MCID: CNN005
MIFTS: 57

Connective Tissue Disease malady

Muscle diseases category

Summaries for Connective Tissue Disease

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Sources:
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, Breast, Thyroid, Liver, Testes, B cells, Kidney, Brain, Monocytes, Skeletal muscle, Eye, Myeloid, Tongue, Colon

Animal Models for Connective Tissue Disease or affiliated genes

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Sources:
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
Pulmonary arterial hypertension related to connective tissue disease: a review. (24268012)
2014
2
When and how to perform biopsies in a patient with a (suspected) connective tissue disease. (23731932)
2013
3
Two cases of mixed connective tissue disease complicated with thrombotic thrombocytopenic purpura. (23842515)
2013
4
Connective Tissue Disease-associated Interstitial Lung Disease: A review. (23125954)
2012
5
Rapidly progressive respiratory failure in mixed connective tissue disease: report of an autopsy case. (23257531)
2012
6
Spontaneous esophageal perforation in a patient with mixed connective tissue disease. (22279514)
2011
7
Undifferentiated connective tissue disease presenting with prevalent interstitial lung disease: case report and review of literature. (21645423)
2011
8
Pulmonary arterial hypertension associated with connective tissue disease and immunosuppressive therapy. (21963571)
2011
9
Alfacalcidol treatment restores derailed immune-regulation in patients with undifferentiated connective tissue disease. (20868777)
2011
10
The unfolded protein response and its relevance to connective tissue diseases. (19851784)
2010
11
The origin of mixed connective tissue disease: a stimulus for autoimmune disease research. (19762374)
2009
12
Rapid improvement of nailfold capillaroscopy after intense immunosuppression for systemic sclerosis and mixed connective tissue disease. (18556454)
2008
13
Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a retrospective analysis of twenty-three cases. (18240255)
2008
14
The temporal relationship of Raynaud's phenomenon and features of connective tissue disease in rheumatoid arthritis. (18843783)
2008
15
Circulating 20S proteasome levels in patients with mixed connective tissue disease and systemic lupus erythematosus. (18667633)
2008
16
Vitamin D or hormone D deficiency in autoimmune rheumatic diseases, including undifferentiated connective tissue disease. (19090978)
2008
17
High serum levels of antibodies against the recombinant 70 kDa ribonucleoprotein are useful for diagnosing mixed connective tissue disease. (17714123)
2007
18
Idiopathic nonspecific interstitial pneumonia: lung manifestation of undifferentiated connective tissue disease? (17556720)
2007
19
Comparison of frequency of complex ventricular arrhythmias in patients with positive versus negative anti-Ro/SSA and connective tissue disease. (17826392)
2007
20
Pulmonary function tests in connective tissue disease. (17764056)
2007
21
Combined systolic and diastolic heart failure as the first presentation of mixed connective tissue disease. (17824306)
2007
22
Diabetic ketoacidosis responsive to methotrexate in a patient with a mixed connective tissue disease]. (17369988)
2007
23
Lipodermatosclerosis in patients with diffuse connective tissue diseases. (16762781)
2006
24
Targeting human immunodeficiency virus type 1 with antibodies derived from patients with connective tissue disease. (17211992)
2006
25
Combination of immunoadsorption and CD20 antibody therapy in a patient with mixed connective tissue disease. (16461439)
2006
26
Connective tissue growth factor (CTGF) expression in the brain is a downstream effector of insulin resistance- associated promotion of Alzheimer's disease beta-amyloid neuropathology. (16186174)
2005
27
Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. (15459817)
2004
28
A case of merged idiopathic portal hypertension in course of mixed connective tissue disease. (15341774)
2004
29
Autoantibodies directed against the amino-terminal domain I of human calpastatin (ACAST-DI Ab) in connective tissue diseases. High levels of ACAST-DI Ab are associated with vasculitis in lupus. (12367559)
2002
30
Mixed connective tissue disease following interstitial cystitis. (11174138)
2001
31
Childhood mixed connective tissue disease. (10770031)
2000
32
Assessment of microvascular changes in Raynaud's phenomenon and connective tissue disease using colour doppler ultrasound. (11085798)
2000
33
Low-dose cyclosporin for multiple colonic ulcers associated with mixed connective tissue disease. (10524557)
1999
34
Mixed connective tissue disease: a disease entity? (10374418)
1998
35
Splenic vasculitis in juvenile onset mixed connective tissue disease. (9676787)
1998
36
Increased serum angiotensin I-converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. (7863277)
1995
37
Pulmonary vascular reactivity in severe pulmonary hypertension associated with mixed connective tissue disease. (7886662)
1995
38
Combined effects of diltiazem and oxygen in pulmonary hypertension of mixed connective tissue disease. (7799364)
1994
39
Antibodies to the constitutive 73-kd heat shock protein: a new marker of mixed connective tissue disease? (8259776)
1993
40
Urticarial vasculitis in a connective tissue disease clinic: patterns, presentations, and treatment. (2068575)
1991
41
Tongue atrophy in mixed connective tissue disease. (2011351)
1991
42
Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis. (2789110)
1989
43
Juvenile-onset mixed connective tissue disease: clinical, serological and follow-up data. (2772563)
1989
44
Failure of steroid and immunosuppressant therapy to halt progression of mixed connective tissue disease. (3207593)
1988
45
Clinical significance of U1-RNP immune complexes in mixed connective tissue disease and systemic lupus erythematosus. (2954202)
1987
46
Reye syndrome in children receiving salicylate therapy for connective tissue disease. (4067744)
1985
47
Myocardial necrosis in a patient with mixed connective tissue disease. (3996075)
1985
48
On the prognosis of patients with mixed connective tissue disease. (6721891)
1984
49
Mixed connective tissue disease (Sharp syndrome): description of two cases. (6618858)
1983
50
Heritable disorders of connective tissue. VIII. Concluding comments. Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of connective tissue; the future in the study of heritable disorders of connective tissue; general summary and conclusions. (13306757)
1956

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
1serine4411.2ACVRL1, ADAMTS13, RNPC3, DSG1, FBL, FBN1
2atp44 2812.1LSM2, APOH, RNPC3, ALDH18A1, HSPG2, HSPD1
3arginine4411.0RNPC3, FBL, LSM2, APOH, ALDH18A1, FBN1
4calcium44 49 11 2414.0HSPD1, S100A9, APOH, FBN1, HSPG2, PRTN3
5gold4411.0HSPD1, APOH, MFAP2, FBN1, PRTN3
6tyrosine4410.9HSPD1, MFAP2, HSPG2, S100A9, RNPC3, BMPR2
7rituximab44 49 1112.9DSG1, PRTN3, APOH, ADAMTS13
8zinc44 2411.9LSM2, S100A9, SNRPC, ADAMTS13, RNPC3, APOH
9endotoxin4410.9S100A9, HSPD1, ADAMTS13, APOH
10phosphatidylserine44 28 1112.9HSPG2, RNPC3, PRTN3, APOH
11rrna4410.8RNPC3, FBL, HSPD1
12oxygen44 2411.7HSPD1, PRTN3, S100A9, APOH, BMPR2, FBN1
13neomycin4410.7HSPG2, HSPD1, RNPC3
14retinoic acid44 2411.6S100A9, FBN1, PRTN3, DSG1, HSPG2, HSPD1
15propylthiouracil44 2 1112.5APOH
16fibrinogen4410.4S100A9, APOH, ADAMTS13, 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, HSPD1, APOH, BMPR2, ACVRL1
2microfibrilGO:00152710.6MFAP2, FBN1
3extracellular matrixGO:03101210.6APOH, FBN1, PRTN3, HSPG2
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, LSM2, SNRNP70, SNRPC
2venous blood vessel developmentGO:06084110.8BMPR2, ACVRL1
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:00838010.5SNRPA, SNRNP70, LSM2, RNPC3
9lymphangiogenesisGO:00194610.3ACVRL1, BMPR2

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

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

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