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 renal disease/nephropathy, peripheral neuropathy and meningitis/meningeal syndrome. 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
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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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48Orphanet
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Symptoms:

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

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:

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Drug clinical trials:

Search ClinicalTrials for Mixed Connective Tissue Disease

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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, Testes, Monocytes, Skin, Tongue, Skeletal muscle, Colon, Kidney, Brain

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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Sources:
50PubMed
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Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Recurrent pneumothoraces in a 17-year-old man with mixed connective tissue disease. (24430177)
2014
2
Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease. (20722023)
2010
3
Chest abnormalities in juvenile-onset mixed connective tissue disease: assessment with high-resolution computed tomography and pulmonary function tests. (19277918)
2009
4
Diagnostic workup for mixed connective tissue disease in childhood. (18847172)
2008
5
Clinical and immunologic manifestations of mixed connective tissue disease in a Miami population compared to a Midwestern US Caucasian population. (18260175)
2008
6
Severe acute hepatitis related to hydroxychloroquine in a woman with mixed connective tissue disease. (16575495)
2007
7
Radionuclide imaging for the assessment of esophageal motility disorders in mixed connective tissue disease patients: relation to pulmonary impairment. (16984539)
2006
8
Pregnancy in mixed connective tissue disease. (16084321)
2005
9
Pediatric-onset mixed connective tissue disease. (16084320)
2005
10
Improved serological differentiation between systemic lupus erythematosus and mixed connective tissue disease by use of an SmD3 peptide-based immunoassay. (15642993)
2005
11
Retinal vasculitis and vitreous hemorrhage associated with mixed connective tissue disease: retinal vasculitis in MCTD. (17200794)
2005
12
Meningitis in mixed connective tissue disease complicated by herpes virus infection: case report. (14986060)
2004
13
Elevated circulating soluble CD40 ligand in patients with mixed connective tissue disease. (12605316)
2003
14
Mycobacterium avium arthritis with extra-articular abscess in a patient with mixed connective tissue disease. (12872451)
2003
15
Clinical significance of antibodies to TS1-RNA in patients with mixed connective tissue disease. (12734895)
2003
16
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
17
Spontaneous rupture of extensor tendons at the wrist in a patient with mixed connective tissue disease. (24387069)
2002
18
Efficacy of pulsed intravenous immunoglobulin therapy in mixed connective tissue disease. (11756958)
2002
19
Pregnancy outcome in nephrotic syndrome with mixed connective tissue disease. (11598404)
2001
20
A case of cholestatic autoimmune hepatitis and acute liver failure: an unusual hepatic manifestation of mixed connective tissue disease and SjAPgren's syndrome. (11511800)
2001
21
Inflammatory myopathy associated with mixed connective tissue disease and scleroderma renal crisis. (11745962)
2001
22
Minimal-change nephrotic syndrome associated with mixed connective-tissue disease. (11390743)
2001
23
Necrotizing fasciitis caused by Streptococcus pneumoniae in mixed connective tissue disease. (24383599)
2000
24
A case of Graves' disease associated with autoimmune hepatitis and mixed connective tissue disease. (10426583)
1999
25
Vasculitic neuropathy and myopathy occurring as a complication of mixed connective tissue disease. (10200818)
1999
26
A morbid course in a girl with mixed connective tissue disease. (10100290)
1999
27
Mixed connective tissue disease: a disease entity? (10374418)
1998
28
Pulmonary hypertension complicating mixed connective tissue disease. (9630191)
1998
29
Combined effects of diltiazem and oxygen in pulmonary hypertension of mixed connective tissue disease. (7799364)
1994
30
Mixed connective tissue disease associated with lupus lymphadenitis. (8441149)
1993
31
Anti-RA 33 antinuclear autoantibody in rheumatoid arthritis and mixed connective tissue disease: comparison with antikeratin and antiperinuclear antibodies. (7506130)
1993
32
Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. (8456439)
1993
33
Mixed connective tissue disease associated with protein losing enteropathy: successful treatment with intravenous cyclophosphamide therapy. (1300171)
1992
34
Lymphadenopathy in a 20-year-old woman with mixed connective tissue disease. (2031966)
1991
35
Esophageal involvement in mixed connective tissue disease. (1865414)
1991
36
Restrictive ventilatory defect associated with pulmonary hypertension in mixed connective tissue disease. (2313666)
1990
37
Polymorphonuclear functions in patients with mixed connective tissue disease. (2530862)
1989
38
B-cell proliferation and differentiation in systemic lupus erythematosus and mixed connective tissue disease. (3264025)
1988
39
Intracranial multiple berry aneurysms associated with fibromuscular dysplasia and mixed connective tissue disease--case report. (2441287)
1987
40
Excessive hypercalcaemia and mixed connective tissue disease. (3776702)
1986
41
Myocardial necrosis in a patient with mixed connective tissue disease. (3996075)
1985
42
Mixed connective tissue disease in childhood: case report and literature review. (3877170)
1985
43
Mixed connective tissue disease with fatal pulmonary hypertension and a review of literature. (6437068)
1984
44
Epidermal nuclear immunofluorescence. Is it a specific marker for mixed connective tissue disease? (6384307)
1984
45
On the prognosis of patients with mixed connective tissue disease. (6721891)
1984
46
Serial estimation of anti-RNP antibody titers in systemic lupus erythematosus, mixed connective tissue disease and rheumatoid arthritis. (6609234)
1984
47
Mixed connective tissue disease (Sharp syndrome): description of two cases. (6618858)
1983
48
Antibodies against distinct nuclear matrix proteins are characteristic for mixed connective tissue disease. (6352106)
1983
49
Clinical and laboratory findings in childhood mixed connective tissue disease: presence of antibody to ribonucleoprotein containing the small nuclear ribonucleic acid U1. (6189985)
1983
50
Transverse myelitis in mixed connective tissue disease. (737023)
1978

Genetic Variations for Mixed Connective Tissue Disease

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Expression for genes affiliated with Mixed Connective Tissue Disease

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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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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