MCID: EPD074
MIFTS: 14

Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails

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 75
Epidermolysis Bullosa Dystrophica, Bart Type 57 75
Ebd, Bart Type 57 13
Epidermolysis Bullosa, Congenital Localized Absence of Skin and Nail Deformity 40
B-Deb 75

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
MedGen 42 C0268371
MeSH 44 D016108
SNOMED-CT via HPO 69 263681008 247427007 87065009

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

UniProtKB/Swiss-Prot : 75 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 fragile skin 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...

Symptoms via clinical synopsis from OMIM:

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

Nails:
dystrophic nails


Clinical features from OMIM:

132000

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

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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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