MCID: CLL015
MIFTS: 49

Collagen Disease malady

Genetic diseases (common) category

Summaries for Collagen Disease

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 diabetes mellitus and uveitis. An important gene associated with Collagen Disease is IL18R1 (interleukin 18 receptor 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Cell adhesion ECM remodeling. The drugs prednisolone and prednisone and the compounds infliximab and ethylenediaminetetraacetic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and endothelial, and related mouse phenotypes are cardiovascular system and hematopoietic system.

Aliases & Classifications for Collagen Disease

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

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


Aliases & Descriptions:

collagen disease 9 11
collagen diseases 46 63
collagen disorder 9


External Ids:

Disease Ontology9 DOID:854
MeSH36 D003095
NCIt41 C27204

Related Diseases for Collagen Disease

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Sources:
18GeneCards, 19GeneDecks
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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 107)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus29.9FGA, NPPA, CTLA4
2uveitis29.8CTLA4, IL18R1
3polymyositis29.8CTLA4, SFTPD
4vasculitis29.8CTLA4, FGA
5connective tissue disease29.7COL2A1, SFTPD
6essential hypertension29.7NPPA, FGA
7pneumonia29.7SFTPD, FGA
8arthropathy29.7COL2A1, CTLA4
9asthma29.7IL18R1, SFTPD, CTLA4
10arthritis29.7IL18R1, COL2A1, CTLA4
11rheumatoid arthritis29.6COL2A1, CTLA4, IL18R1, SFTPD
12lupus erythematosus10.3
13disseminated eosinophilic collagen disease10.2
14systemic lupus erythematosus10.2
15alpha-2 deficient collagen disease10.1
16sarcoidosis10.0IL18R1, SFTPD
17septic shock10.0FGA, IL18R1
18rheumatic fever10.0
19hypertension10.0
20liver disease10.0
21scleroderma10.0
22allergic rhinitis10.0CTLA4, IL18R1
23b-cell chronic lymphocytic leukemia10.0CTLA4, IL18R1
24mitral valve stenosis10.0FGA, NPPA
25allergic asthma10.0SFTPD, CTLA4
26primary pulmonary hypertension10.0FGA, NPPA
27chronic lymphocytic leukemia10.0IL18R1, CTLA4
28nephrotic syndrome10.0FGA, NPPA
29dwarfism10.0IL18R1, COL2A1
30dilated cardiomyopathy10.0FGA, NPPA
31coronary artery disease10.0IL18R1, FGA
32acute myocardial infarction10.0NPPA, FGA
33immunodeficiency with hyper igm type 210.0FGA, IL18R1, SFTPD
34sepsis10.0FGA, SFTPD, IL18R1
35liver cirrhosis10.0NPPA, FGA
36rheumatic disease10.0COL2A1, CTLA4
37non-small cell lung carcinoma10.0SFTPD, FGA, IL18R1
38systemic scleroderma10.0SFTPD, CTLA4, FGA
39lung cancer10.0SFTPD, CTLA4, IL18R1
40primary hyperoxaluria10.0NPPA, IL18R1
41type 1 diabetes mellitus10.0NPPA, IL18R1, CTLA4
42cerebrovascular disease10.0FGA, IL18R1, NPPA
43skin disease10.0IL18R1, SFTPD
44pre-eclampsia10.0NPPA, CTLA4, FGA
45nasopharyngitis10.0
46agammaglobulinemia10.0
47hepatitis10.0
48ischemia10.0
49periarteritis nodosa10.0
50endotheliitis10.0

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



Diseases related to collagen disease

Symptoms for Collagen Disease

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Drugs & Therapeutics for Collagen Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Collagen Disease

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Anatomical Context for Collagen Disease

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34MalaCards
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MalaCards organs/tissues related to Collagen Disease:

34
Skin, Liver, Endothelial, Eye, Skeletal muscle, Lung, Testes

Animal Models for Collagen Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Collagen Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0FGA, CTLA4, NPPA, COL2A1
2MP:00053977.8FGA, CTLA4, NPPA, IL18R1, SFTPD
3MP:00053877.4SFTPD, IL18R1, COL2A1, CTLA4, FGA

Publications for Collagen Disease

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53PubMed
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Articles related to Collagen Disease:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Spontaneous rupture of autogenous saphenous vein graft in bypass surgery for peripheral arterial disease possibly associated with collagen disease. (22944580)
2012
2
Left ventricular myocardial ischemia in collagen disease associated with pulmonary hypertension: an evaluation by rest-stress gated SPECT and coronary angiography. (21597395)
2011
3
Genetics of autoimmune and collagen diseases]. (19507500)
2009
4
New aspect of anti-inflammatory action of lipo-prostaglandinE1 in the management of collagen diseases-related skin ulcer. (18461292)
2008
5
Aluminum foil treatment combined with basic fibroblast growth factor (bFGF) for gangrene of the fingertip caused by collagen disease. (16320409)
2005
6
The liver in collagen diseases: pathologic study of 160 cases with particular reference to hepatic arteritis, primary biliary cirrhosis, autoimmune hepatitis and nodular regenerative hyperplasia of the liver. (11092254)
2000
7
Genetic basis of the complex pathological manifestations of collagen disease: lessons from MRL/lpr and related mouse models. (11016428)
2000
8
Thallium-201 myocardial SPET in patients with collagen disease. (11039455)
2000
9
Clinical significance of ventilation/perfusion scans in collagen disease patients. (11210092)
2000
10
Genetic dissection of the complex pathological manifestations of collagen disease in MRL/lpr mice. (10594844)
1999
11
Serum concentrations of vascular endothelial growth factor in collagen diseases. (9990370)
1998
12
Alport syndrome: clinical and genetic correlation in a type-IV collagen disease. (9399052)
1997
13
Plasma protein S in disseminated intravascular coagulation, liver disease, collagen disease, diabetes mellitus, and under oral anticoagulant therapy. (2528431)
1989
14
Landmark article May 23, 1942: Diffuse collagen disease. Acute disseminated lupus erythematosus and diffuse scleroderma. By Paul Klemperer, Abou D. Pollack and George Baehr. (6366270)
1984
15
Animal models of collagen disease. (6750647)
1982
16
Gerontology: collagen disease. (7014047)
1981
17
A study of essential fatty acid metabolism as a precursor of prostaglandin in collagen disease. (7344138)
1981
18
The collagenous part of C1q is unaffected in the hydroxylysine-deficient collagen disease. (7353665)
1980
19
Myositis and collagen disease: a muscle biopsy study. (307661)
1978
20
Isoenzyme distribution of creatine kinase and lactate dehydrogenase in serum and skeletal muscle in Duchenne muscular dystrophy, collagen disease, and other muscular disorders. (709832)
1978
21
Esophageal dysfunction in collagen disease. (4701683)
1973
22
Profound sensorineural hearing loss associated with collagen disease. (4144707)
1972
23
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. (5016372)
1972
24
Spontaneous disappearance of insulin-resistant diabetes mellitus in a patient with a collagen disease. A case report, with review of the literature for conditions associated with insulin resistance. (5416269)
1970
25
Fat embolism in children: its frequency and relationships to collagen disease. (5811700)
1969
26
The lanthanic or undifferentiated collagen disease. (5375831)
1969
27
On the isolation and characterization of substances in the urine of patients with collagen disease. (6020454)
1967
28
Collagen disease is steroid toxicity. (5946768)
1966
29
Pathological significance of autoimmune phenomenon from an aspect of collagen disease, particularly of SLE. (5899500)
1965
30
EOSINOPHILIC LEUKEMIA AND DISSEMINATED EOSINOPHILIC COLLAGEN DISEASE--A DISEASE ENTITY? (14279494)
1965
31
NEUROLOGIC MANIFESTATIONS OF COLLAGEN DISEASE: A REPORT OF FOUR CASES. (14224299)
1964
32
COLLAGEN DISEASE ASSOCIATED WITH INTESTINAL MALABSORPTION AND SPRUE-LIKE CHANGES IN THE INTESTINAL MUCOSA. (14110642)
1964
33
A modification of Lovell, Pryce, and Boake's guinmea-pig skin test, its possible use in the semi-quantitative evaluation of the activity of various diseases, including collagen disease. (14028793)
1963
34
TWO CASES OF SUDDEN DEAFNESS; ONE FROM ACQUIRED SYPHILIS; AND ONE ASSOCIATED WITH POSSIBLE COLLAGEN DISEASE. (14062415)
1963
35
Phenylalanine and tyrosine in collagen diseases. Urinary excretion of general intermediary metabolites of tyrosine in patients with collagen disease and liver disease. (13729226)
1961
36
Weber-Christian disease.? a collagen disease. (13841567)
1959
37
Intermediary metabolism of phenylalanine and tyrosine in diffuse collagen diseases. II. Influences of the low phenylalanine and tyrosine diet upon patients with collagen disease. (14427316)
1959
38
Current status of the so-called collagen disease. (13643074)
1959
39
Intermediary metabolism of phenylalanine and tyrosine in diffuse collagen diseases. I. The presence of 2,5-dihydroxyphenylpyruvic acid in the urine of patients with collagen disease. (13507702)
1958
40
Pathology of allergic and collagen disease. (13590476)
1958
41
An examination of skin from patients with collagen disease utilizing the combined Alcian blue-periodic acid Schiff stain. (13406286)
1956
42
Rheumatic fever as a collagen disease. (13339200)
1956
43
Clinical electrophoresis in collagen disease. (13339205)
1956
44
Rheumatic fever as a collagen disease. (13229241)
1954
45
Three cases of collagen disease treated with corticoids. (13199305)
1954
46
Protective influence of pregnancy on experimental collagen disease lesions. (13091568)
1953
47
The SchAPnlein-Henoch syndrome and collagen disease. (14924680)
1952
48
The pathology of collagen disease applied to the eye. (14855536)
1951
49
Vascular diseases due to hypersensitivity; so-called diffuse collagen disease. (15404107)
1950
50
Masked collagen disease. (15396078)
1949

Variations for Collagen Disease

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Expression for genes affiliated with Collagen Disease

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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore
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Compounds for genes affiliated with Collagen Disease

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 25HMDB
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Compounds related to Collagen Disease according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1infliximab46 52 1211.9IL18R1, CTLA4
2ethylenediaminetetraacetic acid469.9FGA, SFTPD
3thalidomide46 52 62 1212.8CTLA4, IL18R1
4allergens469.8CTLA4, SFTPD
5prednisolone46 30 1211.8IL18R1, SFTPD
6polyethylene glycol469.7NPPA, IL18R1
76-ketoprostaglandin f1alpha469.7NPPA, FGA
8haloperidol46 52 30 3 1213.7IL18R1, NPPA
9inositol469.7IL18R1, SFTPD
10pge1469.6FGA, NPPA
11hydroxylysine469.6SFTPD, COL2A1
12procollagen469.6COL2A1, IL18R1
13hydroxyproline46 25 1211.5COL2A1, SFTPD
14endotoxin469.5SFTPD, IL18R1, FGA
15malondialdehyde469.5COL2A1, FGA
16adenine46 25 1211.4NPPA, CTLA4
17steroid469.4SFTPD, IL18R1, CTLA4
18prostacyclin469.3FGA, NPPA
19cyclic amp46 2510.3NPPA, IL18R1, SFTPD
20rapamycin469.3CTLA4, NPPA, IL18R1
21phosphatidylinositol469.3SFTPD, IL18R1, CTLA4
22cyclosporin a46 30 6211.3IL18R1, NPPA, CTLA4
23pge2469.3FGA, NPPA, IL18R1
24cholesterol46 30 25 1212.3SFTPD, CTLA4, FGA
25agarose469.2COL2A1, SFTPD
26oligonucleotide469.0COL2A1, IL18R1, SFTPD
27thymidine46 2510.0SFTPD, IL18R1, CTLA4, FGA
28alanine468.9CTLA4, COL2A1, IL18R1
29arginine468.8NPPA, COL2A1, IL18R1
30estrogen468.8IL18R1, NPPA, CTLA4
31glucose468.8CTLA4, IL18R1, SFTPD
32dexamethasone46 52 30 1211.7CTLA4, COL2A1, IL18R1, SFTPD
33cysteine468.6SFTPD, IL18R1, COL2A1, CTLA4
34nitric oxide46 25 1210.6NPPA, COL2A1, IL18R1, SFTPD
35oxygen46 259.5NPPA, COL2A1, IL18R1, SFTPD
36lipid468.2SFTPD, IL18R1, COL2A1, CTLA4, FGA
37serine468.2FGA, CTLA4, COL2A1, IL18R1, SFTPD
38calcium46 52 25 1210.5FGA, CTLA4, NPPA, COL2A1, IL18R1, SFTPD

GO Terms for genes affiliated with Collagen Disease

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17Gene Ontology
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Cellular components related to Collagen Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.1FGA, NPPA, COL2A1, SFTPD
2extracellular spaceGO:0056157.8FGA, NPPA, COL2A1, SFTPD

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of T cell proliferationGO:0421309.5CTLA4, SFTPD

Products for genes affiliated with Collagen Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Collagen Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet