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 57 29 13 6 40
Epidermolysis Bullosa Simplex, with Migratory Circinate Erythema 75
Epidermolysis Bullosa Simplex with Circinate Migratory Erythema 59
Epidermolysis Bullosa Simplex-Mcr 57
Ebs-Migr 59
Ebsmce 75

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex with circinate migratory erythema
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 609352
Orphanet 59 ORPHA158681
ICD10 via Orphanet 34 Q81.0
UMLS via Orphanet 74 C1836284
MedGen 42 C1836284
MeSH 44 D016110

Summaries for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

UniProtKB/Swiss-Prot : 75 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 10.4
2 epidermolysis bullosa simplex 10.4

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Clinical features from OMIM:

609352

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

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
2 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
3 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
4 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037

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 29 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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

41
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 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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