Pemphigus vulgaris

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 704
OMIM Id: 169610
ICD-10: L10.0
UMLs: C0030809
MeSH:
MedDRA: 10052802
Snomed: 49420001

Prevalence, inheritance and age of onset:

Prevalence: 18 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoimmune bullous skin disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0200097) Oral mucosal blisters 7 / 7739
2
(HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
3
(HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
4
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
5
(HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
6
(HPO:0008066) Abnormal blistering of the skin 20 / 7739
7
(HPO:0100838) Recurrent cutaneous abscess formation Very frequent [Orphanet] 15 / 7739
8
(HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
9
(HPO:0100792) Acantholysis Very frequent [Orphanet] 11 / 7739
10
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
11
(HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
12
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Circulating antibody to intercellular cement substance 1 / 7739
15
(HPO:0030057) Autoimmune antibody positivity 6 / 7739
16
(OMIM) Pemphigus vulgaris 1 / 7739
17
(OMIM) Mucosal blisters 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM Pemphigus vulgaris has rarely been observed in multiple members of families, and in many of the reported cases, full histopathologic and/or immunopathologic confirmation has been lacking. The first documented report of familial occurrence was that of Voelter et ...