MCID: PMP006
MIFTS: 26

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 53 72
Pemphigus Vulgaris 55 69

Characteristics:

Orphanet epidemiological data:

55
pemphigus vulgaris
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult,Elderly;

OMIM:

53
Inheritance:
autosomal dominant form


HPO:

31
pemphigus vulgaris, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 169610
Orphanet 55 ORPHA704
UMLS via Orphanet 70 C0030809
ICD10 via Orphanet 33 L10.0
MedGen 39 C1868502
SNOMED-CT via HPO 65 263681008

Summaries for Pemphigus Vulgaris, Familial

OMIM : 53 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, and has symptoms including abnormality of the oral cavity, atypical scarring of skin and urticaria. Affiliated tissues include skin.

Wikipedia : 72 Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus. It... 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 10.1

Symptoms & Phenotypes for Pemphigus Vulgaris, Familial

Symptoms via clinical synopsis from OMIM:

53
Skin:
pemphigus vulgaris
mucosal blisters
skin blisters

Misc:
response to cyclosporin
hla association

Immunology:
autoimmune disease

Lab:
circulating antibody to intercellular cement substance


Clinical features from OMIM:

169610

Human phenotypes related to Pemphigus Vulgaris, Familial:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity 55 Very frequent (99-80%)
2 atypical scarring of skin 55 Very frequent (99-80%)
3 urticaria 55 Very frequent (99-80%)
4 weight loss 55 Very frequent (99-80%)
5 recurrent infections 55 Very frequent (99-80%)
6 autoimmunity 55 Very frequent (99-80%)
7 abnormal blistering of the skin 55 Very frequent (99-80%)
8 feeding difficulties in infancy 55 Very frequent (99-80%)
9 acantholysis 55 Very frequent (99-80%)
10 recurrent cutaneous abscess formation 55 Very frequent (99-80%)
11 autoimmune antibody positivity 31 HP:0030057
12 oral mucosal blisters 31 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:

38
Skin

Publications for Pemphigus Vulgaris, Familial

Articles related to Pemphigus Vulgaris, Familial:

(show top 50) (show all 914)
# Title Authors Year
1
A Case of Concomitant Pemphigus Foliaceus and Oral Pemphigus Vulgaris. ( 29340948 )
2018
2
Association between HLA-DQB1 polymorphisms and pemphigus vulgaris: A meta-analysis. ( 29182409 )
2018
3
Pemphigus trigger factors: special focus on pemphigus vulgaris and pemphigus foliaceus. ( 29110080 )
2018
4
A case of pemphigus vulgaris associated with ulcerative colitis. ( 29422810 )
2018
5
Pemphigus Vulgaris and Radiotherapy. ( 29097073 )
2018
6
An Oral Disease Severity Score (ODSS) validated for use in oral pemphigus vulgaris. ( 29297927 )
2018
7
Sixteen-year history of rituximab therapy for 1085 pemphigus vulgaris patients: A systematic review. ( 29132070 )
2018
8
Feasibility study for clinical application of caspase-3 inhibitors in Pemphigus vulgaris. ( 29105150 )
2017
9
Pemphigus Vulgaris and Pemphigus Foliaceus: Differences in Epidemiology and Mortality. ( 28536732 )
2017
10
Recurrent Paronychia as a Presenting Manifestation of Pemphigus Vulgaris: A Case Report. ( 28611998 )
2017
11
Salivary Samples for the Diagnosis of Pemphigus vulgaris Using the BIOCHIP Approach: a Pilot Study. ( 28064226 )
2017
12
Location of oral lesions predicts treatment resistance in pemphigus vulgaris. ( 29313939 )
2017
13
Miniaturization of sebaceous glands: A novel histopathological finding in pemphigus vulgaris and pemphigus foliaceus of the scalp. ( 28632917 )
2017
14
Anterior Scleritis Associated with Pemphigus Vulgaris. ( 29095065 )
2017
15
A novel lateral flow immunoassay for the rapid detection of anti-Dsg3 IgG serum autoantibodies in pemphigus vulgaris. ( 29278440 )
2017
16
Successful and well-tolerated bi-weekly immunoadsorption regimen in pemphigus vulgaris. ( 29096849 )
2017
17
A reciprocal HLA-Disease Association in Rheumatoid Arthritis and Pemphigus Vulgaris. ( 27814654 )
2017
18
Delayed and localized pemphigus vulgaris after breast cancer radiotherapy. ( 28892216 )
2017
19
A review on botanicals with wound healing activity for pemphigus vulgaris<i>:</i>perspective of traditional Persian medicine and conventional medicine. ( 29299431 )
2017
20
Rituximab and short-course prednisone as the new gold standard for new-onset pemphigus vulgaris and pemphigus foliaceus. ( 29192985 )
2017
21
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
22
Alopecia developed in a transitional case from pemphigus foliaceus to pemphigus vulgaris. ( 28681532 )
2017
23
Virusreaktivierung tAouscht Rezidiv des Pemphigus vulgaris bei einer immunsupprimierten Patientin vor. ( 29106014 )
2017
24
Geographical foci and epidemiological changes of pemphigus vulgaris in four decades in Southeastern Brazil. ( 28737218 )
2017
25
Extragenital lichen sclerosus et atrophicus co-exististing with pemphigus vulgaris. ( 28217480 )
2017
26
Th1 polarizing I^I'-T cells and Scavenger Receptors contribute to the pathogenesis of Pemphigus Vulgaris. ( 28815581 )
2017
27
HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study. ( 29252170 )
2017
28
Oral pemphigus vulgaris: Liquid-based cytological findings and pitfalls. ( 28799730 )
2017
29
Pregnancy outcome after rituximab treatment before conception in patients affected by severe pemphigus vulgaris/superficialis. ( 28079925 )
2017
30
The Effect of Low Level Laser Therapy on Pemphigus Vulgaris Lesions: A Pilot Study. ( 29071023 )
2017
31
Rituximab administration in a patient with pemphigus vulgaris following reactivation of occult hepatitis B virus infection. ( 28633752 )
2017
32
British Association of Dermatologists' guidelines for the management of pemphigus vulgaris 2017. ( 29192996 )
2017
33
Viral reactivation imitates relapse of pemphigus vulgaris in an immunosuppressed patient. ( 28921892 )
2017
34
Herpes simplex virus 1 and cytomegalovirus are associated with pemphigus vulgaris but not with pemphigus foliaceus disease. ( 28370424 )
2017
35
Exacerbated pemphigus vulgaris superinfected with herpes virus II, chemoattracting a florid inflammatory response. ( 28704987 )
2017
36
Cutaneous Mucormycosis: A Fatal Complication of Immunosuppressant Therapy for Pemphigus Vulgaris. ( 29282189 )
2017
37
Assessment of the Prevalence and Risk Factors Associated With Glucocorticoid-Induced Diabetes Mellitus in Pemphigus Vulgaris Patients. ( 28843238 )
2017
38
Pemphigus vulgaris and pemphigus foliaceus determined by CD86 and CTLA4 polymorphisms. ( 28274366 )
2017
39
Oral mucous membrane pemphigoid and pemphigus vulgaris- a retrospective two-center cohort study. ( 28084005 )
2017
40
NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a Chinese man with pemphigus vulgaris. ( 28733976 )
2017
41
Correlation between polymorphisms of the NR3C1 gene and glucocorticoid effectiveness in patients with pemphigus vulgaris. ( 28928407 )
2017
42
Grover's disease in a patient with pemphigus vulgaris. ( 28766705 )
2017
43
Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients. ( 28197992 )
2017
44
Mean Platelet Volume in Pemphigus Vulgaris. ( 28681645 )
2017
45
Dermatoscopy in Diagnosis of Cutaneous Myiasis Arising in Pemphigus Vulgaris Lesions. ( 28794566 )
2017
46
Selective Plasma Exchange for the Removal of Pemphigus Autoantibodies, Fibrinogen, and Factor XIII in Pemphigus Vulgaris. ( 28661086 )
2017
47
Cytokine Indexes in Pemphigus Vulgaris: Perception of Its Immunpathogenesis and Hopes for Non-Steroidal Treatment. ( 29201111 )
2017
48
Relieving Pain in Oral Lesions of Pemphigus Vulgaris Using the Non-ablative, Non-thermal, CO2 Laser Therapy (NTCLT): Preliminary Results of a Novel Approach. ( 28912937 )
2017
49
Appearance of anti-desmocollin 1 autoantibodies leading to a vegetative lesion in a pemphigus vulgaris patient. ( 28734006 )
2017
50
Pemphigus vulgaris successfully treated with doxycycline monotherapy. ( 27416094 )
2016

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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