MCID: PMP006
MIFTS: 58

Pemphigus Vulgaris, Familial

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pemphigus Vulgaris, Familial

MalaCards integrated aliases for Pemphigus Vulgaris, Familial:

Name: Pemphigus Vulgaris, Familial 56 74 37
Pemphigus Vulgaris 12 74 52 58 54 15 17 71 32
Familial Pemphigus Vulgaris 12
Pemphigus 43

Characteristics:

Orphanet epidemiological data:

58
pemphigus vulgaris
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult,Elderly;

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
pemphigus vulgaris, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060851
OMIM 56 169610
MeSH 43 D010392
NCIt 49 C34910
SNOMED-CT 67 49420001
ICD10 32 L10.0
ICD10 via Orphanet 33 L10.0
UMLS via Orphanet 72 C0030809
Orphanet 58 ORPHA704
MedGen 41 C1868502
UMLS 71 C0030809

Summaries for Pemphigus Vulgaris, Familial

NIH Rare Diseases : 52 Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin and mucous membranes . It occurs almost exclusively in middle-aged or older people. The primary lesion of pemphigus vulgaris is a soft blister filled with clear fluid that appears on healthy or irritated skin. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. The blisters inside the mouth can make it hard for the person to eat. The rupture of blisters on the skin may be painful and limit the person's daily activities. Complications due to infections can be serious and the damaging nature of the blisters can cause loss of body fluids and protein . The exact cause of pemphigus vulgaris is unknown, but the blisters in pemphigus vulgaris are associated with the binding of antibodies to the skin cells . Treatment is aimed at reducing symptoms and preventing complications, and may include the use of corticosteroids , i mmunosuppressive drugs , and more recently immunotherapy . Pemphigus vulgaris may require long term treatment to keep it in remission .

MalaCards based summary : Pemphigus Vulgaris, Familial, also known as pemphigus vulgaris, is related to pemphigus vegetans and ritter's disease. An important gene associated with Pemphigus Vulgaris, Familial is DSG3 (Desmoglein 3), and among its related pathways/superpathways are Developmental Biology and Cell junction organization. The drugs Triamcinolone and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are feeding difficulties in infancy and abnormal blistering of the skin

Disease Ontology : 12 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.

OMIM : 56 Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by Ahmed et al., 1990). (169610)

Wikipedia : 74 Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus.... more...

Related Diseases for Pemphigus Vulgaris, Familial

Diseases related to Pemphigus Vulgaris, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 665)
# Related Disease Score Top Affiliating Genes
1 pemphigus vegetans 33.3 PPL DSG1 DSC3
2 ritter's disease 32.5 DSG4 DSG3 DSG2 DSG1 DSC3
3 epidermolysis bullosa, lethal acantholytic 32.4 JUP DSP
4 subcorneal pustular dermatosis 32.2 PPL EVPL DST DSP DSG3 DSG1
5 pemphigus erythematosus 31.6 DSP DSG3
6 linear iga disease 31.4 DST COL17A1
7 pemphigus foliaceus 31.0 PPL HLA-DRB1 EVPL DST DSG3 DSG2
8 grover's disease 30.7 JUP DSP
9 herpetiform pemphigus 30.7 DST DSG3 DSG1
10 bullous impetigo 30.6 DSG3 DSG1
11 cicatricial pemphigoid 30.5 HLA-DRB1 DST COL17A1
12 autoimmune disease 30.4 TNFSF13B HLA-G HLA-DRB1 DSG3 DSG1 COL17A1
13 lichen planus 30.4 IVL DST DSG3 DSG1 COL17A1
14 castleman disease 30.3 PPL EVPL DSP DSG3 DSG1
15 follicular dendritic cell sarcoma 30.2 PPL EVPL DSP DSG3
16 keratosis 30.2 IVL DST DSP DSG4 DSG2 DSG1
17 iga pemphigus 30.2 PPL EVPL DSG3 DSG1 DSC3
18 discoid lupus erythematosus 30.2 IVL HLA-DRB1
19 pseudomembranous conjunctivitis 30.2 EVPL DSP
20 lichen planus pemphigoides 30.1 DST COL17A1
21 epidermolysis bullosa 30.0 IVL DST DSP COL17A1
22 hypotrichosis 29.9 DSG4 DSG1 DSC3 CDH3
23 left bundle branch hemiblock 29.9 JUP DSP DSG2
24 impetigo 29.9 DSG4 DSG3 DSG2 DSG1 DSC3
25 pemphigoid gestationis 29.8 HLA-DRB1 DST DSG3 DSG1 COL17A1
26 pemphigus gestationis 29.8 DST DSP DSG3 DSG1 COL17A1
27 epidermolysis bullosa acquisita 29.7 HLA-DRB1 DST COL17A1
28 basal cell carcinoma 29.6 IVL DST COL17A1 CDH3 CDH1
29 darier-white disease 29.4 JUP IVL DSP DSG4 DSG3 DSC3
30 benign chronic pemphigus 29.4 JUP IVL DSP DSG4 DSG3 DSG2
31 paraneoplastic pemphigus 29.3 PPL HLA-DRB1 EVPL DST DSP DSG3
32 skin disease 29.3 IVL DST DSP DSG4 DSG3 DSG2
33 bullous skin disease 29.1 PPL EVPL DST DSP DSG4 DSG3
34 cellulitis 28.6 PPL EVPL DST DSP DSG4 DSG3
35 bullous pemphigoid 28.5 TNFSF13B PPL PLAU IVL HLA-DRB1 EVPL
36 pemphigus 27.7 PPL PLAUR JUP HLA-DRB1 EVPL DST
37 pemphigus and fogo selvagem 12.5
38 superficial pemphigus 12.4
39 recessive dystrophic epidermolysis bullosa-generalized other 11.2
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
41 dermatitis 10.6
42 dermatitis herpetiformis 10.6
43 herpes simplex 10.6
44 ocular cicatricial pemphigoid 10.5
45 dermatitis herpetiformis, familial 10.5
46 paronychia 10.5
47 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSP DSG1
48 squamous cell carcinoma 10.5
49 dysphagia 10.5
50 systemic lupus erythematosus 10.4

Graphical network of the top 20 diseases related to Pemphigus Vulgaris, Familial:



Diseases related to Pemphigus Vulgaris, Familial

Symptoms & Phenotypes for Pemphigus Vulgaris, Familial

Human phenotypes related to Pemphigus Vulgaris, Familial:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
2 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
5 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
6 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
7 recurrent cutaneous abscess formation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100838
8 acantholysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100792
9 abnormal oral cavity morphology 31 hallmark (90%) HP:0000163
10 recurrent infections 58 Very frequent (99-80%)
11 abnormality of the oral cavity 58 Very frequent (99-80%)
12 autoimmune antibody positivity 31 HP:0030057
13 oral mucosal blisters 31 HP:0200097

Symptoms via clinical synopsis from OMIM:

56
Immunology:
autoimmune disease

Misc:
response to cyclosporin
hla association

Skin:
pemphigus vulgaris
mucosal blisters
skin blisters

Lab:
circulating antibody to intercellular cement substance

Clinical features from OMIM:

169610

GenomeRNAi Phenotypes related to Pemphigus Vulgaris, Familial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.1 CDH1 PLAUR
2 Decreased viability GR00221-A-2 10.1 PLAUR
3 Decreased viability GR00221-A-4 10.1 PLAUR
4 Decreased viability GR00240-S-1 10.1 CCL17 PLAU
5 Decreased viability GR00301-A 10.1 CDH1
6 Decreased viability GR00381-A-1 10.1 CCL17
7 Decreased viability GR00402-S-2 10.1 CCL17 CDH1 CDH3 COL17A1 DSC3 DSG1
8 no effect GR00402-S-1 9.62 CCL17 CDH1 CDH3 COL17A1 DSC3 DSG1

MGI Mouse Phenotypes related to Pemphigus Vulgaris, Familial:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.7 CCL17 CDH1 DSG2 DSG3 DSG4 HLA-G
2 integument MP:0010771 9.4 CDH1 CDH3 DSC3 DSG1 DSG2 DSG3

Drugs & Therapeutics for Pemphigus Vulgaris, Familial

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

(show top 50) (show all 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
2
Mycophenolic acid Approved Phase 3 24280-93-1 446541
3
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
5
rituximab Approved Phase 3 174722-31-7 10201696
6
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
7
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
8
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
9
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
10 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
ofatumumab Approved Phase 3 679818-59-8 6918251
13
Acetaminophen Approved Phase 3 103-90-2 1983
14
Cetirizine Approved Phase 3 83881-51-0 2678
15
Histamine Approved, Investigational Phase 3 51-45-6 774
16
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
17
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
18 triamcinolone acetonide Phase 3
19 Triamcinolone diacetate Phase 3
20 Triamcinolone hexacetonide Phase 3
21 Antitubercular Agents Phase 3
22
protease inhibitors Phase 2, Phase 3
23 BB 1101 Phase 2, Phase 3
24 HIV Protease Inhibitors Phase 2, Phase 3
25 Rho(D) Immune Globulin Phase 3
26 Immunoglobulins, Intravenous Phase 3
27 gamma-Globulins Phase 3
28 Antirheumatic Agents Phase 3
29 Antineoplastic Agents, Immunological Phase 3
30 Immunoglobulins Phase 3
31 Antibodies Phase 3
32 Anti-Inflammatory Agents Phase 3
33 Analgesics, Non-Narcotic Phase 3
34 Immunologic Factors Phase 3
35 Gastrointestinal Agents Phase 3
36 Analgesics Phase 3
37 Hormone Antagonists Phase 3
38 glucocorticoids Phase 3
39 Hormones Phase 3
40 Methylprednisolone Acetate Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 Antibodies, Monoclonal Phase 3
43 Neurotransmitter Agents Phase 3
44 Antiemetics Phase 3
45 Antipyretics Phase 3
46
Histamine Phosphate Phase 3 51-74-1 65513
47 Autonomic Agents Phase 3
48 Neuroprotective Agents Phase 3
49 Histamine Antagonists Phase 3
50 Histamine H1 Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 A PILOT STUDY TO ASSESS THE EFFICACY OF RITUXIMAB VERSUS COMBINATION OF RITUXIMAB AND INTRAVENOUS CYCLOPHOSPHAMIDE IN THE TREATMENT OF REFRACTORY PEMPHIGUS Unknown status NCT01974518 Phase 3 Rituximab and Cyclophosphamide IV
2 Comparative Study Between Intralesional Autologous Platelet Rich Plasma and Intralesional Triamcinolone Acetonide in the Oral Erosions of Pemphigus Vulgaris Patients Completed NCT02828163 Phase 3 Triamcinolone Acetonide
3 A Prospective, Randomised, Double-blind, Placebo-controlled, Parallel Group, Mult-center, 52-week Trial to Assess the Efficacy and Safety of Adjunct Mycophenolate Mofetil (MMF) to Achieve Remission With Reduced Corticosteroid in Subjects With Pemphigus Vulgaris Completed NCT00683930 Phase 3 Mycophenolate Mofetil 2 g/Day;Mycophenolate Mofetil (MMF) 3 g/Day;Placebo
4 A Randomized, Double-Blind, Double-Dummy, Active-Comparator, Multicenter Study to Evaluate the Efficacy and Safety of Rituximab Versus MMF in Patients With Pemphigus Vulgaris Completed NCT02383589 Phase 3 Mycophenolate Mofetil Placebo;Mycophenolate Mofetil;Rituximab;Rituximab Placebo
5 European Randomised Placebo-Controlled Trial of Adjuvant Oral Glucocorticoid Pulse Therapy in Pemphigus (Pempuls Trial) Completed NCT00127764 Phase 2, Phase 3 dexamethasone (50mg 1dd6, 3 consecutive days/month)
6 EVALUATION CLINIQUE ET BIOLOGIQUE A LONG TERME DES PATIENTS ATTEINTS DE FORMES SEVERES DE PEMPHIGUS TRAITES PAR LE RITUXIMAB Completed NCT01299857 Phase 3 Rituximab
7 Traitment of Patients Presenting Pemphigus With Anti CD20 (Mabthera). Completed NCT00213512 Phase 2, Phase 3 Mabthera
8 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Completed NCT02993133 Phase 3 Cellcept® in autoimmune bullous dermatoses
9 Comparison Between Monoclonal Antibody CD20 Treatment (Rituximab (mabthéra))and General Corticotherapy Treatment in Patients With Pemphigus Completed NCT00784589 Phase 3 General Corticotherapy;Rituximab
10 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Bullous Pemphigoid Unresponsive to Corticosteroids: Randomized, Double-Blind, Placebo Control,Parallel Assignment Study(Phase III) Completed NCT01408550 Phase 3 NPB-01;Placebo
11 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Oral BTK Inhibitor PRN1008 in Moderate to Severe Pemphigus Recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
12 Clinical and Immunological Long-term Follow-up of Patients With Pemphigus Included in the "RITUXIMAB 3" Trial With Medico-economic Evaluation of the Treatment. Not yet recruiting NCT03790293 Phase 3 Rituximab;corticosteroids'therapy
13 OPV116910: A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Investigate the Efficacy and Safety of Ofatumumab Injection for Subcutaneous Use in Subjects With Pemphigus Vulgaris Terminated NCT01920477 Phase 3
14 OPV117059: A Long-Term Extension Study of Ofatumumab Injection for Subcutaneous Use in Subjects With Pemphigus Vulgaris Terminated NCT02613910 Phase 3 Ofatumumab;Acetaminophen/paracetamol;Antihistamine (cetirizine or equivalent);Prednisone/Prednisolone
15 A Randomized, Partial-blind, Placebo-controlled Trial Evaluating the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of VAY736 in the Treatment of Patients With Pemphigus Vulgaris Completed NCT01930175 Phase 2 VAY736;Placebo to VAY736;VAY736
16 A Double-Blinded, Placebo-Controlled Study of Etanercept (Enbrel) in the Treatment of Pemphigus Vulgaris Completed NCT00135720 Phase 2 Enbrel (Etanercept)
17 A Phase 2 Open-Label Uncontrolled Pilot Study of KC706 in Patients With Stable, Active Pemphigus Vulgaris Completed NCT00606749 Phase 2 KC706
18 A Randomized, Double-Blind, Placebo-Controlled Phase II Trial of Adjuvant Azathioprine Therapy in New Cases of Pemphigus Vulgaris Receiving Prednisone Completed NCT00626678 Phase 2 Azathioprine;Prednisone;Placebo
19 A Randomized, Double-Blind, Placebo-Controlled Phase II Trial of Infliximab in Subjects With Pemphigus Vulgaris Receiving Prednisone Completed NCT00283712 Phase 2 Infliximab
20 Rituximab in the Treatment of Patients With Bullous Pemphigoid Completed NCT00286325 Phase 1, Phase 2 Rituximab
21 Phase II Study of High-Dose Cyclophosphamide in Patients With Refractory Pemphigus Completed NCT00010413 Phase 2 cyclophosphamide;filgrastim
22 Combined Treatment of Autoimmune Bullous Diseases With Protein A Immunoadsorption, Dexamethasone Pulse Therapy and Rituximab Completed NCT00656656 Phase 2 Combination of Protein A Immunoadsorption, Rituximab, Dexamethasone plus Azathioprine
23 Phase I/II Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
24 An Open-label, Non-controlled, Phase II Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, Efficacy and Conditions of Use of ARGX-113 in Patients With Mild to Moderate Pemphigus (Vulgaris and Foliaceus) Recruiting NCT03334058 Phase 2 ARGX-113
25 An Open-Label, Phase 2, Pilot Study Investigating the Safety, Clinical Activity, Pharmacokinetics, and Pharmacodynamics of Oral Treatment With the BTK Inhibitor PRN1008 in Patients With Newly Diagnosed or Relapsing Pemphigus Vulgaris Active, not recruiting NCT02704429 Phase 2 PRN1008
26 TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN Active, not recruiting NCT04128722 Phase 2 Sirolimus Oral Liquid Product 1mg/mL
27 Short-term Efficacy of Interleukin-2 Gargle Combined With Systemic Use of Glucocorticoids in the Treatment of Oral Mucosal Lesion in Pemphigus Vulgaris: a Randomized, Controlled, Double-blind, Multicenter Clinical Study Not yet recruiting NCT04023149 Phase 2 recombinant human interleukin-2 (rhIL-2);placebo
28 A Phase 1b/2, Multicenter, Open-Label, Safety, and Dose-Finding Study of SYNT001 in Subjects With Pemphigus (Vulgaris or Foliaceus) Terminated NCT03075904 Phase 1, Phase 2 SYNT001
29 A Prospective Randomized Placebo-Controlled Clinical Trial of Dapsone as a Glucocorticoid-Sparing Agent in Maintenance Phase Pemphigus Vulgaris Terminated NCT00429533 Phase 2 Dapsone
30 Phase 2 Randomized Trial of IVIg With or Without Cyclophosphamide in Pemphigus Terminated NCT00483119 Phase 2 intravenous immunoglobulin;cyclophosphamide
31 A Phase 2 Dose-Escalation Study of the Safety and Tolerability of INCB050465 in Participants With Pemphigus Vulgaris Withdrawn NCT03780166 Phase 2 Parsaclisib
32 An Open-Label, Dose-Escalation, Phase I Clinical Study to Assess the Safety of PI-0824 in Patient With Pemphigus Vulgaris Requiring Daily Corticosteroid Therapy Completed NCT00063752 Phase 1 PI-0824
33 Pharmacokinetics and Distribution of Dapsone (DDS) in Leucocytes After Single-dose and Multiple-dose Administration in Healthy Subjects Genotyped for CYP2C9 and NAT2 and in Patients With Autoimmune Bullous Dermatoses Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
34 Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Toxin Hailey Darier Completed NCT02782702 Phase 1 Botulism Toxin Treatment
35 A Phase I, Open-Label, Multicenter Trial Exploring the Safety and Tolerability of Autologous Polyclonal Regulatory T Cell Therapy in Adults With Active Pemphigus (APG01) Recruiting NCT03239470 Phase 1
36 Rituximab (Anti-CD20) for the Treatment of Subjects With Anticytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab
37 High Dose Cyclophosphamide & ATG With Hematopoietic Stem Cell Support in Patients With Autoimmune Bullous Skin Disorders: A Phase I Trial Terminated NCT00278642 Phase 1
38 Serum IL-21 Levels in Patients With Pemphigus Vulgaris Unknown status NCT03177213
39 Treatment of Moderate to Severe Patients With Pemphigus With the Monoclonal Anti CD20 Antibody Rituximab at a Protocol of 1000mgX2 and Assessment of Their Immune Status Via the Cylex Test Unknown status NCT01338103 Rituximab
40 Identification of Vulnerability Factors in the Course of Pemphigus Patients - SHS Pemphigus Clinical Trial Unknown status NCT02237313
41 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079
42 An Open Randomized Comparative Trial of Four Different Dressings for Cutaneous Coverage in Pemphigus and Pemphigoid Unknown status NCT02365675
43 Serum Free Fatty Acids Desaturase Activity Indices in Sera of Patients on Long-term High-dose Corticosteroid Treatment Unknown status NCT02872584 Prednisone
44 Low Dose (1mcg) ACTH Stimulation Test for Assessment of the Hypothalamo-Pituitary- Adrenal Axis in Patients Treated With Topical Corticosteroids Unknown status NCT00476489
45 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
46 Immunological Changes in Chronic Graft Versus Host Disease Treated With Extracorporeal Photopheresis Completed NCT01174277
47 Comparison of Two Therapeutic Strategies of Dermoval in Treatment of Bullous Pemphigus Completed NCT00213421 Dermoval
48 The RITAI Cohort. An Observational Study on Serious Adverse Events Occuring After Rituximab Off-label Use for Auto-immune Disorders Completed NCT00960713 Rituximab (MABTHERA® or RITUXAN®).
49 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
50 A Controlled Cross Sectional Study: Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Completed NCT03129308

Search NIH Clinical Center for Pemphigus Vulgaris, Familial

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pemphigus Vulgaris, Familial cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Pemphigus Vulgaris, Familial:
Hematopoietic stem cells for pemphigus

Cochrane evidence based reviews: pemphigus

Genetic Tests for Pemphigus Vulgaris, Familial

Anatomical Context for Pemphigus Vulgaris, Familial

MalaCards organs/tissues related to Pemphigus Vulgaris, Familial:

40
Skin, T Cells, B Cells, Testes, Thyroid, Lung, Bone

Publications for Pemphigus Vulgaris, Familial

Articles related to Pemphigus Vulgaris, Familial:

(show top 50) (show all 3642)
# Title Authors PMID Year
1
Desmoglein 3-specific T regulatory 1 cells consist of two subpopulations with differential expression of the transcription factor Foxp3. 61 56
18800988 2009
2
Evidence of key role of Cdk2 overexpression in pemphigus vulgaris. 61 56
18199752 2008
3
p38MAPK inhibition prevents disease in pemphigus vulgaris mice. 61 56
16908851 2006
4
Major histocompatibility complex haplotypes and class II genes in non-Jewish patients with pemphigus vulgaris. 61 56
1675792 1991
5
Prolonged remission after cyclosporine therapy in pemphigus vulgaris: report of two young siblings. 61 56
2229498 1990
6
Major histocompatibility complex haplotype studies in Ashkenazi Jewish patients with pemphigus vulgaris. 61 56
2217197 1990
7
Specific HLA-DQB and HLA-DRB1 alleles confer susceptibility to pemphigus vulgaris. 61 56
2503828 1989
8
Familial pemphigus vulgaris with oral manifestations affecting two Greek families. 61 56
2664132 1989
9
Induction of pemphigus in neonatal mice by passive transfer of IgG from patients with the disease. 61 56
7040962 1982
10
HLA-DRw4 in pemphigus vulgaris patients in Israel. 61 56
6936869 1980
11
HLA-DRW4 in 91% of Jewish pemphigus vulgaris patients. 61 56
89501 1979
12
Familial occurrence of pemphigus foliaceus. 56
4577497 1973
13
Binding of pemphigus vulgaris IgG to antigens in desmosome core domains excludes immune complexes rather than directly splitting desmosomes. 54 61
20222919 2010
14
Association of human leukocyte antigen class II alleles with pemphigus vulgaris in a Turkish population. 54 61
20507388 2010
15
Clinical activity of pemphigus vulgaris relates to IgE autoantibodies against desmoglein 3. 54 61
20015693 2010
16
p38MAPK signaling and desmoglein-3 internalization are linked events in pemphigus acantholysis. 54 61
20093368 2010
17
Investigation of human keratinocyte cell adhesion using atomic force microscopy. 54 61
19616642 2010
18
Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer. 54 61
19997107 2010
19
TNF-alpha and IL-10 gene polymorphisms show a weak association with pemphigus vulgaris in the Slovak population. 54 61
19470040 2010
20
Development of ELISA for the specific determination of autoantibodies against envoplakin and periplakin in paraneoplastic pemphigus. 54 61
19737550 2009
21
Autoantibodies against desmocollins in European patients with pemphigus. 54 61
19456767 2009
22
Dermatoses affecting desmosomes in animals: a mechanistic review of acantholytic blistering skin diseases. 54 61
20178467 2009
23
Rituximab mediates a strong elevation of B-cell-activating factor associated with increased pathogen-specific IgG but not autoantibodies in pemphigus vulgaris. 54 61
19282839 2009
24
Apoptosis in pemphigus. 54 61
19189866 2009
25
Desmoglein ELISA in the diagnosis of pemphigus and its correlation with the severity of pemphigus vulgaris. 54 61
19279360 2009
26
Peptides Targeting the Desmoglein 3 Adhesive Interface Prevent Autoantibody-induced Acantholysis in Pemphigus. 54 61
19164289 2009
27
High-dose pemphigus antibodies against linear epitopes of desmoglein 3 (Dsg3) can induce acantholysis and depletion of Dsg3 from keratinocytes. 54 61
19200441 2009
28
Detection of autoantibodies against recombinant desmoglein 1 and 3 molecules in patients with pemphigus vulgaris: correlation with disease extent at the time of diagnosis and during follow-up. 54 61
20049340 2009
29
Novel therapies for pemphigus vulgaris: an overview. 54 61
19761276 2009
30
Effect of intravenous immunoglobulin therapy on serum levels of IgG1 and IgG4 antidesmoglein 1 and antidesmoglein 3 antibodies in pemphigus vulgaris. 54 61
19075146 2008
31
Advances in pemphigus and its endemic pemphigus foliaceus (Fogo Selvagem) phenotype: a paradigm of human autoimmunity. 54 61
18838249 2008
32
Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. 54 61
18505410 2008
33
Anti-desmoglein IgG autoantibodies in patients with pemphigus in remission. 54 61
18410336 2008
34
Immunological hotspots analyzed by docking simulations: evidence for a general mechanism in pemphigus vulgaris pathology and transformation. 54 61
18564435 2008
35
Expression of pemphigus-autoantigen desmoglein 1 in human thymus. 54 61
18331528 2008
36
Expression of HLA-G in the skin of patients with pemphigus vulgaris. 54 61
18322306 2008
37
Expression of vinculin in autoimmune cutaneous diseases. 54 61
18327013 2008
38
Desmoglein 1 and 3 enzyme-linked immunosorbent assay in Iranian patients with pemphigus vulgaris: correlation with phenotype, severity, and disease activity. 54 61
17958835 2007
39
Pemphigus vegetans Neumann type with anti-desmoglein and anti-periplakin autoantibodies. 54 61
17951135 2007
40
Pemphigus IgG causes skin splitting in the presence of both desmoglein 1 and desmoglein 3. 54 61
17640963 2007
41
No activation of urokinase plasminogen activator by anti-desmoglein 3 monoclonal IgG antibodies in cultured human keratinocytes. 54 61
17532189 2007
42
Targeting pemphigus autoantibodies through their heavy-chain variable region genes. 54 61
17392832 2007
43
Pemphigus vulgaris immunoglobulin G can recognize a 130 000 MW antigen other than desmoglein 3 on peripheral blood mononuclear cell surface. 54 61
17386081 2007
44
IgG autoantibodies directed against desmoglein 3 cause dissociation of keratinocytes in canine pemphigus vulgaris and paraneoplastic pemphigus. 54 61
17350107 2007
45
Desmoglein versus non-desmoglein signaling in pemphigus acantholysis: characterization of novel signaling pathways downstream of pemphigus vulgaris antigens. 54 61
17344213 2007
46
Ear, nose and throat manifestations in pemphigus vulgaris. 54 61
17493073 2007
47
Coexistence of IgA antibodies to desmogleins 1 and 3 in pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. 54 61
17263817 2007
48
Pemphigus vulgaris: recent advances in our understanding of its pathogenesis. 54 61
17452959 2007
49
Detection of low avidity desmoglein 3-reactive T cells in pemphigus vulgaris using HLA-DR beta 1*0402 tetramers. 54 61
17113829 2007
50
Serum chemokine profile in patients with bullous pemphigoid. 54 61
17300233 2007

Variations for Pemphigus Vulgaris, Familial

Expression for Pemphigus Vulgaris, Familial

Search GEO for disease gene expression data for Pemphigus Vulgaris, Familial.

Pathways for Pemphigus Vulgaris, Familial

Pathways related to Pemphigus Vulgaris, Familial according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 PPL JUP IVL EVPL DSP DSG4
2
Show member pathways
12.5 JUP DST COL17A1 CDH3 CDH1
3 11.9 HLA-G HLA-DRB1 CDH3 CDH1
4
Show member pathways
11.78 PPL JUP IVL EVPL DSP DSG4
5
Show member pathways
11.66 PPL EVPL DST DSP
6 11.64 PLAUR JUP DSP CDH3 CDH1
7
Show member pathways
11.42 DSP DSG3 DSG2 DSG1 CDH1
8 11.3 PLAUR PLAU CDH1
9 11.18 JUP CDH3 CDH1
10 11.08 PLAUR PLAU IVL
11 10.81 TNFSF13B COL17A1 CDH3 CDH1 CCL17
12 10.61 PLAUR PLAU

GO Terms for Pemphigus Vulgaris, Familial

Cellular components related to Pemphigus Vulgaris, Familial according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 TNFSF13B PPL PLAUR JUP HLA-G HLA-DRB1
2 integral component of membrane GO:0016021 10.38 TNFSF13B PLAUR HLA-G HLA-DRB1 DST DSG4
3 plasma membrane GO:0005886 10.25 TNFSF13B PPL PLAUR PLAU JUP HLA-G
4 extracellular region GO:0005576 10.21 TNFSF13B PLAUR PLAU JUP HLA-G DSC3
5 extracellular exosome GO:0070062 10.19 PPL PLAU JUP IVL HLA-DRB1 EVPL
6 cell surface GO:0009986 10 PLAUR PLAU HLA-DRB1 DSG2 CDH3 CDH1
7 cell junction GO:0030054 10 PPL PLAUR JUP EVPL DST DSP
8 cell-cell junction GO:0005911 9.86 JUP DSP DSG4 DSG3 DSG2 DSG1
9 intermediate filament GO:0005882 9.83 PPL JUP EVPL DST DSP
10 cell-cell adherens junction GO:0005913 9.75 JUP CDH3 CDH1
11 cytoplasmic side of plasma membrane GO:0009898 9.71 JUP DSG1 CDH1
12 lateral plasma membrane GO:0016328 9.71 JUP DSG2 DSG1 CDH1
13 intercalated disc GO:0014704 9.69 JUP DSP DSG2
14 catenin complex GO:0016342 9.65 JUP CDH3 CDH1
15 desmosome GO:0030057 9.61 PPL JUP EVPL DSP DSG4 DSG3
16 fascia adherens GO:0005916 9.55 JUP DSP
17 hemidesmosome GO:0030056 9.54 JUP DST COL17A1
18 cornified envelope GO:0001533 9.32 PPL JUP IVL EVPL DSP DSG4

Biological processes related to Pemphigus Vulgaris, Familial according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.97 PLAUR PLAU JUP DSP DSG1
2 cell adhesion GO:0007155 9.97 JUP DST DSG4 DSG3 DSG2 DSG1
3 cell-cell adhesion GO:0098609 9.81 JUP DSP DSG4 DSG3 DSG2 DSG1
4 keratinocyte differentiation GO:0030216 9.8 IVL EVPL DSP DSG4
5 wound healing GO:0042060 9.8 PPL EVPL DST DSP CDH3
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSG4 DSG3 DSG2 DSG1 DSC3 CDH3
7 epidermis development GO:0008544 9.77 EVPL DSP COL17A1
8 adherens junction organization GO:0034332 9.76 JUP DSP CDH3 CDH1
9 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.72 DSG1 CDH3 CDH1
10 cell-cell junction assembly GO:0007043 9.71 DSG1 CDH3 CDH1
11 regulation of heart rate by cardiac conduction GO:0086091 9.7 JUP DSP DSG2
12 peptide cross-linking GO:0018149 9.69 IVL EVPL DSP
13 intermediate filament cytoskeleton organization GO:0045104 9.67 PPL EVPL DST DSP
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 JUP DSP DSG2
15 cornification GO:0070268 9.65 PPL JUP IVL EVPL DSP DSG4
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.61 JUP DSP DSG2
17 hemidesmosome assembly GO:0031581 9.58 DST COL17A1
18 cellular response to indole-3-methanol GO:0071681 9.57 JUP CDH1
19 desmosome organization GO:0002934 9.56 DSP DSG2
20 keratinization GO:0031424 9.36 PPL JUP IVL EVPL DSP DSG4

Molecular functions related to Pemphigus Vulgaris, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.72 PPL JUP EVPL CDH3 CDH1
2 cell adhesion molecule binding GO:0050839 9.56 JUP DSP DSG2 CDH1
3 calcium ion binding GO:0005509 9.56 DST DSG4 DSG3 DSG2 DSG1 DSC3
4 cytoskeletal protein binding GO:0008092 9.54 DST CDH3 CDH1
5 gamma-catenin binding GO:0045295 9.33 DSG1 DSC3 CDH1
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 JUP DSP DSG2

Sources for Pemphigus Vulgaris, Familial

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
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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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