EBSMCE
MCID: EPD035
MIFTS: 20

Epidermolysis Bullosa Simplex with Migratory Circinate Erythema (EBSMCE)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

Name: Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 58 30 13 6 41
Epidermolysis Bullosa Simplex, with Migratory Circinate Erythema 76
Epidermolysis Bullosa Simplex with Circinate Migratory Erythema 60
Epidermolysis Bullosa Simplex-Mcr 58
Ebs-Migr 60
Ebsmce 76

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex with circinate migratory erythema
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 609352
MeSH 45 D016110
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C1836284
Orphanet 60 ORPHA158681
MedGen 43 C1836284

Summaries for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

UniProtKB/Swiss-Prot : 76 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 with Migratory Circinate Erythema, also known as epidermolysis bullosa simplex, with migratory circinate erythema, is related to epidermolysis bullosa and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa Simplex with Migratory Circinate Erythema is KRT5 (Keratin 5). Affiliated tissues include skin, and related phenotypes are erythema and skin rash

Description from OMIM: 609352

Related Diseases for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Diseases related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 10.5
2 epidermolysis bullosa simplex 10.5

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Human phenotypes related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
2 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
3 abnormality of skin pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001000
4 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037

Clinical features from OMIM:

609352

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Genetic Tests for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Genetic tests related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 30 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

42
Skin

Publications for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Articles related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

# Title Authors Year
1
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. ( 12925204 )
2003

Variations for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

6
# 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
2 KRT5 NM_000424.3(KRT5): c.1649delG (p.Gly550Alafs) deletion Pathogenic rs61126080 GRCh38 Chromosome 12, 52515066: 52515066

Expression for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema.

Pathways for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

GO Terms for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Sources for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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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