MCID: EPD072
MIFTS: 25

Epidermolysis Bullosa Dystrophica, Pretibial

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Epidermolysis Bullosa Dystrophica, Pretibial

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica, Pretibial:

Name: Epidermolysis Bullosa Dystrophica, Pretibial 57
Epidermolysis Bullosa, Pretibial 57 13 55 40 73
Pretibial Epidermolysis Bullosa 53 29 6
Pretibial Dystrophic Epidermolysis Bullosa 53 59
Pretibial Deb 53 59
Deb-Pt 53 59
Epidermolysis Bullosa Dystrophica, Pretibial Type 75
Dystrophic Epidermolysis Bullosa, Pretibial 57
Deb, Pretibial 57
Pr-Deb 75

Characteristics:

Orphanet epidemiological data:

59
pretibial dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
intrafamilial variability
blisters are precipitated by minor skin trauma
onset in late childhood (after age 10 years)
both autosomal dominant and recessive inheritance can occur
allelic disorder to dominant epidermolysis bullosa (ddeb, )


HPO:

32
epidermolysis bullosa dystrophica, pretibial:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 131850
Orphanet 59 ORPHA79410
UMLS via Orphanet 74 C0432321
ICD10 via Orphanet 34 Q81.2
MedGen 42 C0432321
MeSH 44 D016108
UMLS 73 C0432321

Summaries for Epidermolysis Bullosa Dystrophica, Pretibial

NIH Rare Diseases : 53 Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the "pretibial region"). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring. Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Pretibial, also known as epidermolysis bullosa, pretibial, is related to nephropathy with pretibial epidermolysis bullosa and deafness and epidermolysis bullosa, and has symptoms including pruritus An important gene associated with Epidermolysis Bullosa Dystrophica, Pretibial is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are pruritus and atypical scarring of skin

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa dystrophica, pretibial type: A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant.

Description from OMIM: 131850

Related Diseases for Epidermolysis Bullosa Dystrophica, Pretibial

Diseases related to Epidermolysis Bullosa Dystrophica, Pretibial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephropathy with pretibial epidermolysis bullosa and deafness 12.7
2 epidermolysis bullosa 10.2
3 recessive dystrophic epidermolysis bullosa 10.2

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica, Pretibial

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperkeratosis
blistering, recurrent
albopapuloid lesions may occur
dystrophic epidermolysis bullosa (predominantly but not restricted to the pretibial area)
lichenoid lesions
more
Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
decreased number of anchoring fibrils at dermal-epidermal junction
hypotrophic anchoring fibrils
decreased staining for collagen vii

Skin Nails Hair Nails:
dystrophic nails


Clinical features from OMIM:

131850

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Pretibial:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
2 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
3 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
4 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
5 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
6 hyperkeratosis 32 HP:0000962
7 nail dystrophy 32 HP:0008404
8 abnormality of the skin 32 HP:0000951
9 pretibial blistering 32 HP:0012221

UMLS symptoms related to Epidermolysis Bullosa Dystrophica, Pretibial:


pruritus

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica, Pretibial

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Dystrophica, Pretibial

Genetic Tests for Epidermolysis Bullosa Dystrophica, Pretibial

Genetic tests related to Epidermolysis Bullosa Dystrophica, Pretibial:

# Genetic test Affiliating Genes
1 Pretibial Epidermolysis Bullosa 29 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica, Pretibial

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica, Pretibial:

41
Skin

Publications for Epidermolysis Bullosa Dystrophica, Pretibial

Articles related to Epidermolysis Bullosa Dystrophica, Pretibial:

# Title Authors Year
1
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. ( 29500833 )
2018

Variations for Epidermolysis Bullosa Dystrophica, Pretibial

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Dystrophica, Pretibial:

75
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly2623Cys VAR_001832 rs121912831

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica, Pretibial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.7867G> T (p.Gly2623Cys) single nucleotide variant Pathogenic rs121912831 GRCh37 Chromosome 3, 48605531: 48605531
2 COL7A1 NM_000094.3(COL7A1): c.7867G> T (p.Gly2623Cys) single nucleotide variant Pathogenic rs121912831 GRCh38 Chromosome 3, 48568098: 48568098

Expression for Epidermolysis Bullosa Dystrophica, Pretibial

Search GEO for disease gene expression data for Epidermolysis Bullosa Dystrophica, Pretibial.

Pathways for Epidermolysis Bullosa Dystrophica, Pretibial

GO Terms for Epidermolysis Bullosa Dystrophica, Pretibial

Sources for Epidermolysis Bullosa Dystrophica, Pretibial

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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