MCID: MXD005
MIFTS: 56

Mixed Connective Tissue Disease malady

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

Aliases & Classifications for Mixed Connective Tissue Disease

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Mixed Connective Tissue Disease, Aliases & Descriptions:

Name: Mixed Connective Tissue Disease 9 41 11 43 47 60
Mctd 41 47
Connective Tissue Disease Overlap Syndrome 9
 
Mixed Collagen Vascular Disease 9
Sharp Syndrome 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
mixed connective tissue disease:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Japan); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:3492
NCIt38 C84892
MeSH33 D008947
Orphanet47 809
MESH via Orphanet34 D008947
ICD10 via Orphanet26 M35.1
UMLS via Orphanet61 C0026272

Summaries for Mixed Connective Tissue Disease

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NIH Rare Diseases:41 Mixed connective tissue disease (mctd) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. some affected people may also have symptoms of rheumatoid arthritis. although mctd can affect people of all ages, it appears to be most common in women under age 30. signs and symptoms vary but may include raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. the cause of mctd is currently unknown. there is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (nsaids), corticosteroids and immunosuppresive drugs may help manage the symptoms. last updated: 12/29/2014

MalaCards based summary: Mixed Connective Tissue Disease, also known as mctd, is related to connective tissue disease and purpura, and has symptoms including atypical scarring of skin, skin rash and acrocyanosis. An important gene associated with Mixed Connective Tissue Disease is ACVRL1 (activin A receptor type II-like 1), and among its related pathways are TGF-beta Signaling Pathway and Id Signaling Pathway. The compounds rituximab and quinacrine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and heart, 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:63 In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as... more...

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:

 47 (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:

Search ClinicalTrials for Mixed Connective Tissue Disease

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:

31
Lung, Skin, Heart, Kidney, Bone, T cells, Liver, Endothelial, Thyroid, Eye, B cells, Testes, Monocytes, Brain, Skeletal muscle, Colon, 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:

35
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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Articles related to Mixed Connective Tissue Disease:

(show top 50)    (show all 524)
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
Leg ulcer in mixed connective tissue disease. Resolution during sitaxsentan therapy]. (19156432)
2009
12
Diagnostic workup for mixed connective tissue disease in childhood. (18847172)
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 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
15
Semiquantitative assessment of the intestinal motility in chronic intestinal pseudo-obstruction in systemic sclerosis and mixed connective tissue disease by Sitzmarks capsule. (17039319)
2006
16
Clinical and immunoserological characteristics of mixed connective tissue disease associated with pulmonary arterial hypertension. (16784493)
2006
17
Rheumatoid factor isotypes in mixed connective tissue disease. (16391886)
2006
18
Serum levels of anti-agalactosyl IgG antibodies in mixed connective tissue disease. (15840122)
2005
19
Serum levels of manganese superoxide dismutase in patients with mixed connective tissue disease. (16095129)
2005
20
Pregnancy in mixed connective tissue disease. (16084321)
2005
21
The prognosis of mixed connective tissue disease. (16084324)
2005
22
Cardiac tamponade due to massive pericardial effusion in mixed connective tissue disease: reversal with steroid therapy. (15470773)
2004
23
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
24
Pregnancy outcome in nephrotic syndrome with mixed connective tissue disease. (11598404)
2001
25
Renal crisis due to intimal hyperplasia in a patient with mixed connective tissue disease (MCTD) accompanied by pulmonary hypertension. (11813854)
2001
26
Mixed connective tissue disease. (10990174)
2000
27
A case of Graves' disease associated with autoimmune hepatitis and mixed connective tissue disease. (10426583)
1999
28
Mixed connective tissue disease: a disease entity? (10374418)
1998
29
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
30
Anti-RNP antibody in a child with undifferentiated carcinoma and no evidence of mixed connective tissue disease. (9133950)
1997
31
Anti-endothelial cell antibodies in the sera of patients with mixed connective tissue disease--the clinical significance. (9431781)
1997
32
Pravastatin-induced rhabdomyolysis in a patient with mixed connective tissue disease. (8670341)
1996
33
Autoimmune response to the spliceosome. An immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. (7779120)
1995
34
Increased serum angiotensin I-converting enzyme activity in patients with mixed connective tissue disease and pulmonary hypertension. (7863277)
1995
35
Does mixed connective tissue disease exist in India? (7633796)
1995
36
Brain hemorrhage in mixed connective tissue disease. A case report. (7978512)
1994
37
Hypertrophic cranial pachymeningitis associated with mixed connective tissue disease; a comparison with idiopathic and infectious pachymeningitis. (8241599)
1993
38
Orofacial manifestations of mixed connective tissue disease. (2334610)
1990
39
Resorptive arthropathy and rib erosions in mixed connective tissue disease. (2359089)
1990
40
Muscle ultrastructure in a case of mixed connective tissue disease and SjAPgren's syndrome. (2520352)
1989
41
Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis. (2789110)
1989
42
Pure red cell aplasia in mixed connective tissue disease. (2509697)
1989
43
An adult case of mixed connective tissue disease associated with perimyocarditis and massive pericardial effusion. (3723788)
1986
44
Late onset mixed connective tissue disease. (3723514)
1986
45
Disseminated nocardiosis in a patient with mixed connective tissue disease. (4095403)
1985
46
Secretory diarrhea in mixed connective tissue disease. (3969997)
1985
47
Detection of antinuclear ribonucleoprotein (nRNP) antibody producing cells in peripheral blood lymphocytes from patients with mixed connective tissue disease. (3910834)
1985
48
Mitral and tricuspid valve prolapse in a patient with mixed connective tissue disease. (6857311)
1983
49
Cardiovascular manifestations of mixed connective tissue disease in adults. (6640871)
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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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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Compounds for genes affiliated with Mixed Connective Tissue Disease

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1rituximab43 49 1211.8APOH, DSG1
2quinacrine43 1210.8HSPG2, APOH
3pge1439.7HSPG2, APOH
4etanercept43 49 1211.7TNFRSF1B, APOH
5infliximab43 49 1211.7TNFRSF1B, APOH
6thromboxane a243 2410.7HSPG2, APOH
7homocysteine43 2410.6TNFRSF1B, APOH
8p002439.5TNFRSF1B, APOH
9ivig439.3TNFRSF1B, APOH, DSG1
10cycloheximide439.1TNFRSF1B, HSPG2, POLR1C
11vegf438.9ACVRL1, APOH, HSPG2, TNFRSF1B
12magnesium43 24 1210.8BMPR2, ACVRL1, POLR1C
13zinc43 249.8TNFRSF1B, POLR1C, APOH
14arginine438.7BMPR2, APOH, TNFRSF1B
15Adenosine triphosphate24 129.7BMPR2, ACVRL1, POLR1C
16nitric oxide43 24 1210.5TNFRSF1B, BMPR2, APOH
17threonine438.5ACVRL1, TNFRSF1B, BMPR2
18serine437.6DSG1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099868.8BMPR2, ACVRL1, APOH
2neuronal cell bodyGO:00430258.5BMPR2, ACVRL1, TNFRSF1B

Biological processes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell migrationGO:00105969.8APOH, ACVRL1
2negative regulation of endothelial cell proliferationGO:00019379.7ACVRL1, APOH
3venous blood vessel developmentGO:00608419.6BMPR2, ACVRL1
4lymphatic endothelial cell differentiationGO:00608369.6BMPR2, ACVRL1
5negative regulation of DNA biosynthetic processGO:020002799.5BMPR2, ACVRL1
6retina vasculature development in camera-type eyeGO:00612989.5ACVRL1, BMPR2
7artery developmentGO:00608409.5ACVRL1, BMPR2
8lymphangiogenesisGO:00019469.5BMPR2, ACVRL1
9activin receptor signaling pathwayGO:00329249.5ACVRL1, BMPR2
10positive regulation of BMP signaling pathwayGO:00305139.4BMPR2, ACVRL1
11positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMPR2, ACVRL1
12blood vessel remodelingGO:00019749.3ACVRL1, BMPR2
13negative regulation of cell growthGO:00303089.3BMPR2, ACVRL1
14BMP signaling pathwayGO:00305099.2BMPR2, ACVRL1
15positive regulation of endothelial cell proliferationGO:00019389.0BMPR2, ACVRL1

Molecular functions related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00050249.3BMPR2, ACVRL1

Products for genes affiliated with Mixed Connective Tissue Disease

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet