MCID: PMP006
MIFTS: 28

Pemphigus Vulgaris, Familial

Categories: Skin diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Pemphigus Vulgaris, Familial

MalaCards integrated aliases for Pemphigus Vulgaris, Familial:

Name: Pemphigus Vulgaris, Familial 57 76
Pemphigus Vulgaris 59 73

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:

OMIM 57 169610
Orphanet 59 ORPHA704
UMLS via Orphanet 74 C0030809
ICD10 via Orphanet 34 L10.0
MedGen 42 C1868502
SNOMED-CT via HPO 69 263681008

Summaries for Pemphigus Vulgaris, Familial

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)

MalaCards based summary : Pemphigus Vulgaris, Familial, also known as pemphigus vulgaris, is related to pemphigus vulgaris and pemphigus. Affiliated tissues include skin, t cells and b cells, and related phenotypes are abnormality of the oral cavity and atypical scarring of skin

Wikipedia : 76 Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus.... more...

Related Diseases for Pemphigus Vulgaris, Familial

Diseases in the Pemphigus Vulgaris family:

Pemphigus Vulgaris, Familial

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

# Related Disease Score Top Affiliating Genes
1 pemphigus vulgaris 11.7
2 pemphigus 9.8

Symptoms & Phenotypes for Pemphigus Vulgaris, Familial

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

Human phenotypes related to Pemphigus Vulgaris, Familial:

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

Drugs & Therapeutics for Pemphigus Vulgaris, Familial

Search Clinical Trials , NIH Clinical Center for Pemphigus Vulgaris, Familial

Genetic Tests for Pemphigus Vulgaris, Familial

Anatomical Context for Pemphigus Vulgaris, Familial

MalaCards organs/tissues related to Pemphigus Vulgaris, Familial:

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

Publications for Pemphigus Vulgaris, Familial

Articles related to Pemphigus Vulgaris, Familial:

(show top 50) (show all 940)
# Title Authors Year
1
New biochip immunofluorescence test for the serological diagnosis of pemphigus vulgaris and foliaceus: A review of the literature. ( 29872685 )
2018
2
A case of antiepiligrin cicatricial pemphigoid with extensive cutaneous erosions mimicking pemphigus vulgaris. ( 29930192 )
2018
3
Psoriasis vulgaris in a patient with pemphigus vulgaris on corticosteroid therapy. ( 29689136 )
2018
4
Comparison of ethylenediaminetetraacetic acid-treated desmoglein ELISA and conventional desmoglein ELISA in the evaluation of pemphigus vulgaris in remission. ( 29609015 )
2018
5
An Oral Disease Severity Score (ODSS) validated for use in oral pemphigus vulgaris. ( 29297927 )
2018
6
Validity of the EQ-5D in pemphigus vulgaris and foliaceus patients. ( 29897626 )
2018
7
Keratin Retraction and Desmoglein3 Internalization Independently Contribute to Autoantibody-Induced Cell Dissociation in Pemphigus Vulgaris. ( 29922278 )
2018
8
Facilitated subcutaneous immunoglobulin treatment in pemphigus vulgaris. ( 29848521 )
2018
9
Pemphigus Vulgaris and Radiotherapy. ( 29097073 )
2018
10
Auftreten einer Psoriasis vulgaris bei einem Patienten mit Pemphigus vulgaris unter Kortikosteroidtherapie. ( 29750447 )
2018
11
A Case of Concomitant Pemphigus Foliaceus and Oral Pemphigus Vulgaris. ( 29340948 )
2018
12
Exploring the in situ expression of vascular endothelial growth factor and endoglin in pemphigus foliaceus variants and pemphigus vulgaris. ( 29489039 )
2018
13
A case of pemphigus vulgaris associated with ulcerative colitis. ( 29422810 )
2018
14
Increased expression of microRNA-338-3p contributes to production of Dsg3 antibody in pemphigus vulgaris patients. ( 29749496 )
2018
15
Study of Extrinsic Apoptotic Pathway in Oral Pemphigus Vulgaris Using TNFR 1 and FasL Immunohistochemical Markers and TUNEL Technique. ( 29854887 )
2018
16
Non-Desmoglein Antibodies in Patients With Pemphigus Vulgaris. ( 29915578 )
2018
17
Tracing the origins of active amide group-positive drug-induced pemphigus vulgaris along the Silk Road: a case report of candesartan-induced pemphigus vulgaris and review of nonthiol drug-induced pemphigus. ( 29974942 )
2018
18
Immunological markers as predictors of developing steroid-induced diabetes mellitus in pemphigus vulgaris patients: An observational study. ( 29702999 )
2018
19
Incidence of pemphigus vulgaris and pemphigus foliaceus in North-East Poland (Podlaskie Province) - a 15-year (2001-2015) bicentric retrospective study. ( 29873080 )
2018
20
Contact allergy caused by methylisothiazolinone in a mouthwash as the likely trigger of oral pemphigus vulgaris. ( 29726598 )
2018
21
Anti-Thyroid Peroxidase Reactivity Is Heightened in Pemphigus Vulgaris and Is Driven by Human Leukocyte Antigen Status and the Absence of Desmoglein Reactivity. ( 29675021 )
2018
22
Pemphigus trigger factors: special focus on pemphigus vulgaris and pemphigus foliaceus. ( 29110080 )
2018
23
Association between human leukocyte antigen-DRB1 and human leukocyte antigen-DQB1 alleles and pemphigus vulgaris in Indian patients: A case-control study. ( 29582787 )
2018
24
Emerging treatment options for the management of pemphigus vulgaris. ( 29740210 )
2018
25
Sixteen-year history of rituximab therapy for 1085 pemphigus vulgaris patients: A systematic review. ( 29132070 )
2018
26
Association study and fine-mapping major histocompatibility complex analysis of pemphigus vulgaris in a Han Chinese population. ( 29857070 )
2018
27
Autoantibody Signaling in Pemphigus Vulgaris: Development of an Integrated Model. ( 29755451 )
2018
28
Association between HLA-DQB1 polymorphisms and pemphigus vulgaris: A meta-analysis. ( 29182409 )
2018
29
Recurrent Paronychia as a Presenting Manifestation of Pemphigus Vulgaris: A Case Report. ( 28611998 )
2017
30
Alopecia developed in a transitional case from pemphigus foliaceus to pemphigus vulgaris. ( 28681532 )
2017
31
Assessment of the Prevalence and Risk Factors Associated With Glucocorticoid-Induced Diabetes Mellitus in Pemphigus Vulgaris Patients. ( 28843238 )
2017
32
British Association of Dermatologists' guidelines for the management of pemphigus vulgaris 2017. ( 29192996 )
2017
33
The Effect of Low Level Laser Therapy on Pemphigus Vulgaris Lesions: A Pilot Study. ( 29071023 )
2017
34
Salivary Samples for the Diagnosis of Pemphigus vulgaris Using the BIOCHIP Approach: a Pilot Study. ( 28064226 )
2017
35
Correlation between polymorphisms of the NR3C1 gene and glucocorticoid effectiveness in patients with pemphigus vulgaris. ( 28928407 )
2017
36
Dermatoscopy in Diagnosis of Cutaneous Myiasis Arising in Pemphigus Vulgaris Lesions. ( 28794566 )
2017
37
Effects of L-carnitine supplementation on biomarkers of oxidative stress, antioxidant capacity and lipid profile, in patients with pemphigus vulgaris: a randomized, double-blind, placebo-controlled trial. ( 28832573 )
2017
38
Grover's disease in a patient with pemphigus vulgaris. ( 28766705 )
2017
39
Cytokine Indexes in Pemphigus Vulgaris: Perception of Its Immunpathogenesis and Hopes for Non-Steroidal Treatment. ( 29201111 )
2017
40
A review on botanicals with wound healing activity for pemphigus vulgaris<i>:</i>perspective of traditional Persian medicine and conventional medicine. ( 29299431 )
2017
41
Pemphigus vulgaris and pemphigus foliaceus determined by CD86 and CTLA4 polymorphisms. ( 28274366 )
2017
42
Oral pemphigus vulgaris: Liquid-based cytological findings and pitfalls. ( 28799730 )
2017
43
Cutaneous Mucormycosis: A Fatal Complication of Immunosuppressant Therapy for Pemphigus Vulgaris. ( 29282189 )
2017
44
Viral reactivation imitates relapse of pemphigus vulgaris in an immunosuppressed patient. ( 28921892 )
2017
45
Oral mucous membrane pemphigoid and pemphigus vulgaris- a retrospective two-center cohort study. ( 28084005 )
2017
46
Pemphigus Vulgaris and Pemphigus Foliaceus: Differences in Epidemiology and Mortality. ( 28536732 )
2017
47
Virusreaktivierung tAouscht Rezidiv des Pemphigus vulgaris bei einer immunsupprimierten Patientin vor. ( 29106014 )
2017
48
Geographical foci and epidemiological changes of pemphigus vulgaris in four decades in Southeastern Brazil. ( 28737218 )
2017
49
A reciprocal HLA-Disease Association in Rheumatoid Arthritis and Pemphigus Vulgaris. ( 27814654 )
2017
50
Pregnancy outcome after rituximab treatment before conception in patients affected by severe pemphigus vulgaris/superficialis. ( 28079925 )
2017

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

GO Terms for Pemphigus Vulgaris, Familial

Sources for Pemphigus Vulgaris, Familial

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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