MCID: CNN005
MIFTS: 58

Connective Tissue Disease malady

Muscle diseases category

Summaries for Connective Tissue Disease

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MedlinePlus:34 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 based summary: Connective Tissue Disease, also known as disorder of connective tissue, is related to mixed connective tissue disease and pulmonary hypertension. An important gene associated with Connective Tissue Disease is APOH (apolipoprotein H (beta-2-glycoprotein I)), and among its related pathways are ALK1 signaling events and Id Signaling Pathway. The compounds quinacrine and homocysteine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are respiratory system and embryogenesis.

Disease Ontology:10 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.

Wikipedia:65 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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Connective Tissue Disease, Aliases & Descriptions:

Name: Connective Tissue Disease 10 65 12
Disorder of Connective Tissue 10 62
Connective Tissue Disorders 34 62
Connective Tissue Diseases 45 62
 
Other Musculoskelet/connectiv 10
Connective Tissue Disorder 10
Connective Tissue Dis. 10


Classifications:

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


External Ids:

Disease Ontology10 DOID:65
NCIt40 C26729
MeSH35 D003240

Related Diseases for Connective Tissue Disease

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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 373)
idRelated DiseaseScoreTop Affiliating Genes
1mixed connective tissue disease31.7LSM2, HNRNPDL, BMPR2, ACVRL1, RNPC3, DSG1
2pulmonary hypertension31.2BMPR2, ACVRL1, FBN1
3arthritis31.0HSPD1, TNFRSF1B, FBN1, HLA-A
4systemic lupus erythematosus31.0RNPC3, POLR1C, APOH, HSPD1, HSPG2, TNFRSF1B
5vasculitis30.9TNFRSF1B, HSPD1, APOH
6purpura30.8HSPG2
7hepatitis30.8HSPD1, HSPG2, HLA-A
8rheumatoid arthritis30.8HLA-A, TNFRSF1B, HSPG2, HSPD1, APOH, POLR1C
9polymyositis30.6RNPC3, HSPG2, TNFRSF1B
10dermatomyositis30.6HSPG2, FBN1
11autoimmune hepatitis30.6HSPD1, HSPG2, HLA-A
12rheumatic disease30.6FBN1
13primary biliary cirrhosis30.5RNPC3, HSPD1, HSPG2
14lupus nephritis30.5APOH, TNFRSF1B
15hepatitis b30.4HLA-A, POLR1C, RNPC3
16vascular disease30.3HSPD1, APOH, ACVRL1, BMPR2
17atherosclerosis30.3FBN1, HSPG2, HSPD1, APOH, ACVRL1
18antiphospholipid syndrome30.3HSPG2, APOH
19coronary artery disease30.0FBN1, TNFRSF1B, HSPD1
20influenza30.0HLA-A, POLR1C, RNPC3
21behcet's disease30.0HLA-A, TNFRSF1B, HSPG2, HSPD1, APOH
22systemic scleroderma29.9HLA-A, FBN1, HSPG2, APOH, POLR1C, RNPC3
23lung cancer29.9HLA-A, TNFRSF1B, HSPG2, HSPD1, DSG1
24melanoma29.9HLA-A, HSPG2, HSPD1, DSG1
25lupus erythematosus10.8
26interstitial lung disease10.8
27scleroderma10.7
28pneumonia10.7
29pulmonary fibrosis10.6
30endotheliitis10.5
31esophagitis10.5
32thrombotic thrombocytopenic purpura10.5
33thyroiditis10.5
34congenital heart block10.4
35glomerulonephritis10.4
36meningitis10.4
37osteoporosis-pseudoglioma syndrome10.4
38calcinosis10.4
39muscle disorders10.4
40cardiac tamponade10.4
41protein-losing enteropathy10.4
42aseptic meningitis10.4
43fasciitis10.4
44myositis10.4
45localized scleroderma10.3
46pediatric systemic lupus erythematosus10.3
47osteoporosis10.3
48neuropathy10.3
49spondylitis10.3
50pulmonary function10.3

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



Diseases related to connective tissue disease

Symptoms for Connective Tissue Disease

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Drugs & Therapeutics for Connective Tissue Disease

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Drug clinical trials:

Search ClinicalTrials for Connective Tissue Disease

Search NIH Clinical Center for Connective Tissue Disease

Genetic Tests for Connective Tissue Disease

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Anatomical Context for Connective Tissue Disease

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MalaCards organs/tissues related to Connective Tissue Disease:

33
Skin, Bone, Lung, T cells, Heart, Endothelial, Breast, Thyroid, Testes, Liver, B cells, Kidney, Brain, Monocytes, Skeletal muscle, Colon, Myeloid, Tongue, Neutrophil

Animal Models for Connective Tissue Disease or affiliated genes

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MGI Mouse Phenotypes related to Connective Tissue Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7FBN1, TNFRSF1B, HSPG2, ACVRL1, BMPR2
2MP:00053808.4FBN1, HSPG2, HSPD1, ACVRL1, BMPR2
3MP:00053698.4BMPR2, ACVRL1, HSPD1, HSPG2, TNFRSF1B, FBN1
4MP:00107688.1BMPR2, ACVRL1, APOH, HSPD1, HSPG2, TNFRSF1B

Publications for Connective Tissue Disease

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Articles related to Connective Tissue Disease:

(show top 50)    (show all 961)
idTitleAuthorsYear
1
Connective Tissue Disease-associated Interstitial Lung Diseases (CTD-ILD) - Report from OMERACT CTD-ILD Working Group. (25729034)
2015
2
Pulmonary arterial hypertension related to connective tissue disease: a review. (24268012)
2014
3
Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease. (23632618)
2013
4
Cardiac involvement in mixed connective tissue disease: A systematic review. (24433611)
2013
5
Connective Tissue Disease-Associated Interstitial Lung Disease: A Focused Review. (24371251)
2013
6
Comparison of characteristics of connective tissue disease-associated interstitial lung diseases, undifferentiated connective tissue disease-associated interstitial lung diseases, and idiopathic pulmonary fibrosis in Chinese Han population: a retrospective study. (24171031)
2013
7
Assessment of the 'no eosinophils' rule: are eosinophils truly absent in pityriasis lichenoides, connective tissue disease, and graft-vs.-host disease? (22443393)
2012
8
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
9
Calcinosis cutis in autoimmune connective tissue diseases. (22741938)
2012
10
Neuromyelitis optica spectrum disorder in patients with connective tissue disease and myelitis. (21523924)
2011
11
Connective tissue diseases: Lupus nephritis-winning a few battles but not the war. (21691329)
2011
12
Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration. (20890626)
2011
13
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
14
Late onset of pANCA renal and pulmonary vasculitis in a girl affected by undifferentiated connective tissue disease. (20133348)
2010
15
Leg ulcer in mixed connective tissue disease. Resolution during sitaxsentan therapy]. (19156432)
2009
16
Diagnostic workup for mixed connective tissue disease in childhood. (18847172)
2008
17
Clinical and molecular overlap between myopathies and inherited connective tissue diseases. (18818079)
2008
18
Ribosomal P protein P0 as a candidate for the target antigen of anti-endothelial cell antibodies in mixed connective tissue disease. (17888216)
2007
19
A rare case of systemic autoimmune disease with intricate features of systemic sclerosis, lupus, polymyositis and rheumatoid arthritis. Overlap syndrome or mixed connective tissue disease? (17932479)
2007
20
Reversible posterior leucoencephalopathy syndrome in a patient with undifferentiated connective tissue disease. (16766377)
2006
21
Congenital complete heart block and maternal connective tissue disease. (16815568)
2006
22
Semiquantitative assessment of the intestinal motility in chronic intestinal pseudo-obstruction in systemic sclerosis and mixed connective tissue disease by Sitzmarks capsule. (17039319)
2006
23
Serum levels of anti-agalactosyl IgG antibodies in mixed connective tissue disease. (15840122)
2005
24
Serum levels of manganese superoxide dismutase in patients with mixed connective tissue disease. (16095129)
2005
25
Procedures related to connective tissue disease. (15939367)
2005
26
Abnormalities of serum antielastin antibodies in connective tissue diseases. (12643515)
2003
27
Five-year follow-up of 665 Hungarian patients with undifferentiated connective tissue disease (UCTD). (12846049)
2003
28
High mutation rate in the NS1 gene of parvovirus B19 DNA amplified from skeletal muscle of a case of mixed connective tissue disease. (12096244)
2002
29
Clinical microbiological case: a firm, right infraclavicular mass in an adult woman with connective tissue disease. (12390286)
2002
30
Choroidal vascular occlusion in a child with a connective tissue disease and complement C4 deficiency. (12093649)
2002
31
Pregnancy outcome in nephrotic syndrome with mixed connective tissue disease. (11598404)
2001
32
Renal crisis due to intimal hyperplasia in a patient with mixed connective tissue disease (MCTD) accompanied by pulmonary hypertension. (11813854)
2001
33
Mixed connective tissue disease. (10990174)
2000
34
Anti-A2/RA33 autoantibodies are directed to the RNA binding region of the A2 protein of the heterogeneous nuclear ribonucleoprotein complex. Differential epitope recognition in rheumatoid arthritis, systemic lupus erythematosus, and mixed connective tissue disease. (9202064)
1997
35
Anti-RNP antibody in a child with undifferentiated carcinoma and no evidence of mixed connective tissue disease. (9133950)
1997
36
Autoimmune response to the spliceosome. An immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. (7779120)
1995
37
Increased serum angiotensin I-converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. (7863277)
1995
38
Brain hemorrhage in mixed connective tissue disease. A case report. (7978512)
1994
39
Orofacial manifestations of mixed connective tissue disease. (2334610)
1990
40
Resorptive arthropathy and rib erosions in mixed connective tissue disease. (2359089)
1990
41
Muscle ultrastructure in a case of mixed connective tissue disease and SjAPgren's syndrome. (2520352)
1989
42
Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis. (2789110)
1989
43
An adult case of mixed connective tissue disease associated with perimyocarditis and massive pericardial effusion. (3723788)
1986
44
Disseminated nocardiosis in a patient with mixed connective tissue disease. (4095403)
1985
45
Secretory diarrhea in mixed connective tissue disease. (3969997)
1985
46
Mitral and tricuspid valve prolapse in a patient with mixed connective tissue disease. (6857311)
1983
47
Cardiovascular manifestations of mixed connective tissue disease in adults. (6640871)
1983
48
Mesangial proliferative glomerulonephritis in mixed connective tissue disease (MCTD). (7363519)
1980
49
The Winchester syndrome: a nonlysosomal connective tissue disease. (4206841)
1974
50
Scleritis and aortic incompetence. Two manifestations of connective tissue disease. (4394498)
1970

Variations for Connective Tissue Disease

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Expression for genes affiliated with Connective Tissue Disease

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

Pathways for genes affiliated with Connective Tissue Disease

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Compounds for genes affiliated with Connective Tissue Disease

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Compounds related to Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1quinacrine45 1311.1APOH, HSPG2
2homocysteine45 2610.9FBN1, TNFRSF1B, APOH
3ivig459.9TNFRSF1B, APOH, DSG1
4gold459.8FBN1, HSPD1, APOH
5cardiolipin45 1310.7RNPC3, APOH
6endotoxin459.7TNFRSF1B, HSPD1, APOH
7mannose459.7BMPR2, APOH, HSPD1
8p002459.7HLA-A, TNFRSF1B, APOH
9etanercept45 51 1311.5APOH, TNFRSF1B
10nitrate459.5HSPD1, TNFRSF1B
11phosphatidylserine45 30 1311.5RNPC3, APOH, HSPG2
12trna459.5RNPC3, POLR1C
13neomycin459.4RNPC3, HSPD1, HSPG2
14rrna459.4RNPC3, POLR1C, HSPD1
15fibrinogen459.4TNFRSF1B, HSPD1, APOH
16progesterone45 30 61 26 1313.4BMPR2, APOH, HSPD1, FBN1
17glutamate459.3FBN1, HSPG2, HSPD1, APOH
18cycloheximide459.3POLR1C, HSPD1, HSPG2, TNFRSF1B
19vegf459.1TNFRSF1B, HSPG2, HSPD1, APOH, ACVRL1
20retinoic acid45 2610.1DSG1, HSPD1, HSPG2, TNFRSF1B, FBN1
21oxygen45 2610.1BMPR2, APOH, HSPD1, TNFRSF1B, FBN1
22magnesium45 26 1311.0POLR1C, RNPC3, ACVRL1, BMPR2
23alanine459.0HSPD1, HSPG2, FBN1, HLA-A
24lipid459.0FBN1, TNFRSF1B, HSPD1, APOH, BMPR2
25oligonucleotide458.9HLA-A, TNFRSF1B, RNPC3, ACVRL1
26cyclosporin a45 30 6110.9RNPC3, HSPD1, TNFRSF1B, HLA-A
27gtp45 309.7HSPG2, POLR1C, RNPC3, LSM2
28adenylate458.6HLA-A, TNFRSF1B, HSPG2, HSPD1, RNPC3
29atp45 309.0HSPG2, HSPD1, APOH, POLR1C, RNPC3, LSM2
30zinc45 268.9HLA-A, TNFRSF1B, APOH, POLR1C, RNPC3, LSM2
31tyrosine457.9HLA-A, FBN1, TNFRSF1B, HSPG2, HSPD1, RNPC3
32calcium45 51 26 1310.8HLA-A, FBN1, TNFRSF1B, HSPG2, HSPD1, APOH
33arginine457.6HLA-A, FBN1, TNFRSF1B, APOH, RNPC3, BMPR2
34serine457.1LSM2, FBN1, TNFRSF1B, HSPG2, POLR1C, DSG1

GO Terms for genes affiliated with Connective Tissue Disease

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

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.4BMPR2, ACVRL1, TNFRSF1B
2extracellular matrixGO:00310129.3FBN1, HSPG2, APOH
3extracellular spaceGO:00056158.7BMPR2, FBN1, HSPG2, HSPD1, APOH
4cell surfaceGO:00099868.6HSPD1, HLA-A, APOH, ACVRL1, BMPR2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:006084110.1BMPR2, ACVRL1
2negative regulation of endothelial cell migrationGO:001059610.1APOH, ACVRL1
3lymphatic endothelial cell differentiationGO:006083610.0BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:0200027910.0BMPR2, ACVRL1
5retina vasculature development in camera-type eyeGO:006129810.0ACVRL1, BMPR2
6artery developmentGO:006084010.0ACVRL1, BMPR2
7lymphangiogenesisGO:000194610.0BMPR2, ACVRL1
8activin receptor signaling pathwayGO:00329249.9ACVRL1, BMPR2
9positive regulation of BMP signaling pathwayGO:00305139.9BMPR2, ACVRL1
10negative regulation of endothelial cell proliferationGO:00019379.8APOH, ACVRL1
11positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8ACVRL1, BMPR2
12positive regulation of interferon-gamma productionGO:00327299.5HSPD1, HLA-A
13blood vessel remodelingGO:00019749.5BMPR2, ACVRL1

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00050249.8BMPR2, ACVRL1
2protein bindingGO:00055156.5LSM2, HLA-A, FBN1, TNFRSF1B, HSPG2, HSPD1

Products for genes affiliated with Connective Tissue Disease

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Sources for Connective Tissue Disease

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4CDC
15ExPASy
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26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
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37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
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48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet