Epidermolysis Bullosa disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Epidermolysis Bullosa

Sources:
⁴²NIH Rare Diseases, ⁶⁴Wikipedia, ³²MalaCards
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NIH Rare Diseases:⁴² Epidermolysis bullosa (eb) is a group of genetic skin diseases that cause the skin to blister very easily. blisters form in response to minor injuries or friction, such as rubbing or scratching. there are four main types of epidermolysis bullosa:dystrophic epidermolysis bullosa epidermolysis bullosa simplex junctional epidermolysis bullosa kindler syndrome identifying the exact type can be hard because there are many subtypes of eb. within each type or subtype, a person may be mildly or severely affected. the disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. most types of eb are inherited. the inheritance pattern may be autosomal dominant or autosomal recessive. management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. last updated: 10/14/2014

MalaCards based summary: Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa with pyloric atresia and bullous pemphigoid. An important gene associated with Epidermolysis Bullosa is KRT14 (keratin 14), and among its related pathways are Glucocorticoid receptor regulatory network and Adhesion. The drugs phenytoin and phenytoin sodium and the compounds calcipotriol and proline have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related mouse phenotypes are respiratory system and immune system.

Wikipedia:⁶⁴ Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and... more...

Aliases & Classifications for Epidermolysis Bullosa

Sources:
⁹Disease Ontology, ⁴²NIH Rare Diseases, ¹¹DISEASES, ⁴⁴Novoseek, ⁶¹UMLS, ³⁴MeSH, ⁵⁶SNOMED-CT, ³⁹NCIt
See all sources

Epidermolysis Bullosa, Aliases & Descriptions:

Name: Epidermolysis Bullosa ⁹ ⁴² ¹¹ ⁴⁴ ⁶¹

Acantholysis Bullosa ⁹

Eb ⁴²

Classifications:

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

External Ids:

Disease Ontology⁹ DOID:2730

MeSH³⁴ D004820

SNOMED-CT⁵⁶ 205580008, 61003004

NCIt³⁹ C67383

UMLS⁶¹ C0014527

Related Diseases for Epidermolysis Bullosa

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases related to Epidermolysis Bullosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50) (show all 244)

id	Related Disease	Score	Top Affiliating Genes
1	epidermolysis bullosa with pyloric atresia	32.1	ITGB4
2	bullous pemphigoid	31.8	COL17A1, COL7A1
3	epidermolysis bullosa simplex, generalized	31.7	KRT5, KRT14
4	epidermolysis bullosa simplex, dowling-meara type	31.7	KRT5, KRT14
5	epidermolysis bullosa simplex	31.7	PLEC, COL17A1, KRT14, KRT5, ITGB4
6	epidermolysis bullosa simplex, localized	31.7	KRT5, KRT14
7	epidermolysis bullosa acquisita	31.6	LAMA3, LAMC2, ITGB4, COL17A1
8	junctional epidermolysis bullosa, non-herlitz type	31.5	COL17A1, LAMB3
9	junctional epidermolysis bullosa	31.5	COL17A1, LAMA3, LAMB3, LAMC2
10	epidermolysis bullosa simplex-mp	31.5	KRT5
11	epidermolysis bullosa simplex with pyloric atresia	31.5	PLEC
12	muscular dystrophy	31.5	PLEC, KRT14
13	epidermolysis bullosa simplex, recessive 1	31.3	KRT14, KRT5
14	kindler syndrome	31.2	ITGB4, COL7A1
15	junctional epidermolysis bullosa, herlitz type	31.2	LAMA3, LAMB3, LAMC2
16	mucous membrane pemphigoid	31.0	COL17A1, COL7A1
17	lichen planus	30.6	COL17A1, LAMC2
18	skin disease	30.5	KRT14, COL17A1
19	basal cell carcinoma	30.1	COL17A1, ITGB4, LAMC2
20	colorectal cancer	29.8	LAMC2, ITGB4, KRT14, KRT5
21	lung cancer	29.5	LAMB3, LAMC2, ITGB4, KRT14, KRT5
22	recessive dystrophic epidermolysis bullosa	11.4
23	epidermolysis bullosa dystrophica	11.2
24	dominant dystrophic epidermolysis bullosa	11.1
25	epidermolysis bullosa pruriginosa	11.0
26	esophagitis	10.9
27	epidermolysis bullosa simplex with mottled pigmentation	10.9
28	epidermolysis bullosa simplex with muscular dystrophy	10.8
29	generalized dominant dystrophic epidermolysis bullosa	10.8
30	severe generalized recessive dystrophic epidermolysis bullosa	10.7
31	cicatricial pemphigoid	10.7
32	epidermolysis bullosa dystrophica, ar	10.7
33	lupus erythematosus	10.7
34	epidermolysis bullosa dystrophica, ad	10.7
35	amyloidosis	10.6
36	epidermolysis bullosa simplex, ogna type	10.6
37	epidermolysis bullosa, lethal acantholytic	10.6
38	crohn's disease	10.6
39	aplasia cutis congenita	10.6
40	epidermolysis bullosa, pretibial	10.6
41	systemic lupus erythematosus	10.6
42	recessive dystrophic epidermolysis bullosa, generalized, other	10.6
43	epidermolysis bullosa simplex superficialis	10.6
44	epidermolysis bullosa simplex with anodontia/hypodontia	10.6
45	laryngitis	10.5
46	junctional epidermolysis bullosa inversa	10.5
47	epidermolysis bullosa, junctional, with pyloric stenosis	10.5
48	centripetalis recessive dystrophic epidermolysis bullosa	10.5
49	dilated cardiomyopathy	10.5
50	dermatitis	10.5

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

Symptoms for Epidermolysis Bullosa

Drugs & Therapeutics for Epidermolysis Bullosa

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS⁶¹/NDF-RT⁴⁰:

Show with subtypes

phenytoin

phenytoin sodium

phenytoin sodium,prompt

phenytoin sodium,extended

Genetic Tests for Epidermolysis Bullosa

Anatomical Context for Epidermolysis Bullosa

Sources:
³²MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa:

³²

Skin, Testes, Bone, Bone marrow, Colon, Lymph node, Breast, T cells, B cells, Eye, Heart, Kidney, Lung, Thyroid, Pons, Tongue, Trachea, Neutrophil

Animal Models for Epidermolysis Bullosa or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.5	LAMB3, LAMC2, ITGB4, KRT14
2	immune system phenotype	MP:0005387	8.3	KRT14, COL17A1, PLEC, ITGB4, LAMC2
3	craniofacial phenotype	MP:0005382	7.4	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, KRT14
4	digestive/alimentary phenotype	MP:0005381	7.3	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, KRT14
5	integument phenotype	MP:0010771	6.4	KRT5, LAMA3, LAMB3, LAMC2, ITGB4, PLEC
6	mortality/aging	MP:0010768	6.2	LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1

Publications for Epidermolysis Bullosa

Sources:
⁵¹PubMed
See all sources

Articles related to Epidermolysis Bullosa:

(show top 50) (show all 1867)

id	Title	Authors	Year
1	Dystrophic Epidermolysis Bullosa Associated with Amniotic Band Syndrome. (24383893)	Snadecki H.... Wiss K.	2014
2	Hand Surgery for Dystrophic Epidermolysis Bullosa. (24390599)	Luria S.... Eylon S.	2014
3	Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)	Bergant SuhodolA8an A.... DragoA! V.	2014
4	Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)	Mahto A.... Rustin M.H.	2013
5	Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra. (23283611)	Singh C.... Mala Y.M.	2013
6	Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)	SchAPnig S.... Seeger K.	2013
7	Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)	Ludwig R.J.	2013
8	Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)	Bchetnia M.... Laprise C.	2013
9	Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)	Reddy H.... Wojnarowska F.	2013
10	Squamous cell carcinoma as a complication of epidermolysis bullosa. (22964184)	Larocca C.A.... Milner S.M.	2012
11	Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis. (21853547)	Karaman IliA8 M.... MajeriA8 Kogler V.	2011
12	Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)	Chamcheu J.C.... TAPrmAo H.	2011
13	Implant-supported fixed dental prostheses in an edentulous patient with dystrophic epidermolysis bullosa. (20234891)	Muller F.... Wagner W.	2010
14	Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)	Gottschalk A.... Hahnenkamp K.	2010
15	A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)	Flohil S.C.... Jonkman M.F.	2010
16	Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care. (20447507)	Duipmans J.C.... Jonkman M.F.	2010
17	Epidermolysis bullosa pruriginosa in association with lichen planopilaris. (20055845)	Almaani N.... McGrath J.A.	2009
18	Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. (18563182)	D'Alessio M.... Meneguzzi G.	2008
19	Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. (18284387)	Kivisaari A.K.... KAohAori V.M.	2008
20	Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)	Horiguchi Y.... Shimizu H.	2005
21	The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)	Hamada T.... Hashimoto T.	2004
22	Granulocyte-derived elastase and gelatinase B are required for dermal-epidermal separation induced by autoantibodies from patients with epidermolysis bullosa acquisita and bullous pemphigoid. (15538734)	Shimanovich I.... Sitaru C.	2004
23	Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)	Fivenson D.P.... Cohen L.V.	2003
24	Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)	Benvenuto C.... Cestari T.F.	2003
25	Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)	Charlesworth A.... Meneguzzi G.	2003
26	Junctional epidermolysis bullosa with pyloric stenosis. (11841649)	Morrell D.S.... Fine J.D.	2001
27	Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. (10951252)	Takizawa Y.... Shimizu H.	2000
28	A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. (10383750)	MA1ller F.B.... Korge B.P.	1999
29	Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)	Sezgin G.... BA1yA1kkale G.	1999
30	Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)	Schattenkirchner S.... Smola H.	1999
31	Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. (10383751)	Tamai K.... Uitto J.	1999
32	DNA-based prenatal diagnosis in epidermolysis bullosa]. (9451906)	Cserhalmi-Friedman B.P.... Christiano M.A.	1998
33	180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)	Mazzanti C.... Zambruno G.	1998
34	Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)	Vailly J.... Meneguzzi G.	1998
35	Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)	Posteraro P.... Zambruno G.	1998
36	Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)	Mellerio J.E.... McGrath J.A.	1997
37	Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)	Gache Y.... Ortonne J.P.	1996
38	A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)	Christiano A.M.... Uitto J.	1996
39	Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)	Jonkman M.F.... Scheffer H.	1996
40	Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)	Chen H.... Epstein E.H. Jr.	1995
41	Esophageal perforation in recessive dystrophic epidermolysis bullosa. (8166505)	Horan T.A.... Magro C.	1994
42	Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)	Nesin M.... Kim Y.	1994
43	Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)	Phillips R.J.... Lake B.D.	1994
44	Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. (1358979)	Gruis N.A.... Vermeer B.J.	1992
45	Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. (1474191)	McGrath J.A.... Eady R.A.	1992
46	Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)	Hill J.C.... Parsons D.S.	1992
47	Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)	Kern I.B.... Willis S.	1989
48	Acidic glycosaminoglycans in cultured skin fibroblasts of a patient with epidermolysis bullosa acquisita. (7404577)	Igarashi M.... Seiji M.	1980
49	Vitamin E treatment of epidermolysis bullosa acquisita. (1022216)	Rosten M.	1976
50	Letter: Esophageal epidermolysis bullosa dystrophica? (803809)	Hahn A.L.	1975

Genes related to Epidermolysis Bullosa

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Epidermolysis Bullosa:

- Elite gene

id	Symbol	Description	Score	Implication
1	KRT14	keratin 14	21.45	GeneCards inferred via : Disorders, Publications, Gene name, Summaries (show sections)
2	COL7A1	collagen, type VII, alpha 1	19.41	GeneCards inferred via : Publications, Disorders, Gene name, Summaries (show sections)
3	KRT5	keratin 5	17.40	GeneCards inferred via : Publications, Disorders, Gene name, Summaries (show sections)
4	LAMC2	laminin, gamma 2	15.37	GeneCards inferred via : Disorders, Publications, Gene name, Summaries (show sections)
5	PLEC	plectin	13.37	GeneCards inferred via : Disorders, Publications, Gene name, Summaries (show sections)
6	ITGB4	integrin, beta 4	11.32	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
7	LAMB3	laminin, beta 3	9.31	GeneCards inferred via : Disorders, Summaries, Publications (show sections)
8	COL17A1	collagen, type XVII, alpha 1	7.30	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
9	LAMA3	laminin, alpha 3	5.29	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
10	BFSP2	beaded filament structural protein 2, phakinin	3.22	GeneCards inferred via : Summaries (show sections)

Products for genes related to Epidermolysis Bullosa disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	8	-	9	10
2	Novus Biologicals	7	6	10	-

Variations for Epidermolysis Bullosa

Expression for genes affiliated with Epidermolysis Bullosa

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa

Search GEO for disease gene expression data for Epidermolysis Bullosa.

Pathways for genes affiliated with Epidermolysis Bullosa

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵Cell Signaling Technology, ³⁰KEGG, ⁵⁹Thomson Reuters, ¹³EMD Millipore, ⁵²QIAGEN, ⁵⁴Reactome
See all sources

Pathways related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Glucocorticoid receptor regulatory network³⁷	9.8	KRT5, KRT14
2	Adhesion⁵	9.6	ITGB4, PLEC
3	Protein digestion and absorption³⁰	9.5	COL17A1, COL7A1
4	Cytoskeleton remodeling Keratin filaments⁵⁹	9.4	KRT5, KRT14, PLEC
5	a6b1 and a6b4 Integrin signaling³⁷	9.4	COL17A1, ITGB4
6	Validated transcriptional targets of AP1 family members Fra1 and Fra2³⁷	9.2	LAMA3, ITGB4
7	Cell adhesion ECM remodeling⁵⁹ Show member pathways Metalloproteases in connective tissue degradation¹³	8.8	LAMA3, LAMB3, LAMC2
8	Leishmaniasis³⁰ Show member pathways Toxoplasmosis³⁰ Inflammatory bowel disease (IBD)³⁰	8.8	LAMA3, LAMB3, LAMC2
9	Amoebiasis³⁰	8.8	LAMC2, LAMB3, LAMA3
10	Pathways in cancer³⁰	8.8	LAMC2, LAMB3, LAMA3
11	Small cell lung cancer³⁰	8.8	LAMC2, LAMB3, LAMA3
12	Beta-Adrenergic Signaling⁵² Show member pathways Erythropoietin Pathway⁵² CDK5 Pathway⁵² Insulin Receptor Pathway⁵²	8.3	LAMA3, LAMB3, LAMC2, ITGB4
13	Focal adhesion³⁰ Show member pathways HGF Pathway⁵² Integrin-mediated cell adhesion³⁷ Focal Adhesion³⁷ ECM-receptor interaction³⁰	8.3	LAMA3, LAMB3, LAMC2, ITGB4
14	PI3K-Akt signaling pathway³⁰	8.3	LAMA3, LAMB3, LAMC2, ITGB4
15	Non-integrin membrane-ECM interactions⁵⁴ Show member pathways Proteogylcan syndecan-mediated signaling events³⁷ Laminin interactions⁵⁴ Syndecan interactions⁵⁴	8.3	LAMA3, LAMB3, LAMC2, ITGB4
16	Phospholipase-C Pathway⁵² Show member pathways PTEN Pathway⁵²	7.4	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
17	Integrin Pathway⁵² Show member pathways Inhibition of Angiogenesis by TSP1⁵² Transendothelial Migration of Leukocytes⁵² FAK1 Signaling⁵² GnRH Signaling⁵² UPA-UPAR Pathway⁵²	7.4	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
18	ERK Signaling⁵² Show member pathways ILK Signaling⁵² Molecular Mechanisms of Cancer⁵² Rho Family GTPases⁵² MAPK Signaling⁵²	7.4	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
19	Alpha6-Beta4 Integrin Signaling Pathway³⁷ Show member pathways Type I hemidesmosome assembly⁵⁴	7.3	LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL17A1
20	Cell junction organization⁵⁴ Show member pathways Signal regulatory protein (SIRP) family interactions⁵⁴ Tight junction interactions⁵⁴ Cell-Cell communication⁵⁴ DSCAM interactions⁵⁴ Adherens junctions interactions⁵⁴ Nectin/Necl trans heterodimerization⁵⁴ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components⁵⁴ Cell-cell junction organization⁵⁴ Cell-extracellular matrix interactions⁵⁴ Localization of the PINCH-ILK-PARVIN complex to focal adhesions⁵⁴	7.3	LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL17A1
21	Collagen biosynthesis and modifying enzymes⁵⁴ Show member pathways Anchoring fibril formation⁵⁴ Blood Coagulation Cascade⁵² Collagen formation⁵⁴ Crosslinking of collagen fibrils⁵⁴ Intrinsic Prothrombin Activation Pathway⁵² Assembly of collagen fibrils and other multimeric structures⁵⁴	6.9	COL17A1, LAMA3, LAMB3, LAMC2, ITGB4, PLEC
22	Degradation of the extracellular matrix⁵⁴ Show member pathways Collagen degradation⁵⁴ Extracellular matrix organization⁵⁴	6.9	LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1

Compounds for genes affiliated with Epidermolysis Bullosa

Sources:
⁴⁴Novoseek, ⁶⁰Tocris Bioscience, ²⁹IUPHAR, ¹²DrugBank
See all sources

Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	calcipotriol⁴⁴ ⁶⁰ ²⁹ ¹²	12.4	KRT5, KRT14, ITGB4
2	proline⁴⁴	9.2	KRT5, KRT14, COL17A1
3	phenylalanine⁴⁴	9.1	COL17A1, KRT14, KRT5
4	serine⁴⁴	8.1	KRT5, KRT14, COL17A1, COL7A1, ITGB4
5	kalinin⁴⁴	8.0	KRT5, ITGB4, LAMC2, LAMB3, LAMA3

GO Terms for genes affiliated with Epidermolysis Bullosa

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	keratin filament	GO:045095	9.8	KRT5, KRT14
2	intermediate filament	GO:005882	9.2	BFSP2, KRT14, KRT5
3	hemidesmosome	GO:030056	9.1	ITGB4, PLEC, COL17A1
4	laminin-5 complex	GO:005610	8.9	LAMC2, LAMB3, LAMA3
5	basement membrane	GO:005604	8.3	COL17A1, COL7A1, ITGB4, LAMA3
6	extracellular region	GO:005576	7.5	COL17A1, COL7A1, LAMC2, LAMB3, LAMA3

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

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen catabolic process	GO:030574	9.5	COL17A1, COL7A1
2	cell-matrix adhesion	GO:007160	9.1	COL17A1, ITGB4
3	cell adhesion	GO:007155	7.9	LAMA3, LAMB3, LAMC2, ITGB4, COL7A1
4	extracellular matrix disassembly	GO:022617	7.8	LAMA3, LAMB3, LAMC2, COL7A1, COL17A1
5	epidermis development	GO:008544	7.3	LAMA3, KRT5, KRT14, COL17A1, COL7A1, LAMC2
6	extracellular matrix organization	GO:030198	7.0	LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1
7	cell junction assembly	GO:034329	6.8	LAMC2, LAMB3, LAMA3, ITGB4, PLEC, COL17A1
8	hemidesmosome assembly	GO:031581	6.7	KRT5, KRT14, COL17A1, PLEC, ITGB4, LAMC2

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

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:005200	9.0	KRT5, KRT14, BFSP2
2	protein binding	GO:005515	7.5	ITGB4, PLEC, COL7A1, COL17A1, KRT14, KRT5

Products for genes affiliated with Epidermolysis Bullosa

Antibodies
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Sources for Epidermolysis Bullosa

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

EB MCID: EPD016 MIFTS: 57	Epidermolysis Bullosa (EB) malady Rare diseases, Skin diseases categories
4 drugs, 10 genes, 18 tissues, 244 related diseases, clinical trials Download this MalaCard Expand all tables

Epidermolysis Bullosa (EB) malady