MCTD
MCID: MXD005
MIFTS: 64

Mixed Connective Tissue Disease (MCTD) malady

Rare diseases, Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases categories
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Summaries for Mixed Connective Tissue Disease

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NIH Rare Diseases:42 Mixed connective tissue disease (mctd) is an autoimmune disorder that causes a combination of symptoms 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 based summary: Mixed Connective Tissue Disease, also known as connective tissue disease overlap syndrome, is related to connective tissue disease and purpura, and has symptoms including abnormal scarring/cheloids/hypertrophic scars, cutaneous rash and nausea/vomiting/regurgitation/merycism/hyperemesis. 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: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:65 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, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mixed Connective Tissue Disease, Aliases & Descriptions:

Name: Mixed Connective Tissue Disease 8 42 10 44 48 62
Connective Tissue Disease Overlap Syndrome 8 62
Sharp Syndrome 48 62
 
Mctd 42 48
Mixed Collagen Vascular Disease 8


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


External Ids:

Disease Ontology8 DOID:3492
MeSH34 D008947
NCIt39 C84892
MESH via Orphanet35 D008947
ICD10 via Orphanet26 M35.1
UMLS via Orphanet63 C0026272

Related Diseases for Mixed Connective Tissue Disease

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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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Symptoms:

48 (show all 44)
  • abnormal scarring/cheloids/hypertrophic scars
  • cutaneous rash
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • lung fibrosis
  • thoracic/chest pain
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • myalgia/muscular pain
  • arthritis/synovitis/synovial proliferation
  • autoimmunity/autoimmune reaction/autoantibodies
  • asthenia/fatigue/weakness
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • xerophthalmia/dry eyes
  • mouth dryness/xerostomia
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • psychic/behavioural troubles
  • myositis
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • fever/chilling
  • purpura/petichiae
  • alopecia
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • mediastinal/hilar adenopathies
  • pulmonary hypertension
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • lymphadenopathy/polyadenopathies
  • 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

HPO human phenotypes related to Mixed Connective Tissue Disease:

(show all 39)
id Description Frequency HPO Source Accession
1 atypical scarring of skin hallmark (90%) HP:0000987
2 skin rash hallmark (90%) HP:0000988
3 acrocyanosis hallmark (90%) HP:0001063
4 arthritis hallmark (90%) HP:0001369
5 nausea and vomiting hallmark (90%) HP:0002017
6 respiratory insufficiency hallmark (90%) HP:0002093
7 pulmonary fibrosis hallmark (90%) HP:0002206
8 autoimmunity hallmark (90%) HP:0002960
9 myalgia hallmark (90%) HP:0003326
10 abnormality of the gastric mucosa hallmark (90%) HP:0004295
11 chest pain hallmark (90%) HP:0100749
12 xerostomia typical (50%) HP:0000217
13 behavioral abnormality typical (50%) HP:0000708
14 keratoconjunctivitis sicca typical (50%) HP:0001097
15 joint swelling typical (50%) HP:0001386
16 abnormality of the pleura typical (50%) HP:0002103
17 arthralgia typical (50%) HP:0002829
18 abnormality of temperature regulation typical (50%) HP:0004370
19 myositis typical (50%) HP:0100614
20 nephropathy occasional (7.5%) HP:0000112
21 seizures occasional (7.5%) HP:0001250
22 meningitis occasional (7.5%) HP:0001287
23 limitation of joint mobility occasional (7.5%) HP:0001376
24 alopecia occasional (7.5%) HP:0001596
25 abnormality of the myocardium occasional (7.5%) HP:0001637
26 abnormality of the pericardium occasional (7.5%) HP:0001697
27 splenomegaly occasional (7.5%) HP:0001744
28 hemolytic anemia occasional (7.5%) HP:0001878
29 leukopenia occasional (7.5%) HP:0001882
30 abnormality of coagulation occasional (7.5%) HP:0001928
31 subcutaneous hemorrhage occasional (7.5%) HP:0001933
32 pulmonary hypertension occasional (7.5%) HP:0002092
33 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
34 hepatomegaly occasional (7.5%) HP:0002240
35 osteolysis occasional (7.5%) HP:0002797
36 peripheral neuropathy occasional (7.5%) HP:0009830
37 aseptic necrosis occasional (7.5%) HP:0010885
38 abnormal tendon morphology occasional (7.5%) HP:0100261
39 mediastinal lymphadenopathy occasional (7.5%) HP:0100721

Drugs & Therapeutics for Mixed Connective Tissue Disease

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Drug clinical trials:

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Search NIH Clinical Center 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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MalaCards organs/tissues related to Mixed Connective Tissue Disease:

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

Animal Models for Mixed Connective Tissue Disease or affiliated genes

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MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4TNFRSF1B, HSPG2, ACVRL1, BMPR2
2MP:00053698.3BMPR2, ACVRL1, HSPG2, TNFRSF1B
3MP:00053858.3ACVRL1, HSPG2, TNFRSF1B, BMPR2
4MP:00053767.7TNFRSF1B, HSPG2, APOH, ACVRL1, BMPR2
5MP:00107687.5ACVRL1, APOH, HSPG2, TNFRSF1B, BMPR2

Publications for Mixed Connective Tissue Disease

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Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 519)
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
A case of subacute cutaneous lupus erythematosus in a patient with mixed connective tissue disease: successful treatment with plasmapheresis and rituximab. (23984162)
2013
5
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
6
Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment. (22424193)
2012
7
Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration. (20890626)
2011
8
Spontaneous esophageal perforation in a patient with mixed connective tissue disease. (22279514)
2011
9
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
10
Efficacy of bosentan in the treatment of a patient with mixed connective tissue disease complicated by pulmonary arterial hypertension. (19653056)
2010
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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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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Compounds for genes affiliated with Mixed Connective Tissue Disease

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Mixed Connective Tissue Disease according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1rituximab44 50 1111.8APOH, DSG1
2quinacrine44 1110.8HSPG2, APOH
3pge1449.7HSPG2, APOH
4etanercept44 50 1111.7TNFRSF1B, APOH
5infliximab44 50 1111.7TNFRSF1B, APOH
6thromboxane a244 2410.7HSPG2, APOH
7homocysteine44 2410.6TNFRSF1B, APOH
8p002449.5TNFRSF1B, APOH
9ivig449.3TNFRSF1B, APOH, DSG1
10cycloheximide449.1TNFRSF1B, HSPG2, POLR1C
11vegf448.9ACVRL1, APOH, HSPG2, TNFRSF1B
12magnesium44 24 1110.8BMPR2, ACVRL1, POLR1C
13zinc44 249.8TNFRSF1B, POLR1C, APOH
14arginine448.7BMPR2, APOH, TNFRSF1B
15Adenosine triphosphate24 119.7BMPR2, ACVRL1, POLR1C
16nitric oxide44 24 1110.5TNFRSF1B, BMPR2, APOH
17threonine448.5ACVRL1, TNFRSF1B, BMPR2
18serine447.6DSG1, TNFRSF1B, HSPG2, POLR1C, ACVRL1, BMPR2

GO Terms for genes affiliated with Mixed Connective Tissue Disease

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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
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Sources for Mixed 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