MCID: RCS002
MIFTS: 41

Recessive Dystrophic Epidermolysis Bullosa malady

Skin diseases category

Summaries for Recessive Dystrophic Epidermolysis Bullosa

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 squamous cell carcinoma. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are TGF-Beta Pathway and Rheumatoid arthritis. The compounds cycloheximide and pge2 have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

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20GeneTests, 22GTR, 60UMLS
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Classifications:

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


Aliases & Descriptions:

recessive dystrophic epidermolysis bullosa 20 22
hallopeau-siemens disease 60


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 182)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.3FLG, COL7A1
2squamous cell carcinoma31.5COL7A1, JUN, ARG1, FLG, IVL, CDKN2A
3amyloidosis30.7SAA4
4glomerulonephritis30.7TGFB1
5dilated cardiomyopathy30.5FBN1, MMP1
6epidermolysis bullosa simplex30.5KRT1, IVL, FLG
7basal cell carcinoma30.5IVL, MMP3, MMP1, TP53
8osteoporosis30.4JUN, IGFBP3, MMP3, TGFB1
9melanoma30.4JUN, CDKN2A, FGF2, MMP1, TP53, TGFB1
10breast cancer30.4JUN, RXRA, GHRH, IVL, IGFBP3, CDKN2A
11severe generalized recessive dystrophic epidermolysis bullosa10.9
12esophagitis10.9
13recessive dystrophic epidermolysis bullosa, generalized, other10.7
14epidermolysis bullosa dystrophica, ar10.7
15centripetalis recessive dystrophic epidermolysis bullosa10.6
16chronic ulcer of skin10.3
17marfan syndrome10.3
18iga glomerulonephritis10.3
19x-linked ichthyosis10.3
20enamel caries10.3
21junctional epidermolysis bullosa10.3
22hypercalcemia10.3
23hidrocystoma10.3
24collagen disease10.3
25dental caries10.3
26nephrotic syndrome10.3
27peritonitis10.3
28scleroderma10.3
29dwarfism10.3
30epidermolysis bullosa pruriginosa10.0COL7A1
31gingivitis10.0MMP1
32oral submucous fibrosis10.0MMP1
33keratoacanthoma10.0IVL
34dementia10.0MMP3
35chordoma10.0KRT1
36cholangitis10.0GGT1
37deficiency anemia10.0GHRH
38myopia 610.0FBN1
39hyperprolactinemia10.0GHRH
40mitral valve prolapse10.0FBN1
41aortic aneurysm10.0FBN1
42smooth muscle tumor10.0IVL
43cataract10.0MMP3
44moyamoya disease10.0FGF2
45atopic dermatitis10.0FLG
46myeloma10.0FGF2
47kindler syndrome10.0COL7A1
48bullous keratopathy10.0FBN1
49gastric ulcer10.0FGF2
50cutis laxa10.0FBN1

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



Diseases related to recessive dystrophic epidermolysis bullosa

Clinical Features for Recessive Dystrophic Epidermolysis Bullosa

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Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Recessive Dystrophic Epidermolysis Bullosa

Drug clinical trials:

Search ClinicalTrials for Recessive Dystrophic Epidermolysis Bullosa

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

32
Skin

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1FGF2, RXRA
2MP:00053798.8JUN, FBN1, GHRH, CDKN2A, TP53, TGFB1
3MP:00053908.3COL7A1, RXRA, FBN1, FGF2, MMP3, GGT1
4MP:00053828.2RXRA, FBN1, FLG, TP53, TGFB1, COL7A1
5MP:00053898.1RXRA, FBN1, GHRH, CDKN2A, TP53, TGFB1
6MP:00053767.9GGT1, RXRA, ARG1, FBN1, FLG, GHRH
7MP:00053707.7JUN, RXRA, ARG1, GHRH, IGFBP3, CDKN2A
8MP:00053697.6RXRA, FBN1, IGFBP3, CDKN2A, FGF2, TP53
9MP:00107717.2COL7A1, JUN, RXRA, FBN1, CDKN2A, KRT1
10MP:00036317.1JUN, RXRA, ARG1, FBN1, GHRH, CDKN2A
11MP:00053976.8FBN1, ARG1, RXRA, JUN, FLG, CDKN2A
12MP:00053876.6JUN, RXRA, ARG1, FBN1, FLG, GHRH
13MP:00053786.5FBN1, RXRA, JUN, COL7A1, FLG, GHRH
14MP:00107686.3FBN1, ARG1, RXRA, JUN, COL7A1, FLG

Publications for Recessive Dystrophic Epidermolysis Bullosa

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Genetic Variations for Recessive Dystrophic Epidermolysis Bullosa

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Expression for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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1BioGPS, 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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51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore
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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3GHRH
210.1JUN
39.9CDKN2A, IGFBP3
4
Hide members
9.5COL7A1, FBN1, GHRH, FGF2
59.5JUN, MMP1, TP53
69.4TP53, CDKN2A, JUN
79.4JUN, CDKN2A, TP53
8
Hide members
9.4CDKN2A, TP53, TGFB1
9
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9.4TGFB1, TP53, CDKN2A
109.4JUN, IVL, MMP1
119.3TGFB1, RXRA
12
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9.2COL7A1, FBN1, FGF2, MMP3, MMP1
13
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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9.2JUN, MMP3, MMP1, TP53
14
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9.2COL7A1, JUN, FBN1, MMP3, MMP1
15
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9.1JUN, FGF2, TP53, TGFB1
16
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8.9KRT1, CDKN2A, IVL, GHRH, JUN
17
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8.8TP53, DAPK3, RXRA
188.7JUN, IGFBP3, CDKN2A, TP53, TGFB1
198.7TP53, MMP3, IGFBP3, RXRA
20
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8.1COL7A1, JUN, FBN1, GHRH, CDKN2A, FGF2
21
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8.0JUN, GHRH, CDKN2A, FGF2, MMP3, MMP1
227.9JUN, RXRA, IGFBP3, FGF2, TP53, TGFB1
23
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7.3JUN, RXRA, GHRH, CDKN2A, FGF2, DAPK3
247.2TGFB1, JUN, RXRA, CDKN2A, FGF2, DAPK3

Compounds for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.7GHRH
2pge24410.5TGFB1
3estrogen4410.4IVL
4sodium dodecylsulfate449.8KRT1, IVL, FBN1
5clonidine44 28 1111.7GHRH, IGFBP3, FGF2
6infliximab44 49 1111.6MMP1, MMP3, FGF2, FLG
7gold449.5FBN1, GHRH, IVL, MMP3
8paclitaxel44 49 1111.3TGFB1, TP53, CDKN2A, IGFBP3
9glutamate449.2RXRA, ARG1, FBN1, GHRH
10tamoxifen44 49 28 1112.2TGFB1, GGT1, GHRH, JUN
11hematoxylin449.1FLG, IVL, CDKN2A, MMP3, MMP1, KRT1
12gf 109203x44 5910.1JUN, FLG, IVL, FGF2, MMP1
13arsenite44 2410.1CDKN2A, GGT1, TP53, TGFB1
14vitamin a44 11 2411.1MMP1, FGF2, RXRA
15tgf beta1449.1FBN1, IGFBP3, FGF2, MMP3, MMP1, TGFB1
16cyclosporin a44 28 5911.1JUN, IVL, IGFBP3, FGF2, MMP1
17doxycycline44 1110.1MMP1, MMP3, FGF2, CDKN2A
18bromodeoxyuridine449.1FLG, IVL, FGF2, KRT1, TGFB1
19paraffin449.0IVL, FGF2, MMP3, MMP1, KRT1, TGFB1
20valine449.0COL7A1, ARG1, IGFBP3, CDKN2A, KRT1, GGT1
21thyroxine44 249.8GHRH, IGFBP3, FGF2, GGT1, TGFB1
22urea44 11 2410.8ARG1, FLG, GHRH, IVL, MMP3, GGT1
23betacarotene448.8IVL, IGFBP3, MMP1, GGT1, TGFB1
24chloramphenicol44 2 1110.7COL7A1, RXRA, IVL, IGFBP3, CDKN2A
25ascorbic acid44 249.6FBN1, FLG, IGFBP3, FGF2, MMP3, MMP1
26pd 98,059448.6JUN, IVL, FGF2, MMP3, MMP1, TGFB1
27n acetylcysteine448.6JUN, CDKN2A, MMP3, MMP1, GGT1, TP53
28hyaluronic acid44 249.5FBN1, IGFBP3, FGF2, MMP3, MMP1, GGT1
29glucose448.5SAA4, GHRH, IVL, IGFBP3, CDKN2A
30sb 20358044 599.4JUN, IVL, FGF2, MMP3, MMP1, TP53
31vitamin d448.4JUN, RXRA, GHRH, IVL, IGFBP3, MMP3
32methotrexate44 49 1110.3IVL, IGFBP3, CDKN2A, MMP3, MMP1, GGT1
33retinoid448.2JUN, RXRA, FLG, IVL, IGFBP3, MMP1
34steroid448.2RXRA, SAA4, FLG, GHRH, IGFBP3, CDKN2A
35creatinine448.1SAA4, IGFBP3, CDKN2A, MMP3, MMP1, GGT1
36nicotine44 49 28 1111.1FLG, IVL, CDKN2A, FGF2, MMP1, KRT1
3712-o-tetradecanoylphorbol 13-acetate448.1JUN, RXRA, IVL, MMP3, MMP1, KRT1
38dexamethasone44 49 28 1111.0JUN, RXRA, GHRH, CDKN2A, FGF2, GGT1
39arginine447.9FLG, FBN1, ARG1, COL7A1, GHRH, IGFBP3
40progesterone44 59 28 11 2411.8RXRA, FBN1, GHRH, IGFBP3, CDKN2A, MMP3
41curcumin447.8JUN, IVL, IGFBP3, MMP3, MMP1, GGT1
42calcitriol44 59 11 2410.8JUN, RXRA, FLG, IVL, IGFBP3, FGF2
43testosterone44 59 11 2410.7RXRA, GHRH, IGFBP3, CDKN2A, MMP1, KRT1
44thymidine44 248.7JUN, RXRA, IVL, IGFBP3, FGF2, TP53
45vegf447.6JUN, ARG1, IVL, IGFBP3, CDKN2A, FGF2
46cysteine447.6COL7A1, JUN, FBN1, FLG, IVL, IGFBP3
47cholesterol44 28 11 2410.2RXRA, SAA4, GHRH, IVL, IGFBP3, CDKN2A
48lipid446.9RXRA, SAA4, FBN1, FLG, GHRH, IVL
49serine446.5TGFB1, COL7A1, JUN, RXRA, FBN1, FLG
50retinoic acid44 247.3JUN, RXRA, FBN1, FLG, IVL, IGFBP3

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:0055789.3TGFB1, MMP1, MMP3, FBN1
2extracellular spaceGO:0056158.3ARG1, FBN1, GHRH, IGFBP3, FGF2, MMP3
3extracellular regionGO:0055767.7TGFB1, COL7A1, SAA4, FBN1, GHRH, IGFBP3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to dexamethasone stimulusGO:07154910.1ARG1, TGFB1
2collagen catabolic processGO:0305749.9COL7A1, MMP3, MMP1
3SMAD protein import into nucleusGO:0071849.9JUN, TGFB1
4positive regulation of endothelial cell proliferationGO:0019389.9FGF2, ARG1, JUN
5positive regulation of histone deacetylationGO:0310659.9TP53, TGFB1
6negative regulation of neuroblast proliferationGO:0074069.9TP53, TGFB1
7extracellular matrix disassemblyGO:0226179.9MMP1, MMP3, COL7A1
8positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.8IGFBP3, GHRH
9negative regulation of blood vessel endothelial cell migrationGO:0435379.8TGFB1, FGF2
10replicative senescenceGO:0903999.8CDKN2A, TP53
11positive regulation of cell cycle arrestGO:0711589.7TGFB1, TP53, CDKN2A
12Ras protein signal transductionGO:0072659.6TP53, FGF2, CDKN2A
13hyaluronan catabolic processGO:0302149.5TGFB1, FGF2
14negative regulation of cell growthGO:0303089.4CDKN2A, FGF2, TP53, TGFB1
15extracellular matrix organizationGO:0301989.2TGFB1, MMP1, MMP3, FGF2, FBN1, COL7A1
16negative regulation of transcription, DNA-dependentGO:0458929.0JUN, CDKN2A, FGF2, TP53, TGFB1
17positive regulation of transcription, DNA-dependentGO:0458939.0JUN, CDKN2A, FGF2, TP53, TGFB1
18negative regulation of cell proliferationGO:0082858.8JUN, IGFBP3, CDKN2A, FGF2, TP53, TGFB1
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.2JUN, RXRA, CDKN2A, FGF2, TP53, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1MDM2/MDM4 family protein bindingGO:0973719.8TP53, CDKN2A

Products for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Sources for Recessive Dystrophic Epidermolysis Bullosa

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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