MCID: EPD009
MIFTS: 49

Epidermolysis Bullosa Dystrophica malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

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Epidermolysis Bullosa Dystrophica, Aliases & Descriptions:

Name: Epidermolysis Bullosa Dystrophica 30 9 19 41 21 60
Dystrophic Epidermolysis Bullosa 9 19 41 20 21
Epidermolysis Bullosa Dystrophic 43 22
Deb 19 41
 
Epidermolysis Bullosa, Dermolytic 41
Epidermolysis Bullosa, Dystrophic 21
Dermolytic Epidermolysis Bullosa 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


External Ids:

Disease Ontology9 DOID:4959
MeSH33 D016108
NCIt38 C84691
ICD1025 Q81.2

Summaries for Epidermolysis Bullosa Dystrophica

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NIH Rare Diseases:41 Dystrophic epidermolysis bullosa (deb) is one of the major forms of epidermolysis bullosa. the signs and symptoms of this condition vary widely among affected individuals. in mild cases, blistering may primarily affect the hands, feet, knees, and elbows. severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. researchers classify deb into three major types. although the types differ in severity, their features overlap significantly. all three types are caused by mutations in the col7a1 gene. the most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. a milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance. last updated: 4/22/2013

MalaCards based summary: Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to recessive dystrophic epidermolysis bullosa and epidermolysis bullosa, and has symptoms including abnormality of the fingernails, aplasia/hypoplasia of the skin and abnormal blistering of the skin. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. The compound serine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related mouse phenotype normal.

Genetics Home Reference:21 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.

Wikipedia:63 Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

GeneReviews summary for ebd

Related Diseases for Epidermolysis Bullosa Dystrophica

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Diseases in the Epidermolysis Bullosa Dystrophica family:

Epidermolysis Bullosa Dystrophica, Ad Epidermolysis Bullosa Dystrophica, Ar

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1recessive dystrophic epidermolysis bullosa11.6
2epidermolysis bullosa11.4
3dominant dystrophic epidermolysis bullosa11.2
4esophagitis10.8
5epidermolysis bullosa dystrophica, ad10.7
6epidermolysis bullosa dystrophica, ar10.7
7amyloidosis10.7
8generalized dominant dystrophic epidermolysis bullosa10.7
9epidermolysis bullosa, pretibial10.5
10transient bullous of the newborn10.5
11cerebellar ataxia10.5
12ataxia10.5
13kindler syndrome10.5
14glomerulonephritis10.5
15epidermolysis bullosa simplex10.5
16argyria10.5
17secondary amyloidosis10.5
18ectodermal dysplasia/skin fragility syndrome10.4
19pelger-huet anomaly10.4
20epidermolysis bullosa pruriginosa10.4
21osteoporosis10.4
22dilated cardiomyopathy10.4
23pityriasis rosea10.4
24pharyngitis10.4
25epidermolysis bullosa acquisita10.4
26hyperglobulinemic purpura10.4
27sclerocornea10.4
28cornea plana10.4
29colonic disease10.4
30laryngitis10.4
31purpura10.4
32sarcoma10.4
33syndactyly10.4
34severe generalized recessive dystrophic epidermolysis bullosa10.4
35recessive dystrophic epidermolysis bullosa, generalized, other10.4
36dystrophic epidermolysis bullosa, nails only10.4
37centripetalis recessive dystrophic epidermolysis bullosa10.4
38breast cancer10.3
39psoriatic arthritis10.3
40toenail dystrophy, isolated10.3
41arthritis10.3
42cataract10.3
43iga glomerulonephritis10.3
44hypercalcemia10.3
45junctional epidermolysis bullosa10.3
46hidrocystoma10.3
47down syndrome10.3
48norwegian scabies10.3
49basal cell carcinoma10.3
50dental caries10.3

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



Diseases related to epidermolysis bullosa dystrophica

Symptoms for Epidermolysis Bullosa Dystrophica

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HPO human phenotypes related to Epidermolysis Bullosa Dystrophica:

(show all 40)
id Description Frequency HPO Source Accession
1 abnormality of the fingernails hallmark (90%) HP:0001231
2 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
3 abnormal blistering of the skin hallmark (90%) HP:0008066
4 abnormality of the toenail hallmark (90%) HP:0008388
5 cheilitis hallmark (90%) HP:0100825
6 furrowed tongue typical (50%) HP:0000221
7 carious teeth typical (50%) HP:0000670
8 abnormality of dental enamel typical (50%) HP:0000682
9 hypopigmented skin patches typical (50%) HP:0001053
10 abnormality of the hand typical (50%) HP:0001155
11 abnormality of the larynx typical (50%) HP:0001600
12 toe syndactyly typical (50%) HP:0001770
13 anonychia typical (50%) HP:0001798
14 camptodactyly of toe typical (50%) HP:0001836
15 constipation typical (50%) HP:0002019
16 tracheoesophageal fistula typical (50%) HP:0002575
17 finger syndactyly typical (50%) HP:0006101
18 feeding difficulties in infancy typical (50%) HP:0008872
19 gangrene typical (50%) HP:0100758
20 skin ulcer typical (50%) HP:0200042
21 ureteral stenosis occasional (7.5%) HP:0000071
22 renal insufficiency occasional (7.5%) HP:0000083
23 nephrotic syndrome occasional (7.5%) HP:0000100
24 hearing impairment occasional (7.5%) HP:0000365
25 otitis media occasional (7.5%) HP:0000388
26 blepharitis occasional (7.5%) HP:0000498
27 lacrimation abnormality occasional (7.5%) HP:0000632
28 eczema occasional (7.5%) HP:0000964
29 atypical scarring of skin occasional (7.5%) HP:0000987
30 congestive heart failure occasional (7.5%) HP:0001635
31 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
32 anemia occasional (7.5%) HP:0001903
33 malabsorption occasional (7.5%) HP:0002024
34 restrictive lung disease occasional (7.5%) HP:0002091
35 cerebral ischemia occasional (7.5%) HP:0002637
36 neoplasm of the skin occasional (7.5%) HP:0008069
37 immunologic hypersensitivity occasional (7.5%) HP:0100326
38 abnormality of the preputium occasional (7.5%) HP:0100587
39 glomerulopathy occasional (7.5%) HP:0100820
40 corneal erosion occasional (7.5%) HP:0200020

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Dystrophica

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Epidermolysis Bullosa Dystrophica cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Epidermolysis Bullosa Dystrophica:
VAVELTA
Embryonic/Adult Cultured Cells Related to Epidermolysis Bullosa Dystrophica:
Human Dermal Fibroblasts, PMID: 20722660

Genetic Tests for Epidermolysis Bullosa Dystrophica

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Genetic tests related to Epidermolysis Bullosa Dystrophica:

id Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa20 22 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

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MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

31
Skin, Heart, Lung, Tongue, Colon, Trachea

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Epidermolysis Bullosa Dystrophica:
id TissueAnatomical CompartmentCell Relevance
1 DermisCranial DermisDermal Fibroblasts  
2 DermisVentral DermisDermal Fibroblasts  
3 DermisDorsal DermisDermal Fibroblasts  

Animal Models for Epidermolysis Bullosa Dystrophica or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Dystrophica:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1COL7A1, MMP10

Publications for Epidermolysis Bullosa Dystrophica

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Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. (23349175)
2013
2
Severe osteoporosis treated with teriparatide in a patient affected by recessive epidermolysis bullosa dystrophica. (20458569)
2011
3
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
4
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. (20164760)
2010
5
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694004)
2009
6
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
7
Death from colonic disease in epidermolysis bullosa dystrophica. (16480504)
2006
8
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. (12140654)
2002
9
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. (10969376)
2000
10
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. (8864399)
1996
11
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. (8204486)
1994
12
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. (8503396)
1993
13
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. (1559352)
1992
14
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. (2288902)
1990
15
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
16
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. (2704658)
1989
17
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. (3369444)
1988
18
Regional anesthesia in children with epidermolysis bullosa dystrophica. (3345006)
1988
19
Anaesthetic management in patients with epidermolysis bullosa dystrophica. (3407874)
1988
20
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. (3377888)
1988
21
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? (3621647)
1987
22
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. (3018087)
1986
23
Behavior of the fibroblasts in recessive epidermolysis bullosa dystrophica within a collagen lattice. (4051561)
1985
24
Management of squamous cell carcinoma in a patient with dominant-type epidermolysis bullosa dystrophica: a surgical challenge. (3983281)
1985
25
Effects of increased concentrations of prostaglandin E levels with epidermolysis bullosa dystrophica recessive fibroblasts within a populated collagen lattice. (6580349)
1983
26
Epidermolysis bullosa dystrophica triggered by sun exposure. (6340588)
1983
27
Epidermolysis bullosa dystrophica recessive fibroblasts altered behavior within a collagen matrix. (6848609)
1983
28
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
29
Airway management during anesthesia in patients with epidermolysis bullosa dystrophica. (7065445)
1982
30
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. (6118526)
1981
31
Epidermolysis bullosa dystrophica. (7468980)
1981
32
Anaesthesia for correction of oesophageal stricture in a patient with recessive epidermolysis bullosa dystrophica: case report. (7363146)
1980
33
Acquired double-barrel oesophagus in epidermolysis bullosa dystrophica. (7434305)
1980
34
Epidermolysis bullosa dystrophica: abnormal numbers of lysosomes in cultured fibroblasts. (117234)
1978
35
Urinary acid glycosaminoglycan in epidermolysis bullosa dystrophica (recessive type). (635894)
1978
36
Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery. (266679)
1977
37
Squamous cell carcinoma in Epidermolysis bullosa dystrophica. (1205353)
1975
38
Epidermolysis bullosa dystrophica (dermolytic bullous dermatosis). (4449869)
1974
39
Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. A clinico-genetic study of 56 living individuals. (4120809)
1973
40
Autografting in the treatment of squamous cell carcinoma in epidermolysis bullosa dystrophica. Case report. (4550075)
1972
41
Epidermolysis bullosa dystrophica. (5026204)
1972
42
Epidermolysis bullosa dystrophica--anesthetic management. (5001417)
1971
43
Anesthetic management of a patient with epidermolysis bullosa dystrophica. (5547650)
1971
44
Epidermolysis bullosa dystrophica. (4375515)
1971
45
Skin homografts in epidermolysis bullosa dystrophica. Case report. (4914409)
1970
46
The oral aspects of epidermolysis bullosa dystrophica: a case report. (5257245)
1969
47
EPIDERMOLYSIS BULLOSA DYSTROPHICA: REPORT OF A CASE. (14262732)
1964
48
A case of dystrophic dentition in epidermolysis bullosa dystrophica. (13944469)
1963
49
Epidermolysis bullosa dystrophica ulcerovegetans]. (13021719)
1952
50
Epidermolysis bullosa dystrophica with albo-papuloid dystrophy of Pasini. (18208053)
1948

Variations for Epidermolysis Bullosa Dystrophica

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Expression for genes affiliated with Epidermolysis Bullosa Dystrophica

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

Pathways for genes affiliated with Epidermolysis Bullosa Dystrophica

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Pathways related to Epidermolysis Bullosa Dystrophica according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1COL7A1, MMP10
2
Show member pathways
9.1COL7A1, MMP10

Compounds for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources:
43Novoseek
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Compounds related to Epidermolysis Bullosa Dystrophica according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1serine439.1COL7A1, MMP10

GO Terms for genes affiliated with Epidermolysis Bullosa Dystrophica

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Cellular components related to Epidermolysis Bullosa Dystrophica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055769.1COL7A1, MMP10
2extracellular spaceGO:00056158.8COL7A1, MMP10

Biological processes related to Epidermolysis Bullosa Dystrophica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.1COL7A1, MMP10
2collagen catabolic processGO:00305749.0COL7A1, MMP10
3extracellular matrix disassemblyGO:00226178.8COL7A1, MMP10

Products for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources for Epidermolysis Bullosa Dystrophica

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet