MCID: CLL015
MIFTS: 59

Collagen Disease malady

Summaries for Collagen Disease

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63Wikipedia, 32MalaCards
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Wikipedia:63 Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid... more...

MalaCards: Collagen Disease, also known as collagen diseases, is related to lupus erythematosus and skin disease. An important gene associated with Collagen Disease is SFTPD (surfactant protein D), and among its related pathways are Platelet Adhesion to exposed collagen and Protein digestion and absorption. The drugs prednisolone and prednisone and the compounds procollagen and pge2 have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related mouse phenotypes are nervous system and skeleton.

Aliases & Classifications for Collagen Disease

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

collagen disease 8 10
collagen diseases 44 60
collagen disorder 8


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Disease Ontology8 DOID:854
MeSH34 D003095
NCIt39 C27204

Related Diseases for Collagen Disease

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17GeneCards, 18GeneDecks
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Diseases in the Collagen Disease family:

Collagen Type Vi-Related Disorders

Diseases related to Collagen Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 235)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.5THBD, APOH
2skin disease30.3IL2RA
3systemic lupus erythematosus30.3RPL7, LSM2, MBL2, APOH, CTLA4, FGA
4hypertension30.1NPPA
5vascular disease30.1APOH, FGF2, VWF, THBD, ELN
6hepatitis30.0CTLA4
7ischemia30.0FGF2, FGA
8connective tissue disease29.9COL2A1, COL1A1, SFTPD, APOH, CD36, RNPC3
9diabetes mellitus29.9NPPA, CTLA4, CD36, FGA, VWF, THBD
10osteogenesis imperfecta29.7COL2A1, COL1A1, CD36
11dermatomyositis29.7SFTPD
12glomerulonephritis29.7MBL2
13hypothyroidism29.7VWF, CTLA4
14pneumonia29.7SFTPD, MBL2, FGA
15eosinophilia29.7IL2RA, MBL2
16liver cirrhosis29.7NPPA, FGA
17disseminated intravascular coagulation29.7THBD, FGA
18mixed connective tissue disease29.7RNPC3, APOH, LSM2
19pulmonary fibrosis29.7ELN, CD36, SFTPD, COL1A1
20ehlers-danlos syndrome29.7COL2A1, COL1A1, CD36, ELN
21arthritis29.7IL18R1, FGF2, CTLA4, COL2A1
22uveitis29.7CTLA4, RNPC3, IL2RA, IL18R1
23primary biliary cirrhosis29.7MBL2, CTLA4, RNPC3, KRT19
24asthma29.7SFTPD, MBL2, CTLA4, IL2RA, IL18R1
25vasculitis29.7FGA, CTLA4, APOH, MBL2, VWF, THBD
26coronary artery disease29.7MBL2, HTR3A, NPPA, FGA, VWF, THBD
27leukemia29.7MBL2, HTR3A, FGA, FGF2, IL2RA, IL18R1
28rheumatoid arthritis29.7COL2A1, RPL7, SFTPD, MBL2, APOH, CTLA4
29atherosclerosis29.7MBL2, HTR3A, APOH, CD36, FGA, FGF2
30disseminated eosinophilic collagen disease10.3
31liver disease10.1
32alpha-2 deficient collagen disease10.1
33rheumatic fever10.1
34nasopharyngitis10.0
35agammaglobulinemia10.0
36nasopharyngeal disease10.0
37scleroderma10.0
38pulmonary disease, chronic obstructive10.0SFTPD
39peritonitis10.0IL18R1
40obesity10.0SFTPD
41blindness10.0COL2A1
42kawasaki disease10.0MBL2
43eclampsia10.0THBD
44cerebrovascular disease10.0APOH
45sarcoma10.0IL18R1
46retinal detachment10.0COL2A1
47aortic valve stenosis10.0ELN
48deficiency anemia10.0VWF
49diarrhea10.0HTR3A
50wilms tumor10.0IL18R1

Graphical network of the top 20 diseases related to Collagen Disease:



Diseases related to collagen disease

Clinical Features for Collagen Disease

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Drugs & Therapeutics for Collagen Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Collagen Disease

Drug clinical trials:

Search ClinicalTrials for Collagen Disease

Search NIH Clinical Center for Collagen Disease

Search CenterWatch for Collagen Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Collagen Disease

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Anatomical Context for Collagen Disease

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32MalaCards
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MalaCards organs/tissues related to Collagen Disease:

32
Bone, Skin, Liver, Kidney, Lung, Heart, Endothelial, Smooth muscle, Colon, T cells, Skeletal muscle, Testes, Eye, B cells, Bone marrow, Brain, Pancreas, Salivary gland, Nk cells

Animal Models for Collagen Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Collagen Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.3KRT19, FGA, HTR3A, COL2A1, COL1A1
2MP:00053909.1KRT19, FGF2, FGA, CD36, COL2A1
3MP:00053708.9FGA, CD36, CTLA4, COL2A1, COL1A1, THBD
4MP:00053858.9COL2A1, COL1A1, NPPA, CTLA4, KRT19, CD36
5MP:00053818.4IL2RA, KRT19, THBD, VWF, FGA, CD36
6MP:00053878.2HTR3A, SFTPD, COL1A1, COL2A1, CTLA4, CD36
7MP:00053978.1MBL2, FGA, COL1A1, SFTPD, THBD, FGF2
8MP:00053767.8MBL2, APOH, ELN, THBD, VWF, FGF2
9MP:00107687.6FGA, FGF2, IL2RA, VWF, CD36, CTLA4

Publications for Collagen Disease

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50PubMed
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Articles related to Collagen Disease:

(show top 50)    (show all 485)
idTitleAuthorsYear
1
Surgical therapy of Peyronie's disease by partial plaque excision and grafting with collagen fleece: feasibility study of a new technique. (23446807)
2013
2
Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases. (20724381)
2011
3
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. (21157337)
2011
4
CEL-2000: A therapeutic vaccine for rheumatoid arthritis arrests disease development and alters serum cytokine/chemokine patterns in the bovine collagen type II induced arthritis in the DBA mouse model. (20074669)
2010
5
Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. (19398442)
2009
6
Defining clinical criteria for clinical remission and disease activity in collagenous colitis. (19504614)
2009
7
Differing distributions of CXCR3- and CCR4-positive cells among types of interstitial pneumonia associated with collagen vascular diseases. (17124600)
2007
8
Relationships in Alzheimer's disease between the extent of Abeta deposition in cerebral blood vessel walls, as cerebral amyloid angiopathy, and the amount of cerebrovascular smooth muscle cells and collagen. (16640651)
2006
9
Myofibroblasts and hyalinized collagen as markers of skin disease in systemic sclerosis. (17075814)
2006
10
The use of collagen-derived serum peptides for the clinical assessment of hypertensive heart disease. (16003166)
2005
11
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)
2005
12
Reduced expression of collagen type I and increased expression of matrix metalloproteinases 1 in patients with Crohn's disease. (15804950)
2005
13
Collagenous colitis as the presenting feature of biopsy-defined celiac disease. (15319648)
2004
14
Application of collagen-binding assay for von Willebrand disease]. (14981837)
2004
15
BP180 (type XVII collagen) and its role in cutaneous biology and disease. (14626817)
2003
16
Type-IV collagen related diseases. (12768082)
2003
17
Tyrosinemia I, a model for human diseases mediated by 2-oxoacid-utilizing dioxygenases: hepatotoxin suppression by NTBC does not normalize hepatic collagen metabolism. (12142814)
2002
18
Von Willebrand factor collagen-binding (activity) assay in the diagnosis of von Willebrand disease: a 15-year journey. (11992242)
2002
19
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. (11826020)
2002
20
The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen. (12060403)
2002
21
Type I collagen degradation does not diminish with RA disease duration. (11247878)
2001
22
A family with collagenous colitis, ulcerative colitis, and Crohn's disease. (11151908)
2000
23
Increased gelsolin expression and retarded collagen lattice contraction with smooth muscle cells from Crohn's diseased intestine. (10623895)
2000
24
Clinical significance of ventilation/perfusion scans in collagen disease patients. (11210092)
2000
25
Stimulation of collagen production in an in vitro model for Peyronie's disease. (10467520)
1999
26
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. (9643297)
1998
27
Immunolocalization of collagen and collagen-binding heat shock protein 47 in fibrotic lung diseases. (9872649)
1998
28
Immunohistochemical study of myofibroblast and S-100 protein positive cells in interstitial pneumonia associated with collagen vascular disease]. (9128418)
1997
29
Immunological changes in hydroxyurea-induced collagen disease. (7947215)
1994
30
IgG autoantibody to the collagen-like region of Clq in hypocomplementemic urticarial vasculitis syndrome, systemic lupus erythematosus, and 6 other musculoskeletal or rheumatic diseases. (1404125)
1992
31
Prostaglandin E1 in pulmonary hypertension of collagen disease. (3621967)
1987
32
Type II collagen mediated autoimmune middle ear disease: eustachian tube disease, otitis media with effusion and tympanosclerosis. (3835948)
1985
33
Collagen heterogeneity in systemic scleroderma and other diseases. (479767)
1979
34
Clinicopathologic conference: Disseminated eosinophilic collagen disease. (4812077)
1974
35
Thrombophlebitis migrans. An unusual presentation as a collagen vascular disease--report of a case. (4147715)
1973
36
Electrodiagnostic studies in collagen disease. (5263782)
1970
37
The lanthanic or undifferentiated collagen disease. (5375831)
1969
38
Rheumatic fever as a collagen disease. (5292172)
1968-1969
39
Disseminated eosinophilic collagen disease. (6023068)
1967
40
EOSINOPHILIC LEUKEMIA AND DISSEMINATED EOSINOPHILIC COLLAGEN DISEASE--A DISEASE ENTITY? (14279494)
1965
41
COLLAGEN DISEASE ASSOCIATED WITH INTESTINAL MALABSORPTION AND SPRUE-LIKE CHANGES IN THE INTESTINAL MUCOSA. (14110642)
1964
42
COLLAGEN DISEASE IN CHILDREN; DIFFERENTIAL DIAGNOSIS. (14108910)
1963
43
NATURE OF COLLAGEN DISEASE, PARTICULARLY OF SYSTEMIC LUPUS ERYTHEMATOSUS (SLE), WITH SPECIAL REFERENCE TO RENAL LESION. (14063659)
1963
44
What does the idea of collagen disease bring to the practitioner]. (13599689)
1958
45
A contribution to the study of collagen disease and the L.E. phenomenon. (13450738)
1957
46
Keratoconjunctivitis sicca and the collagen diseases. (13355946)
1956
47
Collagen disease in patients with congenital agammaglobulinemia. (13380950)
1956
48
Rheumatic fever as a collagen disease. (13229241)
1954
49
Scleromalacia; clinical and pathologic study of a case with consideration of differential diagnosis, relationship of collagen disease, and effect of ACTH and cortisone therapy. (14933541)
1952
50
Vascular diseases due to hypersensitivity; so-called diffuse collagen disease. (15404107)
1950

Genetic Variations for Collagen Disease

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Expression for genes affiliated with Collagen Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Collagen Disease

Search GEO for disease gene expression data for Collagen Disease.

Pathways for genes affiliated with Collagen Disease

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53Reactome, 29KEGG, 52R&D Systems, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 51QIAGEN
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Compounds for genes affiliated with Collagen Disease

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Collagen Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1procollagen4410.6COL2A1
2pge24410.5COL1A1
3estrogen4410.4MBL2, APOH, ELN
4phosphatidylserine44 28 1112.4APOH, CD36
5hydroxylysine4410.2ELN, SFTPD, COL1A1, COL2A1
611-dehydrothromboxane b24410.1THBD, VWF, FGA, APOH
7dermatan sulfate4410.0FGF2, VWF, THBD, ELN
8warfarin44 49 11 2412.9VWF, APOH, FGA, FGF2
9hydroxyproline44 11 2411.9COL1A1, ELN, COL2A1, CD36, SFTPD
106-ketoprostaglandin f1alpha449.9APOH, NPPA, FGA, VWF, THBD
11ivig449.8APOH, ELN, VWF, IL18R1, IL2RA
12thromboxane44 2410.8VWF, HTR3A, APOH, FGA, THBD
13agarose449.8APOH, THBD, SFTPD, MBL2, COL2A1, VWF
14infliximab44 49 1111.8IL18R1, APOH, CTLA4, IL2RA, FGF2
15aspartate449.7ELN, COL2A1, COL1A1, MBL2, KRT19
16dexamethasone44 49 28 1112.7SFTPD, FGF2, CTLA4, COL2A1, COL1A1, HTR3A
17betacarotene449.7THBD, ELN, APOH, VWF, CD36, IL2RA
18heparin44 28 11 2412.7FGA, ELN, IL18R1, IL2RA, CD36, APOH
19pge1449.7VWF, APOH, NPPA, FGA, THBD
20losartan44 49 28 1112.7THBD, ELN, VWF, CD36, NPPA
21glycosaminoglycan449.6COL2A1, ELN, THBD, FGF2, CD36, COL1A1
22alginate449.6COL2A1, FGF2, CD36, ELN
23mycophenolate mofetil44 49 1111.6IL2RA, CTLA4, CD36, THBD
24fitc449.6IL2RA, VWF, THBD, KRT19
25thalidomide44 49 59 1112.5IL2RA, CTLA4, THBD, CD36, FGF2, IL18R1
26phosphatidylcholine449.5ELN, THBD, IL2RA, FGF2, SFTPD, MBL2
27polysaccharide449.4THBD, IL18R1, IL2RA, FGF2, MBL2, SFTPD
28prostacyclin449.4THBD, VWF, FGF2, APOH, FGA, NPPA
29histamine44 28 2411.4VWF, THBD, IL2RA, FGA, HTR3A, SFTPD
30ascorbic acid44 2410.3FGF2, COL2A1, IL2RA, ELN, THBD, VWF
31prednisolone44 28 1111.3FGF2, APOH, IL18R1, VWF, MBL2, SFTPD
32carbohydrates449.3ELN, KRT19, THBD, MBL2, FGF2, VWF
33hyaluronic acid44 2410.3CD36, FGF2, VWF, THBD, KRT19, ELN
34fibrinogen449.3KRT19, ELN, THBD, VWF, FGA, APOH
35vitamin d449.3ELN, COL1A1, COL2A1, IL2RA, CD36, CTLA4
36lactate449.1ELN, VWF, THBD, SFTPD, APOH, KRT19
37creatinine449.1APOH, NPPA, CD36, FGA, THBD, KRT19
38paraffin449.0ELN, MBL2, CD36, FGF2, IL2RA, VWF
39steroid449.0CTLA4, IL2RA, IL18R1, SFTPD, KRT19, THBD
40cyclosporin a44 28 5911.0VWF, IL18R1, IL2RA, RNPC3, FGF2, NPPA
41thymidine44 2410.0CTLA4, SFTPD, COL1A1, FGF2, FGA, IL2RA
42nitric oxide44 11 2410.9NPPA, SFTPD, COL2A1, MBL2, VWF, THBD
43zinc44 249.8COL1A1, APOH, COL2A1, IL18R1, LSM2, MBL2
44cysteine448.7COL1A1, COL2A1, ELN, CTLA4, SFTPD, MBL2
45retinoic acid44 249.7COL2A1, COL1A1, CD36, FGF2, IL18R1, VWF
46serine448.7FGF2, IL18R1, CTLA4, FGA, LSM2, RNPC3
47alanine448.5CTLA4, THBD, IL18R1, FGF2, COL2A1, COL1A1
48arginine448.5ELN, THBD, VWF, IL18R1, IL2RA, RNPC3
49vegf448.2CD36, ELN, KRT19, APOH, IL18R1, IL2RA
50calcium44 49 11 2410.9NPPA, COL1A1, RNPC3, SFTPD, ELN, KRT19

GO Terms for genes affiliated with Collagen Disease

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16Gene Ontology
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Cellular components related to Collagen Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:03109110.0VWF, FGA
2external side of plasma membraneGO:0098979.3VWF, IL2RA, FGA, CD36, CTLA4
3cell surfaceGO:0099869.2MBL2, APOH, CD36, FGA, THBD
4extracellular spaceGO:0056158.9SFTPD, APOH, NPPA, FGA, FGF2, COL1A1
5extracellular regionGO:0055768.5ELN, COL2A1, VWF, FGF2, FGA, NPPA

Biological processes related to Collagen Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cartilage development involved in endochondral bone morphogenesisGO:06035110.2COL2A1, COL1A1
2negative regulation of fibrinolysisGO:05191810.2APOH, THBD
3negative regulation of blood coagulationGO:03019510.1APOH, THBD
4positive regulation of blood coagulationGO:03019410.0APOH, CD36
5platelet degranulationGO:0025769.8FGA, CD36, VWF
6platelet activationGO:0301689.8COL1A1, CD36, FGA, VWF
7blood coagulationGO:0075969.6CD36, THBD, VWF, FGA, COL1A1
8extracellular matrix organizationGO:0301989.3FGF2, COL2A1, ELN, COL1A1

Molecular functions related to Collagen Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.1COL1A1, COL2A1
2protein bindingGO:0055157.1ELN, COL1A1, RPL7, SFTPD, LSM2, MBL2

Products for genes affiliated with Collagen Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Collagen Disease

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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