MCID: CLL015
MIFTS: 50

Collagen Disease malady

Genetic diseases (common) category
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Summaries for Collagen Disease

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Wikipedia:65 Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid... more...

MalaCards based summary: Collagen Disease, also known as collagen diseases, is related to pulmonary hypertension 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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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt
See all sources

Collagen Disease, Aliases & Descriptions:

Name: Collagen Disease 8 10
Collagen Diseases 44 62
 
Collagen Disorder 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:854
MeSH34 D003095
NCIt39 C27204

Related Diseases for Collagen Disease

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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 103)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension30.1FGA, NPPA
2uveitis30.0CTLA4, IL18R1
3polymyositis30.0CTLA4, SFTPD
4vasculitis30.0FGA, CTLA4
5connective tissue disease29.8COL2A1, SFTPD
6diabetes mellitus29.8NPPA, CTLA4, FGA
7essential hypertension29.8FGA, NPPA
8pneumonia29.8FGA, SFTPD
9arthropathy29.8COL2A1, CTLA4
10asthma29.7SFTPD, IL18R1, CTLA4
11arthritis29.5IL18R1, COL2A1, CTLA4
12rheumatoid arthritis29.3SFTPD, IL18R1, COL2A1, CTLA4
13lupus erythematosus10.3
14sarcoidosis10.2IL18R1, SFTPD
15systemic lupus erythematosus10.2
16disseminated eosinophilic collagen disease10.2
17septic shock10.2IL18R1, FGA
18allergic rhinitis10.2CTLA4, IL18R1
19mitral valve stenosis10.2NPPA, FGA
20allergic asthma10.1CTLA4, SFTPD
21primary pulmonary hypertension10.1FGA, NPPA
22alpha-2 deficient collagen disease10.1
23chronic lymphocytic leukemia10.1CTLA4, IL18R1
24nephrotic syndrome10.1FGA, NPPA
25dwarfism10.1COL2A1, IL18R1
26dilated cardiomyopathy10.1NPPA, FGA
27coronary artery anomaly10.1FGA, IL18R1
28hypertension10.1
29liver disease10.1
30rheumatic fever10.1
31scleroderma10.1
32acute myocardial infarction10.1FGA, NPPA
33immunodeficiency with hyper igm type 210.0SFTPD, IL18R1, FGA
34sepsis10.0FGA, IL18R1, SFTPD
35rheumatic disease10.0CTLA4, COL2A1
36liver cirrhosis10.0FGA, NPPA
37non-small cell lung carcinoma10.0SFTPD, IL18R1, FGA
38systemic scleroderma10.0FGA, CTLA4, SFTPD
39lung cancer10.0CTLA4, IL18R1, SFTPD
40primary hyperoxaluria10.0NPPA, IL18R1
41type 1 diabetes mellitus10.0CTLA4, NPPA, IL18R1
42hepatitis10.0
43nasopharyngitis10.0
44agammaglobulinemia10.0
45ischemia10.0
46periarteritis nodosa10.0
47endotheliitis10.0
48cerebrovascular disease10.0FGA, NPPA, IL18R1
49skin disease10.0IL18R1, SFTPD
50pre-eclampsia9.9FGA, CTLA4, NPPA

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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Drug clinical trials:

Search ClinicalTrials for Collagen Disease

Search NIH Clinical Center for Collagen Disease

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Collagen Disease

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Anatomical Context for Collagen Disease

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MalaCards organs/tissues related to Collagen Disease:

32
Skin, Liver, Endothelial, Eye, Skeletal muscle, Lung, Testes, Neutrophil

Animal Models for Collagen Disease or affiliated genes

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MGI Mouse Phenotypes related to Collagen Disease:

36
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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Articles related to Collagen Disease:

(show top 50)    (show all 190)
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
Aluminum foil treatment combined with basic fibroblast growth factor (bFGF) for gangrene of the fingertip caused by collagen disease. (16320409)
2005
5
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
6
Genetic basis of the complex pathological manifestations of collagen disease: lessons from MRL/lpr and related mouse models. (11016428)
2000
7
Thallium-201 myocardial SPET in patients with collagen disease. (11039455)
2000
8
Clinical significance of ventilation/perfusion scans in collagen disease patients. (11210092)
2000
9
Genetic dissection of the complex pathological manifestations of collagen disease in MRL/lpr mice. (10594844)
1999
10
Serum concentrations of vascular endothelial growth factor in collagen diseases. (9990370)
1998
11
Alport syndrome: clinical and genetic correlation in a type-IV collagen disease. (9399052)
1997
12
Unusual systemic lupus erythematosus-like reaction to minocycline in a patient with acne and antecedent collagen disease. (19078088)
1996
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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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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Compounds for genes affiliated with Collagen Disease

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Compounds related to Collagen Disease according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1infliximab44 50 1111.9IL18R1, CTLA4
2ethylenediaminetetraacetic acid449.9FGA, SFTPD
3thalidomide44 50 61 1112.8CTLA4, IL18R1
4allergens449.8CTLA4, SFTPD
5prednisolone44 28 1111.8IL18R1, SFTPD
6polyethylene glycol449.7NPPA, IL18R1
76-ketoprostaglandin f1alpha449.7NPPA, FGA
8haloperidol44 50 28 2 1113.7IL18R1, NPPA
9inositol449.7IL18R1, SFTPD
10pge1449.6FGA, NPPA
11hydroxylysine449.6SFTPD, COL2A1
12procollagen449.6COL2A1, IL18R1
13hydroxyproline44 24 1111.5COL2A1, SFTPD
14endotoxin449.5SFTPD, IL18R1, FGA
15malondialdehyde449.5COL2A1, FGA
16adenine44 24 1111.4NPPA, CTLA4
17steroid449.4SFTPD, IL18R1, CTLA4
18prostacyclin449.3FGA, NPPA
19cyclic amp44 2410.3NPPA, IL18R1, SFTPD
20rapamycin449.3CTLA4, NPPA, IL18R1
21phosphatidylinositol449.3SFTPD, IL18R1, CTLA4
22cyclosporin a44 28 6111.3IL18R1, NPPA, CTLA4
23pge2449.3FGA, NPPA, IL18R1
24cholesterol44 28 24 1112.3SFTPD, CTLA4, FGA
25agarose449.2COL2A1, SFTPD
26oligonucleotide449.0COL2A1, IL18R1, SFTPD
27thymidine44 2410.0SFTPD, IL18R1, CTLA4, FGA
28alanine448.9CTLA4, COL2A1, IL18R1
29arginine448.8NPPA, COL2A1, IL18R1
30estrogen448.8IL18R1, NPPA, CTLA4
31glucose448.8CTLA4, IL18R1, SFTPD
32dexamethasone44 50 28 1111.7CTLA4, COL2A1, IL18R1, SFTPD
33cysteine448.6SFTPD, IL18R1, COL2A1, CTLA4
34nitric oxide44 24 1110.6NPPA, COL2A1, IL18R1, SFTPD
35oxygen44 249.5NPPA, COL2A1, IL18R1, SFTPD
36lipid448.2SFTPD, IL18R1, COL2A1, CTLA4, FGA
37serine448.2FGA, CTLA4, COL2A1, IL18R1, SFTPD
38calcium44 50 24 1110.5FGA, CTLA4, NPPA, COL2A1, IL18R1, SFTPD

GO Terms for genes affiliated with Collagen Disease

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet