B-DEB
MCID: EPD074
MIFTS: 23

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 12 72 6
Epidermolysis Bullosa Dystrophica, Bart Type 57 12 72
Ebd, Bart Type 57 12 13
Epidermolysis Bullosa, Congenital Localized Absence of Skin and Nail Deformity 39
B-Deb 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
epidermolysis bullosa with congenital localized absence of skin and deformity of nails:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111347
OMIM® 57 132000
MeSH 44 D016108
MedGen 41 C0268371
SNOMED-CT via HPO 68 247427007 263681008 87065009

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

Disease Ontology : 12 An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has material basis in heterozygous mutation in COL7A1 on chromosome 3p21.31.

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, lung and liver, and related phenotypes are nail dysplasia and nail dystrophy

UniProtKB/Swiss-Prot : 72 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.

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:

31
# Description HPO Frequency HPO Source Accession
1 nail dysplasia 31 HP:0002164
2 nail dystrophy 31 HP:0008404
3 fragile skin 31 HP:0001030
4 congenital localized absence of skin 31 HP:0007383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
congenital localized absence of skin
skin fragility
dystrophic epidermolysis bullosa

Nails:
dystrophic nails

Clinical features from OMIM®:

132000 (Updated 05-Apr-2021)

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:

40
Skin, Lung, 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:

(show all 17)
# Title Authors PMID Year
1
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. 57 6
8618021 1996
2
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. 6 57
5910871 1966
3
Bart's syndrome. Ultrastructure and genetic linkage. 57
7778916 1995
4
Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. 57
1497364 1992
5
Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. 57
94215 1979
6
Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. A clinico-genetic study of 56 living individuals. 57
4120809 1973
7
Epidermolysis bullosa and congenital localized absence of skin. 57
5416799 1970
8
Efficacy and Safety of Drug-Eluting Beads Bronchial Arterial Chemoembolization in Treating Patients with Lung Cancer Who Were Complicated with Hemoptysis. 61
33052699 2020
9
[Differences in efficacy between drug-eluting beads transbronchial arterial chemoembolization combined with systemic chemotherapy and systemic chemotherapy alone for unresectable lung squamous cell carcinoma]. 61
32311881 2020
10
Drug-eluting beads transarterial chemoembolization with CalliSpheres microspheres for treatment of unresectable intrahepatic cholangiocarcinoma. 61
32489470 2020
11
Prospective Phase II trial of drug-eluting bead chemoembolization for liver transplant candidates with hepatocellular carcinoma and marginal hepatic reserve. 61
31355158 2019
12
Evaluation of dietary electrolyte balance on nursery pig performance. 61
32704808 2019
13
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. 61
30200330 2018
14
A multicenter phase I-II study of docetaxel plus epirubicin plus bevacizumab as first-line treatment in women with HER2-negative metastatic breast cancer. 61
24091128 2013
15
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. 61
22503057 2012
16
An erythromycin derivative produced by targeted gene disruption in Saccharopolyspora erythraea. 61
2011746 1991
17
Organization of a cluster of erythromycin genes in Saccharopolyspora erythraea. 61
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 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) SNV Pathogenic 17430 rs121912832 GRCh37: 3:48612945-48612945
GRCh38: 3:48575512-48575512
2 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
3 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
4 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
5 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
6 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
7 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) SNV Pathogenic 372330 rs144023803 GRCh37: 3:48628154-48628154
GRCh38: 3:48590721-48590721
8 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
9 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
10 COL7A1 NM_000094.4(COL7A1):c.5820G>A SNV Likely pathogenic 431810 rs200972872 GRCh37: 3:48613682-48613682
GRCh38: 3:48576249-48576249
11 COL7A1 NM_000094.4(COL7A1):c.1907G>T SNV Uncertain significance 502658 rs116005007 GRCh37: 3:48627789-48627789
GRCh38: 3:48590356-48590356
12 COL7A1 NM_000094.4(COL7A1):c.7068+5G>A SNV Uncertain significance 689753 rs779875751 GRCh37: 3:48609429-48609429
GRCh38: 3:48571996-48571996
13 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Uncertain significance 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428
14 COL7A1 NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) SNV not provided 156289 rs121912841 GRCh37: 3:48615930-48615930
GRCh38: 3:48578497-48578497

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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