B-DEB
MCID: EPD074
MIFTS: 20

Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails (B-DEB)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

MalaCards integrated aliases for Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails:

Name: Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 57 74
Epidermolysis Bullosa Dystrophica, Bart Type 57 74
Ebd, Bart Type 57 13
Epidermolysis Bullosa, Congenital Localized Absence of Skin and Nail Deformity 40
B-Deb 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
epidermolysis bullosa with congenital localized absence of skin and deformity of nails:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 132000
MeSH 44 D016108
MedGen 42 C0268371

Summaries for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

UniProtKB/Swiss-Prot : 74 Epidermolysis bullosa dystrophica, Bart type: An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.

MalaCards based summary : Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails, is also known as epidermolysis bullosa dystrophica, bart type. An important gene associated with Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, liver and breast, and related phenotypes are nail dystrophy and nail dysplasia

More information from OMIM: 132000

Related Diseases for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Symptoms & Phenotypes for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Human phenotypes related to Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails:

32 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 HP:0008404
2 nail dysplasia 32 HP:0002164
3 congenital localized absence of skin 32 HP:0007383
4 fragile skin 32 HP:0001030

Symptoms via clinical synopsis from OMIM:

57
Skin:
congenital localized absence of skin
skin fragility
dystrophic epidermolysis bullosa

Nails:
dystrophic nails

Clinical features from OMIM:

132000

Drugs & Therapeutics for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails

Genetic Tests for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Anatomical Context for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

MalaCards organs/tissues related to Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails:

41
Skin, Liver, Breast

Publications for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Articles related to Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails:

(showing 14, show less)
# Title Authors PMID Year
1
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. 8 71
8618021 1996
2
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. 8 71
5910871 1966
3
Dystrophic Epidermolysis Bullosa 71
20301481 2006
4
Bart's syndrome. Ultrastructure and genetic linkage. 8
7778916 1995
5
Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. 8
1497364 1992
6
Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. 8
94215 1979
7
Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. A clinico-genetic study of 56 living individuals. 8
4120809 1973
8
Epidermolysis bullosa and congenital localized absence of skin. 8
5416799 1970
9
Prospective Phase II trial of drug-eluting bead chemoembolization for liver transplant candidates with hepatocellular carcinoma and marginal hepatic reserve. 38
31355158 2019
10
Cytotoxic Desulfated Saponin from Holothuria atra Predicted to Have High Binding Affinity to the Oncogenic Kinase PAK1: A Combined In Vitro and In Silico Study. 38
30200330 2018
11
A multicenter phase I-II study of docetaxel plus epirubicin plus bevacizumab as first-line treatment in women with HER2-negative metastatic breast cancer. 38
24091128 2013
12
First results of the DEB-AMI (drug eluting balloon in acute ST-segment elevation myocardial infarction) trial: a multicenter randomized comparison of drug-eluting balloon plus bare-metal stent versus bare-metal stent versus drug-eluting stent in primary percutaneous coronary intervention with 6-month angiographic, intravascular, functional, and clinical outcomes. 38
22503057 2012
13
An erythromycin derivative produced by targeted gene disruption in Saccharopolyspora erythraea. 38
2011746 1991
14
Organization of a cluster of erythromycin genes in Saccharopolyspora erythraea. 38
2185216 1990

Variations for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

ClinVar genetic disease variations for Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails:

6 (showing 12, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 3:48628154-48628154 3:48590721-48590721
2 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 3:48608072-48608072 3:48570639-48570639
3 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 3:48612870-48612870 3:48575437-48575437
4 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 3:48622187-48622187 3:48584754-48584754
5 COL7A1 NM_000094.3(COL7A1): c.6007G> A (p.Gly2003Arg) single nucleotide variant Pathogenic rs121912832 3:48612945-48612945 3:48575512-48575512
6 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 3:48630971-48630971 3:48593538-48593538
7 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 3:48615930-48615930 3:48578497-48578497
8 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 3:48628960-48628960 3:48591527-48591527
9 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 3:48630987-48630987 3:48593554-48593554
10 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 3:48628250-48628250 3:48590817-48590817
11 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 3:48613682-48613682 3:48576249-48576249
12 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 3:48627789-48627789 3:48590356-48590356

Expression for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Search GEO for disease gene expression data for Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails.

Pathways for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

GO Terms for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

Sources for Epidermolysis Bullosa with Congenital Localized Absence of Skin...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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