MCID: PRN049
MIFTS: 43

Paraneoplastic Pemphigus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 59 17 72

Characteristics:

Orphanet epidemiological data:

59
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 L10.8
UMLS via Orphanet 73 C1112570
Orphanet 59 ORPHA63455
UMLS 72 C1112570

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to follicular dendritic cell sarcoma and lichen planus. 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. The drugs Immunologic Factors and Autoantibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and t cells, and related phenotypes are skin erosion and oral ulcer

Wikipedia : 75 Paraneoplastic pemphigus (PNP) 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 219)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.6 PPL EVPL DSP
2 lichen planus 31.5 DST DSG3 COL17A1
3 lichen planus pemphigoides 31.1 DST COL17A1
4 pemphigus vegetans 30.9 PPL DSG1 DSC3
5 linear iga disease 30.8 DST COL17A1
6 autoimmune disease 30.6 HLA-DRB1 HLA-DQB1 DSG1 COL17A1
7 pemphigus 30.5 PPL EVPL DST DSP DSG3 DSG2
8 severe cutaneous adverse reaction 30.2 HLA-C HLA-B HLA-A
9 pemphigus foliaceus 30.2 PPL HLA-DRB1 EVPL DST DSG3 DSG2
10 stevens-johnson syndrome/toxic epidermal necrolysis 30.2 HLA-C HLA-B HLA-A
11 herpes zoster 29.9 HLA-B HLA-A COL17A1
12 human herpesvirus 8 29.6 HLA-C HLA-B HLA-A
13 autoimmune hepatitis 29.6 HLA-DRB1 HLA-DQB1 HLA-A
14 bullous pemphigoid 29.3 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
15 bullous skin disease 29.0 PPL EVPL DST DSP DSG3 DSG1
16 graft-versus-host disease 28.9 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
17 skin disease 28.3 HLA-C HLA-B DST DSP DSG3 DSG1
18 pemphigus vulgaris, familial 10.8
19 pemphigus erythematosus 10.7 DSP DSG3
20 bronchiolitis 10.7
21 bronchiolitis obliterans 10.7
22 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.7 DSP DSG1
23 lymphocytic leukemia 10.6
24 bullous impetigo 10.6 DSG3 DSG1
25 leukemia, chronic lymphocytic 10.6
26 respiratory failure 10.6
27 stomatitis 10.6
28 leukemia, b-cell, chronic 10.6
29 erythema multiforme 10.6
30 castleman disease 10.6
31 lymphoma 10.5
32 palmoplantar keratoderma and woolly hair 10.5 DSP DSC2
33 herpetiform pemphigus 10.5 DST DSG3 DSG1
34 sarcoma 10.5
35 transverse colon cancer 10.5 DSC3 DSC2
36 spindle cell sarcoma 10.5
37 neurotic excoriation 10.5 DST COL17A1
38 naxos disease 10.5 DSP DSC2
39 thymoma, familial 10.5
40 thymoma 10.5
41 cardiomyopathy, dilated, with woolly hair and keratoderma 10.5 DSP DSG1 DSC2
42 b-cell lymphoma 10.5
43 follicular lymphoma 10.4
44 ectodermal dysplasia/skin fragility syndrome 10.4 DSP DSC2
45 ritter's disease 10.4 DSG2 DSG1
46 striate palmoplantar keratoderma 10.4 DSP DSG1
47 inflammatory myofibroblastic tumor 10.4
48 lichen disease 10.4 DST DSG1 COL17A1
49 conjunctivitis 10.4
50 arrhythmogenic right ventricular dysplasia, familial, 1 10.4 DSP DSG2

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
2 oral ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0000155
3 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
4 sarcoma 59 32 frequent (33%) Frequent (79-30%) HP:0100242
5 thymoma 59 32 frequent (33%) Frequent (79-30%) HP:0100522
6 b-cell lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0012191
7 abnormal blistering of the skin 59 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 DSC1 DST HLA-B HLA-DQB1

Drugs & Therapeutics for Paraneoplastic Pemphigus

Drugs for Paraneoplastic Pemphigus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors
2 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Controlled Cross Sectional Study: Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Completed NCT03129308

Search NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

Anatomical Context for Paraneoplastic Pemphigus

MalaCards organs/tissues related to Paraneoplastic Pemphigus:

41
Skin, B Cells, T Cells, Lung, Testes, Bone, Bone Marrow

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 599)
# Title Authors PMID Year
1
[Paraneoplastic skin diseases]. 38
31273399 2019
2
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. 38
29389687 2019
3
Rituximab as a dual therapeutic option for pemphigus and primary cutaneous B-cell lymphomas: Two case reports. 38
31025498 2019
4
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 38
31313078 2019
5
Cutaneous Disorders Associated with Castleman's Disease. 38
31282978 2019
6
Paraneoplastic pemphigus and myasthenia gravis as the first manifestations of a rare case of pancreatic follicular dendritic cell sarcoma: CT findings and review of literature. 38
31200650 2019
7
Risk factors for death and survival in paraneoplastic pemphigus associated with hematologic malignancies in adults. 38
30981429 2019
8
Oral lichen planus: A disease or a spectrum of tissue reactions? Types, causes, diagnostic algorhythms, prognosis, management strategies. 38
31090143 2019
9
Mucous membrane pemphigoid and oral blistering diseases. 38
31102296 2019
10
A rare association of paraneoplastic pemphigus with gastric signet cell ring carcinoma. 38
30515763 2019
11
Decreased recognition of paraneoplastic pemphigus in patients previously treated with anti-CD 20 monoclonal antibodies. 38
30648258 2019
12
Paraneoplastic pemphigus presenting lichen planus-like lesions. 38
30216496 2019
13
Review of paraneoplastic syndromes in children. 38
30877339 2019
14
Development of an electronic medical record-based algorithm to identify patients with Stevens-Johnson syndrome and toxic epidermal necrolysis in Japan. 38
31408480 2019
15
Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus. 38
31275323 2019
16
[Follicular lymphoma accompanied by paraneoplastic pemphigus and bronchiolitis obliterans: a case report]. 38
30726827 2019
17
Paraneoplastic Pemphigus: Paraneoplastic Autoimmune Disease of the Skin and Mucosa. 38
31214197 2019
18
Masked pemphigus among pediatric patients with Castleman's disease. 38
30411519 2019
19
Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies. 38
29885912 2018
20
[Paraneoplastic pemphigus: Retrospective study of a case series]. 38
30126641 2018
21
Paraneoplastic pemphigus foliaceus related to underlying breast cancer. 38
29770472 2018
22
Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. 38
30103046 2018
23
Suprabasal acantholytic dermatologic toxicities associated checkpoint inhibitor therapy: A spectrum of immune reactions from paraneoplastic pemphigus-like to Grover-like lesions. 38
29943453 2018
24
Pemphigus vulgaris as the first manifestation of multiple myeloma: a case report. 38
30189893 2018
25
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. 38
29526963 2018
26
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report. 38
30165900 2018
27
Paraneoplastic pemphigus in Russian patients: a single center case series. 38
29797440 2018
28
[Small lymphocytic lymphoma with paraneoplastic pemphigus: a case report and literature review]. 38
30122024 2018
29
Lichenoid paraneoplastic pemphigus associated with follicular lymphoma without detectable autoantibodies. 38
29761536 2018
30
Clinical, immunological profile and follow up of patients with pemphigus: A study from India. 38
29536971 2018
31
Paraneoplastic Pemphigus Associated With Castleman Disease Detected by 18F-FDG PET/CT. 38
29561527 2018
32
Paraneoplastic Pemphigus as a First Manifestation of an Intra-Abdominal Follicular Dendritic Cell Sarcoma: Rare Case and Review of the Literature. 38
29928216 2018
33
Correction: Paraneoplastic autoimmune multiorgan syndrome and paraneoplastic pemphigus describe the same spectrum of disease pathology. 38
29749393 2018
34
Pemphigus group: overview, epidemiology, mortality, and comorbidities. 38
29479654 2018
35
Blistering diseases in the mature patient. 38
29566927 2018
36
Paraneoplastic pemphigus without detectable anti-plakin antibodies in a patient with non-Hodgkin lymphoma. 38
29143865 2018
37
Paraneoplastic pemphigus without antibodies to desmoglein 1 and 3. 38
29630151 2018
38
Paraneoplastic pemphigus with anti-desmocollin 3 autoantibodies and chronic lymphocytic leukemia. 38
29599682 2018
39
[Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report]. 38
29562442 2018
40
Paraneoplastic pemphigus seen in four patients with haematological malignancies formerly treated with rituximab. 38
28758262 2018
41
Is tocilizumab a potential therapeutic option for refractory unicentric Castleman disease? 38
28401573 2018
42
Image Gallery: Paraneoplastic pemphigus and follicular dendritic cell sarcoma. 38
29441554 2018
43
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. 38
27537424 2018
44
Unicentric castleman disease complicated by paraneoplastic bronchiolitis obliterans and pemphigus. 38
30128272 2018
45
Paraneoplastic pemphigus mimicking toxic epidermal necrolysis: An underdiagnosed entity? 38
29387753 2018
46
Diagnosis of Autoimmune Blistering Diseases. 38
30450358 2018
47
Rituximab and intravenous immunoglobulin as alternatives to long-term systemic corticosteroids in the treatment of pemphigus: a single center case series of 63 patients. 38
29447653 2018
48
Routine detection of serum antidesmocollin autoantibodies is only useful in patients with atypical pemphigus. 38
28815795 2017
49
Paraneoplastic Pemphigus. A Life-Threatening Autoimmune Blistering Disease. 38
28801011 2017
50
Paraneoplastic Pemphigus in a 34-year-old. 38
29447659 2017

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 PPL EVPL DSP DSG3 DSG2 DSG1
2
Show member pathways
12.76 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3
Show member pathways
12.63 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
4
Show member pathways
12.35 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
5 12.11 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
6 11.82 HLA-C HLA-B HLA-A
7
Show member pathways
11.8 DSP DSG3 DSG2 DSG1
8
Show member pathways
11.74 PPL EVPL DST DSP
9 11.74 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
10
Show member pathways
11.73 PPL EVPL DSP DSG3 DSG2 DSG1
11 11.64 HLA-DRB1 HLA-DQB1 DSG1
12 11.52 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
13 10.9 HLA-C HLA-B HLA-A

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 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A BLZF1
2 cell surface GO:0009986 9.98 HLA-DRB1 HLA-C HLA-B HLA-A DSG2
3 cell junction GO:0030054 9.9 PPL EVPL DST DSP DSG3 DSG2
4 cell-cell junction GO:0005911 9.85 DSP DSG2 DSG1 DSC3 COL17A1
5 intermediate filament GO:0005882 9.84 PPL EVPL DST DSP
6 recycling endosome membrane GO:0055038 9.75 HLA-C HLA-B HLA-A
7 phagocytic vesicle membrane GO:0030670 9.74 HLA-C HLA-B HLA-A
8 ficolin-1-rich granule membrane GO:0101003 9.72 DSP DSG1 DSC1
9 ER to Golgi transport vesicle membrane GO:0012507 9.72 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
10 intercalated disc GO:0014704 9.7 DSP DSG2 DSC2
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.65 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
12 MHC class I protein complex GO:0042612 9.61 HLA-C HLA-B HLA-A
13 desmosome GO:0030057 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
14 MHC class II protein complex GO:0042613 9.59 HLA-DRB1 HLA-DQB1
15 hemidesmosome GO:0030056 9.56 DST COL17A1
16 cornified envelope GO:0001533 9.28 PPL EVPL DSP DSG3 DSG2 DSG1
17 membrane GO:0016020 10.41 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
18 integral component of membrane GO:0016021 10.34 MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
19 plasma membrane GO:0005886 10.27 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
20 extracellular exosome GO:0070062 10.18 PPL HLA-DRB1 HLA-C HLA-B HLA-A EVPL

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

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 DST DSG3 DSG2 DSG1 DSC3 DSC2
2 structural molecule activity GO:0005198 9.56 PPL EVPL DST DSP
3 MHC class II receptor activity GO:0032395 9.32 HLA-DRB1 HLA-DQB1
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 DSP DSG2 DSC2
5 peptide antigen binding GO:0042605 9.02 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A

Sources for Paraneoplastic Pemphigus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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