MCID: RCS002
MIFTS: 47

Recessive Dystrophic Epidermolysis Bullosa malady

Genetic diseases (common), Skin diseases categories

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

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Aliases & Descriptions for Recessive Dystrophic Epidermolysis Bullosa:

Name: Recessive Dystrophic Epidermolysis Bullosa 20 22
 
Hallopeau-Siemens Disease 61


Classifications:



Summaries for Recessive Dystrophic Epidermolysis Bullosa

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MalaCards based summary: 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.

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

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Diseases in the Dominant Dystrophic Epidermolysis Bullosa family:

recessive dystrophic epidermolysis bullosa

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa33.0FLG, COL7A1
2epidermolysis bullosa simplex31.1FLG, IVL, KRT1
3basal cell carcinoma30.5IVL, TP53, MMP3, MMP1
4osteoporosis30.3IGFBP3, TGFB1, MMP3, JUN
5melanoma29.3TP53, CDKN2A, HMGB1, FGF2, MMP1, TGFB1
6breast cancer28.3JUN, TGFB1, IVL, IGFBP3, RXRA, MMP1
7severe generalized recessive dystrophic epidermolysis bullosa11.1
8esophagitis10.9
9recessive dystrophic epidermolysis bullosa, generalized, other10.8
10generalized dominant dystrophic epidermolysis bullosa10.7
11centripetalis recessive dystrophic epidermolysis bullosa10.7
12epidermolysis bullosa pruriginosa10.6COL7A1
13kindler syndrome10.5COL7A1
14glomerulonephritis10.5
15amyloidosis10.5
16porokeratosis10.5IVL, FLG
17epidermolytic hyperkeratosis10.4FLG, KRT1
18aortic disease10.4FBN1
19thoracic aortic aneurysm10.4MMP1, FBN1
20ichthyosis lamellar 110.4IVL, FLG
21ichthyosis vulgaris10.4FLG, IVL
22epidermolysis bullosa dystrophica, ar10.4
23dilated cardiomyopathy10.4
24iga glomerulonephritis10.4
25hypercalcemia10.4
26hidrocystoma10.4
27dental caries10.4
28nephrotic syndrome10.4
29peritonitis10.4
30scleroderma10.4
31dwarfism10.4
32left ventricular noncompaction10.4
33secondary amyloidosis10.4
34exfoliation syndrome10.4MMP1, FBN1
35molluscum contagiosum10.4FLG, IVL
36aortic aneurysm10.4FBN1
37bowen syndrome10.4IVL, KRT1, FLG
38congenital ichthyosiform erythroderma10.4IVL, FLG, KRT1
39leukoplakia10.4FLG, KRT1, IVL
40keratosis10.4FLG, KRT1, IVL
41conjunctivochalasis10.3MMP3, MMP1
42dermatitis herpetiformis10.3MMP3, FBN1
43actinic keratosis10.3TP53
44chronic ulcer of skin10.3MMP1, FGF2
45palmoplantar keratoderma, nonepidermolytic10.3FLG, KRT1
46abdominal aortic aneurysm10.3MMP1, MMP3, FBN1
47middle ear cholesteatoma10.3FGF2, IVL, MMP1
48lichen planus10.3FLG, IVL, KRT1, FBN1
49fibromatosis, gingival10.2MMP1, TGFB1
50galactosemia10.2ARG1, GGT1, IGFBP3

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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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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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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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

31
Skin, Bone, Bone marrow, Lymph node, Breast, Pons

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.1CDKN2A, TP53, RXRA, GGT1, KRT1, FBN1
2MP:00053828.1RXRA, COL7A1, TGFB1, FLG, TP53, FBN1
3MP:00020068.1TP53, TGFB1, RXRA, FGF2, MMP1, CDKN2A
4MP:00053717.9COL7A1, FBN1, TP53, RXRA, GGT1
5MP:00053697.8CDKN2A, RXRA, IGFBP3, FBN1, FGF2, TP53
6MP:00053707.8GHRH, CDKN2A, ARG1, TGFB1, RXRA, JUN
7MP:00053857.8JUN, RXRA, KRT1, FGF2, TP53, FBN1
8MP:00053887.7JUN, TGFB1, TP53, FBN1, RXRA, HMGB1
9MP:00053897.4CDKN2A, GGT1, GHRH, FGF2, RXRA, TGFB1
10MP:00053907.3GGT1, COL7A1, RXRA, JUN, CDKN2A, FGF2
11MP:00053797.1GHRH, JUN, CDKN2A, GGT1, TGFB1, TP53
12MP:00107717.1CDKN2A, FBN1, KRT1, GGT1, TP53, JUN
13MP:00036317.0RXRA, TGFB1, JUN, MMP3, FBN1, GHRH
14MP:00053917.0CDKN2A, JUN, FGF2, HMGB1, GGT1, TGFB1
15MP:00053867.0TP53, CDKN2A, RXRA, HMGB1, TGFB1, IGFBP3
16MP:00053846.9FBN1, TP53, TGFB1, JUN, RXRA, FLG
17MP:00053976.5MMP3, KRT1, GGT1, CDKN2A, ARG1, FGF2
18MP:00053876.3FLG, TP53, TGFB1, ARG1, JUN, RXRA
19MP:00107686.0ARG1, RXRA, COL7A1, HMGB1, KRT1, TGFB1
20MP:00053786.0COL7A1, CDKN2A, GGT1, KRT1, HMGB1, IGFBP3
21MP:00053765.2IGFBP3, FBN1, TGFB1, FGF2, ARG1, CDKN2A

Publications for Recessive Dystrophic Epidermolysis Bullosa

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Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50)    (show all 293)
idTitleAuthorsYear
1
Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (GENEGRAFT). (24933565)
2014
2
Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)
2013
3
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. (24032424)
2013
4
The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index. (22882670)
2013
5
Use of cetuximab as an adjuvant agent to radiotherapy and surgery in recessive dystrophic epidermolysis bullosa with squamous cell carcinoma. (23398414)
2013
6
A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. (24075228)
2013
7
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. (22991407)
2012
8
Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N. (22854212)
2012
9
Use of a keratin-based wound dressing in the management of wounds in a patient with recessive dystrophic epidermolysis bullosa. (22914035)
2012
10
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. (21555586)
2011
11
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
12
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations. (20060269)
2010
13
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. (20920254)
2010
14
Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa. (20447505)
2010
15
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
16
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
17
A rare case of recessive dystrophic epidermolysis bullosa and verruciform xanthoma. (18681870)
2009
18
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. (18030675)
2008
19
Verruciform xanthoma in recessive dystrophic epidermolysis bullosa Hallopeau-Siemens. (17822501)
2007
20
Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. (17868393)
2007
21
Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy. (17553043)
2007
22
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. (15816848)
2005
23
Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. (16060872)
2005
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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Clinvar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

5 (show all 11)
id Gene Variation 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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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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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MMP1, IGFBP3
29.8MMP1, TGFB1
39.8TP53, CDKN2A
4
Show member pathways
9.8TP53, CDKN2A
59.5TP53, TGFB1, ARG1
69.5JUN, TP53, MMP1
79.5JUN, MMP1, TP53
8
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.5MMP1, JUN, TP53
9
Show member pathways
DNA damage response36
9.5TP53, CDKN2A, IGFBP3
109.4TGFB1, MMP1, TP53
11
Show member pathways
Apoptosis Modulation and Signaling36
Apoptosis36
9.4TP53, CDKN2A, JUN
129.4CDKN2A, JUN, TP53
13
Show member pathways
9.4CDKN2A, TP53, TGFB1
14
Show member pathways
Cell cycle36
9.4TGFB1, CDKN2A, TP53
15
Show member pathways
9.4TGFB1, TP53, CDKN2A
169.4JUN, TP53, IGFBP3
179.4TGFB1, KRT1, IVL
189.4JUN, IVL, MMP1
19
Show member pathways
Signal transduction PTEN pathway59
9.3TP53, TGFB1, JUN
209.3TGFB1, RXRA
21
Show member pathways
9.2GHRH, JUN, FGF2, TGFB1
229.2JUN, TGFB1, MMP1, MMP3
23
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway36
9.2MMP3, TP53, MMP1, JUN
249.1TP53, CDKN2A, JUN, TGFB1
25
Show member pathways
MAPK signaling pathway36
9.0FGF2, TP53, TGFB1, JUN
26
Show member pathways
8.9JUN, TP53, HMGB1, FGF2
27
Show member pathways
8.9IVL, JUN, KRT1, CDKN2A, GHRH
28
Show member pathways
8.9TGFB1, FBN1, FGF2, COL7A1, MMP1, MMP3
29
Show member pathways
8.8TP53, JUN, TGFB1, FGF2, GHRH
30
Show member pathways
8.8COL7A1, MMP1, FBN1, TGFB1, JUN, MMP3
31
Show member pathways
8.8FBN1, GHRH, COL7A1, TGFB1, TP53, FGF2
328.7IGFBP3, TP53, TGFB1, CDKN2A, JUN
338.7MMP3, RXRA, TP53, IGFBP3
34
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
8.6JUN, IGFBP3, RXRA, TGFB1
35
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
8.5CDKN2A, HMGB1, JUN, TGFB1, TP53
36
Show member pathways
8.5JUN, TGFB1, TP53, RXRA
37
Show member pathways
Signaling Pathways in Glioblastoma36
8.2FGF2, TP53, RXRA, CDKN2A, DAPK3, MMP1
38
Show member pathways
8.1TP53, JUN, CDKN2A, TGFB1, GHRH, FGF2
39
Show member pathways
8.0CDKN2A, FGF2, TP53, GHRH, MMP1, MMP3
407.9JUN, IGFBP3, TGFB1, TP53, RXRA, FGF2
41
Show member pathways
7.5TGFB1, GHRH, RXRA, CDKN2A, TP53, JUN
427.5RXRA, CDKN2A, MMP1, JUN, TP53, DAPK3

Compounds for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Compounds related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1hematoxylin449.1FLG, MMP3, MMP1, IVL, CDKN2A, KRT1
2sodium dodecylsulfate449.1FGF2, KRT1, MMP1, IVL, FBN1
3tgf beta1449.0MMP3, MMP1, TGFB1, IGFBP3, FGF2, FBN1
4gold449.0CDKN2A, GHRH, MMP3, FBN1, IVL
5valine448.9GGT1, COL7A1, IGFBP3, CDKN2A, ARG1, KRT1
6urea44 24 1110.8FLG, MMP3, GHRH, GGT1, ARG1, IVL
7gf 109203x44 609.7MMP1, FLG, JUN, IVL, FGF2
8sp 60012544 609.7TGFB1, HMGB1, MMP1, JUN, TP53
9betacarotene448.7IGFBP3, IVL, TGFB1, MMP1, GGT1
10matrigel448.6MMP1, HMGB1, TGFB1, MMP3, JUN, FGF2
11ascorbic acid44 249.6GGT1, MMP3, FGF2, IGFBP3, FLG, FBN1
12hyaluronic acid44 249.5MMP3, MMP1, GGT1, FGF2, IGFBP3, FBN1
13egcg448.5CDKN2A, MMP1, JUN, TP53, IVL, IGFBP3
14arsenite44 249.5CDKN2A, TP53, TGFB1, JUN, MMP1, GGT1
15n acetylcysteine448.4MMP1, GGT1, CDKN2A, TP53, JUN, MMP3
16pge2448.3ARG1, FGF2, JUN, MMP3, MMP1, IGFBP3
17paraffin448.2IVL, CDKN2A, KRT1, MMP3, MMP1, TGFB1
18paclitaxel44 50 1110.2IGFBP3, TP53, MMP1, TGFB1, CDKN2A, FGF2
19methotrexate50 44 1110.2GGT1, IGFBP3, TGFB1, MMP3, MMP1, CDKN2A
20pd 98,059448.2FGF2, HMGB1, MMP1, IVL, MMP3, JUN
21tamoxifen44 50 28 1111.2IGFBP3, TGFB1, JUN, GHRH, GGT1, TP53
22nicotine44 28 50 1111.1CDKN2A, TGFB1, FLG, IVL, KRT1, GGT1
23cycloheximide448.1FGF2, CDKN2A, TP53, GHRH, IGFBP3, MMP1
24chloramphenicol44 1 50 1111.1IGFBP3, IVL, JUN, COL7A1, RXRA, MMP3
2512-o-tetradecanoylphorbol 13-acetate448.0JUN, KRT1, RXRA, MMP3, MMP1, TGFB1
26arginine448.0GHRH, TP53, ARG1, CDKN2A, GGT1, KRT1
27cyclosporin a44 28 609.9IGFBP3, IVL, FGF2, TGFB1, JUN, MMP1
28sb 20358044 608.9IVL, TP53, TGFB1, MMP3, JUN, MMP1
29butyrate447.9TGFB1, TP53, MMP3, IVL, HMGB1, IGFBP3
30lactate447.8IVL, TGFB1, MMP3, IGFBP3, MMP1, HMGB1
31curcumin447.8MMP3, JUN, TGFB1, IVL, GGT1, IGFBP3
32vitamin d447.8FBN1, RXRA, IVL, TGFB1, JUN, MMP3
33retinoid447.8JUN, IVL, KRT1, TP53, MMP1, FLG
34calcitriol44 60 24 1110.7FLG, IVL, FGF2, MMP1, RXRA, IGFBP3
35creatinine447.7TGFB1, IGFBP3, MMP1, MMP3, SAA4, HMGB1
36vegf447.6CDKN2A, ARG1, TGFB1, TP53, IVL, FGF2
37thymidine44 248.6RXRA, TP53, FGF2, IGFBP3, TGFB1, JUN
38testosterone44 60 24 1110.5RXRA, MMP1, HMGB1, GHRH, KRT1, GGT1
39glutamate447.4GGT1, IGFBP3, ARG1, FBN1, RXRA, MMP3
40progesterone44 28 60 24 1111.4RXRA, TP53, HMGB1, IGFBP3, FBN1, CDKN2A
41steroid447.3IVL, HMGB1, FLG, IGFBP3, RXRA, SAA4
42cysteine447.1GGT1, CDKN2A, IGFBP3, HMGB1, COL7A1, MMP1
43cholesterol44 28 24 119.8SAA4, IGFBP3, RXRA, MMP3, IVL, GGT1
44glucose446.7IVL, RXRA, CDKN2A, GGT1, GHRH, IGFBP3
45calcium44 50 24 119.6SAA4, IVL, RXRA, GHRH, FLG, FBN1
46lipid446.5GGT1, IVL, RXRA, FLG, MMP3, SAA4
47estrogen445.8IGFBP3, FGF2, CDKN2A, KRT1, GHRH, MMP1
48retinoic acid44 246.8CDKN2A, IGFBP3, IVL, KRT1, HMGB1, MMP1
49dexamethasone44 50 28 118.6IGFBP3, IVL, TGFB1, JUN, RXRA, MMP3
50serine444.6MMP3, MMP1, GHRH, COL7A1, HMGB1, KRT1

GO Terms for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Cellular components related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.3MMP1, MMP3, TGFB1, FBN1
2extracellular spaceGO:00056157.5FGF2, IGFBP3, FBN1, TGFB1, MMP3, GHRH
3extracellular regionGO:00055767.0IGFBP3, FBN1, TGFB1, MMP3, MMP1, SAA4

Biological processes related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1cellular response to dexamethasone stimulusGO:007154910.1ARG1, TGFB1
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.1IGFBP3, GHRH
3SMAD protein import into nucleusGO:000718410.1JUN, TGFB1
4collagen catabolic processGO:003057410.0COL7A1, MMP1, MMP3
5negative regulation of neuroblast proliferationGO:000740610.0TGFB1, TP53
6replicative senescenceGO:009039910.0TP53, CDKN2A
7positive regulation of histone deacetylationGO:00310659.9TGFB1, TP53
8positive regulation of endothelial cell proliferationGO:00019389.9JUN, FGF2, ARG1
9negative regulation of blood vessel endothelial cell migrationGO:00435379.9TGFB1, FGF2
10extracellular matrix disassemblyGO:00226179.9MMP1, FBN1, MMP3, COL7A1
11hyaluronan catabolic processGO:00302149.9FGF2, TGFB1
12positive regulation of cell cycle arrestGO:00711589.8TP53, TGFB1, CDKN2A
13Ras protein signal transductionGO:00072659.8FGF2, CDKN2A, TP53
14positive regulation of blood vessel endothelial cell migrationGO:00435369.7TGFB1, FGF2
15negative regulation of DNA replicationGO:00081569.7TGFB1, TP53
16negative regulation of cell growthGO:00303089.4TGFB1, FGF2, TP53, CDKN2A
17modulation by virus of host morphology or physiologyGO:00190489.4RXRA, TGFB1
18transforming growth factor beta receptor signaling pathwayGO:00071799.3TGFB1, TP53, JUN
19extracellular matrix organizationGO:00301989.2TGFB1, MMP3, MMP1, COL7A1, FGF2, FBN1
20cell cycle arrestGO:00070509.1TGFB1, CDKN2A, TP53
21negative regulation of transcription, DNA-templatedGO:00458929.1CDKN2A, FGF2, JUN, TP53, TGFB1
22positive regulation of apoptotic processGO:00430659.1IGFBP3, TP53, TGFB1, HMGB1
23positive regulation of transcription, DNA-templatedGO:00458939.1CDKN2A, FGF2, JUN, TP53, TGFB1
24negative regulation of cell proliferationGO:00082858.8FGF2, CDKN2A, TGFB1, TP53, IGFBP3, JUN
25positive regulation of transcription from RNA polymerase II promoterGO:00459447.8RXRA, TP53, TGFB1, JUN, HMGB1, CDKN2A

Molecular functions related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MDM2/MDM4 family protein bindingGO:00973719.5TP53, CDKN2A
2transcription factor bindingGO:00081348.9CDKN2A, HMGB1, JUN, TP53
3protein bindingGO:00055155.7FGF2, IGFBP3, FBN1, TP53, TGFB1, JUN

Sources for Recessive Dystrophic Epidermolysis Bullosa

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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33MeSH
34MESH via Orphanet
35MGI
38NCI
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40NDF-RT
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