EBSMCE
MCID: EPD035
MIFTS: 23

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 39
Epidermolysis Bullosa Simplex, with Migratory Circinate Erythema 72
Epidermolysis Bullosa Simplex with Circinate Migratory Erythema 58
Ebs with Circinate Migratory Erythema 58
Epidermolysis Bullosa Simplex-Mcr 57
Ebs-Migr 58
Ebsmce 72

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex with circinate migratory erythema
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 609352
MeSH 44 D016110
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C1836284
Orphanet 58 ORPHA158681
MedGen 41 C1836284

Summaries for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are skin vesicle and erythema

More information 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 10.6
2 epidermolysis bullosa simplex 10.6
3 epidermolysis bullosa simplex, dowling-meara type 10.4
4 epidermolysis bullosa simplex, localized 10.4
5 epidermolysis bullosa simplex with mottled pigmentation 10.4

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:



Diseases related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin vesicle 58 31 hallmark (90%) Frequent (79-30%) HP:0200037
2 erythema 31 hallmark (90%) HP:0010783
3 skin rash 31 hallmark (90%) HP:0000988
4 abnormality of skin pigmentation 31 hallmark (90%) HP:0001000
5 abnormality of the eye 58 Excluded (0%)
6 generalized hypopigmentation 58 Frequent (79-30%)
7 abnormality of the neck 58 Occasional (29-5%)
8 pruritus 58 Frequent (79-30%)
9 abnormal blistering of the skin 58 Frequent (79-30%)
10 nail dystrophy 58 Excluded (0%)
11 palmoplantar hyperkeratosis 58 Excluded (0%)
12 abnormality of the knee 58 Occasional (29-5%)
13 oral mucosal blisters 58 Excluded (0%)
14 hyperpigmentation of the skin 58 Frequent (79-30%)
15 spotty hyperpigmentation 58 Frequent (79-30%)
16 pretibial blistering 58 Occasional (29-5%)
17 generalized reticulate brown pigmentation 58 Occasional (29-5%)
18 junctional split 58 Frequent (79-30%)
19 skin fragility with non-scarring blistering 58 Frequent (79-30%)
20 acral blistering 58 Frequent (79-30%)
21 parakeratosis 58 Frequent (79-30%)
22 erythema migrans 58 Frequent (79-30%)

Clinical features from OMIM®:

609352 (Updated 20-May-2021)

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:

40
Eye

Publications for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Articles related to Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:

# Title Authors PMID 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. 6 57 61
12925204 2003
2
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. 6 57
15324323 2004
3
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema. 61
31965605 2020
4
T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients. 61
24104543 2014
5
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. 61
16417221 2006

Variations for Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) Deletion Pathogenic 14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
2 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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