MCID: CNN005
MIFTS: 58

Connective Tissue Disease malady

Muscle diseases category
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Summaries for Connective Tissue Disease

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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 based summary: Connective Tissue Disease, also known as disorder of connective tissue, is related to purpura and rheumatic disease. 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:8 A tissue 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 8 65 10
Disorder of Connective Tissue 8 62
Connective Tissue Disorders 33 62
Connective Tissue Diseases 44 62
 
Other Musculoskelet/connectiv 8
Connective Tissue Disorder 8
Connective Tissue Dis. 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:65
NCIt39 C26729
MeSH34 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 384)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.4HSPG2
2rheumatic disease31.2FBN1
3vasculitis30.8TNFRSF1B, HSPD1, APOH
4polymyositis30.8RNPC3, HSPG2, TNFRSF1B
5dermatomyositis30.8HSPG2, FBN1
6ankylosing spondylitis30.7TNFRSF1B, HLA-A
7lupus nephritis30.7APOH, TNFRSF1B
8antiphospholipid syndrome30.6HSPG2, APOH
9arthritis30.6HSPD1, TNFRSF1B, FBN1, HLA-A
10hepatitis30.6HSPD1, HSPG2, HLA-A
11primary biliary cirrhosis30.5RNPC3, HSPD1, HSPG2
12autoimmune hepatitis30.4HSPD1, HSPG2, HLA-A
13hepatitis b30.3HLA-A, POLR1C, RNPC3
14primary pulmonary hypertension30.2BMPR2, ACVRL1, FBN1
15influenza30.1HLA-A, POLR1C, RNPC3
16vascular disease30.0HSPD1, APOH, ACVRL1, BMPR2
17atherosclerosis29.9FBN1, HSPG2, HSPD1, APOH, ACVRL1
18rheumatoid arthritis29.6HLA-A, TNFRSF1B, HSPG2, HSPD1, APOH, POLR1C
19systemic scleroderma29.6HLA-A, FBN1, HSPG2, APOH, POLR1C, RNPC3
20systemic lupus erythematosus29.5RNPC3, POLR1C, APOH, HSPD1, HSPG2, TNFRSF1B
21multiple sclerosis29.4HLA-A, TNFRSF1B, HSPG2, HSPD1
22mixed connective tissue disease29.4LSM2, HNRNPDL, BMPR2, ACVRL1, RNPC3, DSG1
23behcet's disease29.4HLA-A, TNFRSF1B, HSPG2, HSPD1, APOH
24lung cancer29.2HLA-A, TNFRSF1B, HSPG2, HSPD1, DSG1
25melanoma29.1HLA-A, HSPG2, HSPD1, DSG1
26hypertension10.9
27lupus erythematosus10.8
28interstitial lung disease10.8
29pulmonary hypertension10.8
30scleroderma10.7
31pneumonia10.6
32endotheliitis10.5
33pulmonary fibrosis10.5
34esophagitis10.5
35thrombotic thrombocytopenic purpura10.5
36thyroiditis10.5
37congenital heart block10.4
38glomerulonephritis10.4
39meningitis10.4
40osteoporosis-pseudoglioma syndrome10.4
41muscle disorders10.4
42cardiac tamponade10.4
43aseptic meningitis10.4
44protein-losing enteropathy10.4
45calcinosis10.4
46fasciitis10.4
47myositis10.4
48spinal muscular atrophy10.4RNPC3, LSM2
49paget's disease of bone10.3
50osteopoikilosis10.3

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:

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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:

32
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:

36
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 940)
idTitleAuthorsYear
1
Pulmonary arterial hypertension related to connective tissue disease: a review. (24268012)
2014
2
Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease. (23632618)
2013
3
Cardiac involvement in mixed connective tissue disease: A systematic review. (24433611)
2013
4
Connective Tissue Disease-Associated Interstitial Lung Disease: A Focused Review. (24371251)
2013
5
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
6
Assessment of the 'no eosinophils' rule: are eosinophils truly absent in pityriasis lichenoides, connective tissue disease, and graft-vs.-host disease? (22443393)
2012
7
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
8
Calcinosis cutis in autoimmune connective tissue diseases. (22741938)
2012
9
Survival and extrapulmonary course of connective tissue disease after lung transplantation. (22955476)
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
Diagnostic workup for mixed connective tissue disease in childhood. (18847172)
2008
16
Clinical and molecular overlap between myopathies and inherited connective tissue diseases. (18818079)
2008
17
Ribosomal P protein P0 as a candidate for the target antigen of anti-endothelial cell antibodies in mixed connective tissue disease. (17888216)
2007
18
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
19
Reversible posterior leucoencephalopathy syndrome in a patient with undifferentiated connective tissue disease. (16766377)
2006
20
Congenital complete heart block and maternal connective tissue disease. (16815568)
2006
21
Semiquantitative assessment of the intestinal motility in chronic intestinal pseudo-obstruction in systemic sclerosis and mixed connective tissue disease by Sitzmarks capsule. (17039319)
2006
22
Serum levels of anti-agalactosyl IgG antibodies in mixed connective tissue disease. (15840122)
2005
23
Serum levels of manganese superoxide dismutase in patients with mixed connective tissue disease. (16095129)
2005
24
Procedures related to connective tissue disease. (15939367)
2005
25
Abnormalities of serum antielastin antibodies in connective tissue diseases. (12643515)
2003
26
Five-year follow-up of 665 Hungarian patients with undifferentiated connective tissue disease (UCTD). (12846049)
2003
27
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
28
Clinical microbiological case: a firm, right infraclavicular mass in an adult woman with connective tissue disease. (12390286)
2002
29
Choroidal vascular occlusion in a child with a connective tissue disease and complement C4 deficiency. (12093649)
2002
30
Pregnancy outcome in nephrotic syndrome with mixed connective tissue disease. (11598404)
2001
31
Renal crisis due to intimal hyperplasia in a patient with mixed connective tissue disease (MCTD) accompanied by pulmonary hypertension. (11813854)
2001
32
Mixed connective tissue disease. (10990174)
2000
33
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
34
Anti-RNP antibody in a child with undifferentiated carcinoma and no evidence of mixed connective tissue disease. (9133950)
1997
35
Autoimmune response to the spliceosome. An immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. (7779120)
1995
36
Increased serum angiotensin I-converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. (7863277)
1995
37
Brain hemorrhage in mixed connective tissue disease. A case report. (7978512)
1994
38
Orofacial manifestations of mixed connective tissue disease. (2334610)
1990
39
Resorptive arthropathy and rib erosions in mixed connective tissue disease. (2359089)
1990
40
Muscle ultrastructure in a case of mixed connective tissue disease and SjAPgren's syndrome. (2520352)
1989
41
Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis. (2789110)
1989
42
An adult case of mixed connective tissue disease associated with perimyocarditis and massive pericardial effusion. (3723788)
1986
43
Disseminated nocardiosis in a patient with mixed connective tissue disease. (4095403)
1985
44
Secretory diarrhea in mixed connective tissue disease. (3969997)
1985
45
Mitral and tricuspid valve prolapse in a patient with mixed connective tissue disease. (6857311)
1983
46
Cardiovascular manifestations of mixed connective tissue disease in adults. (6640871)
1983
47
Mixed connective tissue disease (Sharp syndrome): description of two cases. (6618858)
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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Expression patterns in normal tissues for genes affiliated with Connective Tissue Disease

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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
1quinacrine44 1111.1APOH, HSPG2
2homocysteine44 2410.9FBN1, TNFRSF1B, APOH
3ivig449.9TNFRSF1B, APOH, DSG1
4gold449.8FBN1, HSPD1, APOH
5cardiolipin44 1110.7RNPC3, APOH
6endotoxin449.7TNFRSF1B, HSPD1, APOH
7mannose449.7BMPR2, APOH, HSPD1
8p002449.7HLA-A, TNFRSF1B, APOH
9etanercept44 50 1111.5APOH, TNFRSF1B
10nitrate449.5HSPD1, TNFRSF1B
11phosphatidylserine44 28 1111.5RNPC3, APOH, HSPG2
12trna449.5RNPC3, POLR1C
13neomycin449.4RNPC3, HSPD1, HSPG2
14rrna449.4RNPC3, POLR1C, HSPD1
15fibrinogen449.4TNFRSF1B, HSPD1, APOH
16progesterone44 28 61 24 1113.4BMPR2, APOH, HSPD1, FBN1
17glutamate449.3FBN1, HSPG2, HSPD1, APOH
18cycloheximide449.3POLR1C, HSPD1, HSPG2, TNFRSF1B
19vegf449.1TNFRSF1B, HSPG2, HSPD1, APOH, ACVRL1
20retinoic acid44 2410.1DSG1, HSPD1, HSPG2, TNFRSF1B, FBN1
21oxygen44 2410.1BMPR2, APOH, HSPD1, TNFRSF1B, FBN1
22magnesium44 24 1111.0POLR1C, RNPC3, ACVRL1, BMPR2
23alanine449.0HSPD1, HSPG2, FBN1, HLA-A
24lipid449.0FBN1, TNFRSF1B, HSPD1, APOH, BMPR2
25oligonucleotide448.9HLA-A, TNFRSF1B, RNPC3, ACVRL1
26cyclosporin a44 28 6110.9RNPC3, HSPD1, TNFRSF1B, HLA-A
27gtp44 289.7HSPG2, POLR1C, RNPC3, LSM2
28adenylate448.6HLA-A, TNFRSF1B, HSPG2, HSPD1, RNPC3
29atp44 289.0HSPG2, HSPD1, APOH, POLR1C, RNPC3, LSM2
30zinc44 248.9HLA-A, TNFRSF1B, APOH, POLR1C, RNPC3, LSM2
31tyrosine447.9HLA-A, FBN1, TNFRSF1B, HSPG2, HSPD1, RNPC3
32calcium44 50 24 1110.8HLA-A, FBN1, TNFRSF1B, HSPG2, HSPD1, APOH
33arginine447.6HLA-A, FBN1, TNFRSF1B, APOH, RNPC3, BMPR2
34serine447.1LSM2, 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:0430259.4BMPR2, ACVRL1, TNFRSF1B
2extracellular matrixGO:0310129.3APOH, HSPG2, FBN1
3extracellular spaceGO:0056158.7FBN1, HSPG2, HSPD1, APOH, BMPR2
4cell surfaceGO:0099868.6BMPR2, ACVRL1, APOH, HSPD1, HLA-A

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.1BMPR2, ACVRL1
2negative regulation of endothelial cell migrationGO:01059610.1APOH, ACVRL1
3lymphatic endothelial cell differentiationGO:06083610.0BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:200027910.0BMPR2, ACVRL1
5retina vasculature development in camera-type eyeGO:06129810.0ACVRL1, BMPR2
6artery developmentGO:06084010.0ACVRL1, BMPR2
7lymphangiogenesisGO:00194610.0BMPR2, ACVRL1
8activin receptor signaling pathwayGO:0329249.9ACVRL1, BMPR2
9positive regulation of BMP signaling pathwayGO:0305139.9BMPR2, ACVRL1
10negative regulation of endothelial cell proliferationGO:0019379.8APOH, ACVRL1
11positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.8ACVRL1, BMPR2
12positive regulation of interferon-gamma productionGO:0327299.5HSPD1, HLA-A
13blood vessel remodelingGO:0019749.5BMPR2, ACVRL1

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:0050249.8BMPR2, ACVRL1
2protein bindingGO:0055156.5LSM2, 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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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