EBSS
MCID: EPD052
MIFTS: 17

Epidermolysis Bullosa Simplex Superficialis (EBSS)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex Superficialis

MalaCards integrated aliases for Epidermolysis Bullosa Simplex Superficialis:

Name: Epidermolysis Bullosa Simplex Superficialis 58 60 74
Ebss 58 60

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex superficialis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 607600
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C1843477
Orphanet 60 ORPHA89839
MedGen 43 C1843477
UMLS 74 C1843477

Summaries for Epidermolysis Bullosa Simplex Superficialis

MalaCards based summary : Epidermolysis Bullosa Simplex Superficialis, also known as ebss, is related to peeling skin syndrome and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex Superficialis is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are skin erosion and hypoplasia of dental enamel

Description from OMIM: 607600

Related Diseases for Epidermolysis Bullosa Simplex Superficialis

Diseases related to Epidermolysis Bullosa Simplex Superficialis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 10.3
2 epidermolysis bullosa 10.3
3 epidermolysis bullosa simplex 10.3

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex Superficialis

Human phenotypes related to Epidermolysis Bullosa Simplex Superficialis:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
2 hypoplasia of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0006297
3 milia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001056
4 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
5 fragile skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001030

Clinical features from OMIM:

607600

Drugs & Therapeutics for Epidermolysis Bullosa Simplex Superficialis

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex Superficialis

Genetic Tests for Epidermolysis Bullosa Simplex Superficialis

Anatomical Context for Epidermolysis Bullosa Simplex Superficialis

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex Superficialis:

42
Skin

Publications for Epidermolysis Bullosa Simplex Superficialis

Articles related to Epidermolysis Bullosa Simplex Superficialis:

# Title Authors Year
1
Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. ( 2653224 )
1989

Variations for Epidermolysis Bullosa Simplex Superficialis

Expression for Epidermolysis Bullosa Simplex Superficialis

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex Superficialis.

Pathways for Epidermolysis Bullosa Simplex Superficialis

GO Terms for Epidermolysis Bullosa Simplex Superficialis

Sources for Epidermolysis Bullosa Simplex Superficialis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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