MCID: RCS002
MIFTS: 56

Recessive Dystrophic Epidermolysis Bullosa malady

Genetic diseases (common), Skin diseases categories
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Summaries for Recessive Dystrophic Epidermolysis Bullosa

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65Wikipedia, 33MalaCards
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Wikipedia:65 Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

MalaCards: Recessive Dystrophic Epidermolysis Bullosa, also known as hallopeau-siemens disease, is related to epidermolysis bullosa and epidermolysis bullosa simplex. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Syndecan-1-mediated signaling events. The compounds hematoxylin and sodium dodecylsulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotypes are pigmentation and craniofacial.

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

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20GeneTests, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

recessive dystrophic epidermolysis bullosa 20 22
hallopeau-siemens disease 62


Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

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17GeneCards, 18GeneDecks
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Diseases in the Recessive Dystrophic Epidermolysis Bullosa family:

Dominant Dystrophic Epidermolysis Bullosa

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.5FLG, COL7A1
2epidermolysis bullosa simplex30.7IVL, FLG, KRT1
3basal cell carcinoma30.5IVL, TP53, MMP3, MMP1
4osteoporosis30.5IGFBP3, TGFB1, JUN, MMP3
5melanoma30.3TP53, TGFB1, JUN, MMP1, HMGB1, CDKN2A
6breast cancer30.0JUN, TGFB1, TP53, IVL, IGFBP3, RXRA
7severe generalized recessive dystrophic epidermolysis bullosa11.0
8esophagitis10.9
9recessive dystrophic epidermolysis bullosa, generalized, other10.8
10epidermolysis bullosa dystrophica, ar10.8
11centripetalis recessive dystrophic epidermolysis bullosa10.6
12amyloidosis10.5
13glomerulonephritis10.5
14x-linked ichthyosis10.4
15iga glomerulonephritis10.4
16hypercalcemia10.4
17hidrocystoma10.4
18marfan syndrome10.4
19dental caries10.4
20dilated cardiomyopathy10.4
21nephrotic syndrome10.4
22peritonitis10.4
23scleroderma10.4
24dwarfism10.4
25left ventricular noncompaction10.4
26humoral hypercalcemia of malignancy10.4
27epidermolysis bullosa pruriginosa10.1COL7A1
28kindler syndrome10.1COL7A1
29porokeratosis10.1IVL, FLG
30epidermolytic hyperkeratosis10.1FLG, KRT1
31aortic disease10.1FBN1
32thoracic aortic aneurysm10.1FBN1, MMP1
33aortic aneurysm10.1FBN1
34congenital ichthyosiform erythroderma10.1IVL, FLG
35ichthyosis vulgaris10.1IVL, FLG
36exfoliation syndrome10.1FBN1, MMP1
37molluscum contagiosum10.1IVL, FLG
38bowen syndrome10.1IVL, FLG, KRT1
39leukoplakia10.1KRT1, FLG, IVL
40keratosis10.1IVL, FLG, KRT1
41conjunctivochalasis10.1MMP3, MMP1
42dermatitis herpetiformis10.1MMP3, FBN1
43growth retardation-mild developmental delay-chronic hepatitis syndrome10.1GHRH, IGFBP3
44actinic keratosis10.1TP53
45hailey-hailey disease10.1IVL
46abdominal aortic aneurysm10.1MMP1, MMP3, FBN1
47nonepidermolytic palmoplantar keratoderma10.1FLG, KRT1
48middle ear cholesteatoma10.1IVL, MMP1, FGF2
49lichen planus10.1KRT1, FLG, FBN1, IVL
50fibromatosis, gingival10.1TGFB1, MMP1

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



Diseases related to recessive dystrophic epidermolysis bullosa

Symptoms for Recessive Dystrophic Epidermolysis Bullosa

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Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Recessive Dystrophic Epidermolysis Bullosa

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

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20GeneTests, 22GTR
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Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa20 22

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

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33MalaCards
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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

33
Skin, Bone, Bone marrow, Lymph node, Breast, Pons

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.1FBN1, TP53, RXRA, KRT1, GGT1, CDKN2A
2MP:00053828.1FBN1, TP53, TGFB1, RXRA, FLG, COL7A1
3MP:00020068.1TP53, TGFB1, RXRA, MMP1, CDKN2A, FGF2
4MP:00053717.9FBN1, TP53, RXRA, COL7A1, GGT1
5MP:00053697.8IGFBP3, FBN1, TP53, TGFB1, RXRA, CDKN2A
6MP:00053707.8IGFBP3, TP53, TGFB1, JUN, RXRA, GHRH
7MP:00053857.8FGF2, KRT1, RXRA, JUN, TGFB1, TP53
8MP:00053887.7FBN1, TP53, TGFB1, JUN, RXRA, HMGB1
9MP:00053897.4FBN1, TP53, TGFB1, RXRA, GHRH, GGT1
10MP:00053907.3FBN1, TP53, JUN, RXRA, MMP3, COL7A1
11MP:00053797.1IGFBP3, FBN1, TP53, TGFB1, JUN, RXRA
12MP:00107717.1FBN1, TP53, TGFB1, JUN, RXRA, FLG
13MP:00036317.0FBN1, TP53, TGFB1, JUN, RXRA, MMP3
14MP:00053917.0TP53, TGFB1, JUN, RXRA, HMGB1, GGT1
15MP:00053867.0IGFBP3, FBN1, TP53, TGFB1, JUN, RXRA
16MP:00053846.9FBN1, TP53, TGFB1, JUN, RXRA, FLG
17MP:00053976.5RXRA, JUN, TGFB1, TP53, FBN1, FLG
18MP:00053876.3FBN1, TP53, TGFB1, JUN, RXRA, FLG
19MP:00107686.0RXRA, JUN, TGFB1, TP53, FBN1, FLG
20MP:00053786.0JUN, TGFB1, TP53, FBN1, IGFBP3, RXRA
21MP:00053765.2FGF2, IGFBP3, FBN1, TP53, TGFB1, JUN

Publications for Recessive Dystrophic Epidermolysis Bullosa

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52PubMed
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Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50)    (show all 273)
idTitleAuthorsYear
1
Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)
2013
2
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. (24032424)
2013
3
The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index. (22882670)
2013
4
Use of cetuximab as an adjuvant agent to radiotherapy and surgery in recessive dystrophic epidermolysis bullosa with squamous cell carcinoma. (23398414)
2013
5
A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. (24075228)
2013
6
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. (22991407)
2012
7
Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N. (22854212)
2012
8
Use of a keratin-based wound dressing in the management of wounds in a patient with recessive dystrophic epidermolysis bullosa. (22914035)
2012
9
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. (21555586)
2011
10
A Male Patient with Humoral Hypercalcemia of Malignancy (HHM) with Leukocytosis Caused by Cutaneous Squamous Cell Carcinoma Resulting from Recessive Dystrophic Epidermolysis Bullosa. (23926398)
2011
11
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations. (20060269)
2010
12
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. (20920254)
2010
13
Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa. (20447505)
2010
14
Cadaveric allograft for wound closure after resection of squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: a report of 32 resections and repairs in 2 patients. (19692898)
2009
15
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. (19665875)
2009
16
A rare case of recessive dystrophic epidermolysis bullosa and verruciform xanthoma. (18681870)
2009
17
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. (18030675)
2008
18
Verruciform xanthoma in recessive dystrophic epidermolysis bullosa Hallopeau-Siemens. (17822501)
2007
19
Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. (17868393)
2007
20
Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy. (17553043)
2007
21
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. (15816848)
2005
22
Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. (16060872)
2005
23
Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)
2003
24
Oral lesions in recessive dystrophic epidermolysis bullosa. (14628894)
2003
25
Squamous cell carcinoma developing in a 12-year-old boy with nonHallopeau-Siemens recessive dystrophic epidermolysis bullosa. (12786841)
2003
26
Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. (14643524)
2003
27
Reversible acute global left ventricular dysfunction in a patient with autosomal recessive dystrophic epidermolysis bullosa. (11488288)
2001
28
Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa. (11000732)
2000
29
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. (10408773)
1999
30
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. (9804332)
1998
31
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)
1997
32
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. (9284110)
1997
33
Recessive dystrophic epidermolysis bullosa. Two case reports with 20-year follow-up. (9078638)
1997
34
A new protocol for the treatment of hand deformities in recessive dystrophic epidermolysis bullosa (13 cases). (9259950)
1997
35
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)
1996
36
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. (8757758)
1996
37
Expression of collagenase and stromelysin in skin fibroblasts from recessive dystrophic epidermolysis bullosa. (7625851)
1995
38
Phenytoin therapy in recessive dystrophic epidermolysis bullosa. (20952940)
1995
39
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. (7706758)
1995
40
Esophageal perforation in recessive dystrophic epidermolysis bullosa. (8166505)
1994
41
Collagen VII in severe recessive dystrophic epidermolysis bullosa: expression of mRNA but lack of intact protein product in skin and cutaneous cells in vitro. (8106757)
1994
42
A scleroderma-like variant of recessive dystrophic epidermolysis bullosa? (8251361)
1993
43
Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. (1474191)
1992
44
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa. (1431215)
1992
45
Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin. (1419750)
1992
46
HLA and epidermolysis bullosa. Association between the HLA complex and recessive dystrophic epidermolysis bullosa. (1929459)
1991
47
Increased gene expression of matrix metalloproteinase-3 (stromelysin) in skin fibroblasts from patients with severe recessive dystrophic epidermolysis bullosa. (1704217)
1991
48
Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. (3286309)
1988
49
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker. (3021861)
1986
50
Therapeutic considerations in recessive dystrophic epidermolysis bullosa. (6271076)
1981

Variations for Recessive Dystrophic Epidermolysis Bullosa

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1COL7A1NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys)single nucleotide variantPathogenicrs121912828GRCh37Chr 3, 48603714: 48603714
2COL7A1NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter)single nucleotide variantPathogenicrs121912830GRCh37Chr 3, 48630046: 48630046
3COL7A1NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg)single nucleotide variantPathogenicrs121912840GRCh37Chr 3, 48618916: 48618916
4COL7A1NM_000094.3(COL7A1): c.5443G> C (p.Gly1815Arg)single nucleotide variantPathogenicrs121912841GRCh37Chr 3, 48615930: 48615930
5COL7A1NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser)single nucleotide variantPathogenicrs121912838GRCh37Chr 3, 48612861: 48612861
6COL7A1NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg)single nucleotide variantPathogenicrs121912839GRCh37Chr 3, 48610145: 48610145
7COL7A1NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp)single nucleotide variantPathogenicrs121912849GRCh37Chr 3, 48612669: 48612669
8COL7A1NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg)single nucleotide variantPathogenicrs121912851GRCh37Chr 3, 48605169: 48605169
9COL7A1NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter)single nucleotide variantPathogenicrs121912852GRCh37Chr 3, 48607737: 48607737
10COL7A1NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg)single nucleotide variantPathogenicrs121912853GRCh37Chr 3, 48604152: 48604152
11COL7A1NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter)single nucleotide variantPathogenicrs121912854GRCh37Chr 3, 48630348: 48630348

Expression for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa.

Pathways for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 60Thomson Reuters
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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MMP1, IGFBP3
29.8MMP1, TGFB1
39.8CDKN2A, TP53
4
Show member pathways
9.8CDKN2A, TP53
59.5TP53, TGFB1, ARG1
69.5MMP1, JUN, TP53
79.5TP53, JUN, MMP1
8
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.5MMP1, JUN, TP53
9
Show member pathways
DNA damage response38
9.5CDKN2A, TP53, IGFBP3
109.4MMP1, TGFB1, TP53
11
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
9.4TP53, JUN, CDKN2A
129.4TP53, JUN, CDKN2A
13
Show member pathways
Cell cycle38
9.4TP53, TGFB1, CDKN2A
14
Show member pathways
9.4TP53, TGFB1, CDKN2A
15
Show member pathways
9.4TP53, TGFB1, CDKN2A
169.4IGFBP3, TP53, JUN
179.4KRT1, TGFB1, IVL
189.4IVL, JUN, MMP1
19
Show member pathways
Signal transduction PTEN pathway60
9.3JUN, TGFB1, TP53
209.3RXRA, TGFB1
21
Show member pathways
9.2TGFB1, JUN, GHRH, FGF2
229.2TGFB1, JUN, MMP3, MMP1
23
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
9.2TP53, JUN, MMP3, MMP1
249.1TP53, TGFB1, JUN, CDKN2A
25
Show member pathways
MAPK signaling pathway38
9.0TP53, TGFB1, JUN, FGF2
26
Show member pathways
8.9TP53, JUN, HMGB1, FGF2
27
Show member pathways
8.9CDKN2A, KRT1, GHRH, JUN, IVL
28
Show member pathways
8.9FBN1, TGFB1, MMP3, MMP1, COL7A1, FGF2
29
Show member pathways
8.8TP53, TGFB1, JUN, GHRH, FGF2
30
Show member pathways
8.8FBN1, TGFB1, JUN, MMP3, MMP1, COL7A1
31
Show member pathways
8.8FBN1, TP53, TGFB1, GHRH, COL7A1, FGF2
328.7IGFBP3, TP53, TGFB1, JUN, CDKN2A
338.7MMP3, RXRA, TP53, IGFBP3
34
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.6IGFBP3, TGFB1, JUN, RXRA
35
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
8.5TP53, TGFB1, JUN, HMGB1, CDKN2A
36
Show member pathways
8.5TP53, TGFB1, JUN, RXRA
37
Show member pathways
Signaling Pathways in Glioblastoma38
8.2DAPK3, TP53, RXRA, MMP1, CDKN2A, FGF2
38
Show member pathways
8.1FBN1, TP53, TGFB1, JUN, GHRH, COL7A1
39
Show member pathways
8.0TP53, TGFB1, JUN, MMP3, MMP1, GHRH
407.9IGFBP3, TP53, TGFB1, JUN, RXRA, FGF2
41
Show member pathways
7.5DAPK3, TP53, TGFB1, JUN, RXRA, GHRH
427.5FGF2, DAPK3, TP53, TGFB1, JUN, RXRA

Compounds for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 3BitterDB
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Compounds related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1hematoxylin459.1FLG, MMP3, MMP1, IVL, CDKN2A, KRT1
2sodium dodecylsulfate459.1FGF2, KRT1, MMP1, IVL, FBN1
3tgf beta1459.0MMP3, MMP1, TGFB1, IGFBP3, FGF2, FBN1
4gold459.0CDKN2A, GHRH, MMP3, FBN1, IVL
5valine458.9GGT1, COL7A1, IGFBP3, CDKN2A, ARG1, KRT1
6urea45 24 1110.8FLG, MMP3, GHRH, GGT1, ARG1, IVL
7gf 109203x45 619.7MMP1, FLG, JUN, IVL, FGF2
8sp 60012545 619.7TGFB1, HMGB1, MMP1, JUN, TP53
9betacarotene458.7IGFBP3, IVL, TGFB1, MMP1, GGT1
10matrigel458.6MMP1, HMGB1, TGFB1, MMP3, JUN, FGF2
11ascorbic acid45 249.6GGT1, MMP3, FGF2, IGFBP3, FLG, FBN1
12hyaluronic acid45 249.5MMP3, MMP1, GGT1, FGF2, IGFBP3, FBN1
13egcg458.5CDKN2A, MMP1, JUN, TP53, IVL, IGFBP3
14arsenite45 249.5CDKN2A, TP53, TGFB1, JUN, MMP1, GGT1
15n acetylcysteine458.4MMP1, GGT1, CDKN2A, TP53, JUN, MMP3
16pge2458.3ARG1, FGF2, JUN, MMP3, MMP1, IGFBP3
17paraffin458.2IVL, CDKN2A, KRT1, MMP3, MMP1, TGFB1
18paclitaxel45 51 1110.2IGFBP3, TP53, MMP1, TGFB1, CDKN2A, FGF2
19methotrexate51 45 1110.2GGT1, IGFBP3, TGFB1, MMP3, MMP1, CDKN2A
20pd 98,059458.2FGF2, HMGB1, MMP1, IVL, MMP3, JUN
21tamoxifen45 51 29 1111.2IGFBP3, TGFB1, JUN, GHRH, GGT1, TP53
22nicotine45 29 51 1111.1CDKN2A, TGFB1, FLG, IVL, KRT1, GGT1
23cycloheximide458.1FGF2, CDKN2A, TP53, GHRH, IGFBP3, MMP1
24chloramphenicol45 3 51 1111.1IGFBP3, IVL, JUN, COL7A1, RXRA, MMP3
2512-o-tetradecanoylphorbol 13-acetate458.0JUN, KRT1, RXRA, MMP3, MMP1, TGFB1
26arginine458.0GHRH, TP53, ARG1, CDKN2A, GGT1, KRT1
27cyclosporin a45 29 619.9IGFBP3, IVL, FGF2, TGFB1, JUN, MMP1
28sb 20358045 618.9IVL, TP53, TGFB1, MMP3, JUN, MMP1
29butyrate457.9TGFB1, TP53, MMP3, IVL, HMGB1, IGFBP3
30lactate457.8IVL, TGFB1, MMP3, IGFBP3, MMP1, HMGB1
31curcumin457.8MMP3, JUN, TGFB1, IVL, GGT1, IGFBP3
32vitamin d457.8FBN1, RXRA, IVL, TGFB1, JUN, MMP3
33retinoid457.8JUN, IVL, KRT1, TP53, MMP1, FLG
34calcitriol45 61 24 1110.7FLG, IVL, FGF2, MMP1, RXRA, IGFBP3
35creatinine457.7TGFB1, IGFBP3, MMP1, MMP3, SAA4, HMGB1
36vegf457.6CDKN2A, ARG1, TGFB1, TP53, IVL, FGF2
37thymidine45 248.6RXRA, TP53, FGF2, IGFBP3, TGFB1, JUN
38testosterone45 61 24 1110.5RXRA, MMP1, HMGB1, GHRH, KRT1, GGT1
39glutamate457.4GGT1, IGFBP3, ARG1, FBN1, RXRA, MMP3
40progesterone45 29 61 24 1111.4RXRA, TP53, HMGB1, IGFBP3, FBN1, CDKN2A
41steroid457.3IVL, HMGB1, FLG, IGFBP3, RXRA, SAA4
42cysteine457.1GGT1, CDKN2A, IGFBP3, HMGB1, COL7A1, MMP1
43cholesterol45 29 24 119.8SAA4, IGFBP3, RXRA, MMP3, IVL, GGT1
44glucose456.7IVL, RXRA, CDKN2A, GGT1, GHRH, IGFBP3
45calcium45 51 24 119.6SAA4, IVL, RXRA, GHRH, FLG, FBN1
46lipid456.5GGT1, IVL, RXRA, FLG, MMP3, SAA4
47estrogen455.8IGFBP3, FGF2, CDKN2A, KRT1, GHRH, MMP1
48retinoic acid45 246.8CDKN2A, IGFBP3, IVL, KRT1, HMGB1, MMP1
49dexamethasone45 51 29 118.6IGFBP3, IVL, TGFB1, JUN, RXRA, MMP3
50serine454.6MMP3, MMP1, GHRH, COL7A1, HMGB1, KRT1

GO Terms for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.3MMP1, MMP3, TGFB1, FBN1
2extracellular spaceGO:0056157.5FGF2, IGFBP3, FBN1, TGFB1, MMP3, GHRH
3extracellular regionGO:0055767.0IGFBP3, FBN1, TGFB1, MMP3, MMP1, SAA4

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1cellular response to dexamethasone stimulusGO:07154910.1ARG1, TGFB1
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.1IGFBP3, GHRH
3SMAD protein import into nucleusGO:00718410.1JUN, TGFB1
4collagen catabolic processGO:03057410.0MMP3, MMP1, COL7A1
5negative regulation of neuroblast proliferationGO:00740610.0TGFB1, TP53
6replicative senescenceGO:09039910.0TP53, CDKN2A
7positive regulation of histone deacetylationGO:0310659.9TGFB1, TP53
8positive regulation of endothelial cell proliferationGO:0019389.9JUN, ARG1, FGF2
9hyaluronan catabolic processGO:0302149.9FGF2, TGFB1
10extracellular matrix disassemblyGO:0226179.9COL7A1, MMP1, MMP3, FBN1
11negative regulation of blood vessel endothelial cell migrationGO:0435379.9FGF2, TGFB1
12positive regulation of cell cycle arrestGO:0711589.8TP53, TGFB1, CDKN2A
13Ras protein signal transductionGO:0072659.8TP53, CDKN2A, FGF2
14positive regulation of blood vessel endothelial cell migrationGO:0435369.7FGF2, TGFB1
15negative regulation of DNA replicationGO:0081569.7TGFB1, TP53
16negative regulation of cell growthGO:0303089.4TP53, TGFB1, CDKN2A, FGF2
17modulation by virus of host morphology or physiologyGO:0190489.4RXRA, TGFB1
18transforming growth factor beta receptor signaling pathwayGO:0071799.3TP53, TGFB1, JUN
19extracellular matrix organizationGO:0301989.2FGF2, COL7A1, MMP1, MMP3, TGFB1, FBN1
20cell cycle arrestGO:0070509.1CDKN2A, TGFB1, TP53
21negative regulation of transcription, DNA-templatedGO:0458929.1TP53, TGFB1, JUN, CDKN2A, FGF2
22positive regulation of apoptotic processGO:0430659.1IGFBP3, TP53, TGFB1, HMGB1
23positive regulation of transcription, DNA-templatedGO:0458939.1FGF2, CDKN2A, JUN, TGFB1, TP53
24negative regulation of cell proliferationGO:0082858.8IGFBP3, TP53, TGFB1, JUN, CDKN2A, FGF2
25positive regulation of transcription from RNA polymerase II promoterGO:0459447.8TP53, TGFB1, JUN, RXRA, HMGB1, CDKN2A

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

idNameGO IDScoreTop Affiliating Genes
1MDM2/MDM4 family protein bindingGO:0973719.5TP53, CDKN2A
2transcription factor bindingGO:0081348.9CDKN2A, HMGB1, JUN, TP53
3protein bindingGO:0055155.7FGF2, IGFBP3, FBN1, TP53, TGFB1, JUN

Products for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Sources for Recessive Dystrophic Epidermolysis Bullosa

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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