MCID: PRN049
MIFTS: 40

Paraneoplastic Pemphigus malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Paraneoplastic Pemphigus

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 51 65

Characteristics:

Orphanet epidemiological data:

51
paraneoplastic pemphigus:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 63455
ICD10 via Orphanet28 L10.8
UMLS via Orphanet66 C1112570
UMLS65 C1112570

Summaries for Paraneoplastic Pemphigus

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Wikipedia:68 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized... more...

MalaCards based summary: Paraneoplastic Pemphigus is related to retinitis and artery disease, and has symptoms including abnormality of the oral cavity, abnormal blistering of the skin and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. An important gene associated with Paraneoplastic Pemphigus is EVPL (Envoplakin), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Staphylococcus aureus infection. Affiliated tissues include skin, endothelial and brain.

Related Diseases for Paraneoplastic Pemphigus

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Diseases related to Paraneoplastic Pemphigus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 313)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis30.5HLA-A, HLA-B
2artery disease29.7HLA-A, HLA-B, HLA-DQB1, HLA-DRB1
3psoriasis29.1HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
4pemphigus10.6
5pili gemini10.5DSG3, DSP
6braddock syndrome10.5DSG1, DSP
7intellectual disability-sparse hair-brachydactyly syndrome10.5DSG1, DSG3
8acute opioid poisoning10.4DSG1, DSG3
9hypercholesterolemia, familial10.4DSC2, DSP
10pancreatic intraductal papillary-mucinous adenoma10.4DSG1, DSP
11leukemia10.4
12arrhythmogenic right ventricular dysplasia 1210.4DSC2, DSP
13microsomia hemifacial radial defects10.4HLA-B, HLA-DRB1
14endotheliitis10.3
15hemorrhagic fever with renal syndrome10.3HLA-C, HLA-DRB1
16hypotrichosis and recurrent skin vesicles10.3DSC2, DSC3
17drug-induced mental disorder10.3HLA-C, HLA-DRB1
18breast cancer10.3
19ovarian cancer10.3
20familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.3DSC2, DSG2, DSP
21frontotemporal dementia, right temporal atrophy variant10.3DSC2, DSG2, DSP
22mitf-related melanoma and renal cell carcinoma predisposition syndrome10.3DSC2, DSG2, DSP
23microcystic lymphatic malformation10.2DSC3, DSG1, PPL
24multiple myeloma10.2
25lymphoma10.2
26myeloma10.2
27meningitis10.2
28lichen planus pemphigoides10.2HLA-DQB1, HLA-DRB1
29specific developmental disorder10.2DSC2, DSG2, DSP
30tucker syndrome10.2HLA-DQB1, HLA-DRB1
31periventricular leukomalacia10.2HLA-A, HLA-B
32heavy chain deposition disease10.2HLA-DQB1, HLA-DRB1
33pulmonary coin lesion10.2HLA-DQB1, HLA-DRB1
34asperger syndrome10.2DSC2, DSG2, DSP
35hydromyelia10.2HLA-A, HLA-B
36autoimmune polyglandular syndrome type 210.2HLA-DQB1, HLA-DRB1
37best1 retinopathy10.2HLA-DQB1, HLA-DRB1
38non-distal monosomy 10q10.2HLA-DQB1, HLA-DRB1
39lichtenstein syndrome10.2HLA-DQB1, HLA-DRB1
40anthracosis10.2HLA-A, HLA-B
41red cell phospholipid defect with hemolysis10.2HLA-DQB1, HLA-DRB1
42undetermined early-onset epileptic encephalopathy10.2HLA-A, HLA-B
43obesity10.2
44prostatitis10.2
45cervicitis10.2
46prostate malignant phyllodes tumor10.2HLA-A, HLA-B
47actinomycosis10.2HLA-DQB1, HLA-DRB1
48hypercementosis10.2HLA-B, HLA-DRB1
49acquired thrombocytopenia10.2HLA-A, HLA-B
50pervasive developmental disorder10.2DSG1, DSP

Graphical network of the top 20 diseases related to Paraneoplastic Pemphigus:



Diseases related to paraneoplastic pemphigus

Symptoms for Paraneoplastic Pemphigus

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Symptoms:

 51
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia

HPO human phenotypes related to Paraneoplastic Pemphigus:

id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 abnormal blistering of the skin hallmark (90%) HP:0008066

Drugs & Therapeutics for Paraneoplastic Pemphigus

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

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Anatomical Context for Paraneoplastic Pemphigus

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MalaCards organs/tissues related to Paraneoplastic Pemphigus:

33
Skin, Endothelial, Brain, Heart, Breast, T cells, Lung

Animal Models for Paraneoplastic Pemphigus or affiliated genes

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MGI Mouse Phenotypes related to Paraneoplastic Pemphigus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Paraneoplastic Pemphigus

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Articles related to Paraneoplastic Pemphigus:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Case Series Investigating the Efficacy and Safety of Bilateral Fluocinolone Acetonide (ILUVIEN(Ar)) in Patients with Diabetic Macular Edema: 10 Eyes with 12 Months Follow-up. (27116231)
2016
2
I+II-spectrin regulates invadosome stability and extracellular matrix degradation. (25830635)
2015
3
Treatment of Acrodermatitis Continua of Hallopeau With Ustekinumab as Monotherapy. (26560053)
2015
4
Redundant Information in Text and Incorrect Reference. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. (26258744)
2015
5
Reference Values and Release Kinetics of B-Type Natriuretic Peptide Signal Peptide in Patients with Acute Myocardial Infarction. (26506995)
2015
6
Long-term compassionate use of oclacitinib in dogs with atopic and allergic skin disease: safety, efficacy and quality of life. (25688708)
2015
7
A Potent Inhibitor of Phosphoinositide 3-Kinase (PI3K) and Mitogen Activated Protein (MAP) Kinase Signalling, Quercetin (3, 3', 4', 5, 7-Pentahydroxyflavone) Promotes Cell Death in Ultraviolet (UV)-B-Irradiated B16F10 Melanoma Cells. (26148186)
2015
8
Cytotoxic T lymphocyte antigen 4 (CTLA4) gene polymorphism with bladder cancer risk in North Indian population. (24390231)
2014
9
Recognition of signs and symptoms of a Type 1 chondrosarcoma: a case report. (23844696)
2014
10
Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation. (23412372)
2013
11
Spinal fibromatosis: a report of two cases and review of the literature. (23523438)
2013
12
Placental expression of CD100, CD72 and CD45 is dysregulated in human miscarriage. (22606231)
2012
13
Breast metastasis from lung adenocarcinoma diagnosed with fine needle aspiration cytology: a case report. (23390851)
2012
14
Revisiting tuberculous pleurisy: pleural fluid characteristics and diagnostic yield of mycobacterial culture in an endemic area. (22436167)
2012
15
ERK/MAPK pathways play critical roles in EGFR ligands-induced MMP1 expression. (21440529)
2011
16
Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels. (21998310)
2011
17
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. (21328543)
2011
18
Studies of association between LPIN1 variants and common metabolic phenotypes among 17,538 Danes. (20356931)
2010
19
Role of histamine in atherosclerotic lesions]. (20232648)
2010
20
Exploring polyamine regulation by nascent histamine in a human-transfected cell model. (19997758)
2010
21
Cellular CD4 T cell responses to the diphtheria-derived carrier protein of conjugated pneumococcal vaccine and antibody response to pneumococcal vaccination in HIV-infected adults. (20210645)
2010
22
Trachoma, cataracts and uncorrected refractive error are still important contributors to visual morbidity in two remote indigenous communities of the Northern Territory, Australia. (19702703)
2009
23
Presence of the APOE epsilon4 allele modifies the relationship between type 2 diabetes and cognitive performance: the Maine-Syracuse Study. (19693485)
2009
24
Role of lysine 411 in substrate carboxyl group binding to the human reduced folate carrier, as determined by site-directed mutagenesis and affinity inhibition. (18182479)
2008
25
Parental transmission of HLA-DRB1*15 in multiple sclerosis. (17972102)
2008
26
The vascular endothelial cell is a new origin of melanin pigment on cynomolgus macaque with neurocutaneous melanosis. (19067973)
2008
27
Quetiapine in the successful combination treatment of an assaultive patient with treatment-resistant schizoaffective disorder. (17517541)
2007
28
Study on treatment principles for chronic atrophic gastritis. (18246683)
2007
29
Calcium channel gamma subunits: a functionally diverse protein family. (17652770)
2007
30
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2. (17728498)
2007
31
Identification of ligands for DAF-12 that govern dauer formation and reproduction in C. elegans. (16529801)
2006
32
Different effects of angiotensin receptor blockade on end-organ damage in salt-dependent and salt-independent hypertension. (16923758)
2006
33
To prevent and cure the iron overloads, the hopes of hepcidin]. (16962038)
2006
34
An infertile couple suffering from oligospermia by partial sperm maturation arrest: can phytoestrogens play a therapeutic role? A case report study. (16864151)
2006
35
Hereditary angioedema in a martial arts family. (16003044)
2005
36
The L-type cyclin CYL-1 and the heat-shock-factor HSF-1 are required for heat-shock-induced protein expression in Caenorhabditis elegans. (15611166)
2004
37
The role of epithelial-to-mesenchymal transition in renal fibrosis. (14752606)
2004
38
Activation of human meprin-alpha in a cell culture model of colorectal cancer is triggered by the plasminogen-activating system. (12189145)
2002
39
Increased levels of monocyte-related cytokines in patients with unstable angina. (11888524)
2002
40
Identification and molecular characterization of five novel kallikrein gene 13 (KLK13; KLK-L4) splice variants: differential expression in the human testis and testicular cancer. (11848466)
2001
41
HIV protease inhibitors restore impaired T-cell proliferative response in vivo and in vitro: a viral-suppression-independent mechanism. (10891458)
2000
42
Real-time visualization of the cellular redistribution of G protein-coupled receptor kinase 2 and beta-arrestin 2 during homologous desensitization of the substance P receptor. (10066824)
1999
43
Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency. (9819704)
1998
44
Angiogenesis and expression of platelet-derived endothelial cell growth factor in oral squamous cell carcinoma. (9216858)
1997
45
Molecular cloning of cDNAs encoding the GAP-associated protein p190: implications for a signaling pathway from ras to the nucleus. (1581965)
1992
46
Augmented secretion of brain natriuretic peptide in acute myocardial infarction. (1834057)
1991
47
Uterine rupture after treatment of Asherman's syndrome. (2339746)
1990
48
Testolactone treatment of precocious puberty in McCune-Albright syndrome. (3925675)
1985
49
Treatment of acute salpingitis--with special reference to Chlamydia trachomatis. (6958017)
1982
50

Variations for Paraneoplastic Pemphigus

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Expression for genes affiliated with Paraneoplastic Pemphigus

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Search GEO for disease gene expression data for Paraneoplastic Pemphigus.

Pathways for genes affiliated with Paraneoplastic Pemphigus

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Pathways related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show top 14)    (show all 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8DSP, EVPL, PPL
29.4DSG1, HLA-DQB1, HLA-DRB1
39.3HLA-A, HLA-B, HLA-C
4
Show member pathways
9.3HLA-A, HLA-B, HLA-C
59.3HLA-A, HLA-B, HLA-C
6
Show member pathways
9.2DSC2, DSC3, DSG2, DSP
7
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
88.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
9
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
108.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
11
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
128.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
138.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
14
Show member pathways
8.5HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1

GO Terms for genes affiliated with Paraneoplastic Pemphigus

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Cellular components related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.2HLA-C, HLA-DQB1
2intercalated discGO:001470410.2DSC2, DSG2
3ER to Golgi transport vesicle membraneGO:00125079.3HLA-A, HLA-C, HLA-DQB1, HLA-DRB1
4cell surfaceGO:00099869.3DSG2, HLA-A, HLA-B, HLA-C
5plasma membraneGO:00058866.7C6orf25, DSC1, DSC2, DSC3, DSG1, DSG2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.3DSC2, DSG2
2immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.3HLA-DQB1, HLA-DRB1
3protection from natural killer cell mediated cytotoxicityGO:004227010.2HLA-A, HLA-B
4positive regulation of T cell mediated cytotoxicityGO:000191610.2HLA-A, HLA-B
5regulation of heart rate by cardiac conductionGO:008609110.2DSG2, DSP
6antigen processing and presentation of peptide antigen via MHC class IGO:00024749.6HLA-A, HLA-B, HLA-C
7interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-A, HLA-B, HLA-C
8homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071569.2DSC2, DSG2, DSG3
9antigen processing and presentationGO:00198828.9HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1
10apoptotic processGO:00069158.7DSG1, DSG2, DSG3, DSP

Molecular functions related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:00426059.6HLA-A, HLA-B

Sources for Paraneoplastic Pemphigus

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet