MCID: PRN049
MIFTS: 40

Paraneoplastic Pemphigus malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

Aliases & Descriptions 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 b-cell lymphomas and hepatitis, 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 : 71 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 141)
id Related Disease Score Top Affiliating Genes
1 b-cell lymphomas 30.1 HLA-A HLA-DQB1 HLA-DRB1
2 hepatitis 29.3 HLA-A HLA-B HLA-C HLA-DRB1
3 pemphigus 11.6
4 lymphoma 10.4
5 x-linked intellectual disability-precocious puberty-obesity syndrome 10.3 DSG3 DSP
6 cardiomyopathy, dilated, 1bb 10.3 DSG1 DSP
7 pneumonia caused by pseudomonas aeruginosa infection 10.3 DSG1 DSP
8 codas syndrome 10.3 DSC2 DSP
9 immunodeficiency by defective expression of hla class 1 10.3 DSG1 DSG3
10 myalgia-eosinophilia syndrome associated with tryptophan 10.3 DSG1 DSG3 DST
11 choanal atresia and lymphedema 10.3 DSC2 DSP
12 bronchiolitis 10.2
13 klippel-feil syndrome 2 10.2 DSC2 DSP
14 apple allergy 10.2 HLA-DQB1 HLA-DRB1
15 lipoma 10.2 DSC2 DSG1 DSP
16 hemoglobin d disease 10.2 HLA-DQB1 HLA-DRB1
17 bronchiolitis obliterans 10.2
18 sarcoma 10.2
19 bilateral parasagittal parieto-occipital polymicrogyria 10.2 HLA-DQB1 HLA-DRB1
20 fibular hemimelia, bilateral 10.2 DSC2 DSG2 DSP
21 fibular hemimelia, unilateral 10.2 DSC2 DSG2 DSP
22 congenital absence of upper arm and forearm with hand present, bilateral 10.2 DSC2 DSG2 DSP
23 midline interhemispheric variant of holoprosencephaly 10.2 HLA-DQB1 HLA-DRB1
24 esophagus carcinoma in situ 10.2 DSG1 DSG2
25 pemphigus vulgaris 10.2
26 mirizzi syndrome 10.2 HLA-B HLA-DRB1
27 solid pseudopapillary carcinoma of pancreas 10.2 HLA-A HLA-B
28 pervasive developmental disorder 10.2 DSC2 DSG2 DSP
29 x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 10.2 DSC3 DSG1 PPL
30 follicular dendritic cell sarcoma 10.2
31 linear hamartoma syndrome 10.2 COL17A1 DST
32 rete testis adenocarcinoma 10.2 HLA-A HLA-DQB1
33 myopathy, congenital nonprogressive, with moebius sequence and robin sequence 10.2 HLA-A HLA-B
34 autosomal dominant intermediate charcot-marie-tooth 10.1 HLA-DQB1 HLA-DRB1
35 immune deficiency, familial variable 10.1 HLA-B HLA-DQB1 HLA-DRB1
36 cervical adenoid basal carcinoma 10.1 HLA-B HLA-DQB1 HLA-DRB1
37 renal agenesis meningomyelocele mullerian defect 10.1 HLA-DQB1 HLA-DRB1
38 cryptococcosis 10.1 HLA-B HLA-DQB1 HLA-DRB1
39 leukemia 10.1
40 lichen planus 10.1
41 microscopic breast papilloma 10.1 DSP HLA-B HLA-DQB1
42 lipoblastoma 10.1 COL17A1 DST
43 sacral nerve root cysts 10.1 HLA-A HLA-B HLA-DRB1
44 acute cholangitis 10.1 HLA-B HLA-C HLA-DRB1
45 oral cavity cancer 10.1 COL17A1 DSG1 DST
46 castleman disease 10.1
47 thymoma 10.1
48 mucositis 10.1
49 hernia of ovary and fallopian tube 10.1 HLA-A HLA-B HLA-DRB1
50 peptidic growth factors deficiency 10.1 COL17A1 DST 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 Very frequent (99-80%) HP:0000155
2 b-cell lymphoma 56 32 Frequent (79-30%) HP:0012191
3 sarcoma 56 32 Frequent (79-30%) HP:0100242
4 thymoma 56 32 Frequent (79-30%) HP:0100522
5 skin erosion 56 32 Very frequent (99-80%) HP:0200041
6 oral mucosal blisters 56 32 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-A HLA-B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.14 HLA-C HLA-A HLA-B
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-A HLA-C HLA-B
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:

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 325)
id Title Authors Year
1
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. ( 26969813 )
2016
2
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. ( 27427435 )
2016
3
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. ( 27014502 )
2016
4
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. ( 27270550 )
2016
5
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. ( 27537424 )
2016
6
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. ( 27812271 )
2016
7
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. ( 27352260 )
2016
8
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. ( 27406120 )
2016
9
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. ( 27878477 )
2016
10
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. ( 27525088 )
2016
11
Paraneoplastic pemphigus with anti-BP180 autoantibodies and Castleman's disease. ( 27436786 )
2016
12
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. ( 27115591 )
2016
13
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. ( 27190659 )
2016
14
Paraneoplastic pemphigus: a short review. ( 27729809 )
2016
15
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. ( 26946347 )
2016
16
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26802236 )
2016
17
Inflammatory myofibroblastic tumor presenting as paraneoplastic pemphigus in a 7-year-old girl. ( 27051823 )
2016
18
Direct and indirect immunofluorescence staining patterns in the diagnosis of paraneoplastic pemphigus. ( 26556228 )
2015
19
Paraneoplastic pemphigus: two cases of intra-abdominal malignancy presenting solely as treatment refractory oral ulceration. ( 25557248 )
2015
20
Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26480281 )
2015
21
Not paraneoplastic pemphigus but pemphigus vulgaris in a patient with thymoma. ( 26002672 )
2015
22
Comparative study of five serological assays for the diagnosis of paraneoplastic pemphigus. ( 25474518 )
2015
23
Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26358412 )
2015
24
Reply to: Clinical and immunological findings in 104 cases of paraneoplastic pemphigus. ( 26473404 )
2015
25
Production of numerous autoantibodies in paraneoplastic pemphigus. ( 25827731 )
2015
26
Paraneoplastic Pemphigus: Autoimmune-Cancer Nexus in the Skin. ( 26179266 )
2015
27
Paraneoplastic pemphigus: an entity still in search of an identity? ( 26708542 )
2015
28
Gastric Cancer and Paraneoplastic Pemphigus. ( 26884668 )
2015
29
Rituximab Monotherapy and Rituximab-Containing Chemotherapy Were Effective for Paraneoplastic Pemphigus Accompanying Follicular Lymphoma, but not for Subsequent Bronchiolitis Obliterans. ( 26490520 )
2015
30
Evaluation of a Newly Available ELISA for Envoplakin Autoantibodies for the Diagnosis of Paraneoplastic Pemphigus. ( 26461820 )
2015
31
Paraneoplastic pemphigus as a first sign of metastatic retroperitoneal inflammatory myofibroblastic tumor: (18)F-FDG PET/CT findings. ( 26740314 )
2015
32
Paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: report of a case and review of literature. ( 26722384 )
2015
33
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and intractable mucosal erosions: Treatment with cyclosporin in addition to steroid, rituximab and intravenous immunoglobulin. ( 26506947 )
2015
34
Clinical and laboratory characterization of 114 cases of Castleman disease patients from a single centre: paraneoplastic pemphigus is an unfavourable prognostic factor. ( 25824806 )
2015
35
Castleman's Disease with Paraneoplastic Pemphigus. ( 25071278 )
2014
36
Paraneoplastic pemphigus associated with metastatic lymphoepithelioma-like carcinoma originating from the thyroid gland. ( 25112893 )
2014
37
Prevalence of myasthenia gravis and associated autoantibodies in paraneoplastic pemphigus and their correlations with symptoms and prognosis. ( 25388377 )
2014
38
Paraneoplastic pemphigus associated with fatal bronchiolitis obliterans and appearance of anti-BP180 antibodies in the late stage of the disease. ( 24985544 )
2014
39
Paraneoplastic pemphigus in patient infected with the human immunodeficiency virus. ( 23758217 )
2014
40
The importance of multidisciplinary healthcare for paraneoplastic pemphigus. ( 25257550 )
2014
41
Paraneoplastic pemphigus as the first manifestation of follicular dendritic cell sarcoma. ( 24119156 )
2014
42
Recalcitrant paraneoplastic pemphigus associated with follicular dendritic cell sarcoma: response to prolonged rituximab and ciclosporin therapy. ( 25367731 )
2014
43
Anti-desmoglein antibody-negative paraneoplastic pemphigus successfully treated with rituximab. ( 24738571 )
2014
44
Paraneoplastic pemphigus associated with inflammatory myofibroblastic tumour of the mediastinum: A favourable response to treatment and review of the literature. ( 25369175 )
2014
45
Mediastinal follicular dendritic cell sarcoma with paraneoplastic pemphigus. ( 25406405 )
2014
46
Immunological and statistical studies of anti-BP180 antibodies in paraneoplastic pemphigus. ( 24658507 )
2014
47
Paraneoplastic pemphigus occurs most commonly in indolent B cell lymphoma. ( 24481059 )
2014
48
Paraneoplastic pemphigus occurring after bendamustine and rituximab therapy for relapsed follicular lymphoma. ( 25199505 )
2014
49
Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment. ( 25388966 )
2014
50
Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3. ( 24635070 )
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 20)
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 early endosome membrane GO:0031901 9.77 HLA-A HLA-B HLA-C
6 phagocytic vesicle membrane GO:0030670 9.74 HLA-A HLA-B HLA-C
7 ficolin-1-rich granule membrane GO:0101003 9.72 DSC1 DSG1 DSP
8 ER to Golgi transport vesicle membrane GO:0012507 9.72 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
9 recycling endosome membrane GO:0055038 9.71 HLA-A HLA-B HLA-C
10 intercalated disc GO:0014704 9.69 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 desmosome GO:0030057 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
14 MHC class II protein complex GO:0042613 9.58 HLA-DQB1 HLA-DRB1
15 hemidesmosome GO:0030056 9.56 COL17A1 DST
16 cornified envelope GO:0001533 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
17 membrane GO:0016020 10.4 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
18 integral component of membrane GO:0016021 10.37 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
19 plasma membrane GO:0005886 10.31 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
20 extracellular exosome GO:0070062 10.21 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
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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43 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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