MCID: PMP006
MIFTS: 56

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 57 75 38
Pemphigus Vulgaris 12 75 53 59 55 15 17 72 33
Familial Pemphigus Vulgaris 12
Pemphigus 44

Characteristics:

Orphanet epidemiological data:

59
pemphigus vulgaris
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult,Elderly;

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
pemphigus vulgaris, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060851
OMIM 57 169610
MeSH 44 D010392
NCIt 50 C34910
SNOMED-CT 68 49420001
ICD10 33 L10.0
ICD10 via Orphanet 34 L10.0
UMLS via Orphanet 73 C0030809
Orphanet 59 ORPHA704
MedGen 42 C1868502
UMLS 72 C0030809

Summaries for Pemphigus Vulgaris, Familial

NIH Rare Diseases : 53 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, immunosuppressive 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 ritter's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Pemphigus Vulgaris, Familial is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Developmental Biology and Cell junction organization. The drugs Triamcinolone and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and testes, 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 : 57 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 : 75 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 646)
# Related Disease Score Top Affiliating Genes
1 ritter's disease 33.1 DSG4 DSG2 DSG1
2 epidermolysis bullosa, lethal acantholytic 32.2 JUP DSP
3 pemphigus erythematosus 31.2 DSP DSG3
4 subcorneal pustular dermatosis 31.2 PPL EVPL DST DSG3 DSG1 DSC3
5 pemphigus vegetans 31.0 PPL DSG1 DSC3
6 follicular dendritic cell sarcoma 30.7 PPL EVPL DSP
7 grover's disease 30.5 JUP DSP
8 bronchiolitis obliterans 30.3 PPL EVPL
9 bullous impetigo 30.2 DSG3 DSG1
10 bullous pemphigoid 30.2 PPL EVPL DST DSP DSG3 DSG1
11 pemphigus foliaceus 30.2 PPL EVPL DST DSG3 DSG2 DSG1
12 herpetiform pemphigus 30.1 DST DSG3 DSG1
13 skin disease 29.9 DST DSP DSG4 DSG3 DSG1 DSC3
14 benign chronic pemphigus 29.8 JUP DSP CDH3
15 darier-white disease 29.4 JUP DSP CDH3
16 crohn's colitis 29.0 CDH3 CDH1
17 bullous skin disease 28.9 PPL EVPL DST DSP DSG3 DSG1
18 cellulitis 28.8 PPL DST DSP DSG3 DSG1 DSC3
19 hypotrichosis 28.8 DSG4 DSG1 DSC3 CDH3
20 paraneoplastic pemphigus 28.7 PPL EVPL DST DSP DSG3 DSG2
21 pemphigus 26.9 PPL JUP EVPL DST DSP DSG4
22 pemphigus and fogo selvagem 12.5
23 superficial pemphigus 12.4
24 recessive dystrophic epidermolysis bullosa-generalized other 11.2
25 autoimmune disease 11.0
26 linear iga disease 10.8
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
28 dermatitis 10.6
29 dermatitis herpetiformis 10.6
30 lichen planus 10.6
31 herpes simplex 10.6
32 ocular cicatricial pemphigoid 10.5
33 dermatitis herpetiformis, familial 10.5
34 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSP DSG1
35 paronychia 10.5
36 cicatricial pemphigoid 10.5
37 squamous cell carcinoma 10.5
38 systemic lupus erythematosus 10.4
39 myasthenia gravis 10.4
40 dysphagia 10.4
41 kaposi sarcoma 10.4
42 lupus erythematosus 10.4
43 respiratory failure 10.4
44 pustulosis of palm and sole 10.4
45 psoriasis 10.4
46 striate palmoplantar keratoderma 10.4 DSP DSG1
47 retinitis pigmentosa-deafness syndrome 10.4
48 usher syndrome 10.4
49 thymoma, familial 10.4
50 esophagitis 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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
2 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
3 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
4 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
5 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
6 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
7 recurrent cutaneous abscess formation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100838
8 acantholysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100792
9 abnormal oral cavity morphology 32 hallmark (90%) HP:0000163
10 recurrent infections 59 Very frequent (99-80%)
11 abnormality of the oral cavity 59 Very frequent (99-80%)
12 autoimmune antibody positivity 32 HP:0030057
13 oral mucosal blisters 32 HP:0200097

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Pemphigus Vulgaris, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 CDH1 CDH3 DSC3 DSG1 DSG3 DSG4

Drugs & Therapeutics for Pemphigus Vulgaris, Familial

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Dapsone For the treatment and management of leprosy and dermatitis herpetiformis. DB00250
2 Rituximab Rituximab is indicated in the following conditions [FDA label]: **Non–Hodgkin’s Lymphoma (NHL)** **Chronic Lymphocytic Leukemia (CLL)** **Rheumatoid Arthritis (RA) in combination with methotrexate in adult patients with moderately-to severely-active RA** **Granulomatosis with Polyangiitis (GPA) (Wegener’s Granulomatosis) and Microscopic Polyangiitis (MPA)** **Moderate to severe Pemphigus Vulgaris (PV) in adult patients** The biosimilar (approved in November 2018), _Truxima_, is indicated For the treatment of adult patients with CD20-positive, B-cell non-Hodgkin’s lymphoma (NHL) to be used as a single agent or in combination with chemotherapy [L4808]. DB00073

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

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
2
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
4
Mycophenolic acid Approved Phase 3 24280-93-1 446541
5
rituximab Approved Phase 3 174722-31-7 10201696
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
10
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
11
ofatumumab Approved Phase 3 679818-59-8 6918251
12
Acetaminophen Approved Phase 3 103-90-2 1983
13
Histamine Approved, Investigational Phase 3 51-45-6 774
14
Cetirizine Approved Phase 3 83881-51-0 2678
15
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
16
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
17 Triamcinolone hexacetonide Phase 3
18 triamcinolone acetonide Phase 3
19 Triamcinolone diacetate Phase 3
20 HIV Protease Inhibitors Phase 2, Phase 3
21
protease inhibitors Phase 2, Phase 3
22 BB 1101 Phase 2, Phase 3
23 gamma-Globulins Phase 3
24 Immunoglobulins, Intravenous Phase 3
25 Rho(D) Immune Globulin Phase 3
26 Antitubercular Agents Phase 3
27 Antirheumatic Agents Phase 3
28 Antineoplastic Agents, Immunological Phase 3
29 Antibodies Phase 3
30 Immunoglobulins Phase 3
31 Analgesics Phase 3
32 Anti-Inflammatory Agents Phase 3
33 Analgesics, Non-Narcotic Phase 3
34 Gastrointestinal Agents Phase 3
35 Peripheral Nervous System Agents Phase 3
36 Immunologic Factors Phase 3
37 glucocorticoids Phase 3
38 Hormones Phase 3
39 Hormone Antagonists Phase 3
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
41 Prednisolone acetate Phase 3
42 Methylprednisolone Acetate Phase 3
43 Antineoplastic Agents, Hormonal Phase 3
44 Antibodies, Monoclonal Phase 3
45 Neurotransmitter Agents Phase 3
46 Anti-Allergic Agents Phase 3
47 Antiemetics 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 55)
# 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 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)
5 EVALUATION CLINIQUE ET BIOLOGIQUE A LONG TERME DES PATIENTS ATTEINTS DE FORMES SEVERES DE PEMPHIGUS TRAITES PAR LE RITUXIMAB Completed NCT01299857 Phase 3 Rituximab
6 Traitment of Patients Presenting Pemphigus With Anti CD20 (Mabthera). Completed NCT00213512 Phase 2, Phase 3 Mabthera
7 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
8 Comparison Between Monoclonal Antibody CD20 Treatment (Rituximab (mabthéra))and General Corticotherapy Treatment in Patients With Pemphigus Completed NCT00784589 Phase 3 General Corticotherapy;Rituximab
9 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
10 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
11 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 Active, not recruiting NCT02383589 Phase 3 Mycophenolate Mofetil Placebo;Mycophenolate Mofetil;Rituximab;Rituximab Placebo
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 Double-Blinded, Placebo-Controlled Study of Etanercept (Enbrel) in the Treatment of Pemphigus Vulgaris Completed NCT00135720 Phase 2 Enbrel (Etanercept)
16 A Phase 2 Open-Label Uncontrolled Pilot Study of KC706 in Patients With Stable, Active Pemphigus Vulgaris Completed NCT00606749 Phase 2 KC706
17 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
18 A Randomized, Double-Blind, Placebo-Controlled Phase II Trial of Infliximab in Subjects With Pemphigus Vulgaris Receiving Prednisone Completed NCT00283712 Phase 2 Infliximab
19 Rituximab in the Treatment of Patients With Bullous Pemphigoid Completed NCT00286325 Phase 1, Phase 2 Rituximab
20 Phase II Study of High-Dose Cyclophosphamide in Patients With Refractory Pemphigus Completed NCT00010413 Phase 2 cyclophosphamide;filgrastim
21 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
22 Phase I/II Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
23 A Phase 1b/2, Multicenter, Open-Label, Safety, and Dose-Finding Study of SYNT001 in Subjects With Pemphigus (Vulgaris or Foliaceus) Recruiting NCT03075904 Phase 1, Phase 2 SYNT001
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 A Randomized, Partial-blind, Placebo-controlled Trial Evaluating the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of VAY736 in the Treatment of Patients With Pemphigus Vulgaris Active, not recruiting NCT01930175 Phase 2 VAY736;Placebo to VAY736;VAY736
26 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
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 Prospective Randomized Placebo-Controlled Clinical Trial of Dapsone as a Glucocorticoid-Sparing Agent in Maintenance Phase Pemphigus Vulgaris Terminated NCT00429533 Phase 2 Dapsone
29 Phase 2 Randomized Trial of IVIg With or Without Cyclophosphamide in Pemphigus Terminated NCT00483119 Phase 2 intravenous immunoglobulin;cyclophosphamide
30 A Phase 2 Dose-Escalation Study of the Safety and Tolerability of Parsaclisib in Participants With Pemphigus Vulgaris Withdrawn NCT03780166 Phase 2 Parsaclisib
31 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
32 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
33 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
34 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
35 Rituximab (Anti-CD20) for the Treatment of Subjects With Anticytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab
36 High Dose Cyclophosphamide & ATG With Hematopoietic Stem Cell Support in Patients With Autoimmune Bullous Skin Disorders: A Phase I Trial Terminated NCT00278642 Phase 1
37 Serum IL-21 Levels in Patients With Pemphigus Vulgaris Unknown status NCT03177213
38 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
39 Identification of Vulnerability Factors in the Course of Pemphigus Patients - SHS Pemphigus Clinical Trial Unknown status NCT02237313
40 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079
41 An Open Randomized Comparative Trial of Four Different Dressings for Cutaneous Coverage in Pemphigus and Pemphigoid Unknown status NCT02365675
42 Low Dose (1mcg) ACTH Stimulation Test for Assessment of the Hypothalamo-Pituitary- Adrenal Axis in Patients Treated With Topical Corticosteroids Unknown status NCT00476489
43 Serum Free Fatty Acids Desaturase Activity Indices in Sera of Patients on Long-term High-dose Corticosteroid Treatment Unknown status NCT02872584 Prednisone
44 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
45 Immunological Changes in Chronic Graft Versus Host Disease Treated With Extracorporeal Photopheresis Completed NCT01174277
46 Comparison of Two Therapeutic Strategies of Dermoval in Treatment of Bullous Pemphigus Completed NCT00213421 Dermoval
47 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®).
48 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
49 A Controlled Cross Sectional Study: Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Completed NCT03129308
50 Prevalence and Clinical Severity of Autoimmune Blistering Diseases Recruiting NCT02753777

Search NIH Clinical Center for Pemphigus Vulgaris, Familial

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Dapsone
Rituximab

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:

41
Skin, T Cells, Testes, B Cells, Cervix, Thyroid, Neutrophil

Publications for Pemphigus Vulgaris, Familial

Articles related to Pemphigus Vulgaris, Familial:

(show top 50) (show all 3563)
# Title Authors PMID Year
1
Desmoglein 3-specific T regulatory 1 cells consist of two subpopulations with differential expression of the transcription factor Foxp3. 38 8
18800988 2009
2
Evidence of key role of Cdk2 overexpression in pemphigus vulgaris. 38 8
18199752 2008
3
p38MAPK inhibition prevents disease in pemphigus vulgaris mice. 38 8
16908851 2006
4
Major histocompatibility complex haplotypes and class II genes in non-Jewish patients with pemphigus vulgaris. 38 8
1675792 1991
5
Major histocompatibility complex haplotype studies in Ashkenazi Jewish patients with pemphigus vulgaris. 38 8
2217197 1990
6
Prolonged remission after cyclosporine therapy in pemphigus vulgaris: report of two young siblings. 38 8
2229498 1990
7
Specific HLA-DQB and HLA-DRB1 alleles confer susceptibility to pemphigus vulgaris. 38 8
2503828 1989
8
Familial pemphigus vulgaris with oral manifestations affecting two Greek families. 38 8
2664132 1989
9
Induction of pemphigus in neonatal mice by passive transfer of IgG from patients with the disease. 38 8
7040962 1982
10
HLA-DRw4 in pemphigus vulgaris patients in Israel. 38 8
6936869 1980
11
HLA-DRW4 in 91% of Jewish pemphigus vulgaris patients. 38 8
89501 1979
12
Familial occurrence of pemphigus foliaceus. 8
4577497 1973
13
Binding of pemphigus vulgaris IgG to antigens in desmosome core domains excludes immune complexes rather than directly splitting desmosomes. 9 38
20222919 2010
14
Clinical activity of pemphigus vulgaris relates to IgE autoantibodies against desmoglein 3. 9 38
20015693 2010
15
Association of human leukocyte antigen class II alleles with pemphigus vulgaris in a Turkish population. 9 38
20507388 2010
16
p38MAPK signaling and desmoglein-3 internalization are linked events in pemphigus acantholysis. 9 38
20093368 2010
17
Investigation of human keratinocyte cell adhesion using atomic force microscopy. 9 38
19616642 2010
18
Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer. 9 38
19997107 2010
19
TNF-alpha and IL-10 gene polymorphisms show a weak association with pemphigus vulgaris in the Slovak population. 9 38
19470040 2010
20
Autoantibodies against desmocollins in European patients with pemphigus. 9 38
19456767 2009
21
Development of ELISA for the specific determination of autoantibodies against envoplakin and periplakin in paraneoplastic pemphigus. 9 38
19737550 2009
22
Dermatoses affecting desmosomes in animals: a mechanistic review of acantholytic blistering skin diseases. 9 38
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. 9 38
19282839 2009
24
Apoptosis in pemphigus. 9 38
19189866 2009
25
Desmoglein ELISA in the diagnosis of pemphigus and its correlation with the severity of pemphigus vulgaris. 9 38
19279360 2009
26
Peptides Targeting the Desmoglein 3 Adhesive Interface Prevent Autoantibody-induced Acantholysis in Pemphigus. 9 38
19164289 2009
27
High-dose pemphigus antibodies against linear epitopes of desmoglein 3 (Dsg3) can induce acantholysis and depletion of Dsg3 from keratinocytes. 9 38
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. 9 38
20049340 2009
29
Novel therapies for pemphigus vulgaris: an overview. 9 38
19761276 2009
30
Effect of intravenous immunoglobulin therapy on serum levels of IgG1 and IgG4 antidesmoglein 1 and antidesmoglein 3 antibodies in pemphigus vulgaris. 9 38
19075146 2008
31
Advances in pemphigus and its endemic pemphigus foliaceus (Fogo Selvagem) phenotype: a paradigm of human autoimmunity. 9 38
18838249 2008
32
Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. 9 38
18505410 2008
33
Anti-desmoglein IgG autoantibodies in patients with pemphigus in remission. 9 38
18410336 2008
34
Immunological hotspots analyzed by docking simulations: evidence for a general mechanism in pemphigus vulgaris pathology and transformation. 9 38
18564435 2008
35
Expression of pemphigus-autoantigen desmoglein 1 in human thymus. 9 38
18331528 2008
36
Expression of HLA-G in the skin of patients with pemphigus vulgaris. 9 38
18322306 2008
37
Expression of vinculin in autoimmune cutaneous diseases. 9 38
18327013 2008
38
Desmoglein 1 and 3 enzyme-linked immunosorbent assay in Iranian patients with pemphigus vulgaris: correlation with phenotype, severity, and disease activity. 9 38
17958835 2007
39
Pemphigus vegetans Neumann type with anti-desmoglein and anti-periplakin autoantibodies. 9 38
17951135 2007
40
Pemphigus IgG causes skin splitting in the presence of both desmoglein 1 and desmoglein 3. 9 38
17640963 2007
41
No activation of urokinase plasminogen activator by anti-desmoglein 3 monoclonal IgG antibodies in cultured human keratinocytes. 9 38
17532189 2007
42
Targeting pemphigus autoantibodies through their heavy-chain variable region genes. 9 38
17392832 2007
43
Pemphigus vulgaris immunoglobulin G can recognize a 130 000 MW antigen other than desmoglein 3 on peripheral blood mononuclear cell surface. 9 38
17386081 2007
44
IgG autoantibodies directed against desmoglein 3 cause dissociation of keratinocytes in canine pemphigus vulgaris and paraneoplastic pemphigus. 9 38
17350107 2007
45
Desmoglein versus non-desmoglein signaling in pemphigus acantholysis: characterization of novel signaling pathways downstream of pemphigus vulgaris antigens. 9 38
17344213 2007
46
Coexistence of IgA antibodies to desmogleins 1 and 3 in pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. 9 38
17263817 2007
47
Ear, nose and throat manifestations in pemphigus vulgaris. 9 38
17493073 2007
48
Pemphigus vulgaris: recent advances in our understanding of its pathogenesis. 9 38
17452959 2007
49
Detection of low avidity desmoglein 3-reactive T cells in pemphigus vulgaris using HLA-DR beta 1*0402 tetramers. 9 38
17113829 2007
50
Serum chemokine profile in patients with bullous pemphigoid. 9 38
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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 PPL JUP EVPL DSP DSG4 DSG3
2
Show member pathways
12.33 JUP DST CDH3 CDH1
3
Show member pathways
11.86 JUP DSP DSG2
4
Show member pathways
11.73 PPL JUP EVPL DSP DSG4 DSG3
5 11.71 JUP DSP CDH3 CDH1
6
Show member pathways
11.59 PPL EVPL DST DSP
7
Show member pathways
11.42 DSP DSG3 DSG2 DSG1 CDH1
8 11.15 JUP CDH3 CDH1
9 11.12 JUP CDH1
10 10.98 JUP CDH1
11 10.94 JUP DSP

GO Terms for Pemphigus Vulgaris, Familial

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.96 PPL JUP EVPL DST DSP
2 cell junction GO:0030054 9.9 PPL JUP EVPL DST DSP DSG4
3 intermediate filament GO:0005882 9.77 PPL JUP EVPL DST DSP
4 cell-cell adherens junction GO:0005913 9.71 JUP CDH3 CDH1
5 cytoplasmic side of plasma membrane GO:0009898 9.67 JUP DSG1 CDH1
6 intercalated disc GO:0014704 9.65 JUP DSP DSG2
7 cell-cell junction GO:0005911 9.65 JUP DSP DSG2 DSG1 DSC3
8 lateral plasma membrane GO:0016328 9.62 JUP DSG2 DSG1 CDH1
9 catenin complex GO:0016342 9.61 JUP CDH3 CDH1
10 desmosome GO:0030057 9.61 PPL JUP EVPL DSP DSG4 DSG3
11 fascia adherens GO:0005916 9.52 JUP DSP
12 hemidesmosome GO:0030056 9.51 JUP DST
13 cornified envelope GO:0001533 9.28 PPL JUP EVPL DSP DSG4 DSG3
14 membrane GO:0016020 10.23 PPL JUP EVPL DST DSP DSG4
15 plasma membrane GO:0005886 10.14 PPL JUP DST DSP DSG4 DSG3
16 extracellular exosome GO:0070062 10.09 PPL JUP EVPL DSP DSG3 DSG2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 JUP DST DSG4 DSG3 DSG2 DSG1
2 wound healing GO:0042060 9.8 PPL EVPL DST DSP CDH3
3 cell-cell adhesion GO:0098609 9.8 JUP DSP DSG4 DSG1 CDH3 CDH1
4 adherens junction organization GO:0034332 9.76 JUP DSP CDH3 CDH1
5 keratinocyte differentiation GO:0030216 9.73 EVPL DSP DSG4
6 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.7 DSG1 CDH3 CDH1
7 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.7 DSG4 DSG3 DSG2 DSG1 DSC3 CDH3
8 cell-cell junction assembly GO:0007043 9.69 DSG1 CDH3 CDH1
9 regulation of heart rate by cardiac conduction GO:0086091 9.67 JUP DSP DSG2
10 intermediate filament cytoskeleton organization GO:0045104 9.67 PPL EVPL DST DSP
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 JUP DSP DSG2
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.61 JUP DSP DSG2
13 cornification GO:0070268 9.61 PPL JUP EVPL DSP DSG4 DSG3
14 skin development GO:0043588 9.6 JUP DSP
15 response to progesterone GO:0032570 9.59 DSG2 DSG1
16 positive regulation of protein import into nucleus GO:0042307 9.58 JUP CDH1
17 cell-cell adhesion mediated by cadherin GO:0044331 9.58 CDH3 CDH1
18 maternal process involved in female pregnancy GO:0060135 9.57 DSG2 DSG1
19 desmosome organization GO:0002934 9.55 DSP DSG2
20 cellular response to indole-3-methanol GO:0071681 9.54 JUP CDH1
21 keratinization GO:0031424 9.32 PPL JUP EVPL DSP DSG4 DSG3

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 structural molecule activity GO:0005198 9.65 PPL JUP EVPL DST DSP
3 cytoskeletal protein binding GO:0008092 9.54 DST CDH3 CDH1
4 cell adhesion molecule binding GO:0050839 9.46 JUP DSP DSG2 CDH1
5 gamma-catenin binding GO:0045295 9.4 DSG1 CDH1
6 calcium ion binding GO:0005509 9.23 DST DSG4 DSG3 DSG2 DSG1 DSC3
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 JUP DSP DSG2
8 metal ion binding GO:0046872 10.03 DST DSG4 DSG3 DSG2 DSG1 DSC3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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