PR-DEB
MCID: EPD072
MIFTS: 30

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 56
Epidermolysis Bullosa, Pretibial 56 13 54 39 71
Pretibial Epidermolysis Bullosa 52 29 6
Pretibial Dystrophic Epidermolysis Bullosa 52 58
Pretibial Deb 52 58
Deb-Pt 52 58
Epidermolysis Bullosa Dystrophica, Pretibial Type 73
Dystrophic Epidermolysis Bullosa, Pretibial 56
Deb, Pretibial 56
Pr-Deb 73

Characteristics:

Orphanet epidemiological data:

58
pretibial dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
epidermolysis bullosa dystrophica, pretibial:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 131850
MeSH 43 D016108
ICD10 via Orphanet 33 Q81.2
UMLS via Orphanet 72 C0432321
Orphanet 58 ORPHA79410
MedGen 41 C0432321
UMLS 71 C0432321

Summaries for Epidermolysis Bullosa Dystrophica, Pretibial

NIH Rare Diseases : 52 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 dystrophic toenail and dystrophic fingernails

UniProtKB/Swiss-Prot : 73 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.

More information 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 22)
# Related Disease Score Top Affiliating Genes
1 nephropathy with pretibial epidermolysis bullosa and deafness 13.1
2 epidermolysis bullosa 10.5
3 epidermolysis bullosa dystrophica 10.4
4 hypertrophic scars 10.4
5 epidermolysis bullosa dystrophica, autosomal recessive 10.3
6 recessive dystrophic epidermolysis bullosa 10.3
7 amyloidosis 10.3
8 lichen planus 10.3
9 lichen amyloidosis 10.3
10 48,xyyy 10.2
11 raph blood group system 10.2
12 beta-thalassemia 10.2
13 thalassemia 10.2
14 alport syndrome 10.2
15 hypothyroidism 10.2
16 keratosis 10.2
17 epidermolysis bullosa simplex 10.2
18 angiokeratoma 10.2
19 end stage renal failure 10.2
20 erythrokeratoderma ''en cocardes'' 10.2
21 prurigo nodularis 10.2
22 inherited epidermolysis bullosa 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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
2 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
3 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
4 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
5 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
6 hyperkeratosis 31 HP:0000962
7 nail dystrophy 31 HP:0008404
8 abnormality of the skin 31 HP:0000951
9 pretibial blistering 31 HP:0012221

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
hyperkeratosis
pruritis
blistering, recurrent
albopapuloid lesions may occur
dystrophic epidermolysis bullosa (predominantly but not restricted to the pretibial area)
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 29

Anatomical Context for Epidermolysis Bullosa Dystrophica, Pretibial

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

40
Skin

Publications for Epidermolysis Bullosa Dystrophica, Pretibial

Articles related to Epidermolysis Bullosa Dystrophica, Pretibial:

# Title Authors PMID Year
1
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. 54 56 6
8541842 1995
2
Dystrophic Epidermolysis Bullosa 6
20301481 2006
3
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. 56
12485454 2002
4
Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. 56
10583163 1999
5
Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. 56
7738360 1995
6
Pretibial epidermolysis bullosa: a clinicopathologic study. 56
8245264 1993
7
Pretibial epidermolysis bullosa: report of two families and review of the literature. 56
1158004 1975
8
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. 61
29500833 2018

Variations for Epidermolysis Bullosa Dystrophica, Pretibial

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica, Pretibial:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1):c.7867G>T (p.Gly2623Cys)SNV Pathogenic 17429 rs121912831 3:48605531-48605531 3:48568098-48568098
2 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg)SNV Pathogenic 29636 rs121912856 3:48630971-48630971 3:48593538-48593538
3 COL7A1 NM_000094.3(COL7A1):c.1573C>T (p.Arg525Ter)SNV Pathogenic 279785 rs368007918 3:48628960-48628960 3:48591527-48591527
4 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter)SNV Pathogenic 372330 rs144023803 3:48628154-48628154 3:48590721-48590721
5 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=)SNV Pathogenic 372349 rs201728948 3:48608072-48608072 3:48570639-48570639
6 COL7A1 NM_000094.3(COL7A1):c.6082G>A (p.Gly2028Arg)SNV Pathogenic 379476 rs762162799 3:48612870-48612870 3:48575437-48575437
7 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter)SNV Pathogenic 449472 rs1203706188 3:48630987-48630987 3:48593554-48593554
8 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter)SNV Pathogenic 503709 rs761234904 3:48622187-48622187 3:48584754-48584754
9 COL7A1 NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=)SNV Pathogenic/Likely pathogenic 431810 rs200972872 3:48613682-48613682 3:48576249-48576249
10 COL7A1 NM_000094.3(COL7A1):c.1637-1G>ASNV Pathogenic/Likely pathogenic 345869 rs886058642 3:48628250-48628250 3:48590817-48590817
11 COL7A1 NM_000094.3(COL7A1):c.8101G>T (p.Gly2701Trp)SNV Likely pathogenic 804362 3:48604569-48604569 3:48567136-48567136
12 COL7A1 NM_000094.3(COL7A1):c.1907G>T (p.Gly636Val)SNV Conflicting interpretations of pathogenicity 502658 rs116005007 3:48627789-48627789 3:48590356-48590356
13 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser)SNV Conflicting interpretations of pathogenicity 17446 rs121912838 3:48612861-48612861 3:48575428-48575428
14 COL7A1 NM_000094.3(COL7A1):c.7068+5G>ASNV Uncertain significance 689753 3:48609429-48609429 3:48571996-48571996
15 COL7A1 NM_000094.3(COL7A1):c.8234G>A (p.Arg2745Gln)SNV Uncertain significance 805756 rs377182638 3:48604163-48604163 3:48566730-48566730

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

73
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly2623Cys VAR_001832 rs121912831

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....