MCID: CNN005
MIFTS: 57

Connective Tissue Disease malady

Muscle diseases category

Summaries for Connective Tissue Disease

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8Disease Ontology, 33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 Connective tissue is the material inside your body that supports many of its parts. it is the "cellular glue" that gives your tissues their shape and helps keep them strong. it also helps some of your tissues do their work. cartilage and fat are examples of connective tissue. there are over 200 disorders that impact connective tissue. some, like cellulitis, are the result of an infection. injuries can cause connective tissue disorders, such as scars. others, such as ehlers-danlos syndrome, marfan syndrome, and osteogenesis imperfecta, are genetic. still others, like scleroderma, have no known cause. each disorder has its own symptoms and needs different treatment.

MalaCards: Connective Tissue Disease, also known as connective tissue diseases, is related to mixed connective tissue disease and hypertension. An important gene associated with Connective Tissue Disease is POP1 (processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)), and among its related pathways is mRNA Splicing - Major Pathway. The compounds serine and atp have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related mouse phenotype mortality/aging.

Disease Ontology:8 A tissue disease that affects tissues such as skin, tendons, and cartilage.

Wikipedia:63 A connective tissue disease is any disease that has the connective tissues of the body as a target of... more...

Aliases & Classifications for Connective Tissue Disease

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Sources:
8Disease Ontology, 63Wikipedia, 10DISEASES, 44Novoseek, 60UMLS, 33MedlinePlus, 34MeSH, 39NCIt, 56SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

connective tissue disease 8 63 10
connective tissue diseases 44 60
disorder of connective tissue 8
other musculoskelet/connectiv 8
connective tissue disorders 33
connective tissue disorder 8
connective tissue dis. 8


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Disease Ontology8 DOID:65
MeSH34 D003240
NCIt39 C26729

Related Diseases for Connective Tissue Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Connective Tissue Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 374)
idRelated DiseaseScoreTop Affiliating Genes
1mixed connective tissue disease32.0HSPG2, HSPD1, LSM2, S100A9, APOH, ACVRL1
2hypertension31.4BMPR2
3lupus erythematosus31.2SNRPA, APOH, SNRNP70
4systemic lupus erythematosus31.2FBN1, FBL, PRTN3, RNPC3, CENPB, ADAMTS13
5arthritis31.0S100A9, FBN1, PRTN3, HSPD1
6rheumatoid arthritis30.9RNPC3, HSPD1, HSPG2, CENPB, S100A9, APOH
7vasculitis30.9APOH, PRTN3, HSPD1, S100A9
8hepatitis30.8HSPD1, HSPG2
9purpura30.7ADAMTS13, HSPG2
10vascular disease30.7HSPD1, APOH, ACVRL1, BMPR2, PRTN3
11dermatomyositis30.6FBN1, FBL, S100A9, HSPG2
12systemic scleroderma30.6SNRNP70, CENPB
13primary biliary cirrhosis30.5HSPG2, CENPB, RNPC3, PRTN3, HSPD1
14ankylosing spondylitis30.5PRTN3, FBN1, HSPD1
15pancreatitis30.3HSPG2
16polymyositis30.2FBL, RNPC3, HSPG2, S100A9
17atherosclerosis30.2FBN1, APOH, S100A9, HSPD1, PRTN3, ACVRL1
18primary pulmonary hypertension30.2FBN1, ACVRL1, BMPR2
19antiphospholipid syndrome30.2HSPG2, ADAMTS13, APOH
20pemphigus30.2DSG1
21behcet's disease30.0HSPG2, APOH, HSPD1
22thrombotic thrombocytopenic purpura, acquired30.0APOH, ADAMTS13
23aortic aneurysm29.9FBN1
24polyarteritis nodosa29.9PRTN3
25interstitial lung disease10.8
26scleroderma10.7
27pneumonia10.6
28pulmonary fibrosis10.5
29breast disease10.5
30esophageal disease10.5
31esophagitis10.5
32congenital heart block10.5
33thrombotic thrombocytopenic purpura10.5
34thyroiditis10.5
35vascular tissue disease10.5
36autoimmune hepatitis10.4
37capillary disease10.4
38meningitis10.4
39glomerulonephritis10.4
40osteoporosis-pseudoglioma syndrome10.4
41cardiac tamponade10.4
42aseptic meningitis10.4
43hepatitis a10.4
44fasciitis10.4
45hemorrhagic disease10.4
46liver disease10.4
47muscle tissue disease10.4
48myositis10.4
49protein-losing enteropathy10.3
50osteoporosis10.3

Graphical network of the top 20 diseases related to Connective Tissue Disease:



Diseases related to connective tissue disease

Clinical Features for Connective Tissue Disease

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Drugs & Therapeutics for Connective Tissue Disease

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

Search CenterWatch for Connective Tissue Disease

Drug clinical trials:

Search ClinicalTrials for Connective Tissue Disease

Search NIH Clinical Center for Connective Tissue Disease

Search CenterWatch for Connective Tissue Disease

Genetic Tests for Connective Tissue Disease

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Anatomical Context for Connective Tissue Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Connective Tissue Disease:

32
Bone, Skin, Lung, Heart, T cells, Endothelial, Thyroid, Breast, Liver, Testes, B cells, Kidney, Brain, Monocytes, Myeloid, Eye, Colon, Skeletal muscle, Tongue

Animal Models for Connective Tissue Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Connective Tissue Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.0ADAMTS13, HSPD1, S100A9, APOH, BMPR2, FBN1

Publications for Connective Tissue Disease

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Sources:
50PubMed
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Articles related to Connective Tissue Disease:

(show top 50)    (show all 962)
idTitleAuthorsYear
1
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. (22739343)
2013
2
Treatment of dermatologic connective tissue disease and autoimmune blistering disorders in pregnancy. (23914893)
2013
3
Intradermal sodium thiosulfate for exophytic calcinosis cutis of connective tissue disease. (23957995)
2013
4
Pulmonary hypertension complicating connective tissue disease. (24037627)
2013
5
Recurrent orbital myositis in undifferentiated connective tissue disease. (22840478)
2013
6
Unique gene expression and MR T2 relaxometry patterns define chronic murine dextran sodium sulphate colitis as a model for connective tissue changes in human Crohn's disease. (23894361)
2013
7
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
8
Connective tissue diseases: Role for STIM proteins in SjAPgren's syndrome pathogenesis. (22945590)
2012
9
Scleroderma pattern of nailfold capillary changes as predictive value for the development of a connective tissue disease: a follow-up study of 3,029 patients with primary Raynaud's phenomenon. (21901350)
2012
10
Unnecessary life threatening complications after IVF in mixed connective tissue disease. (22492224)
2012
11
Prevalence of connective tissue disease in silicosis (1985-2006)-a report from the state of Michigan surveillance system for silicosis. (20957678)
2011
12
Developing disease activity and response criteria in connective tissue disease-related interstitial lung disease. (21724725)
2011
13
Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease: a case report. (21915182)
2011
14
Connective tissue diseases: Therapeutic targeting of chromatin in lupus nephritis? (21491651)
2011
15
Connective tissue disease in a Malawian man. (21618847)
2010
16
Characterization of connective tissue disease-associated pulmonary arterial hypertension from REVEAL: identifying systemic sclerosis as a unique phenotype. (20507945)
2010
17
Neonatal lupus in triplet pregnancy of a patient with undifferentiated connective tissue disease evolving to systemic lupus erythematosus. (19276307)
2009
18
Occurrence of HSV-1-induced pneumonitis in patients under standard immunosuppressive therapy for rheumatic, vasculitic, and connective tissue disease. (19450259)
2009
19
The frequency of anti-beta2-glycoprotein I antibodies is low and these antibodies are associated with pulmonary hypertension in mixed connective tissue disease. (19433462)
2009
20
Antikinectin autoantibody in BehAset's disease and several other autoimmune connective tissue diseases. (17949557)
2007
21
Antigen specificity of antihistone antibodies in connective tissue disease patients with anti-U1RNP antibodies. (17628803)
2007
22
The prevalence of undiagnosed pulmonary arterial hypertension in subjects with connective tissue disease at the secondary health care level of community-based rheumatologists (the UNCOVER study). (15986394)
2005
23
Osteolysis with detritic synovitis: appearance in a patient with connective tissue disease. (15696554)
2005
24
A case of mixed connective tissue disease presenting with nephrotic syndrome. (17143681)
2004
25
Nailfold digital capillaroscopy in 447 patients with connective tissue disease and Raynaud's disease. (14678534)
2004
26
IgA and IgG tissue transglutaminase antibody prevalence and clinical significance in connective tissue diseases, inflammatory bowel disease, and primary biliary cirrhosis. (14714625)
2003
27
Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). (12935979)
2003
28
Effect of intermittent cyclical etidronate therapy on corticosteroid induced osteoporosis in Japanese patients with connective tissue disease: 3 year followup. (14719212)
2003
29
Pregnancy outcome in patients with undifferentiated connective tissue disease: a preliminary study on 25 pregnancies. (12090565)
2002
30
Renal crisis due to intimal hyperplasia in a patient with mixed connective tissue disease (MCTD) accompanied by pulmonary hypertension. (11813854)
2001
31
Cardiovascular autonomic function, autoantibodies, and esophageal motor activity in patients with systemic sclerosis and mixed connective tissue disease. (10743810)
2000
32
Isolated pulmonary capillaritis and diffuse alveolar hemorrhage in rheumatoid arthritis and mixed connective tissue disease. (9631801)
1998
33
Mixed connective tissue disease. (9362600)
1997
34
Antibodies to small ribonucleoprotein and to 73-kD heat shock protein: two distinct markers of mixed connective tissue disease. (7774060)
1995
35
Prevalence of autoimmune thyroid disease (AITD) in patients with mixed connective tissue disease (MCTD) (7641521)
1995
36
A 35-year-old woman with mixed connective tissue disease who developed progressive dyspnea. (8089955)
1994
37
Mixed connective tissue disease--a farewell? (8461935)
1993
38
Nailfold capillary density as a possible indicator of pulmonary capillary loss in SLE but not in mixed connective tissue disease. (1433025)
1992
39
Early undifferentiated connective tissue disease. II. The frequency of circulating antinuclear antibodies in patients with early rheumatic diseases. (1757935)
1991
40
Clinical screening for collagen defects in connective tissue diseases. (2286029)
1990
41
Anticardiolipin antibodies in diffuse connective tissue diseases with IgG, IgM and IgA isotypes]. (2267732)
1990
42
Muscle ultrastructure in a case of mixed connective tissue disease and SjAPgren's syndrome. (2520352)
1989
43
Esophageal motor abnormalities in children and adolescents with scleroderma and mixed connective tissue disease. (3288952)
1988
44
Localization of nRNP antigen in mammalian cells stained with peroxidase-labelled IgG fraction of anti-nRNP antibody obtained from a patient with mixed connective tissue disease (MCTD). (3118504)
1987
45
Renal involvement in mixed connective tissue disease: a longitudinal clinicopathologic study. (3563525)
1986
46
Circulating lupus type anticoagulant and pulmonary hypertension associated with mixed connective tissue disease. (3082573)
1986
47
Excessive hypercalcaemia and mixed connective tissue disease. (3776702)
1986
48
Mixed connective tissue disease. (3880025)
1985
49
Maternal connective tissue disease and congenital heart block. Demonstration of immunoglobulin in cardiac tissue. (3880599)
1985
50
EPIDERMOLYSIS BULLOSA ACQUISITA: A DISEASE OF DERMAL CONNECTIVE TISSUE. (14246157)
1965

Genetic Variations for Connective Tissue Disease

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Expression for genes affiliated with Connective Tissue Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Connective Tissue Disease

Search GEO for disease gene expression data for Connective Tissue Disease.

Pathways for genes affiliated with Connective Tissue Disease

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Connective Tissue Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6SNRPA, SNRPC, SNRNP70, LSM2

Compounds for genes affiliated with Connective Tissue Disease

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1serine4411.2ADAMTS13, LSM2, BMPR2, SNRNP70, FBN1, FBL
2atp44 2812.1HSPG2, HSPD1, LSM2, S100A9, APOH, SNRPA
3arginine4411.0LSM2, APOH, BMPR2, FBN1, FBL, RNPC3
4calcium44 49 11 2414.0HSPG2, HSPD1, S100A9, APOH, FBN1, PRTN3
5gold4411.0HSPD1, APOH, MFAP2, FBN1, PRTN3
6tyrosine4410.9HSPG2, HSPD1, S100A9, MFAP2, BMPR2, FBN1
7rituximab44 49 1112.9APOH, PRTN3, DSG1, ADAMTS13
8zinc44 2411.9LSM2, S100A9, APOH, SNRPC, RNPC3, ADAMTS13
9endotoxin4410.9HSPD1, S100A9, APOH, ADAMTS13
10phosphatidylserine44 28 1112.9HSPG2, APOH, PRTN3, RNPC3
11rrna4410.8RNPC3, FBL, HSPD1
12oxygen44 2411.7HSPD1, S100A9, APOH, BMPR2, FBN1, PRTN3
13neomycin4410.7HSPG2, HSPD1, RNPC3
14retinoic acid44 2411.6HSPG2, HSPD1, S100A9, FBN1, PRTN3, DSG1
15propylthiouracil44 2 1112.5APOH
16fibrinogen4410.4ADAMTS13, APOH, S100A9, HSPD1

GO Terms for genes affiliated with Connective Tissue Disease

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00998610.7ADAMTS13, ACVRL1, BMPR2, APOH, HSPD1
2microfibrilGO:00152710.6FBN1, MFAP2
3extracellular matrixGO:03101210.6HSPG2, APOH, FBN1, PRTN3
4extracellular spaceGO:00561510.5HSPG2, HSPD1, S100A9, APOH, FBN1, ADAMTS13

Biological processes related to Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mRNA splicing, via spliceosomeGO:00039810.8SNRPA, SNRPC, SNRNP70, LSM2
2venous blood vessel developmentGO:06084110.8ACVRL1, BMPR2
3lymphatic endothelial cell differentiationGO:06083610.7BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:200027910.7ACVRL1, BMPR2
5retina vasculature development in camera-type eyeGO:06129810.6BMPR2, ACVRL1
6negative regulation of endothelial cell migrationGO:01059610.6ACVRL1, APOH
7artery developmentGO:06084010.6BMPR2, ACVRL1
8RNA splicingGO:00838010.5LSM2, SNRNP70, SNRPA, RNPC3
9lymphangiogenesisGO:00194610.3ACVRL1, BMPR2

Molecular functions related to Connective Tissue Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.8ADAMTS13, HSPG2, HSPD1, LSM2, S100A9, APOH
2transforming growth factor beta-activated receptor activityGO:00502410.6ACVRL1, BMPR2

Products for genes affiliated with Connective Tissue Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Connective Tissue 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