PR-DEB
MCID: EPD072
MIFTS: 26

Epidermolysis Bullosa Dystrophica, Pretibial (PR-DEB)

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica, Pretibial

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica, Pretibial:

Name: Epidermolysis Bullosa Dystrophica, Pretibial 58
Epidermolysis Bullosa, Pretibial 58 13 56 41 74
Pretibial Epidermolysis Bullosa 54 30 6
Pretibial Dystrophic Epidermolysis Bullosa 54 60
Pretibial Deb 54 60
Deb-Pt 54 60
Epidermolysis Bullosa Dystrophica, Pretibial Type 76
Dystrophic Epidermolysis Bullosa, Pretibial 58
Deb, Pretibial 58
Pr-Deb 76

Characteristics:

Orphanet epidemiological data:

60
pretibial dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
epidermolysis bullosa dystrophica, pretibial:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 131850
MeSH 45 D016108
ICD10 via Orphanet 35 Q81.2
UMLS via Orphanet 75 C0432321
Orphanet 60 ORPHA79410
MedGen 43 C0432321
UMLS 74 C0432321

Summaries for Epidermolysis Bullosa Dystrophica, Pretibial

NIH Rare Diseases : 54 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 dystrophica, 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 dystrophic toenail and dystrophic fingernails

UniProtKB/Swiss-Prot : 76 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 nephropathy with pretibial epidermolysis bullosa and deafness 12.9
2 epidermolysis bullosa dystrophica 10.6
3 epidermolysis bullosa 10.6
4 recessive dystrophic epidermolysis bullosa 10.5
5 amyloidosis 10.3
6 beta-thalassemia 10.2
7 alport syndrome 10.2
8 thalassemia 10.2
9 hypothyroidism 10.2
10 angiokeratoma 10.2
11 lichen planus 10.2

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Dystrophica, Pretibial:



Diseases related to Epidermolysis Bullosa Dystrophica, Pretibial

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica, Pretibial

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Pretibial:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
2 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
3 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
4 atypical scarring of skin 60 33 frequent (33%) Frequent (79-30%) HP:0000987
5 milia 60 33 frequent (33%) Frequent (79-30%) HP:0001056
6 hyperkeratosis 33 HP:0000962
7 nail dystrophy 33 HP:0008404
8 abnormality of the skin 33 HP:0000951
9 pretibial blistering 33 HP:0012221

Symptoms via clinical synopsis from OMIM:

58
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

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 30 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica, Pretibial

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

42
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
2
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. ( 8541842 )
1995

Variations for Epidermolysis Bullosa Dystrophica, Pretibial

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

76
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly2623Cys VAR_001832 rs121912831

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica, Pretibial:

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

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

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