DEB
MCID: EPD009
MIFTS: 61

Epidermolysis Bullosa Dystrophica (DEB) malady

Skin diseases, Fetal diseases categories

Summaries for Epidermolysis Bullosa Dystrophica

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 squamous cell carcinoma, and has symptoms including claw hand/retracted fingers, anomalies of hands and foot anomalies. 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, heart and tongue.

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 48 30 60
dystrophic epidermolysis bullosa 8 19 42 20 22 21 48
deb 19 42 48
dermolytic epidermolysis bullosa 42 48
epidermolysis bullosa, dermolytic 42
epidermolysis bullosa, dystrophic 21
epidermolysis bullosa dystrophic 44


External Ids:

Disease Ontology8 DOID:4959
MeSH34 D016108
NCIt39 C84691
ICD10 via Orphanet26 Q81.2
SNOMED-CT via Orphanet57 254185007
ICD1025 Q81.2

Related Diseases for Epidermolysis Bullosa Dystrophica

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Sources:
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 74)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.0COL7A1
2squamous cell carcinoma31.1COL7A1, BMP1, MMP10, MMP1
3epidermolysis bullosa pruriginosa30.4COL7A1
4severe generalized recessive dystrophic epidermolysis bullosa10.8
5esophagitis10.8
6amyloidosis10.6
7epidermolysis bullosa dystrophica, ad10.6
8epidermolysis bullosa dystrophica, ar10.6
9junctional epidermolysis bullosa10.6
10cerebellar ataxia10.4
11epidermolysis bullosa dystrophica, autosomal recessive, modifier of10.4
12epidermolysis bullosa simplex10.4
13collagen disease10.4
14glomerulonephritis10.4
15limbal stem cell deficiency10.3
16pityriasis rosea10.3
17epidermolysis bullosa acquisita10.3
18hyperglobulinemic purpura10.3
19syndactyly10.3
20pharyngitis10.3
21maxillary sinus squamous cell carcinoma10.3
22pelger-huet anomaly10.3
23large cell carcinoma10.3
24osteoporosis10.3
25colonic disease10.3
26dilated cardiomyopathy10.3
27laryngitis10.3
28purpura10.3
29sarcoma10.3
30generalized dominant dystrophic epidermolysis bullosa10.3
31transient bullous dermolysis of the newborn10.3
32epidermolysis bullosa, pretibial10.3
33recessive dystrophic epidermolysis bullosa10.3
34dominant dystrophic epidermolysis bullosa10.3
35recessive dystrophic epidermolysis bullosa, generalized, other10.3
36transient bullous of the newborn10.3
37dystrophic epidermolysis bullosa, nails only10.3
38acral dystrophic epidermolysis bullosa10.3
39centripetalis recessive dystrophic epidermolysis bullosa10.3
40chronic ulcer of skin10.3
41norwegian scabies10.3
42marfan syndrome10.3
43iga glomerulonephritis10.3
44x-linked ichthyosis10.3
45enamel caries10.3
46psoriatic arthritis10.3
47hypercalcemia10.3
48down syndrome10.3
49hidrocystoma10.3
50arthritis10.3

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



Diseases related to epidermolysis bullosa dystrophica

Clinical Features for Epidermolysis Bullosa Dystrophica

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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

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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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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

32
Skin, Heart, Tongue, 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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Publications for Epidermolysis Bullosa Dystrophica

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50PubMed
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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
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108398)
2010
4
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694004)
2009
5
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
6
Laryngeal stenosis in epidermolysis bullosa dystrophica. (18479854)
2009
7
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694003)
2009
8
Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. (17373986)
2007
9
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. (8204486)
1994
10
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
11
Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica. (1952992)
1991
12
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. (3369444)
1988
13
Regional anesthesia in children with epidermolysis bullosa dystrophica. (3345006)
1988
14
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. (3422608)
1988
15
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. (3018087)
1986
16
Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type. (4028498)
1985
17
Epidermolysis bullosa dystrophica recessive fibroblasts altered behavior within a collagen matrix. (6848609)
1983
18
Esophageal involvement in epidermolysis bullosa dystrophica. (6606328)
1983
19
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
20
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. (6118526)
1981
21
Epidermolysis bullosa dystrophica. (7468980)
1981
22
Clinical manifestations of epidermolysis bullosa dystrophica. (7307864)
1981
23
Squamous cell carcinoma in dominant type epidermolysis bullosa dystrophica. (7226010)
1981
24
Anaesthesia for correction of oesophageal stricture in a patient with recessive epidermolysis bullosa dystrophica: case report. (7363146)
1980
25
A study of the linkage relations of epidermolysis bullosa dystrophica. (478556)
1979
26
Comparative electron microscopic study between Mendes da Costa's disease and recessive epidermolysis bullosa dystrophica. (656326)
1978
27
Anesthetic management of emergency cesarean section in a patient with epidermolysis bullosa dystrophica polydysplastica. (565172)
1978
28
Squamous cell carcinoma in Epidermolysis bullosa dystrophica. (1205353)
1975
29
Anesthetic management of a patient with recessive epidermolysis bullosa dystrophica. (1147300)
1975
30
Epidermolysis bullosa dystrophica (dermolytic bullous dermatosis). (4449869)
1974
31
Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. A clinico-genetic study of 56 living individuals. (4120809)
1973
32
The defects of cementum in epidermolysis bullosa dystrophica. (4522479)
1973
33
Anesthetic and dental management of a child with epidermolysis bullosa dystrophica. (4518030)
1973
34
Epidermolysis bullosa dystrophica et albo-papuloidea. Report of a case and histochemical study. (4126804)
1973
35
Epidermolysis bullosa dystrophica et albo-papuloidea pasini in an Indian. A case report. (4754229)
1973
36
Autografting in the treatment of squamous cell carcinoma in epidermolysis bullosa dystrophica. Case report. (4550075)
1972
37
Epidermolysis bullosa dystrophica. (5026204)
1972
38
Epidermolysis bullosa dystrophica--anesthetic management. (5001417)
1971
39
The oral aspects of epidermolysis bullosa dystrophica: a case report. (5257245)
1969
40
Epidermolysis bullosa dystrophica in children. Radiologic manifestations. (5635122)
1968
41
Epidermolysis bullosa dystrophica, hypoplastic type, associated with Pelger-Huet anomaly. (6082912)
1967
42
EPIDERMOLYSIS BULLOSA DYSTROPHICA: REPORT OF A CASE. (14262732)
1964
43
TREATMENT OF EPIDERMOLYSIS BULLOSA DYSTROPHICA BY ALPHA TOCOPHEROL. (14155127)
1964
44
Benign hyperglobulinemic purpura. Relation to Mikulicz's disease, sicca syndrome, and epidermolysis bullosa dystrophica. (13706742)
1961
45
Epidermolysis bullosa dystrophica with severe deformity of hands and pharyngeal stenosis, relieved by cortisone. (13773381)
1961
46
Epidermolysis bullosa dystrophica. (14837511)
1951
47
Epidermolysis bullosa dystrophica. (18229191)
1949
48
Epidermolysis bullosa dystrophica with albo-papuloid dystrophy of Pasini. (18208053)
1948
49
Epidermolysis Bullosa Dystrophica. (19990950)
1937
50
Essential Shrinkage of the Conjunctiva in a Case of Probable Epidermolysis Bullosa Dystrophica. (16693025)
1934

Genetic Variations for Epidermolysis Bullosa Dystrophica

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Expression for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources:
1BioGPS, 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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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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Compounds for genes affiliated with Epidermolysis Bullosa Dystrophica

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44Novoseek, 59Tocris Bioscience, 11DrugBank
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Compounds related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(4-aminophenyl)mercuric acetate449.9MMP1, MMP10
2astacin449.8MMP1, BMP1
3uk 383367599.8MMP10, MMP1
4gi 254023x599.8MMP10, MMP1
5gm 6001599.8MMP10, MMP1
6hydroxamate449.6MMP1, BMP1
7procollagen449.6MMP1, BMP1
8marimastat44 59 1111.6MMP10, MMP1
9batimastat44 59 1111.4MMP1, 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
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

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Epidermolysis Bullosa Dystrophica

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet