Epidermolysis Bullosa Dystrophica malady

Genetics Home Reference: 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.¹⁷

MalaCards: Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to recessive dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Activation of Matrix Metalloproteinases and Inhibition of Matrix Metalloproteinases. The drugs phenytoin sodium,prompt and phenytoin sodium extended and the compounds (4-aminophenyl)mercuric acetate and astacin have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia: Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and...⁴⁴ more...

GeneReviews summary for ebd

Aliases & Descriptions:

epidermolysis bullosa dystrophica 6 7 15 30 16 17 8 43 dystrophic epidermolysis bullosa 6 15 30 16 17 deb 15 30 dystrophic epidermolysis bullosa (disorder) 6 epidermolysis bullosa, dermolytic 30

epidermolysis bullosa, dystrophic 17 dermolytic epidermolysis bullosa 30 epidermolysis bullosa dystrophic 32 epidermolysis bullosa 43

Disease types for epidermolysis bullosa dystrophica family:

epidermolysis bullosa dystrophica, ad	epidermolysis bullosa dystrophica, ar

Diseases related to epidermolysis bullosa dystrophica by text searches and GeneDecks gene sharing:

(show top 50)    (show all 83)

id	Related Disease	Score	Top Affiliating Genes
1	recessive dystrophic epidermolysis bullosa	39.1	MMP1, COL7A1
2	epidermolysis bullosa pruriginosa	34.9	MMP1, COL7A1
3	squamous cell carcinoma	32.9	COL7A1, MMP10, MMP1, BMP1
4	epidermolysis bullosa	28.9	NHS, COL7A1, DR1, ERBB2IP, MMP10, MMP1
5	epidermolysis bullosa simplex	13.2
6	junctional epidermolysis bullosa	13.1
7	pyoderma gangrenosum	12.8	MMP1, MMP10
8	pyoderma	12.8	MMP10, MMP1
9	refractive error	12.8	MMP10, MMP1
10	keratoacanthoma	12.6	MMP1, MMP10
11	keratoconjunctivitis	12.6	MMP1, MMP10
12	vernal keratoconjunctivitis	12.5	MMP1, MMP10
13	gingival overgrowth	12.3	MMP1, MMP10
14	epidermolysis bullosa with pyloric atresia	11.4
15	epidermolysis bullosa acquisita	10.9
16	bullous pemphigoid	10.5
17	epidermolysis bullosa simplex with mottled pigmentation	10.5
18	carcinoma	10.1
19	muscular dystrophy	10.1
20	severe generalized recessive dystrophic epidermolysis bullosa	9.8
21	junctional epidermolysis bullosa, non-herlitz type	9.8
22	epidermolysis bullosa simplex, dowling-meara type	9.8
23	epidermolysis bullosa simplex, localized	9.8
24	muscular dystrophy with epidermolysis bullosa simplex	9.6
25	epidermolysis bullosa simplex, generalized	9.5
26	junctional epidermolysis bullosa, herlitz type	9.5
27	epidermolysis bullosa dystrophica, ad	9.3
28	epidermolysis bullosa dystrophica, ar	9.3
29	generalized dominant dystrophic epidermolysis bullosa	9.3
30	epidermolysis bullosa dystrophica, autosomal recessive, modifier of	9.3
31	epidermolysis bullosa simplex, ogna type	9.2
32	epidermolysis bullosa, lethal acantholytic	9.0
33	epidermolysis bullosa, pretibial	9.0
34	col17a1-related junctional epidermolysis bullosa	8.7
35	epidermolysis bullosa simplex with migratory circinate erythema	8.7
36	epidermolysis bullosa simplex, other generalized	8.7
37	lamc2-related junctional epidermolysis bullosa	8.4
38	epidermolysis bullosa of hands and feet	8.4
39	epidermolysis bullosa, late-onset localized junctional, with mental retardation	8.4
40	itgb4-related epidermolysis bullosa with pyloric atresia	8.4
41	junctional epidermolysis bullosa inversa	8.4
42	lama3-related junctional epidermolysis bullosa	8.4
43	lamb3-related junctional epidermolysis bullosa	8.4
44	epidermolysis bullosa simplex with pyloric atresia	8.1
45	epidermolysis bullosa simplex, recessive	8.1
46	epidermolysis bullosa, junctional, with pyloric stenosis	8.1
47	itga6-related epidermolysis bullosa with pyloric atresia	8.1
48	nephropathy with pretibial epidermolysis bullosa and deafness	8.1
49	plec1-related epidermolysis bullosa with pyloric atresia	8.1
50	peeling skin syndrome	8.1

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 phenytoin, phenytoin sodium, phenytoin sodium extended, phenytoin sodium,extended, phenytoin sodium,prompt

Cell-based therapeutics:

Genetic tests related to epidermolysis bullosa dystrophica:

id	Genetic test	Affiliating Genes
1	Epidermolysis Bullosa Dystrophica clinical/research	COL7A1

MalaCards organs/tissues related to epidermolysis bullosa dystrophica:

²²

Articles related to epidermolysis bullosa dystrophica:

id	Title	Authors	Year	Affiliating Genes
1	Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108428)	Garcia M.... del Rio M.	2010	COL7A1
2	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)	Colombi M.... Barlati S.	1992	MMP10

Genes related to epidermolysis bullosa dystrophica according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	COL7A1	collagen, type VII, alpha 1	11.1	Publications
2	MMP1	matrix metallopeptidase 1 (interstitial collagenase)	11.1
3	DR1	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	11.0
4	MMP10	matrix metallopeptidase 10 (stromelysin 2)	11.0	Publications
5	BMP1	bone morphogenetic protein 1	11.0
6	FREM1	FRAS1 related extracellular matrix 1	11.0	Disorders
7	ERBB2IP	erbb2 interacting protein	11.0
8	NHS	Nance-Horan syndrome (congenital cataracts and dental anomalies)	11.0

Pathways related to epidermolysis bullosa dystrophica according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Activation of Matrix Metalloproteinases38	9.8	MMP1, MMP10
2	Inhibition of Matrix Metalloproteinases36	9.8	MMP1, MMP10
3	Metalloproteases in connective tissue degradation10	9.6	MMP1, MMP10
4	Cell adhesion_ECM remodeling41	9.5	MMP10, MMP1
5	UPA-UPAR Pathway36	9.5	MMP1, MMP10, COL7A1
6	Cell adhesion ECM remodeling10	9.3	MMP10, MMP1
7	Transendothelial Migration of Leukocytes36	9.3	MMP1, MMP10, COL7A1
8	Pancreatic Adenocarcinoma36	9.2	MMP10, MMP1, BMP1

Compounds related to epidermolysis bullosa dystrophica according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	(4-aminophenyl)mercuric acetate32	9.8	MMP1, MMP10
2	astacin32	9.7	BMP1, MMP1
3	pd 16679342	9.7	MMP10, MMP1
4	ono 481742	9.6	MMP10, MMP1
5	batimastat32 42 9 9	12.6	MMP1, MMP10
6	hydroxamate32	9.5	BMP1, MMP1
7	marimastat32 42 9 9	12.3	MMP1, MMP10

Cellular components related to epidermolysis bullosa dystrophica according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	basement membrane	GO:005604	8.7	FREM1, ERBB2IP, COL7A1

Biological processes related to epidermolysis bullosa dystrophica according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen catabolic process	GO:030574	9.5	MMP10, MMP1
2	extracellular matrix disassembly	GO:022617	9.3	MMP1, MMP10
3	extracellular matrix organization	GO:030198	8.8	BMP1, MMP1, MMP10, COL7A1
4	cell adhesion	GO:007155	8.7	FREM1, ERBB2IP, COL7A1

Molecular functions related to epidermolysis bullosa dystrophica according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	metalloendopeptidase activity	GO:004222	9.1	BMP1, MMP1, MMP10