DEB
MCID: EPD009
MIFTS: 57

Epidermolysis Bullosa Dystrophica (DEB) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Eye diseases categories
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Summaries for Epidermolysis Bullosa Dystrophica

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 and severe generalized recessive dystrophic epidermolysis bullosa, and has symptoms including anus/rectum anomalies, malabsorption/chronic diarrhea/steatorrhea and interstitial/restrictive pneumopathy/restrictive respiratory syndrome. 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, tongue and heart, 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:65 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

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 31LifeMap Discoveryâ„¢, 62UMLS, 20GeneTests, 22GTR, 45Novoseek, 58SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 25ICD10
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Classifications:



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 62
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 Orphanet59 254185007
ICD1025 Q81.2

Related Diseases for Epidermolysis Bullosa Dystrophica

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa11.4
2severe generalized recessive dystrophic epidermolysis bullosa10.9
3esophagitis10.8
4epidermolysis bullosa dystrophica, ar10.7
5amyloidosis10.7
6epidermolysis bullosa dystrophica, ad10.6
7generalized dominant dystrophic epidermolysis bullosa10.6
8cerebellar ataxia10.5
9transient bullous dermolysis of the newborn10.5
10ataxia10.5
11epidermolysis bullosa dystrophica, autosomal recessive, modifier of10.5
12epidermolysis bullosa simplex10.5
13glomerulonephritis10.5
14kindler syndrome10.5
15argyria10.5
16pityriasis rosea10.3
17pharyngitis10.3
18pelger-huet anomaly10.3
19epidermolysis bullosa acquisita10.3
20hyperglobulinemic purpura10.3
21syndactyly10.3
22colonic disease10.3
23dilated cardiomyopathy10.3
24laryngitis10.3
25osteoporosis10.3
26purpura10.3
27sarcoma10.3
28epidermolysis bullosa, pretibial10.3
29recessive dystrophic epidermolysis bullosa10.3
30dominant dystrophic epidermolysis bullosa10.3
31recessive dystrophic epidermolysis bullosa, generalized, other10.3
32transient bullous of the newborn10.3
33epidermolysis bullosa pruriginosa10.3
34dystrophic epidermolysis bullosa, nails only10.3
35acral dystrophic epidermolysis bullosa10.3
36centripetalis recessive dystrophic epidermolysis bullosa10.3
37x-linked ichthyosis10.3
38iga glomerulonephritis10.3
39hypercalcemia10.3
40junctional epidermolysis bullosa10.3
41psoriatic arthritis10.3
42hidrocystoma10.3
43down syndrome10.3
44norwegian scabies10.3
45marfan syndrome10.3
46arthritis10.3
47basal cell carcinoma10.3
48breast cancer10.3
49cataract10.3
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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49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discoveryâ„¢, 62UMLS, 41NDF-RT
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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
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

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20GeneTests, 22GTR
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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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31LifeMap Discoveryâ„¢, 33MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

33
Skin, Tongue, Heart, Trachea, Colon

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

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37MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa Dystrophica:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1COL7A1, MMP10

Publications for Epidermolysis Bullosa Dystrophica

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52PubMed
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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
Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens. (22520719)
2013
3
Severe osteoporosis treated with teriparatide in a patient affected by recessive epidermolysis bullosa dystrophica. (20458569)
2011
4
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
5
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. (20164760)
2010
6
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694004)
2009
7
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
8
Death from colonic disease in epidermolysis bullosa dystrophica. (16480504)
2006
9
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. (12140654)
2002
10
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. (10969376)
2000
11
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. (8864399)
1996
12
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. (8204486)
1994
13
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. (8503396)
1993
14
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. (1559352)
1992
15
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. (2288902)
1990
16
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
17
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. (2704658)
1989
18
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. (3369444)
1988
19
Regional anesthesia in children with epidermolysis bullosa dystrophica. (3345006)
1988
20
Anaesthetic management in patients with epidermolysis bullosa dystrophica. (3407874)
1988
21
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. (3377888)
1988
22
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? (3621647)
1987
23
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. (3018087)
1986
24
Behavior of the fibroblasts in recessive epidermolysis bullosa dystrophica within a collagen lattice. (4051561)
1985
25
Management of squamous cell carcinoma in a patient with dominant-type epidermolysis bullosa dystrophica: a surgical challenge. (3983281)
1985
26
Effects of increased concentrations of prostaglandin E levels with epidermolysis bullosa dystrophica recessive fibroblasts within a populated collagen lattice. (6580349)
1983
27
Epidermolysis bullosa dystrophica triggered by sun exposure. (6340588)
1983
28
Epidermolysis bullosa dystrophica recessive fibroblasts altered behavior within a collagen matrix. (6848609)
1983
29
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
30
Airway management during anesthesia in patients with epidermolysis bullosa dystrophica. (7065445)
1982
31
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. (6118526)
1981
32
Epidermolysis bullosa dystrophica. (7468980)
1981
33
Anaesthesia for correction of oesophageal stricture in a patient with recessive epidermolysis bullosa dystrophica: case report. (7363146)
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
Letter: Esophageal epidermolysis bullosa dystrophica? (803809)
1975
38
Epidermolysis bullosa dystrophica. (1236552)
1975
39
Squamous cell carcinoma in Epidermolysis bullosa dystrophica. (1205353)
1975
40
Epidermolysis bullosa dystrophica (dermolytic bullous dermatosis). (4449869)
1974
41
Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. A clinico-genetic study of 56 living individuals. (4120809)
1973
42
Autografting in the treatment of squamous cell carcinoma in epidermolysis bullosa dystrophica. Case report. (4550075)
1972
43
Epidermolysis bullosa dystrophica. (5026204)
1972
44
Epidermolysis bullosa dystrophica--anesthetic management. (5001417)
1971
45
Anesthetic management of a patient with epidermolysis bullosa dystrophica. (5547650)
1971
46
Skin homografts in epidermolysis bullosa dystrophica. Case report. (4914409)
1970
47
The oral aspects of epidermolysis bullosa dystrophica: a case report. (5257245)
1969
48
EPIDERMOLYSIS BULLOSA DYSTROPHICA: REPORT OF A CASE. (14262732)
1964
49
A case of dystrophic dentition in epidermolysis bullosa dystrophica. (13944469)
1963
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 53QIAGEN, 55Reactome
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Pathways related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

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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45Novoseek
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Compounds related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine459.1COL7A1, MMP10

GO Terms for genes affiliated with Epidermolysis Bullosa Dystrophica

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16Gene Ontology
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Cellular components related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1COL7A1, MMP10
2extracellular spaceGO:0056158.8COL7A1, MMP10

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.1COL7A1, MMP10
2collagen catabolic processGO:0305749.0COL7A1, MMP10
3extracellular matrix disassemblyGO:0226178.8COL7A1, MMP10

Products for genes affiliated with Epidermolysis Bullosa Dystrophica

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermolysis Bullosa Dystrophica

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet