MCTD
MCID: MXD005
MIFTS: 63

Mixed Connective Tissue Disease (MCTD) malady

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

Summaries for Mixed Connective Tissue Disease

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Mixed connective tissue disease (mctd) is an 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 20s and 30s. occasionally, children are affected. at this time the cause of this condition is unknown. treatment may involve the use of nonsteroidal anti-inflammatory drugs (nsaids), antimalarials, and/or corticosteroids. in cases with severe visceral involvement, additional immunosuppressants may be needed. last updated: 6/2/2014

MalaCards: Mixed Connective Tissue Disease, also known as MCTD, is related to connective tissue disease and systemic lupus erythematosus, 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 ALK1 signaling events and TGF-beta Signaling Pathway. The compounds rituximab and quinacrine have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and t cells, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:9 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:66 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:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 44 11 46 50 63
mctd 44 50
connective tissue disease overlap syndrome 9
mixed collagen vascular disease 9
sharp syndrome 50


External Ids:

Disease Ontology9 DOID:3492
MeSH36 D008947
NCIt41 C84892
MESH via Orphanet37 D008947
ICD10 via Orphanet27 M35.1
SNOMED-CT via Orphanet60 398021003
UMLS via Orphanet64 C0026272

Related Diseases for Mixed Connective Tissue Disease

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to mixed connective tissue disease

Symptoms for Mixed Connective Tissue Disease

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50Orphanet
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Symptoms:

50 (show all 44)
  • hemolytic anemia
  • purpura/petichiae
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • meningitis/meningeal syndrome
  • alopecia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • mediastinal/hilar adenopathies
  • lymphadenopathy/polyadenopathies
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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34MalaCards
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MalaCards organs/tissues related to Mixed Connective Tissue Disease:

34
Lung, Bone, T cells, Liver, Endothelial, Thyroid, Eye, B cells, Heart, Skin, Monocytes, Testes, Brain, Tongue, Kidney, Skeletal muscle, Colon

Animal Models for Mixed Connective Tissue Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4BMPR2, ACVRL1, HSPG2, TNFRSF1B
2MP:00053698.3TNFRSF1B, HSPG2, ACVRL1, BMPR2
3MP:00053858.3BMPR2, ACVRL1, HSPG2, TNFRSF1B
4MP:00053767.7TNFRSF1B, HSPG2, APOH, ACVRL1, BMPR2
5MP:00107687.5TNFRSF1B, HSPG2, APOH, ACVRL1, BMPR2

Publications for Mixed Connective Tissue Disease

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53PubMed
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Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease. (23632618)
2013
2
Cardiac involvement in mixed connective tissue disease: A systematic review. (24433611)
2013
3
Rapid progression to pulmonary arterial hypertension crisis associated with mixed connective tissue disease in an 11-year-old girl. (23686514)
2013
4
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
5
Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment. (22424193)
2012
6
Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration. (20890626)
2011
7
Spontaneous esophageal perforation in a patient with mixed connective tissue disease. (22279514)
2011
8
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
9
Efficacy of bosentan in the treatment of a patient with mixed connective tissue disease complicated by pulmonary arterial hypertension. (19653056)
2010
10
Leg ulcer in mixed connective tissue disease. Resolution during sitaxsentan therapy]. (19156432)
2009
11
Diagnostic workup for mixed connective tissue disease in childhood. (18847172)
2008
12
Ribosomal P protein P0 as a candidate for the target antigen of anti-endothelial cell antibodies in mixed connective tissue disease. (17888216)
2007
13
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
14
Semiquantitative assessment of the intestinal motility in chronic intestinal pseudo-obstruction in systemic sclerosis and mixed connective tissue disease by Sitzmarks capsule. (17039319)
2006
15
Clinical and immunoserological characteristics of mixed connective tissue disease associated with pulmonary arterial hypertension. (16784493)
2006
16
Rheumatoid factor isotypes in mixed connective tissue disease. (16391886)
2006
17
Serum levels of anti-agalactosyl IgG antibodies in mixed connective tissue disease. (15840122)
2005
18
Serum levels of manganese superoxide dismutase in patients with mixed connective tissue disease. (16095129)
2005
19
Pregnancy in mixed connective tissue disease. (16084321)
2005
20
The prognosis of mixed connective tissue disease. (16084324)
2005
21
Cardiac tamponade due to massive pericardial effusion in mixed connective tissue disease: reversal with steroid therapy. (15470773)
2004
22
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
23
Pregnancy outcome in nephrotic syndrome with mixed connective tissue disease. (11598404)
2001
24
Renal crisis due to intimal hyperplasia in a patient with mixed connective tissue disease (MCTD) accompanied by pulmonary hypertension. (11813854)
2001
25
Mixed connective tissue disease. (10990174)
2000
26
A case of Graves' disease associated with autoimmune hepatitis and mixed connective tissue disease. (10426583)
1999
27
Mixed connective tissue disease: a disease entity? (10374418)
1998
28
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
29
Anti-RNP antibody in a child with undifferentiated carcinoma and no evidence of mixed connective tissue disease. (9133950)
1997
30
Anti-endothelial cell antibodies in the sera of patients with mixed connective tissue disease--the clinical significance. (9431781)
1997
31
Pravastatin-induced rhabdomyolysis in a patient with mixed connective tissue disease. (8670341)
1996
32
Autoimmune response to the spliceosome. An immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. (7779120)
1995
33
Increased serum angiotensin I-converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. (7863277)
1995
34
Does mixed connective tissue disease exist in India? (7633796)
1995
35
Brain hemorrhage in mixed connective tissue disease. A case report. (7978512)
1994
36
Hypertrophic cranial pachymeningitis associated with mixed connective tissue disease; a comparison with idiopathic and infectious pachymeningitis. (8241599)
1993
37
Orofacial manifestations of mixed connective tissue disease. (2334610)
1990
38
Resorptive arthropathy and rib erosions in mixed connective tissue disease. (2359089)
1990
39
Muscle ultrastructure in a case of mixed connective tissue disease and SjAPgren's syndrome. (2520352)
1989
40
Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis. (2789110)
1989
41
Pure red cell aplasia in mixed connective tissue disease. (2509697)
1989
42
An adult case of mixed connective tissue disease associated with perimyocarditis and massive pericardial effusion. (3723788)
1986
43
Late onset mixed connective tissue disease. (3723514)
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
Detection of antinuclear ribonucleoprotein (nRNP) antibody producing cells in peripheral blood lymphocytes from patients with mixed connective tissue disease. (3910834)
1985
47
Mitral and tricuspid valve prolapse in a patient with mixed connective tissue disease. (6857311)
1983
48
Cardiovascular manifestations of mixed connective tissue disease in adults. (6640871)
1983
49
Mixed connective tissue disease (Sharp syndrome): description of two cases. (6618858)
1983
50
Mesangial proliferative glomerulonephritis in mixed connective tissue disease (MCTD). (7363519)
1980

Variations for Mixed Connective Tissue Disease

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Expression for genes affiliated with Mixed Connective Tissue Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mixed Connective Tissue Disease

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Pathways for genes affiliated with Mixed Connective Tissue Disease

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51PathCards, 39NCBI BioSystems Database, 58SinoBiological, 54QIAGEN, 56Reactome, 31KEGG
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Compounds for genes affiliated with Mixed Connective Tissue Disease

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Mixed Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1rituximab46 52 1211.8APOH, DSG1
2quinacrine46 1210.8HSPG2, APOH
3pge1469.7HSPG2, APOH
4etanercept46 52 1211.7TNFRSF1B, APOH
5infliximab46 52 1211.7TNFRSF1B, APOH
6thromboxane a246 2510.7HSPG2, APOH
7homocysteine46 2510.6TNFRSF1B, APOH
8p002469.5TNFRSF1B, APOH
9ivig469.3TNFRSF1B, APOH, DSG1
10cycloheximide469.1TNFRSF1B, HSPG2, POLR1C
11vegf468.9ACVRL1, APOH, HSPG2, TNFRSF1B
12magnesium46 25 1210.8BMPR2, ACVRL1, POLR1C
13zinc46 259.8TNFRSF1B, POLR1C, APOH
14arginine468.7BMPR2, APOH, TNFRSF1B
15Adenosine triphosphate25 129.7BMPR2, ACVRL1, POLR1C
16nitric oxide46 25 1210.5TNFRSF1B, BMPR2, APOH
17threonine468.5ACVRL1, TNFRSF1B, BMPR2
18serine467.6DSG1, TNFRSF1B, HSPG2, POLR1C, ACVRL1, BMPR2

GO Terms for genes affiliated with Mixed Connective Tissue Disease

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17Gene Ontology
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Cellular components related to Mixed Connective Tissue Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.8BMPR2, ACVRL1, APOH
2neuronal cell bodyGO:0430258.5BMPR2, ACVRL1, TNFRSF1B

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell migrationGO:0105969.8APOH, ACVRL1
2negative regulation of endothelial cell proliferationGO:0019379.7ACVRL1, APOH
3venous blood vessel developmentGO:0608419.6BMPR2, ACVRL1
4lymphatic endothelial cell differentiationGO:0608369.6ACVRL1, BMPR2
5negative regulation of DNA biosynthetic processGO:20002799.5ACVRL1, BMPR2
6retina vasculature development in camera-type eyeGO:0612989.5BMPR2, ACVRL1
7artery developmentGO:0608409.5BMPR2, ACVRL1
8lymphangiogenesisGO:0019469.5BMPR2, ACVRL1
9activin receptor signaling pathwayGO:0329249.5BMPR2, ACVRL1
10positive regulation of BMP signaling pathwayGO:0305139.4BMPR2, ACVRL1
11positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.3ACVRL1, BMPR2
12blood vessel remodelingGO:0019749.3BMPR2, ACVRL1
13negative regulation of cell growthGO:0303089.3BMPR2, ACVRL1
14BMP signaling pathwayGO:0305099.2BMPR2, ACVRL1
15positive regulation of endothelial cell proliferationGO:0019389.0ACVRL1, BMPR2

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:0050249.3BMPR2, ACVRL1

Products for genes affiliated with Mixed Connective Tissue Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mixed Connective Tissue Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet