MCID: PMP006
MIFTS: 15

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 54
Pemphigus Vulgaris 56 69

Characteristics:

Orphanet epidemiological data:

56
pemphigus vulgaris
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult,Elderly;

OMIM:

54
Inheritance:
autosomal dominant form


HPO:

32
pemphigus vulgaris, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 169610
Orphanet 56 ORPHA704
UMLS via Orphanet 70 C0030809
ICD10 via Orphanet 34 L10.0
SNOMED-CT via HPO 65 263681008

Summaries for Pemphigus Vulgaris, Familial

OMIM : 54
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 recurrent infections, feeding difficulties in infancy and weight loss. Affiliated tissues include skin.

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:

id Related Disease Score Top Affiliating Genes
1 pemphigus vulgaris 11.6
2 pemphigus 10.0

Symptoms & Phenotypes for Pemphigus Vulgaris, Familial

Symptoms via clinical synopsis from OMIM:

54

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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent infections 56 Very frequent (99-80%)
2 feeding difficulties in infancy 56 Very frequent (99-80%)
3 weight loss 56 Very frequent (99-80%)
4 urticaria 56 Very frequent (99-80%)
5 acantholysis 56 Very frequent (99-80%)
6 abnormal blistering of the skin 56 Very frequent (99-80%)
7 atypical scarring of skin 56 Very frequent (99-80%)
8 autoimmunity 56 Very frequent (99-80%)
9 recurrent cutaneous abscess formation 56 Very frequent (99-80%)
10 abnormality of the oral cavity 56 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:

39
Skin

Publications for Pemphigus Vulgaris, Familial

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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