MCID: EPD069
MIFTS: 21

Epidermolysis Bullosa Simplex-Mcr

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex-Mcr

MalaCards integrated aliases for Epidermolysis Bullosa Simplex-Mcr:

Name: Epidermolysis Bullosa Simplex-Mcr 54
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 24 29 13
Epidermolysis Bullosa Simplex, with Migratory Circinate Erythema 71
Epidermolysis Bullosa Simplex with Circinate Migratory Erythema 56
Ebs-Migr 56
Ebsmce 71

Characteristics:

Orphanet epidemiological data:

56
epidermolysis bullosa simplex with circinate migratory erythema
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 609352
Orphanet 56 ORPHA158681
UMLS via Orphanet 70 C1836284
ICD10 via Orphanet 34 Q81.0
MedGen 40 C1836284
MeSH 42 D016110

Summaries for Epidermolysis Bullosa Simplex-Mcr

UniProtKB/Swiss-Prot : 71 Epidermolysis bullosa simplex, with migratory circinate erythema: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping.

MalaCards based summary : Epidermolysis Bullosa Simplex-Mcr, also known as epidermolysis bullosa simplex with migratory circinate erythema, is related to epidermolysis bullosa and epidermolysis bullosa simplex, and has symptoms including skin rash, erythema and abnormality of skin pigmentation. An important gene associated with Epidermolysis Bullosa Simplex-Mcr is KRT5 (Keratin 5). Affiliated tissues include skin.

Description from OMIM: 609352

Related Diseases for Epidermolysis Bullosa Simplex-Mcr

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

id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 10.2
2 epidermolysis bullosa simplex 10.2

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex-Mcr

Clinical features from OMIM:

609352

Human phenotypes related to Epidermolysis Bullosa Simplex-Mcr:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
2 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
3 abnormality of skin pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001000
4 skin vesicle 56 32 hallmark (90%) Very frequent (99-80%) HP:0200037

Drugs & Therapeutics for Epidermolysis Bullosa Simplex-Mcr

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex-Mcr

Genetic Tests for Epidermolysis Bullosa Simplex-Mcr

Genetic tests related to Epidermolysis Bullosa Simplex-Mcr:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 29 24 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex-Mcr

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex-Mcr:

39
Skin

Publications for Epidermolysis Bullosa Simplex-Mcr

Variations for Epidermolysis Bullosa Simplex-Mcr

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex-Mcr:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT5 NM_000424.3(KRT5): c.1649delG (p.Gly550Alafs) deletion Pathogenic rs61126080 GRCh37 Chromosome 12, 52908850: 52908850

Expression for Epidermolysis Bullosa Simplex-Mcr

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex-Mcr.

Pathways for Epidermolysis Bullosa Simplex-Mcr

GO Terms for Epidermolysis Bullosa Simplex-Mcr

Sources for Epidermolysis Bullosa Simplex-Mcr

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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