MCTD
MCID: MXD005
MIFTS: 60

Mixed Connective Tissue Disease (MCTD) malady

Neuronal, Nephrological, Respiratory, Bone, Cardiovascular categories

Summaries for Mixed Connective Tissue Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

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NIH Rare Diseases:43 Mixed connective tissue disease (mctd) is a autoimmune disorder that causes overlapping features of three connective tissue disorders: lupus, scleroderma, and polymyositis. mctd may also have features of rheumatoid arthritis. this condition is most often diagnosed in women in their 20's and 30's. occasionally, children are affected. at this time the cause of this condition is unknown. last updated: 1/9/2012

MalaCards: Mixed Connective Tissue Disease, also known as MCTD, is related to systemic lupus erythematosus and arthritis, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, seizures/epilepsy/absences/spasms/status epilepticus and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Mixed Connective Tissue Disease is ACVRL1 (activin A receptor type II-like 1), and among its related pathways are Allograft rejection and mRNA Splicing - Major Pathway. The compounds cycloheximide and ivig have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotype embryogenesis.

Disease Ontology:8 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

Wikipedia:64 In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as... more...

Aliases & Classifications for Mixed Connective Tissue Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Nephrological, Respiratory, Bone, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
mixed connective tissue disease:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

mixed connective tissue disease 8 43 10 45 49 61
mctd 43 49
connective tissue disease overlap syndrome 8
mixed collagen vascular disease 8
sharp syndrome 49


External Ids:

Disease Ontology8 DOID:3492
MeSH35 D008947
NCIt40 C84892
MESH via Orphanet36 D008947
ICD10 via Orphanet26 M35.1
SNOMED-CT via Orphanet58 398021003
UMLS via Orphanet62 C0026272

Related Diseases for Mixed Connective Tissue Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 196)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus31.4HSPG2, HSPD1, HNRNPC, LSM2, S100A9, S100A8
2arthritis31.0HSPD1, S100A9, S100A8, TNFRSF1B, HLA-A, FBN1
3vasculitis31.0HSPD1, S100A9, TNFRSF1B, APOH, PRTN3
4hepatitis c31.0HSPG2, HSPD1, HLA-A, PRTN3, RNPC3
5autoimmune hepatitis30.8HLA-A, HSPD1, HSPG2
6systemic scleroderma30.7SNRNP70
7ankylosing spondylitis30.7HSPD1, TNFRSF1B, FBN1, PRTN3
8polymyositis30.7HSPG2, S100A9, S100A8, TNFRSF1B, RNPC3
9vascular disease30.7HSPD1, APOH, BMPR2, PRTN3, ACVRL1
10arthropathy30.5TNFRSF1B, S100A8, S100A9
11pemphigus30.2DSG1
12primary pulmonary hypertension30.2ACVRL1, FBN1, BMPR2
13rheumatic disease30.2HNRNPC, LSM2, TNFRSF1B, APOH, RNPC3
14coronary artery disease,30.2FBN1, TNFRSF1B, S100A8, HSPD1
15atherosclerosis30.2HSPG2, HSPD1, S100A9, APOH, FBN1, PRTN3
16conn's syndrome11.0
17hepatitis d10.7
18n syndrome10.7
19hepatitis a10.6
20thrombotic thrombocytopenic purpura10.6
21raynaud disease10.6
22aseptic meningitis10.5
23thyroiditis10.5
24cardiac tamponade10.5
25spondylitis10.5
26vascular tissue disease10.5
27sharp syndrome10.5
28portal hypertension10.4
29protein-losing enteropathy10.4
30pneumatosis cystoides intestinalis10.4
31thrombocytopenia10.4
32kikuchi disease10.4
33mitral valve prolapse10.3
34myelitis10.3
35klinefelter's syndrome10.3
36protein c deficiency10.3
37retinal vasculitis10.3
38amyloidosis10.3
39aneurysm disease10.3
40spondyloarthropathy10.3
41char syndrome10.3
42chondrodysplasia10.3
43eosinophilic fasciitis10.3
44transverse myelitis10.3
45atlantoaxial subluxation10.3
46acute liver failure10.2
47atrioventricular block10.2
48gout10.2
49neurofibromatosis10.2
50pulmonary systemic sclerosis10.2

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



Diseases related to mixed connective tissue disease

Clinical Features for Mixed Connective Tissue Disease

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 44)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • psychic/behavioural troubles
  • osteonecrosis/bone infarction
  • arthritis/synovitis/synovial proliferation
  • restricted joint mobility/joint stiffness/ankylosis
  • renal disease/nephropathy
  • asthenia/fatigue/weakness
  • fever/chilling
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • musculo-tendinous retractions
  • lung fibrosis
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • cutaneous rash
  • peripheral neuropathy
  • mouth dryness/xerostomia
  • thoracic/chest pain
  • myalgia/muscular pain
  • autoimmunity/autoimmune reaction/autoantibodies
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • myositis
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • pulmonary hypertension
  • myocardium anomalies/myocarditis
  • osteolysis/osteoclasia/bone destruction/erosions
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • abnormal scarring/cheloids/hypertrophic scars
  • hemolytic anemia
  • purpura/petichiae
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • meningitis/meningeal syndrome
  • mediastinal/hilar adenopathies
  • lymphadenopathy/polyadenopathies
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • alopecia
  • xerophthalmia/dry eyes
  • leukopenia/hypoleukocytosis

Drugs & Therapeutics for Mixed Connective Tissue Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Mixed Connective Tissue Disease

Drug clinical trials:

Search ClinicalTrials for Mixed Connective Tissue Disease

Search NIH Clinical Center for Mixed Connective Tissue Disease

Search CenterWatch for Mixed Connective Tissue Disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mixed Connective Tissue Disease:

33
Skin, Liver, Tongue, Brain, Kidney, Lung, Heart, Skeletal muscle, Small intestine, Colon, Thyroid, Monocytes, T cells, B cells, Endothelial, Atrioventricular node

Animal Models for Mixed Connective Tissue Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.7ACVRL1, FBN1, BMPR2, S100A8, HNRNPC, HSPD1

Publications for Mixed Connective Tissue Disease

Sources:
51PubMed
See all sources

Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease. (23632618)
2013
2
A case of subacute cutaneous lupus erythematosus in a patient with mixed connective tissue disease: successful treatment with plasmapheresis and rituximab. (23984162)
2013
3
Derailed B cell homeostasis in patients with mixed connective tissue disease. (23608739)
2013
4
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
5
Epstein-Barr virus-negative, CD5-positive diffuse large B-cell lymphoma developing after treatment with oral tacrolimus for mixed connective tissue disease : a case report and review of the literature. (23269082)
2012
6
Efficacy of bosentan in the treatment of a patient with mixed connective tissue disease complicated by pulmonary arterial hypertension. (19653056)
2010
7
Mixed connective tissue disorder and Castleman's disease. (21189705)
2010
8
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
9
Human voltage-dependent anion selective channel 1 is a target antigen for antiglomerular endothelial cell antibody in mixed connective tissue disease. (18568384)
2008
10
Rapid improvement of nailfold capillaroscopy after intense immunosuppression for systemic sclerosis and mixed connective tissue disease. (18556454)
2008
11
Mixed connective tissue disease. (16634365)
2006
12
Autoantibodies in the pathogenesis of mixed connective tissue disease. (16084317)
2005
13
Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. (15743477)
2005
14
Raynaud's phenomenon in mixed connective tissue disease. (16084319)
2005
15
A case of mixed connective tissue disease presenting with nephrotic syndrome. (17143681)
2004
16
Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. (15459817)
2004
17
Osteoporosis in mixed connective tissue disease. (14505213)
2003
18
Tumor necrosis factor-alpha antagonists induce lupus-like syndrome in patients with scleroderma overlap/mixed connective tissue disease. (14719225)
2003
19
Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease. (12111089)
2002
20
Prolonged sensory and motor deficit following short-term lumbar epidural analgesia in a patient with mixed connective tissue disease. (11844626)
2002
21
Mixed connective tissue disease following interstitial cystitis. (11174138)
2001
22
Twenty-four hour intraesophageal pH monitoring in children and adolescents with scleroderma and mixed connective tissue disease. (11093455)
2000
23
Mixed connective tissue disease associated with chronic inflammatory demyelinating polyneuropathy. (10568432)
1999
24
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
25
Kikuchi's lymphadenitis developing in a patient with mixed connective tissue disease and Hashimoto's thyroiditis. (9402878)
1997
26
Brain hemorrhage in mixed connective tissue disease. A case report. (7978512)
1994
27
Sclerodermatous renal crisis in a patient with mixed connective tissue disease. (8048428)
1994
28
Opportunistic infections and profound CD8+ T lymphocytopenia in mixed connective tissue disease. (8228379)
1993
29
Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythematosus. (8481653)
1993
30
The dysfunction of peripheral blood dendritic cells in patients with mixed connective tissue disease. (8347095)
1993
31
Antibodies to casein kinase II in sera of patients with mixed connective tissue disease: evaluation with recombinant proteins. (8252720)
1993
32
Ten year survival of a patient with advanced pulmonary hypertension and mixed connective tissue disease treated with immunosuppressive therapy. (1491407)
1992
33
Pleuritis-pericarditis--an unusual initial manifestation of mixed connective tissue disease. (1623882)
1992
34
Mixed connective tissue disease associated with autoimmune hepatitis and thyroiditis. (1586260)
1992
35
A case of Sweet's syndrome (acute febrile neutrophilic dermatosis) associated with mixed connective tissue disease]. (1411796)
1992
36
Japanese diagnostic criteria for mixed connective tissue disease in Caucasian patients. (1629824)
1992
37
Clinical significance of IgG subclasses of Anti-Sm and U1 ribonucleoprotein antibodies in patients with systemic lupus erythematosus and mixed connective tissue disease. (1837028)
1991
38
Tongue atrophy in mixed connective tissue disease. (2011351)
1991
39
Monocyte functions in patients with mixed connective tissue disease. (2526572)
1989
40
Mixed connective tissue disease after exposure to polyvinyl chloride. (2746593)
1989
41
Mixed connective tissue disease. (3051094)
1988
42
Mixed connective tissue disease: report of a case with fatal outcome. (3667362)
1987
43
Acute scleroderma in stable mixed connective tissue disease: treatment by plasmapheresis. (3675385)
1987
44
Neuropsychiatric disorders in mixed connective tissue disease. (3708240)
1986
45
Detection of antinuclear ribonucleoprotein (nRNP) antibody producing cells in peripheral blood lymphocytes from patients with mixed connective tissue disease. (3910834)
1985
46
Mixed connective tissue disease in pregnancy: report of a case. (4096747)
1985
47
Mixed connective tissue disease, SjAPgren's syndrome, and abdominal pseudolymphoma. (3872150)
1985
48
The arthropathy of systemic sclerosis (scleroderma); comparison with mixed connective tissue disease. (6335854)
1983
49
The speckled epidermal nuclear immunofluorescence of mixed connective tissue disease seems to develop as an in vitro phenomenon. (6756463)
1982
50
Acute pandysautonomia due to mixed connective tissue disease. (6941781)
1981

Genetic Variations for Mixed Connective Tissue Disease

Expression for genes affiliated with Mixed Connective Tissue Disease

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

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

Pathways for genes affiliated with Mixed Connective Tissue Disease

Sources:
30KEGG, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Mixed Connective Tissue Disease

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 24HMDB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.6HSPD1, HSPG2
2ivig4510.5DSG1, APOH, TNFRSF1B
3infliximab45 50 1112.5PRTN3, APOH, TNFRSF1B
4toxin a4510.5DSG1, S100A8
5rituximab45 50 1112.5DSG1, PRTN3, APOH
6monosodium urate4510.5S100A8, S100A9
7neomycin4510.5HSPG2, HSPD1, RNPC3
8scca14510.4S100A8, S100A9
9p0024510.4TNFRSF1B, APOH, HLA-A, PRTN3
10rrna4510.4RNPC3, POLR1C, S100A8, HSPD1
11phosphatidylserine45 29 1112.4HSPG2, APOH, PRTN3, RNPC3
12fmlp4510.4PRTN3, TNFRSF1B, S100A9, HSPG2
13thalidomide45 50 60 1113.4S100A9, S100A8, TNFRSF1B
14dmso4510.3HSPG2, S100A9, S100A8, PRTN3
154-ipp6010.3S100A9, S100A8
16methotrexate45 50 1112.3S100A9, S100A8, TNFRSF1B, APOH
17polyacrylamide4510.3HSPD1, S100A9, S100A8, APOH
18gold4510.3HSPD1, S100A8, APOH, FBN1, PRTN3
19git 276010.3S100A9, S100A8
20endotoxin4510.3HSPD1, S100A9, S100A8, TNFRSF1B, APOH
21poly c4510.3HNRNPC, RNPC3
22propylthiouracil45 2 1112.3APOH
23superoxide45 2411.3HSPD1, S100A8, TNFRSF1B, APOH, PRTN3
24fibrinogen4510.2HSPD1, S100A9, TNFRSF1B, APOH
25oxygen45 2411.2S100A9, S100A8, TNFRSF1B, BMPR2, FBN1, PRTN3
26alanine4510.1HSPG2, HSPD1, S100A8, HLA-A, FBN1, PRTN3
27h2o24510.1HSPG2, HSPD1, HNRNPC, S100A9, TNFRSF1B
28adenylate4510.1HSPG2, HSPD1, HNRNPC, TNFRSF1B, HLA-A, SNRPA
29arginine4510.0HNRNPC, LSM2, TNFRSF1B, APOH, BMPR2, HLA-A
30cysteine4510.0HSPD1, S100A8, TNFRSF1B, BMPR2, SNRPA, FBN1
31zinc45 2411.0LSM2, S100A9, S100A8, TNFRSF1B, APOH, HLA-A
32atp45 2911.0HSPG2, HSPD1, LSM2, S100A9, APOH, SNRPA
33retinoic acid45 2411.0HSPG2, HSPD1, S100A9, S100A8, TNFRSF1B, FBN1
34lipid4510.0HSPD1, S100A9, S100A8, TNFRSF1B, APOH, BMPR2
35oligonucleotide459.9ACVRL1, RNPC3, HLA-A, TNFRSF1B, S100A8
36cholesterol45 29 11 2412.9HSPD1, S100A9, S100A8, TNFRSF1B, APOH
37homocysteine45 2410.9TNFRSF1B, APOH, FBN1
38serine459.7ACVRL1, LSM2, S100A8, TNFRSF1B, BMPR2, SNRNP70
39calcium45 50 11 2412.7HSPG2, HSPD1, S100A9, S100A8, TNFRSF1B, APOH
40tyrosine459.6S100A9, HNRNPC, HSPD1, HSPG2, S100A8, TNFRSF1B

GO Terms for genes affiliated with Mixed Connective Tissue Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:03101210.1HSPG2, APOH, FBN1, PRTN3
2spliceosomal complexGO:0056819.8SNRPA, HNRNPC, SNRNP70
3extracellular spaceGO:0056159.7FBN1, HSPG2, HSPD1, S100A9, APOH, S100A8
4plasma membraneGO:0058869.4HSPG2, HSPD1, S100A9, S100A8, TNFRSF1B, BMPR2

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.6BMPR2, ACVRL1
2lymphatic endothelial cell differentiationGO:06083610.6ACVRL1, BMPR2
3negative regulation of DNA biosynthetic processGO:200027910.5BMPR2, ACVRL1
4neutrophil aggregationGO:07048810.5S100A9, S100A8
5artery developmentGO:06084010.5ACVRL1, BMPR2
6chemokine productionGO:03260210.5S100A9, S100A8
7sequestering of zinc ionGO:03211910.5S100A9, S100A8
8retina vasculature development in camera-type eyeGO:06129810.5ACVRL1, BMPR2
9leukocyte migration involved in inflammatory responseGO:00252310.4S100A9, S100A8
10lymphangiogenesisGO:00194610.4BMPR2, ACVRL1
11chronic inflammatory responseGO:00254410.3S100A9, S100A8
12negative regulation of endothelial cell migrationGO:01059610.3ACVRL1, APOH
13mRNA splicing, via spliceosomeGO:00039810.2HNRNPC, LSM2, SNRNP70, SNRPA
14activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00691910.2S100A8, S100A9, HSPD1
15RNA splicingGO:00838010.2RNPC3, SNRPA, SNRNP70, LSM2, HNRNPC
16regulation of cytoskeleton organizationGO:05149310.1S100A9, S100A8
17detection of bacteriumGO:01604510.0HLA-DRB4, HLA-A
18gene expressionGO:0104679.9POLR1C, SNRPA, SNRNP70, LSM2, HNRNPC

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

idNameGO IDScoreTop Affiliating Genes
1Toll-like receptor 4 bindingGO:03566210.3S100A8, S100A9
2arachidonic acid bindingGO:05054410.2S100A9, S100A8
3RAGE receptor bindingGO:05078610.1S100A8, S100A9
4transforming growth factor beta-activated receptor activityGO:00502410.0ACVRL1, BMPR2
5nucleotide bindingGO:00016610.0RNPC3, SNRPA, SNRNP70, HNRNPC
6protein bindingGO:0055158.9ACVRL1, HSPG2, HSPD1, HNRNPC, LSM2, S100A9

Products for genes affiliated with Mixed Connective Tissue Disease

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Sources for Mixed Connective Tissue Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet