DEB
MCID: EPD009
MIFTS: 56

Epidermolysis Bullosa Dystrophica (DEB) malady

Skin, Fetal categories

Summaries for Epidermolysis Bullosa Dystrophica

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa pruriginosa and squamous cell carcinoma, and has symptoms including syndactyly of fingers/interdigital palm, autosomal recessive inheritance and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Degradation of the extracellular matrix and Cell adhesion ECM remodeling. The compounds (4-aminophenyl)mercuric acetate and astacin have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and trachea.

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

GeneReviews summary for ebd

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
epidermolysis bullosa dystrophica:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermolysis bullosa dystrophica 8 19 43 21 49 31 61
dystrophic epidermolysis bullosa 8 19 43 20 22 21 49
deb 19 43 49
dermolytic epidermolysis bullosa 43 49
epidermolysis bullosa, dermolytic 43
epidermolysis bullosa, dystrophic 21
epidermolysis bullosa dystrophic 45


External Ids:

Disease Ontology8 DOID:4959
MeSH35 D016108
NCIt40 C84691
ICD10 via Orphanet26 Q81.2
SNOMED-CT via Orphanet58 254185007
ICD1025 Q81.2

Related Diseases for Epidermolysis Bullosa Dystrophica

Sources:
17GeneCards, 18GeneDecks
See all sources

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/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa pruriginosa31.4COL7A1
2squamous cell carcinoma31.1COL7A1, BMP1, MMP10, MMP1
3recessive dystrophic epidermolysis bullosa11.0
4severe generalized recessive dystrophic epidermolysis bullosa10.9
5recessive dystrophic epidermolysis bullosa, generalized, other10.7
6epidermolysis bullosa dystrophica, ad10.7
7amyloidosis10.6
8dominant dystrophic epidermolysis bullosa10.6
9epidermolysis bullosa, pretibial10.6
10centripetalis recessive dystrophic epidermolysis bullosa10.6
11junctional epidermolysis bullosa10.5
12ataxia10.5
13epidermolysis bullosa dystrophica, ar10.5
14epidermolysis bullosa dystrophica, autosomal recessive, modifier of10.5
15epidermolysis bullosa simplex10.4
16n syndrome10.4
17kindler syndrome10.4
18amyloidosis, secondary10.4
19dystrophic epidermolysis bullosa, nails only10.4
20acral dystrophic epidermolysis bullosa10.4
21argyria10.4
22limbal stem cell deficiency10.3
23pityriasis rosea10.3
24epidermolysis bullosa acquisita10.3
25hyperglobulinemic purpura10.3
26syndactyly10.3
27maxillary sinus squamous cell carcinoma10.3
28mikulicz disease10.3
29pelger-huet anomaly10.3
30large cell carcinoma10.3
31osteoporosis10.3
32b cell deficiency10.3
33generalized dominant dystrophic epidermolysis bullosa10.3
34transient bullous dermolysis of the newborn10.3
35esophageal squamous cell carcinoma10.3
36norwegian scabies10.3
37marfan syndrome10.3
38squamous cell papilloma10.3
39enamel caries10.3
40psoriatic arthritis10.3
41hypercalcemia10.3
42hidrocystoma10.3
43arthritis10.3
44autosomal recessive disease10.3
45basal cell carcinoma10.3
46dwarfism10.3
47char syndrome10.3
48amniotic band syndrome10.3
49aplasia cutis congenita10.3
50epidermolysis bullosa simplex, generalized10.3

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



Diseases related to epidermolysis bullosa dystrophica

Clinical Features for Epidermolysis Bullosa Dystrophica

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 52)
  • syndactyly of fingers/interdigital palm
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • constipation
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • autosomal dominant inheritance
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • anomalies of teeth and dentition
  • multiple caries
  • malabsorption/chronic diarrhea/steatorrhea
  • renal failure
  • nails anomalies
  • cardiomyopathy/hypertrophic/dilated
  • anaemia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • corneal ulceration/perforation
  • heart/cardiac failure
  • oral mucosa disease/cheilitis
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • gangrena/necrosis
  • irregular/patchy skin hypopigmentation
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • anus/rectum anomalies
  • abnormal scarring/cheloids/hypertrophic scars
  • transient cerebral ischemia/stroke
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • neoplasms/tumors
  • defect/anomaly of lacrimal system
  • skin hypoplasia/aplasia/atrophy
  • absent/small fingernails/anonychia of hands
  • enamel anomaly
  • claw hand/retracted fingers
  • anomalies of hands
  • foot anomalies
  • eczema
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • syndactyly of toes
  • fissured/scrotal tongue
  • blepharitis/eyelid inflammation
  • ectropion/entropion/eyelid eversion
  • dysplastic/thick/grooved fingernails
  • claw toes/retracted toes
  • dysplastic/thick/grooved toenails
  • severe allergic reaction/atopy
  • phimosis/preputial adhesions/paraphimosis
  • ureteral stenosis/narrowing
  • larynx/laryngeal stenosis/atresia

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermolysis Bullosa Dystrophica

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Dystrophica

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Search CenterWatch for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Epidermolysis Bullosa Dystrophica:

id Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa20 22 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

33
Skin, Colon, Trachea

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Epidermolysis Bullosa Dystrophica

Sources:
51PubMed
See all sources

Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Oral manifestations and challenges in dental treatment of epidermolysis bullosa dystrophica. (24011299)
2013
2
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108434)
2010
3
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
4
Laryngeal stenosis in epidermolysis bullosa dystrophica. (18479854)
2009
5
Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. (17373986)
2007
6
Death from colonic disease in epidermolysis bullosa dystrophica. (16480504)
2006
7
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. (12140654)
2002
8
Anesthetic implications in epidermolysis bullosa dystrophica. (11759144)
2001
9
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. (8204486)
1994
10
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. (8426919)
1993
11
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia. (1353052)
1992
12
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. (2704658)
1989
13
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. (3369444)
1988
14
Regional anesthesia in children with epidermolysis bullosa dystrophica. (3345006)
1988
15
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. (3422608)
1988
16
Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva. (2436409)
1987
17
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. (3018087)
1986
18
Blistering eruption in healthy newborns. Case 3. Epidermolysis bullosa dystrophica. (3947131)
1986
19
Is there any specificity to defects of anchoring fibrils in epidermolysis bullosa dystrophica, and what does this mean in terms of pathogenesis? (3889167)
1985
20
Epidermolysis bullosa dystrophica with urinary tract involvement. (6726589)
1984
21
Epidermolysis bullosa dystrophica triggered by sun exposure. (6340588)
1983
22
Epidermolysis bullosa dystrophica. (6638465)
1983
23
Esophageal involvement in epidermolysis bullosa dystrophica. (6606328)
1983
24
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
25
Airway management during anesthesia in patients with epidermolysis bullosa dystrophica. (7065445)
1982
26
Clinical manifestations of epidermolysis bullosa dystrophica. (7307864)
1981
27
Acquired double-barrel oesophagus in epidermolysis bullosa dystrophica. (7434305)
1980
28
Surgical correction of the hand in epidermolysis bullosa dystrophica. (385461)
1979
29
Pityriasis rosea in a patient with epidermolysis bullosa dystrophica. (479433)
1979
30
A study of the linkage relations of epidermolysis bullosa dystrophica. (478556)
1979
31
Epidermolysis bullosa dystrophica: abnormal numbers of lysosomes in cultured fibroblasts. (117234)
1978
32
Urinary acid glycosaminoglycan in epidermolysis bullosa dystrophica (recessive type). (635894)
1978
33
Comparative electron microscopic study between Mendes da Costa's disease and recessive epidermolysis bullosa dystrophica. (656326)
1978
34
Letter: Esophageal epidermolysis bullosa dystrophica? (803809)
1975
35
Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis. (1151111)
1975
36
The defects of cementum in epidermolysis bullosa dystrophica. (4522479)
1973
37
Anesthetic and dental management of a child with epidermolysis bullosa dystrophica. (4518030)
1973
38
Epidermolysis bullosa dystrophica et albo-papuloidea. Report of a case and histochemical study. (4126804)
1973
39
Autografting in the treatment of squamous cell carcinoma in epidermolysis bullosa dystrophica. Case report. (4550075)
1972
40
Epidermolysis bullosa dystrophica. (5026204)
1972
41
Epidermolysis bullosa dystrophica--anesthetic management. (5001417)
1971
42
Anesthetic management of a patient with epidermolysis bullosa dystrophica. (5547650)
1971
43
Epidermolysis bullosa dystrophica. (4375515)
1971
44
The oral aspects of epidermolysis bullosa dystrophica: a case report. (5257245)
1969
45
Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. (4305996)
1969
46
EPIDERMOLYSIS BULLOSA DYSTROPHICA: REPORT OF A CASE. (14262732)
1964
47
EPIDERMOLYSIS BULLOSA. WITH A CASE REPORT ON EPIDERMOLYSIS BULLOSA DYSTROPHICA IN ONE OF A PAIR OF TWINS. (14147902)
1964
48
Epidermolysis bullosa dystrophica ulcerovegetans]. (13021719)
1952
49
Epidermolysis bullosa dystrophica. (14837511)
1951
50
Epidermolysis bullosa dystrophica. (18229191)
1949

Genetic Variations for Epidermolysis Bullosa Dystrophica

Expression for genes affiliated with Epidermolysis Bullosa Dystrophica

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa Dystrophica

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

Pathways for genes affiliated with Epidermolysis Bullosa Dystrophica

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN
See all sources

Compounds for genes affiliated with Epidermolysis Bullosa Dystrophica

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(4-aminophenyl)mercuric acetate459.9MMP1, MMP10
2astacin459.8MMP1, BMP1
3uk 383367609.8MMP10, MMP1
4gi 254023x609.8MMP10, MMP1
5gm 6001609.8MMP10, MMP1
6hydroxamate459.6MMP1, BMP1
7procollagen459.6MMP1, BMP1
8marimastat45 60 1111.6MMP10, MMP1
9batimastat45 60 1111.4MMP1, MMP10

GO Terms for genes affiliated with Epidermolysis Bullosa Dystrophica

Sources:
16Gene Ontology
See all sources

Cellular components related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.2MMP1, MMP10, BMP1
2basement membraneGO:0056048.7ERBB2IP, FREM1, COL7A1

Biological processes related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:0305749.2MMP10, MMP1, COL7A1
2proteolysisGO:0065089.2BMP1, MMP10, MMP1
3extracellular matrix disassemblyGO:0226179.0COL7A1, MMP10, MMP1
4extracellular matrix organizationGO:0301988.9MMP1, COL7A1, BMP1, MMP10

Molecular functions related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042229.2MMP1, MMP10, BMP1

Products for genes affiliated with Epidermolysis Bullosa Dystrophica

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Epidermolysis Bullosa Dystrophica

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet