MCTD
MCID: MXD005
MIFTS: 65

Mixed Connective Tissue Disease (MCTD) malady

Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases categories

Summaries for Mixed Connective Tissue Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 connective tissue disease and hypertension, and has symptoms including hemolytic anemia, purpura/petichiae and epigastralgia/heartburn/gastric/duodenal ulcer/gastritis. 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 lung, bone and t cells, 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:63 In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as... more...

Aliases & Classifications for Mixed Connective Tissue Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 10 44 48 60
mctd 42 48
connective tissue disease overlap syndrome 8
mixed collagen vascular disease 8
sharp syndrome 48


External Ids:

Disease Ontology8 DOID:3492
MeSH34 D008947
NCIt39 C84892
MESH via Orphanet35 D008947
ICD10 via Orphanet26 M35.1
SNOMED-CT via Orphanet57 398021003
UMLS via Orphanet61 C0026272

Related Diseases for Mixed Connective Tissue Disease

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

(show top 50)    (show all 207)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease32.2PRTN3, APOH, HLA-A, FBN1
2hypertension31.4BMPR2
3lupus erythematosus31.4SNRPA, SNRNP70, APOH
4systemic lupus erythematosus31.3HSPG2, HSPD1, HNRNPC, LSM2, S100A9, S100A8
5arthritis31.0HSPD1, S100A9, S100A8, TNFRSF1B, HLA-A, FBN1
6hepatitis30.9HLA-A, HSPD1, HSPG2
7vasculitis30.9HSPD1, S100A9, TNFRSF1B, APOH, PRTN3
8rheumatoid arthritis30.9HSPG2, HSPD1, HNRNPC, S100A9, S100A8, TNFRSF1B
9purpura30.9HSPG2
10autoimmune hepatitis30.8HLA-A, HSPD1, HSPG2
11myositis30.7RNPC3, SNRNP70, TNFRSF1B
12systemic scleroderma30.6SNRNP70
13ankylosing spondylitis30.6HSPD1, TNFRSF1B, FBN1, PRTN3
14vascular disease30.6HSPD1, APOH, BMPR2, PRTN3, ACVRL1
15pneumonia30.6TNFRSF1B, S100A8, HSPG2
16dermatomyositis30.5HSPG2, S100A9, S100A8, FBN1
17pancreatitis30.4HSPG2
18ischemia30.4HSPG2
19sarcoidosis30.4HLA-A, TNFRSF1B, S100A9
20arthropathy30.4TNFRSF1B, S100A8, S100A9
21pemphigus30.2DSG1
22myocarditis30.2TNFRSF1B
23diabetes mellitus30.2HLA-A, HSPD1
24hepatitis b30.2RNPC3, POLR1C, HLA-A
25influenza30.2HLA-A, POLR1C, RNPC3
26primary pulmonary hypertension30.2ACVRL1, FBN1, BMPR2
27psoriasis30.2HLA-A, TNFRSF1B, S100A8, S100A9
28coronary artery disease30.2FBN1, TNFRSF1B, S100A8, HSPD1
29leukemia30.2S100A9, S100A8, BMPR2, HLA-A, PRTN3
30atherosclerosis30.2HSPG2, HSPD1, S100A9, APOH, FBN1, PRTN3
31melanoma30.2HSPG2, HSPD1, HLA-A, PRTN3, DSG1
32lung cancer29.9HSPG2, HSPD1, HNRNPC, S100A8, TNFRSF1B, HLA-A
33scleroderma10.8
34esophageal disease10.6
35esophagitis10.6
36thrombotic thrombocytopenic purpura10.6
37meningitis10.6
38thyroiditis10.6
39hepatitis a10.5
40glomerulonephritis10.5
41hemorrhagic disease10.5
42muscle tissue disease10.5
43aseptic meningitis10.5
44capillary disease10.5
45neuropathy10.5
46cardiac tamponade10.4
47fasciitis10.4
48interstitial lung disease10.4
49nephrotic syndrome10.4
50spondylitis10.4

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

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Sources:
48Orphanet
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Symptoms:

48 (show all 44)
  • 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
  • arthritis/synovitis/synovial proliferation
  • abnormal scarring/cheloids/hypertrophic scars
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • musculo-tendinous retractions
  • hydrarthrosis/articular/joint effusion
  • articular/joint pain/arthralgia
  • fever/chilling
  • asthenia/fatigue/weakness
  • renal disease/nephropathy
  • restricted joint mobility/joint stiffness/ankylosis
  • osteonecrosis/bone infarction
  • psychic/behavioural troubles
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • seizures/epilepsy/absences/spasms/status epilepticus
  • lung fibrosis
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • osteolysis/osteoclasia/bone destruction/erosions
  • myocardium anomalies/myocarditis
  • pulmonary hypertension
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • myositis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • autoimmunity/autoimmune reaction/autoantibodies
  • myalgia/muscular pain
  • thoracic/chest pain
  • mouth dryness/xerostomia
  • peripheral neuropathy
  • cutaneous rash
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Mixed 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 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

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Anatomical Context for Mixed Connective Tissue Disease

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

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

Animal Models for Mixed Connective Tissue Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.7ACVRL1, FBN1, BMPR2, S100A8, HNRNPC, HSPD1

Publications for Mixed Connective Tissue Disease

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50PubMed
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Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Bamboo nodes associated with mixed connective tissue disease as a cause of hoarseness. (22083614)
2013
2
"To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. (21959290)
2012
3
Unnecessary life threatening complications after IVF in mixed connective tissue disease. (22492224)
2012
4
Spontaneous esophageal perforation in a patient with mixed connective tissue disease. (22279514)
2011
5
Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease: a case report. (21915182)
2011
6
Pulmonary manifestations of scleroderma and mixed connective tissue disease. (20692538)
2010
7
Fifteen-year experience of pediatric-onset mixed connective tissue disease. (19756834)
2010
8
Leg ulcer in mixed connective tissue disease. Resolution during sitaxsentan therapy]. (19156432)
2009
9
Persistently low glucose levels despite high-dose methylprednisolone in a woman with mixed connective tissue disease. (18848159)
2008
10
A case of mixed connective tissue disease complicated with hypertrophic obstructive cardiomyopathy. (18493766)
2008
11
Successful etanercept therapy for refractory sacroiliitis in a patient with ankylosing spondylitis and mixed connective tissue disease. (18306484)
2008
12
Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a retrospective analysis of twenty-three cases. (18240255)
2008
13
Ribosomal P protein P0 as a candidate for the target antigen of anti-endothelial cell antibodies in mixed connective tissue disease. (17888216)
2007
14
A case of mixed connective tissue disease complicated with thymic carcinoma and Hashimoto's thyroiditis. (17278025)
2007
15
Comment on: a case of Raynaud's phenomenon in mixed connective tissue disease responding to Rituximab therapy response. (17766999)
2007
16
Regulatory T cells in peripheral blood of patients with mixed connective tissue disease. (16882595)
2006
17
Human urinary trypsin inhibitor bolus infusion improved severe interstitial pneumonia in mixed connective tissue disease. (17029098)
2005
18
Rapidly progressed secondary amyloidosis in a patient with mixed connective tissue disease. (15497530)
2004
19
Increased levels of platelet-associated immunoglobulin G in a patient with mixed connective tissue disease. (12167733)
2002
20
A new conformational epitope generated by the binding of recombinant 70-kd protein and U1 RNA to anti-U1 RNP autoantibodies in sera from patients with mixed connective tissue disease. (12483732)
2002
21
A case of mixed connective tissue disease with cystic pancreatitis: successful treatment by cyclophosphamide. (17039115)
2001
22
Pulmonary involvement in mixed connective tissue disease: high-resolution CT findings in 41 patients. (11292211)
2001
23
Mixed connective tissue disease: overlap syndromes. (10882217)
2000
24
Severe mixed connective tissue disease in a woman with pure gonadal dysgenesis: estrogens do not influence disease expression. (10229418)
1999
25
Mixed connective tissue disease: to be or not to be? (9588728)
1998
26
Respiratory complications in mixed connective tissue disease. (9917963)
1998
27
Course of mixed connective tissue disease in children. (9453280)
1997
28
Mixed connective tissue disease and radiation toxicity. A case report. (9028375)
1997
29
Mixed connective tissue disease associated with acute polyradiculoneuropathy. (9099594)
1997
30
Pravastatin-induced rhabdomyolysis in a patient with mixed connective tissue disease. (8670341)
1996
31
Focal myositis presenting as pseudothrombophlebitis of the neck in a patient with mixed connective tissue disease. (8670340)
1996
32
Plasma endothelin correlates with antiendothelial antibodies in patients with mixed connective tissue disease. (7586267)
1995
33
Prevalence of autoimmune thyroid disease (AITD) in patients with mixed connective tissue disease (MCTD) (7641521)
1995
34
Mixed connective tissue disease and overlap syndromes. (8076270)
1994
35
A 35-year-old woman with mixed connective tissue disease who developed progressive dyspnea. (8089955)
1994
36
Mixed connective tissue disease associated with multicentric Castleman's disease. (8091149)
1994
37
Mixed connective tissue disease--a farewell? (8461935)
1993
38
Mixed connective tissue disease in childhood. (8256633)
1993
39
Recovery from pulmonary hypertension in an adolescent with mixed connective tissue disease. (1417105)
1992
40
Mixed connective tissue disease with arterial thrombosis, antiphospholipid antibodies and heparin induced thrombocytopenia. (2273496)
1990
41
Use of recombinant RNP peptides 70K and A in an ELISA for measurement of antibodies in mixed connective tissue disease: a longitudinal follow up of 18 patients. (2383062)
1990
42
Overlap syndromes, mixed connective tissue disease, and eosinophilic fasciitis. (2702056)
1989
43
Circulating lupus type anticoagulant and pulmonary hypertension associated with mixed connective tissue disease. (3082573)
1986
44
Nailfold capillary microscopy in mixed connective tissue disease. Comparison with systemic sclerosis and systemic lupus erythematosus. (3954804)
1986
45
A prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. (6700436)
1984
46
Pneumatosis intestinalis in mixed connective tissue disease: two case reports and literature review. (6487399)
1984
47
HBsAg-negative chronic active hepatitis and mixed connective tissue disease syndrome. An unusual association observed in two patients. (6731049)
1984
48
Mitral and tricuspid valve prolapse in a patient with mixed connective tissue disease. (6857311)
1983
49
Recurrent bilateral optic neuropathy in mixed connective tissue disease. (6224807)
1983
50
Mesangial proliferative glomerulonephritis in mixed connective tissue disease (MCTD). (7363519)
1980

Genetic Variations for Mixed Connective Tissue Disease

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Expression for genes affiliated with Mixed 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 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

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Mixed Connective Tissue Disease

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 24HMDB
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Compounds related to Mixed Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.6HSPD1, HSPG2
2ivig4410.5DSG1, APOH, TNFRSF1B
3infliximab44 49 1112.5PRTN3, APOH, TNFRSF1B
4toxin a4410.5DSG1, S100A8
5rituximab44 49 1112.5DSG1, PRTN3, APOH
6monosodium urate4410.5S100A8, S100A9
7neomycin4410.5HSPG2, HSPD1, RNPC3
8scca14410.4S100A8, S100A9
9p0024410.4TNFRSF1B, APOH, HLA-A, PRTN3
10rrna4410.4RNPC3, POLR1C, S100A8, HSPD1
11phosphatidylserine44 28 1112.4HSPG2, APOH, PRTN3, RNPC3
12fmlp4410.4PRTN3, TNFRSF1B, S100A9, HSPG2
13thalidomide44 49 59 1113.4S100A9, S100A8, TNFRSF1B
14dmso4410.3HSPG2, S100A9, S100A8, PRTN3
154-ipp5910.3S100A9, S100A8
16methotrexate44 49 1112.3S100A9, S100A8, TNFRSF1B, APOH
17polyacrylamide4410.3HSPD1, S100A9, S100A8, APOH
18gold4410.3HSPD1, S100A8, APOH, FBN1, PRTN3
19git 275910.3S100A9, S100A8
20endotoxin4410.3HSPD1, S100A9, S100A8, TNFRSF1B, APOH
21poly c4410.3HNRNPC, RNPC3
22propylthiouracil44 2 1112.3APOH
23superoxide44 2411.3HSPD1, S100A8, TNFRSF1B, APOH, PRTN3
24fibrinogen4410.2HSPD1, S100A9, TNFRSF1B, APOH
25oxygen44 2411.2S100A9, S100A8, TNFRSF1B, BMPR2, FBN1, PRTN3
26alanine4410.1HSPG2, HSPD1, S100A8, HLA-A, FBN1, PRTN3
27h2o24410.1HSPG2, HSPD1, HNRNPC, S100A9, TNFRSF1B
28adenylate4410.1HSPG2, HSPD1, HNRNPC, TNFRSF1B, HLA-A, SNRPA
29arginine4410.0HNRNPC, LSM2, TNFRSF1B, APOH, BMPR2, HLA-A
30cysteine4410.0HSPD1, S100A8, TNFRSF1B, BMPR2, SNRPA, FBN1
31zinc44 2411.0LSM2, S100A9, S100A8, TNFRSF1B, APOH, HLA-A
32atp44 2811.0HSPG2, HSPD1, LSM2, S100A9, APOH, SNRPA
33retinoic acid44 2411.0HSPG2, HSPD1, S100A9, S100A8, TNFRSF1B, FBN1
34lipid4410.0HSPD1, S100A9, S100A8, TNFRSF1B, APOH, BMPR2
35oligonucleotide449.9ACVRL1, RNPC3, HLA-A, TNFRSF1B, S100A8
36cholesterol44 28 11 2412.9HSPD1, S100A9, S100A8, TNFRSF1B, APOH
37homocysteine44 2410.9TNFRSF1B, APOH, FBN1
38serine449.7ACVRL1, LSM2, S100A8, TNFRSF1B, BMPR2, SNRNP70
39calcium44 49 11 2412.7HSPG2, HSPD1, S100A9, S100A8, TNFRSF1B, APOH
40tyrosine449.6S100A9, HNRNPC, HSPD1, HSPG2, S100A8, TNFRSF1B

GO Terms for genes affiliated with Mixed Connective Tissue Disease

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:03101210.1PRTN3, FBN1, APOH, HSPG2
2spliceosomal complexGO:0056819.8HNRNPC, SNRNP70, SNRPA
3extracellular spaceGO:0056159.7HSPG2, HSPD1, S100A9, S100A8, APOH, FBN1
4plasma membraneGO:0058869.4HSPD1, S100A9, S100A8, TNFRSF1B, BMPR2, HLA-DRB4

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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  • Antibodies
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  • Lysates
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Sources for Mixed Connective Tissue Disease

About this section
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