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 58 17 71

Characteristics:

Orphanet epidemiological data:

58
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 L10.8
UMLS via Orphanet 72 C1112570
Orphanet 58 ORPHA63455
UMLS 71 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 lung, and related phenotypes are oral ulcer and skin erosion

Wikipedia : 74 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 253)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.1 PPL EVPL DSP DSG3
2 lichen planus 31.0 DST DSG3 DSG1 COL17A1
3 castleman disease 31.0 PPL EVPL DSP DSG3 DSG1
4 lichen planus pemphigoides 30.9 DST COL17A1
5 linear iga disease 30.6 DST COL17A1
6 pemphigus vegetans 30.6 PPL DSG1 DSC3
7 pseudomembranous conjunctivitis 30.4 EVPL DSP A2ML1
8 pemphigus foliaceus 30.2 PPL HLA-DRB1 EVPL DST DSG3 DSG2
9 hidradenitis 29.9 DSG3 DSG1 DSC2 DSC1
10 hidradenitis suppurativa 29.9 DSG3 DSG1 DSC2 DSC1
11 stevens-johnson syndrome/toxic epidermal necrolysis 29.9 HLA-C HLA-B HLA-A
12 iga pemphigus 29.8 PPL EVPL DSG3 DSG1 DSC3 DSC1
13 ocular cicatricial pemphigoid 29.4 HLA-DRB1 HLA-DQB1
14 pemphigus 29.4 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
15 herpes zoster 29.3 HLA-DRB1 HLA-B HLA-A COL17A1
16 bullous pemphigoid 29.3 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
17 cicatricial pemphigoid 29.2 HLA-DRB1 HLA-DQB1 DST COL17A1
18 autoimmune hepatitis 29.2 HLA-DRB1 HLA-DQB1 HLA-A
19 pemphigus vulgaris, familial 29.0 PPL HLA-DRB1 EVPL DST DSP DSG3
20 autoimmune disease 29.0 HLA-DRB1 HLA-DQB1 HLA-B HLA-A DSG3 DSG1
21 severe cutaneous adverse reaction 28.7 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
22 graft-versus-host disease 28.6 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
23 bullous skin disease 28.3 PPL EVPL DST DSP DSG3 DSG2
24 skin disease 28.2 HLA-C HLA-B DST DSP DSG3 DSG2
25 bronchiolitis 10.7
26 bronchiolitis obliterans 10.7
27 lymphocytic leukemia 10.6
28 leukemia, chronic lymphocytic 10.6
29 respiratory failure 10.6
30 stomatitis 10.6
31 erythema multiforme 10.6
32 lymphoma 10.5
33 sarcoma 10.5
34 pemphigus erythematosus 10.5 DSP DSG3
35 thymoma, familial 10.5
36 thymoma 10.5
37 spindle cell sarcoma 10.5
38 b-cell lymphoma 10.5
39 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSP DSG1
40 bullous impetigo 10.4 DSG3 DSG1
41 follicular lymphoma 10.4
42 arrhythmogenic right ventricular dysplasia, familial, 1 10.4 DSP DSG2
43 striate palmoplantar keratoderma 10.4 DSP DSG1
44 inflammatory myofibroblastic tumor 10.4
45 palmoplantar keratoderma and woolly hair 10.4 DSP DSC2
46 lymphoma, hodgkin, classic 10.4
47 conjunctivitis 10.4
48 diffuse palmoplantar keratoderma 10.4 DSP DSG1
49 lymphoma, non-hodgkin, familial 10.4
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4

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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0000155
2 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
3 oral mucosal blisters 58 31 hallmark (90%) Very frequent (99-80%) HP:0200097
4 sarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0100242
5 thymoma 58 31 frequent (33%) Frequent (79-30%) HP:0100522
6 b-cell lymphoma 58 31 frequent (33%) Frequent (79-30%) HP:0012191
7 abnormal blistering of the skin 58 Very frequent (99-80%)

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.1 HLA-A HLA-B HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.1 HLA-A HLA-B HLA-C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.1 HLA-A HLA-B HLA-C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.1 HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.1 HLA-C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.1 HLA-C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.1 HLA-A HLA-B HLA-C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.1 HLA-A HLA-B HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.1 HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.1 HLA-A HLA-B HLA-C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.1 HLA-C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.1 HLA-A HLA-B HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.1 HLA-A HLA-B HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.1 HLA-C

MGI Mouse Phenotypes related to Paraneoplastic Pemphigus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 DSC1 DSC3 DSG1 DSG2 DSG3 DSP

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:

40
Skin, B Cells, Lung, T Cells, Bone, Bone Marrow, Myeloid

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 610)
# Title Authors PMID Year
1
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 61
31313078 2019
2
Refractory mucositis associated with underlying follicular dendritic cell sarcoma of the thymus: Paraneoplastic pemphigus versus malignancy-exacerbated pemphigus vulgaris. 61
31687457 2019
3
Bullous Diseases in Children: A Review of Clinical Features and Treatment Options. 61
31506891 2019
4
Cutaneous Disorders Associated with Castleman's Disease. 61
31282978 2019
5
Mucous membrane pemphigoid and oral blistering diseases. 61
31102296 2019
6
Synchronous retroperitoneal Castleman's disease with clear cell renal cell carcinoma. 61
31527211 2019
7
Castleman's disease. Large retroperitoneal masses and multiple calcifications detected by 18F-FDG PET/CT. 61
31587031 2019
8
Follicular dendritic cell sarcoma aggravated by hyaline-vascular Castleman's disease in association with paraneoplastic pemphigus: study of the tumor and successful treatment. 61
31777359 2019
9
Persistence of antienvoplakin and antiperiplakin antibodies in a patient with paraneoplastic pemphigus 20 years after remission. 61
31529517 2019
10
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. 61
29389687 2019
11
[Paraneoplastic skin diseases]. 61
31273399 2019
12
Rituximab as a dual therapeutic option for pemphigus and primary cutaneous B-cell lymphomas: Two case reports. 61
31025498 2019
13
Oral lichen planus: A disease or a spectrum of tissue reactions? Types, causes, diagnostic algorhythms, prognosis, management strategies. 61
31090143 2019
14
Risk factors for death and survival in paraneoplastic pemphigus associated with hematologic malignancies in adults. 61
30981429 2019
15
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. 61
31200650 2019
16
Paraneoplastic Pemphigus with Underlying Castleman's Disorder: A Rare Report with Literature Review. 61
31501721 2019
17
Decreased recognition of paraneoplastic pemphigus in patients previously treated with anti-CD 20 monoclonal antibodies. 61
30648258 2019
18
A rare association of paraneoplastic pemphigus with gastric signet cell ring carcinoma. 61
30515763 2019
19
Paraneoplastic pemphigus presenting lichen planus-like lesions. 61
30216496 2019
20
Review of paraneoplastic syndromes in children. 61
30877339 2019
21
Development of an electronic medical record-based algorithm to identify patients with Stevens-Johnson syndrome and toxic epidermal necrolysis in Japan. 61
31408480 2019
22
Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus. 61
31275323 2019
23
[Follicular lymphoma accompanied by paraneoplastic pemphigus and bronchiolitis obliterans: a case report]. 61
30726827 2019
24
Radiation-Associated Pemphigus Vulgaris in a Patient With Preceding Malignancy: Treatment With Rituximab as a Valuable Option. 61
32038636 2019
25
Paraneoplastic pemphigus: a clinical, laboratorial, and therapeutic overview. 61
31644609 2019
26
Paraneoplastic Pemphigus: Paraneoplastic Autoimmune Disease of the Skin and Mucosa. 61
31214197 2019
27
Paraneoplastic Pemphigus Revealed by Anti-programmed Death-1 Pembrolizumab Therapy for Cutaneous Squamous Cell Carcinoma Complicating Hidradenitis Suppurativa. 61
31750309 2019
28
Pemphigus erythematosus and cutaneous epitheliotropic lymphoma in a Labrador Retriever dog. 61
31656530 2019
29
Masked pemphigus among pediatric patients with Castleman's disease. 61
30411519 2019
30
Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies. 61
29885912 2018
31
[Paraneoplastic pemphigus: Retrospective study of a case series]. 61
30126641 2018
32
Suprabasal acantholytic dermatologic toxicities associated checkpoint inhibitor therapy: A spectrum of immune reactions from paraneoplastic pemphigus-like to Grover-like lesions. 61
29943453 2018
33
Paraneoplastic pemphigus foliaceus related to underlying breast cancer. 61
29770472 2018
34
Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. 61
30103046 2018
35
Pemphigus vulgaris as the first manifestation of multiple myeloma: a case report. 61
30189893 2018
36
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report. 61
30165900 2018
37
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. 61
29526963 2018
38
Paraneoplastic pemphigus in Russian patients: a single center case series. 61
29797440 2018
39
Lichenoid paraneoplastic pemphigus associated with follicular lymphoma without detectable autoantibodies. 61
29761536 2018
40
[Small lymphocytic lymphoma with paraneoplastic pemphigus: a case report and literature review]. 61
30122024 2018
41
Clinical, immunological profile and follow up of patients with pemphigus: A study from India. 61
29536971 2018
42
Paraneoplastic Pemphigus Associated With Castleman Disease Detected by 18F-FDG PET/CT. 61
29561527 2018
43
Paraneoplastic Pemphigus as a First Manifestation of an Intra-Abdominal Follicular Dendritic Cell Sarcoma: Rare Case and Review of the Literature. 61
29928216 2018
44
Correction: Paraneoplastic autoimmune multiorgan syndrome and paraneoplastic pemphigus describe the same spectrum of disease pathology. 61
29749393 2018
45
Pemphigus group: overview, epidemiology, mortality, and comorbidities. 61
29479654 2018
46
Blistering diseases in the mature patient. 61
29566927 2018
47
Paraneoplastic pemphigus without detectable anti-plakin antibodies in a patient with non-Hodgkin lymphoma. 61
29143865 2018
48
Paraneoplastic pemphigus without antibodies to desmoglein 1 and 3. 61
29630151 2018
49
[Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report]. 61
29562442 2018
50
Paraneoplastic pemphigus with anti-desmocollin 3 autoantibodies and chronic lymphocytic leukemia. 61
29599682 2018

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
13.19 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
12.65 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
4
Show member pathways
12.6 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
5 12.57 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
6
Show member pathways
12.35 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
7 12 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
8
Show member pathways
11.8 DSP DSG3 DSG2 DSG1
9
Show member pathways
11.74 PPL EVPL DST DSP
10 11.74 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
11
Show member pathways
11.73 PPL EVPL DSP DSG3 DSG2 DSG1
12 11.69 HLA-DRB1 HLA-DQB1 DSG1
13 11.52 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
14 10.94 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 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
2 integral component of membrane GO:0016021 10.34 MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3 plasma membrane GO:0005886 10.34 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
4 extracellular exosome GO:0070062 10.18 PPL HLA-DRB1 HLA-C HLA-B HLA-A EVPL
5 cell junction GO:0030054 10 PPL EVPL DST DSP DSG3 DSG2
6 cell surface GO:0009986 9.98 HLA-DRB1 HLA-C HLA-B HLA-A DSG2
7 intermediate filament GO:0005882 9.84 PPL EVPL DST DSP
8 ER to Golgi transport vesicle membrane GO:0012507 9.77 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
9 cell-cell junction GO:0005911 9.76 DSP DSG3 DSG2 DSG1 DSC3 DSC2
10 recycling endosome membrane GO:0055038 9.74 HLA-C HLA-B HLA-A
11 phagocytic vesicle membrane GO:0030670 9.73 HLA-C HLA-B HLA-A
12 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.72 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
13 ficolin-1-rich granule membrane GO:0101003 9.7 DSP DSG1 DSC1
14 intercalated disc GO:0014704 9.69 DSP DSG2 DSC2
15 MHC class I protein complex GO:0042612 9.65 HLA-C HLA-B HLA-A
16 desmosome GO:0030057 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
17 MHC class II protein complex GO:0042613 9.58 HLA-DRB1 HLA-DQB1
18 hemidesmosome GO:0030056 9.55 DST COL17A1
19 cornified envelope GO:0001533 9.28 PPL EVPL DSP DSG3 DSG2 DSG1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.04 DST DSG3 DSG2 DSG1 DSC3 DSC2
2 immune system process GO:0002376 10.03 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3 immune response GO:0006955 10.01 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
4 neutrophil degranulation GO:0043312 10 HLA-C HLA-B DSP DSG1 DSC1
5 regulation of immune response GO:0050776 9.89 HLA-C HLA-B HLA-A COL17A1
6 wound healing GO:0042060 9.81 PPL EVPL DST DSP
7 epidermis development GO:0008544 9.8 EVPL DSP COL17A1
8 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSG3 DSG2 DSG1 DSC3 DSC2 DSC1
9 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.78 HLA-C HLA-B HLA-A
10 interferon-gamma-mediated signaling pathway GO:0060333 9.77 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
11 type I interferon signaling pathway GO:0060337 9.76 HLA-C HLA-B HLA-A
12 regulation of heart rate by cardiac conduction GO:0086091 9.71 DSP DSG2 DSC2
13 intermediate filament cytoskeleton organization GO:0045104 9.71 PPL EVPL DST DSP
14 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.7 HLA-C HLA-B HLA-A
15 cell-cell adhesion GO:0098609 9.7 DSP DSG3 DSG2 DSG1 DSC3 DSC2
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 DSP DSG2 DSC2
17 antigen processing and presentation GO:0019882 9.65 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
18 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.63 HLA-C HLA-B HLA-A
19 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.62 HLA-DRB1 HLA-DQB1
20 hemidesmosome assembly GO:0031581 9.62 DST COL17A1
21 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.61 DSP DSG2 DSC2
22 keratinization GO:0031424 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
23 protection from natural killer cell mediated cytotoxicity GO:0042270 9.58 HLA-B HLA-A
24 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.57 HLA-DRB1 HLA-DQB1
25 desmosome organization GO:0002934 9.56 DSP DSG2
26 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.55 HLA-DRB1 HLA-DQB1
27 cornification GO:0070268 9.28 PPL EVPL DSP DSG3 DSG2 DSG1

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 gamma-catenin binding GO:0045295 9.32 DSG1 DSC3
3 MHC class II receptor activity GO:0032395 9.26 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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