DSG1 HLA-DQB1 HLA-DRB1
13 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 20)
# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.99 BLZF1 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
2 cell surface GO:0009986 9.98 DSG2 HLA-A HLA-B HLA-C 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 intermediate filament GO:0005882 9.84 DSP DST EVPL PPL
6 recycling endosome membrane GO:0055038 9.75 HLA-A HLA-B HLA-C
7 phagocytic vesicle membrane GO:0030670 9.74 HLA-A HLA-B HLA-C
8 ficolin-1-rich granule membrane GO:0101003 9.72 DSC1 DSG1 DSP
9 ER to Golgi transport vesicle membrane GO:0012507 9.72 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
10 intercalated disc GO:0014704 9.7 DSC2 DSG2 DSP
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.65 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
12 MHC class I protein complex GO:0042612 9.61 HLA-A HLA-B HLA-C
13 cornified envelope GO:0001533 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
14 MHC class II protein complex GO:0042613 9.59 HLA-DQB1 HLA-DRB1
15 hemidesmosome GO:0030056 9.56 COL17A1 DST
16 desmosome GO:0030057 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
17 membrane GO:0016020 10.41 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
18 integral component of membrane GO:0016021 10.34 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
19 plasma membrane GO:0005886 10.27 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
20 extracellular exosome GO:0070062 10.18 A2ML1 DSC1 DSC2 DSG2 DSG3 DSP

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.91 COL17A1 HLA-A HLA-B HLA-C
2 epidermis development GO:0008544 9.81 COL17A1 DSP EVPL
3 wound healing GO:0042060 9.81 DSP DST EVPL PPL
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
5 type I interferon signaling pathway GO:0060337 9.77 HLA-A HLA-B HLA-C
6 regulation of heart rate by cardiac conduction GO:0086091 9.74 DSC2 DSG2 DSP
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.72 HLA-A HLA-B HLA-C
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.71 HLA-A HLA-B HLA-C
9 positive regulation of T cell mediated cytotoxicity GO:0001916 9.7 HLA-A HLA-B HLA-C
10 intermediate filament cytoskeleton organization GO:0045104 9.67 DSP DST EVPL PPL
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 DSC2 DSG2 DSP
12 interferon-gamma-mediated signaling pathway GO:0060333 9.65 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
13 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.63 HLA-DQB1 HLA-DRB1
14 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.63 HLA-A HLA-B HLA-C
15 hemidesmosome assembly GO:0031581 9.62 COL17A1 DST
16 antigen processing and presentation of endogenous peptide antigen via MHC class Ib GO:0002476 9.61 HLA-A HLA-B HLA-C
17 keratinization GO:0031424 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
18 desmosome organization GO:0002934 9.59 DSG2 DSP
19 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.58 HLA-DQB1 HLA-DRB1
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.58 HLA-A HLA-B
21 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.58 DSC2 DSG2 DSP
22 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.56 HLA-DQB1 HLA-DRB1
23 antigen processing and presentation GO:0019882 9.55 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
24 cornification GO:0070268 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
25 cell adhesion GO:0007155 10.04 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
26 immune response GO:0006955 10.02 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
27 neutrophil degranulation GO:0043312 10.01 DSC1 DSG1 DSP HLA-B HLA-C

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 structural molecule activity GO:0005198 9.56 DSP DST EVPL PPL
3 MHC class II receptor activity GO:0032395 9.32 HLA-DQB1 HLA-DRB1
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 DSC2 DSG2 DSP
5 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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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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