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 57 59 73
Ebss 57 59

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex superficialis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 607600
Orphanet 59 ORPHA89839
ICD10 via Orphanet 34 Q81.0
UMLS via Orphanet 74 C1843477
MedGen 42 C1843477
UMLS 73 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

Clinical features from OMIM:

607600

Human phenotypes related to Epidermolysis Bullosa Simplex Superficialis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
2 hypoplasia of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0006297
3 milia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001056
4 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
5 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030

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:

41
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 ExPASy
19 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 LOVD
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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