MCID: PRN049
MIFTS: 41

Paraneoplastic Pemphigus

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 56 69

Characteristics:

Orphanet epidemiological data:

56
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA63455
UMLS via Orphanet 70 C1112570
ICD10 via Orphanet 34 L10.8

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to pemphigus and x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, 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 phenotype is 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 146)
id Related Disease Score Top Affiliating Genes
1 pemphigus 11.6
2 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 10.8 DSG3 DSP
3 arrhythmogenic right ventricular dysplasia 10 10.8 DSG1 DSP
4 isolated scaphocephaly 10.7 DSG1 DSG3
5 hypercholesterolemia, familial 10.7 DSC2 DSP
6 ectodermal dysplasia/skin fragility syndrome 10.6 DSC2 DSP
7 intellectual disability-short stature-hypertelorism syndrome 10.6 DSG1 DSG3 DST
8 lethal midline granuloma 10.6 DSG1 DSG2
9 arrhythmogenic right ventricular dysplasia 12 10.6 DSC2 DSP
10 fruit allergy 10.6 HLA-DQB1 HLA-DRB1
11 idiopathic neonatal atrial flutter 10.6 DSG1 DSP
12 retinitis pigmentosa 4, autosomal dominant or recessive 10.6 DSC2 DSG1 DSP
13 breast hemangiopericytoma 10.6 HLA-DQB1 HLA-DRB1
14 biemond syndrome 10.5 HLA-DQB1 HLA-DRB1
15 juvenile sialidosis type 2 10.5 HLA-DQB1 HLA-DRB1
16 ulnar hemimelia, unilateral 10.5 DSC2 DSG2 DSP
17 ulnar hemimelia, bilateral 10.5 DSC2 DSG2 DSP
18 tibial hemimelia, bilateral 10.5 DSC2 DSG2 DSP
19 migraine with brainstem aura 10.5 HLA-B HLA-DRB1
20 reese retinal dysplasia 10.5 HLA-DQB1 HLA-DRB1
21 autoimmune disease of skin and connective tissue 10.5 DSC2 DSG2 DSP
22 mosaic trisomy 1 10.5 HLA-DQB1 HLA-DRB1
23 autoimmune retinopathy 10.4 HLA-DQB1 HLA-DRB1
24 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency 10.4 HLA-A HLA-B
25 lymphoma 10.4
26 limb-body wall complex 10.4 HLA-DQB1 HLA-DRB1
27 cardioskeletal syndrome, kuwaiti type 10.3 HLA-A HLA-B
28 bronchiolitis 10.3
29 ischio-vertebral syndrome 10.3 DSC3 DSG1 PPL
30 bronchiolitis obliterans 10.3
31 transient retinal arterial occlusion 10.3 HLA-DQB1 HLA-DRB1
32 idiopathic subglottic tracheal stenosis 10.2 HLA-B HLA-DQB1 HLA-DRB1
33 lung superior sulcus carcinoma 10.2 DSP HLA-B HLA-DQB1
34 sarcoma 10.2
35 cryptococcosis 10.2 HLA-B HLA-DQB1 HLA-DRB1
36 pemphigus vulgaris 10.2
37 clear cell adenocarcinoma of ovary 10.2 HLA-DQB1 HLA-DRB1
38 ligneous conjunctivitis 10.2 COL17A1 DST
39 follicular dendritic cell sarcoma 10.2
40 usher syndrome 10.2 DSC2 DSG2 DSP
41 leukemia 10.1
42 castleman disease 10.1
43 lip and oral cavity cancer 10.1 COL17A1 DST
44 thymoma 10.1
45 lichen planus 10.1
46 ramsay hunt syndrome i 10.1 HLA-A HLA-B HLA-DRB1
47 acute cholangitis 10.1 HLA-B HLA-C HLA-DRB1
48 rectum carcinoma in situ 10.1 COL17A1 DST
49 mucositis 10.1
50 ovarian surface papilloma 10.1 HLA-DQB1 HLA-DRB1

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:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral ulcer 56 32 hallmark (90%) Very frequent (99-80%) HP:0000155
2 b-cell lymphoma 56 32 frequent (33%) Frequent (79-30%) HP:0012191
3 sarcoma 56 32 frequent (33%) Frequent (79-30%) HP:0100242
4 thymoma 56 32 frequent (33%) Frequent (79-30%) HP:0100522
5 skin erosion 56 32 hallmark (90%) Very frequent (99-80%) HP:0200041
6 oral mucosal blisters 56 32 hallmark (90%) Very frequent (99-80%) HP:0200097
7 abnormal blistering of the skin 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.14 HLA-C HLA-B HLA-A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.14 HLA-C HLA-B HLA-A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.14 HLA-B HLA-A 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-B HLA-A 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-B HLA-A HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.14 HLA-B HLA-A 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-C HLA-B 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-B HLA-A HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.14 HLA-B HLA-A HLA-C
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:

39
Skin, B Cells, T Cells, Lung, Testes, Bone, Bone Marrow

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 337)
id Title Authors Year
1
Clinical Analysis of Unicentric Castleman's Disease with Paraneoplastic Pemphigus and Bronchiolitis Obliterans. ( 28877826 )
2017
2
Successful treatment with bendamustine and rituximab for paraneoplastic pemphigus. ( 28447163 )
2017
3
Paraneoplastic Pemphigus. A Life-Threatening Autoimmune Blistering Disease. ( 28801011 )
2017
4
Achievement of the longest survival of paraneoplastic pemphigus with bronchiolitis obliterans associated with follicular lymphoma using R-CHOP chemotherapy. ( 28791608 )
2017
5
Paraneoplastic pemphigus seen in four patients with haematological malignancies formerly treated with rituximab. ( 28758262 )
2017
6
Paraneoplastic pemphigus associated with Castleman disease: progression from mucous to mucocutaneous lesions with epitope-spreading phenomena. ( 28213962 )
2017
7
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
8
Paraneoplastic pemphigus in two pairs of brothers. ( 28622444 )
2017
9
Paraneoplastic Pemphigus Associated with a Malignant Thymoma: A Case of Persistent and Refractory Oral Ulcerations Following Thymectomy. ( 28392652 )
2017
10
Atypical laboratory presentation of paraneoplastic pemphigus associated with Castleman disease. ( 28367488 )
2017
11
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: A case report. ( 28225504 )
2017
12
A Case Report of Paraneoplastic Pemphigus Associated With Retroperitoneal Inflammatory Myofibroblastic Tumor. ( 28724275 )
2017
13
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. ( 27812271 )
2016
14
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. ( 27878477 )
2016
15
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. ( 27115591 )
2016
16
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. ( 27406120 )
2016
17
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. ( 27190659 )
2016
18
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26802236 )
2016
19
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. ( 26946347 )
2016
20
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman's disease. ( 27436786 )
2016
21
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. ( 27014502 )
2016
22
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. ( 27352260 )
2016
23
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. ( 27537424 )
2016
24
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. ( 27270550 )
2016
25
Paraneoplastic pemphigus: a short review. ( 27729809 )
2016
26
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. ( 27051823 )
2016
27
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. ( 27525088 )
2016
28
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. ( 26969813 )
2016
29
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. ( 27427435 )
2016
30
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. ( 26179266 )
2015
31
Reply to: Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26473404 )
2015
32
Paraneoplastic pemphigus: an entity still in search of an identity? ( 26708542 )
2015
33
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. ( 26740314 )
2015
34
Paraneoplastic pemphigus: two cases of intra-abdominal malignancy presenting solely as treatment refractory oral ulceration. ( 25557248 )
2015
35
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. ( 26002672 )
2015
36
Evaluation of a Newly Available ELISA for Envoplakin Autoantibodies for the Diagnosis of Paraneoplastic Pemphigus. ( 26461820 )
2015
37
Clinical and laboratory characterization of 114 cases of Castleman disease patients from a single centre: paraneoplastic pemphigus is an unfavourable prognostic factor. ( 25824806 )
2015
38
Comparative study of five serological assays for the diagnosis of paraneoplastic pemphigus. ( 25474518 )
2015
39
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and intractable mucosal erosions: Treatment with cyclosporin in addition to steroid, rituximab and intravenous immunoglobulin. ( 26506947 )
2015
40
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: report of a case and review of literature. ( 26722384 )
2015
41
Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26480281 )
2015
42
Gastric Cancer and Paraneoplastic Pemphigus. ( 26884668 )
2015
43
Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26358412 )
2015
44
Direct and indirect immunofluorescence staining patterns in the diagnosis of paraneoplastic pemphigus. ( 26556228 )
2015
45
Production of numerous autoantibodies in paraneoplastic pemphigus. ( 25827731 )
2015
46
Rituximab Monotherapy and Rituximab-Containing Chemotherapy Were Effective for Paraneoplastic Pemphigus Accompanying Follicular Lymphoma, but not for Subsequent Bronchiolitis Obliterans. ( 26490520 )
2015
47
Paraneoplastic pemphigus associated with inflammatory myofibroblastic tumour of the mediastinum: A favourable response to treatment and review of the literature. ( 25369175 )
2014
48
Retroperitoneal Castlemans disease associated with paraneoplastic pemphigus. ( 24333134 )
2014
49
Anti-desmoglein antibody-negative paraneoplastic pemphigus successfully treated with rituximab. ( 24738571 )
2014
50
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and appearance of anti-BP180 antibodies in the late stage of the disease. ( 24985544 )
2014

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)
id 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
11.82 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 11.42 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 19)
id 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 9.72 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 9.56 COL17A1 DST
15 desmosome GO:0030057 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
16 membrane GO:0016020 10.4 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
17 integral component of membrane GO:0016021 10.36 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)
id 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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