MCID: BSL047
MIFTS: 8

Basal Epidermolysis Bullosa Simplex

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Basal Epidermolysis Bullosa Simplex

MalaCards integrated aliases for Basal Epidermolysis Bullosa Simplex:

Name: Basal Epidermolysis Bullosa Simplex 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q81.0
Orphanet 58 ORPHA158665

Summaries for Basal Epidermolysis Bullosa Simplex

MalaCards based summary : Basal Epidermolysis Bullosa Simplex is related to epidermolysis bullosa simplex, generalized, with scarring and hair loss. Affiliated tissues include skin.

Related Diseases for Basal Epidermolysis Bullosa Simplex

Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 Basal Epidermolysis Bullosa Simplex

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

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.7

Symptoms & Phenotypes for Basal Epidermolysis Bullosa Simplex

Drugs & Therapeutics for Basal Epidermolysis Bullosa Simplex

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

Genetic Tests for Basal Epidermolysis Bullosa Simplex

Anatomical Context for Basal Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Basal Epidermolysis Bullosa Simplex:

40
Skin

Publications for Basal Epidermolysis Bullosa Simplex

Articles related to Basal Epidermolysis Bullosa Simplex:

# Title Authors PMID Year
1
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 61
21623745 2011
2
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 61
20199538 2010
3
Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. 61
7525738 1994

Variations for Basal Epidermolysis Bullosa Simplex

Expression for Basal Epidermolysis Bullosa Simplex

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

Pathways for Basal Epidermolysis Bullosa Simplex

GO Terms for Basal Epidermolysis Bullosa Simplex

Sources for Basal Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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