B-DEB
MCID: EPD074
MIFTS: 15

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 (showing 4, show less)
# 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...

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

(showing 2, show less)
# Title Authors Year
1
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. ( 8618021 )
1996
2
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. ( 5910871 )
1966

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 24, show less)
# 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.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
4 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
5 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
6 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930
7 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh37 Chromosome 3, 48628960: 48628960
8 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh38 Chromosome 3, 48591527: 48591527
9 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh38 Chromosome 3, 48590817: 48590817
10 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh37 Chromosome 3, 48628250: 48628250
11 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
12 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
13 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh37 Chromosome 3, 48608072: 48608072
14 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh38 Chromosome 3, 48570639: 48570639
15 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh37 Chromosome 3, 48612870: 48612870
16 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh38 Chromosome 3, 48575437: 48575437
17 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh37 Chromosome 3, 48613682: 48613682
18 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh38 Chromosome 3, 48576249: 48576249
19 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh37 Chromosome 3, 48630987: 48630987
20 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh38 Chromosome 3, 48593554: 48593554
21 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh37 Chromosome 3, 48627789: 48627789
22 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh38 Chromosome 3, 48590356: 48590356
23 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh37 Chromosome 3, 48622187: 48622187
24 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh38 Chromosome 3, 48584754: 48584754

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...

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