B-DEB
MCID: EPD074
MIFTS: 14

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 58 76
Epidermolysis Bullosa Dystrophica, Bart Type 58 76
Ebd, Bart Type 58 13
Epidermolysis Bullosa, Congenital Localized Absence of Skin and Nail Deformity 41
B-Deb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
epidermolysis bullosa with congenital localized absence of skin and deformity of nails:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 132000
MeSH 45 D016108
MedGen 43 C0268371
SNOMED-CT via HPO 70 247427007 263681008 87065009

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

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are nail dystrophy and nail dysplasia

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 nail dysplasia 33 HP:0002164
3 congenital localized absence of skin 33 HP:0007383
4 fragile skin 33 HP:0001030

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.6007G> A (p.Gly2003Arg) single nucleotide variant Pathogenic rs121912832 GRCh37 Chromosome 3, 48612945: 48612945
2 COL7A1 NM_000094.3(COL7A1): c.6007G> A (p.Gly2003Arg) single nucleotide variant Pathogenic rs121912832 GRCh38 Chromosome 3, 48575512: 48575512
3 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
4 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930

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
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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