MCTD
MCID: MXD005
MIFTS: 62

Mixed Connective Tissue Disease (MCTD) malady

Categories: Rare diseases, Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases

Aliases & Classifications for Mixed Connective Tissue Disease

Aliases & Descriptions for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 50 56 52 42 14 69
Sharp Syndrome 50 56
Mctd 50 56
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

56
mixed connective tissue disease
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:3492
ICD10 33 M35.1
MeSH 42 D008947
NCIt 47 C84892
Orphanet 56 ORPHA809
ICD10 via Orphanet 34 M35.1
MESH via Orphanet 43 D008947
UMLS via Orphanet 70 C0026272
UMLS 69 C0026272

Summaries for Mixed Connective Tissue Disease

NIH Rare Diseases : 50 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 sharp syndrome, is related to hepatitis and calcinosis, and has symptoms including arthralgia, fatigue and myalgia. An important gene associated with Mixed Connective Tissue Disease is RNPC3 (RNA Binding Region (RNP1, RRM) Containing 3), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. The drugs Cilostazol and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Disease Ontology : 12 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 : 71 In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as... more...

Related Diseases for Mixed Connective Tissue Disease

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 346)
id Related Disease Score Top Affiliating Genes
1 hepatitis 30.1 HLA-DRB1 IFNG IL10 IL6 TNF
2 calcinosis 29.5 CD40LG IL6 TNF
3 rheumatoid arthritis 29.4 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
4 connective tissue disease 11.0
5 lupus erythematosus 10.4
6 systemic lupus erythematosus 10.4
7 pulmonary hypertension 10.3
8 pyridoxal 5'-phosphate-dependent epilepsy 10.3 IL10 TNF
9 tubular renal disease-cardiomyopathy syndrome 10.3 IL10 TNF
10 vps11-related autosomal recessive hypomyelinating leukodystrophy 10.3 IL6 TNF
11 lagophthalmos 10.3 IL10 TNF
12 dyslexia 5 10.2 IL6 TNF
13 aortic atherosclerosis 10.2 IL6 TNF
14 bilateral parasagittal parieto-occipital polymicrogyria 10.2 HLA-DRB1 TNF
15 degenerative disc disease 10.2 IL6 TNF
16 mirizzi syndrome 10.2 HLA-DRB1 TNF
17 maturity-onset diabetes of the young 10.2 CD40LG IL10
18 ureter inverted papilloma 10.2 IL10 IL6
19 swine influenza 10.2 HLA-DRB1 IL6 TNF
20 angiomatosis, diffuse corticomeningeal, of divry and van bogaert 10.2 HLA-DRB1 IL6 TNF
21 pulmonary venoocclusive disease 1 10.2 ACVRL1 BMPR2
22 low anorectal malformation 10.2 HLA-DRB1 IL10 TNF
23 peripheral artery disease 10.2 HLA-DRB1 IL10 TNF
24 transient tic disorder 10.2 IL10 IL6 TNF
25 motility-related diarrhea 10.2 HLA-DRB1 IL6 TNF
26 multiple vertebral anomalies unusual facies 10.2 IL10 TNF
27 trichomalacia 10.2 IL10 IL6 TNF
28 phlyctenulosis 10.2 IL10 IL6 TNF
29 gastric dilatation 10.2 IL10 IL6 TNF
30 arthritis 10.2
31 gonococcal endophthalmia 10.2 IL10 IL6 TNF
32 primary ciliary dyskinesia 10.2 IL10 IL6 TNF
33 autosomal recessive type iv ehlers-danlos syndrome 10.2 IL10 IL6 TNF
34 bladder signet ring cell adenocarcinoma 10.2 IL10 IL6 TNF
35 inappropriate adh syndrome 10.2 IL10 IL6 TNF
36 facial nerve neoplasm 10.2 CD40LG SNRNP70
37 central nervous system lymphoma 10.2 IL10 IL6 TNF
38 labyrinthitis 10.2 IL10 IL6 TNF
39 alcoholic hepatitis 10.2 IL10 IL6 TNF
40 chordoid meningioma 10.2 IL10 IL6 TNF
41 choroiditis 10.2 IL10 IL6 TNF
42 infancy electroclinical syndrome 10.2 IL10 IL6 TNF
43 colon adenocarcinoma 10.2 IL10 IL6 TNF
44 asymptomatic neurosyphilis 10.1 IFNG IL10
45 lichen disease 10.1 IL10 IL6 TNF
46 optic nerve hypoplasia 10.1 IL10 IL6 TNF
47 vasculitis 10.1
48 senile cataract 10.1 IL10 IL6 TNF
49 hematocele of tunica vaginalis testis 10.1 ACVRL1 BMPR2 TNF
50 band keratopathy 10.1 IL10 IL6 TNF

Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to Mixed Connective Tissue Disease

Symptoms & Phenotypes for Mixed Connective Tissue Disease

Human phenotypes related to Mixed Connective Tissue Disease:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 dyspnea 56 32 Very frequent (99-80%) HP:0002094
5 fever 56 32 Frequent (79-30%) HP:0001945
6 seizures 56 32 Occasional (29-5%) HP:0001250
7 chest pain 56 32 Very frequent (99-80%) HP:0100749
8 joint swelling 56 32 Frequent (79-30%) HP:0001386
9 joint stiffness 56 32 Occasional (29-5%) HP:0001387
10 arthritis 56 32 Very frequent (99-80%) HP:0001369
11 splenomegaly 56 32 Occasional (29-5%) HP:0001744
12 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
13 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
14 gastroesophageal reflux 56 32 Very frequent (99-80%) HP:0002020
15 nephropathy 56 32 Occasional (29-5%) HP:0000112
16 pulmonary fibrosis 56 32 Very frequent (99-80%) HP:0002206
17 hemolytic anemia 56 32 Occasional (29-5%) HP:0001878
18 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
19 autoimmunity 56 32 Very frequent (99-80%) HP:0002960
20 keratoconjunctivitis sicca 56 32 Frequent (79-30%) HP:0001097
21 psychosis 56 32 Frequent (79-30%) HP:0000709
22 xerostomia 56 32 Frequent (79-30%) HP:0000217
23 purpura 56 32 Occasional (29-5%) HP:0000979
24 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
25 pericarditis 56 32 Occasional (29-5%) HP:0001701
26 myocarditis 56 32 Occasional (29-5%) HP:0012819
27 skin rash 56 32 Very frequent (99-80%) HP:0000988
28 meningitis 56 32 Occasional (29-5%) HP:0001287
29 alopecia 56 32 Occasional (29-5%) HP:0001596
30 prolonged bleeding time 56 32 Occasional (29-5%) HP:0003010
31 osteolysis 56 32 Occasional (29-5%) HP:0002797
32 mediastinal lymphadenopathy 56 32 Occasional (29-5%) HP:0100721
33 myositis 56 32 Frequent (79-30%) HP:0100614
34 leukopenia 56 32 Occasional (29-5%) HP:0001882
35 pleuritis 56 32 Frequent (79-30%) HP:0002102
36 elevated erythrocyte sedimentation rate 56 32 Very frequent (99-80%) HP:0003565
37 scleroderma 56 32 Very frequent (99-80%) HP:0100324
38 gastritis 56 32 Very frequent (99-80%) HP:0005263
39 pulmonary hypertension 56 Occasional (29-5%)
40 lymphadenopathy 56 Occasional (29-5%)
41 interstitial pulmonary disease 56 Occasional (29-5%)
42 pulmonary arterial hypertension 32 HP:0002092
43 interstitial pulmonary abnormality 32 HP:0006530

GenomeRNAi Phenotypes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.78 IL10 BMPR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.78 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 HLA-DRB1 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.78 HLA-DRB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.78 HLA-DRB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.78 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.78 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.78 BMPR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 BMPR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.78 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.78 HLA-DRB1 IL10 BMPR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.78 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 IL10 BMPR2

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 IFNG BMPR2 CD40LG IL10 HSPG2 ACVRL1
2 hematopoietic system MP:0005397 10.06 ADAMTS13 IFNG BMPR2 CD40LG IL10 HSPG2
3 mortality/aging MP:0010768 10.02 ACVRL1 ADAMTS13 IFNG BMPR2 CD40LG IL10
4 embryo MP:0005380 9.98 IFNG BMPR2 IL10 HSPD1 HSPG2 ACVRL1
5 digestive/alimentary MP:0005381 9.93 HSPG2 ACVRL1 IFNG IL10 IL6 TNF
6 muscle MP:0005369 9.86 IFNG BMPR2 IL10 HSPD1 HSPG2 ACVRL1
7 liver/biliary system MP:0005370 9.85 HSPG2 ACVRL1 IFNG IL10 IL6 TNF
8 nervous system MP:0003631 9.81 IFNG BMPR2 CD40LG IL10 HSPD1 HSPG2
9 respiratory system MP:0005388 9.5 IFNG BMPR2 IL10 HSPG2 ACVRL1 IL6
10 skeleton MP:0005390 9.17 HSPG2 BMPR2 IFNG CD40LG IL10 IL6

Drugs & Therapeutics for Mixed Connective Tissue Disease

Drugs for Mixed Connective Tissue Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 278)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved Phase 4 73963-72-1 2754
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3 Vaccines Phase 4,Phase 1
4 Anti-Asthmatic Agents Phase 4
5 Autonomic Agents Phase 4,Phase 2,Phase 1
6 Bronchodilator Agents Phase 4
7 Fibrinolytic Agents Phase 4
8 Neuroprotective Agents Phase 4,Phase 2
9 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Phosphodiesterase 3 Inhibitors Phase 4
11 Phosphodiesterase Inhibitors Phase 4
12 Platelet Aggregation Inhibitors Phase 4
13 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Respiratory System Agents Phase 4,Phase 2,Phase 3
15 Vasodilator Agents Phase 4
16 Anesthetics Phase 4,Phase 1
17 Anesthetics, Local Phase 4
18 Anti-Arrhythmia Agents Phase 4
19 Central Nervous System Depressants Phase 4
20 Diuretics, Potassium Sparing Phase 4
21 Sodium Channel Blockers Phase 4
22
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
23
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
24
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
25
Carboplatin Approved Phase 3,Phase 1,Phase 2 41575-94-4 10339178 498142 38904
26
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
27
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
28
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
29
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
30
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
31
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
32
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 97682-44-5, 100286-90-6 60838
33
Alendronate Approved Phase 2, Phase 3 121268-17-5, 66376-36-1 2088
34
Pamidronate Approved Phase 3 40391-99-9 4674
35
Abatacept Approved Phase 3 332348-12-6 10237
36 Sodium thiosulfate Approved Phase 3,Phase 2
37
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
38
Topotecan Approved, Investigational Phase 3,Phase 1 119413-54-6, 123948-87-8 60700
39
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
40
Succinylcholine Approved Phase 3,Phase 1 306-40-1 5314
41
Morphine Approved, Investigational Phase 3 57-27-2 5288826
42
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
44
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
45
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
46 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
47 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
49 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
50 Isophosphamide mustard Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 193)
id Name Status NCT ID Phase
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4
3 Intra-arterial Lidocaine for Pain Control Post Uterine Fibroid Embolization Completed NCT02293447 Phase 4
4 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
5 Paclitaxel and Carboplatin or Ifosfamide in Treating Patients With Newly Diagnosed Persistent or Recurrent Uterine, Ovarian, Fallopian Tube, or Peritoneal Cavity Cancer Unknown status NCT00954174 Phase 3
6 Alendronate Osteoporosis Study Completed NCT00277251 Phase 2, Phase 3
7 Effects of CHONDRON (Autologous Chondrocytes) With Ankle Cartilage Defect Completed NCT01050816 Phase 3
8 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3
9 Efficacy at 24 Weeks and Safety, Tolerability and Long Term Efficacy of Secukinumab (AIN457) in Patients With Active Rheumatoid Arthritis (RA) and an Inadequate Response to Anti-Tumor Necrosis Factor α (Anti-TNFα) Agents (CAIN457F2309 and CAIN457F2309E1) Completed NCT01350804 Phase 3
10 Carboplatin and Paclitaxel With or Without Bevacizumab in Treating Patients With Stage III or Stage IV Ovarian Epithelial, Primary Peritoneal, or Fallopian Tube Cancer Completed NCT00262847 Phase 3
11 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3
12 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3
13 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3
14 Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD Recruiting NCT01862926 Phase 2, Phase 3
15 Diet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT00719303 Phase 3
16 Bevacizumab and Intravenous or Intraperitoneal Chemotherapy in Treating Patients With Stage II-III Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer Active, not recruiting NCT00951496 Phase 3
17 Paclitaxel and Carboplatin With or Without Bevacizumab in Treating Patients With Stage II, Stage III, or Stage IV Ovarian Epithelial Cancer, Primary Peritoneal Cancer, or Fallopian Tube Cancer Active, not recruiting NCT01167712 Phase 3
18 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
19 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Active, not recruiting NCT00354835 Phase 3
20 A Clinical Trial for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3
21 Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy Withdrawn NCT01492920 Phase 3
22 Trial of Docetaxel and Irinotecan (DI) for Recurrent or Refractory Bone and Soft Tissue Sarcomas. Unknown status NCT01380275 Phase 2
23 Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors Unknown status NCT00179816 Phase 1, Phase 2
24 Chemotherapy Followed by Surgery and Radiation Therapy With or Without Stem Cell Transplant in Treating Patients With Relapsed or Refractory Wilms' Tumor or Clear Cell Sarcoma of the Kidney Unknown status NCT00025103 Phase 2
25 Pazopanib vs. Pazopanib Plus Gemcitabine in Patients With Relapsed or Metastatic Uterine Leiomyosarcomas or Uterine Carcinosarcomas: a Multi-center, Randomized Phase-II Clinical Trial of the NOGGO and AGO - PazoDoble - Unknown status NCT02203760 Phase 2
26 Study of Bevacizumab Followed by Bevacizumab Consolidation for Ovarian Cancer Unknown status NCT00511992 Phase 2
27 Subcutaneous Treatment In Randomized Subjects To Evaluate Safety And Efficacy In Generalized Lupus Erythematosus Completed NCT01405196 Phase 2
28 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2
29 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2
30 Sargramostim and Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Patients With Advanced Ovarian Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer That Did Not Respond to Previous Chemotherapy Completed NCT00466960 Phase 2
31 A6 in Treating Patients With Persistent or Recurrent Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer Completed NCT00939809 Phase 2
32 Belinostat and Carboplatin in Treating Patients With Recurrent or Persistent Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer That Did Not Respond to Carboplatin or Cisplatin Completed NCT00993616 Phase 2
33 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
34 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2
35 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2
36 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2
37 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
38 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2
39 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2
40 Ziv-aflibercept in Treating Patients With Locally Advanced, Unresectable, or Metastatic Gynecologic Soft Tissue Sarcoma Completed NCT00390234 Phase 2
41 Multicenter Trial With PegLiposomal Doxorubicin and Carboplatin Combination Chemotherapy in Gynecological Sarcomas and Mixed Epithelial-Mesenchymal Tumors Completed NCT00815945 Phase 2
42 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2
43 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2
44 Imatinib Mesylate in Treating Patients With Recurrent or Persistent Uterine Cancer Completed NCT00075400 Phase 2
45 A Phase II Trial of Adjuvant Radiation Therapy With Ifosfamide in Patients With MMT of the Uterus Completed NCT00231842 Phase 2
46 Liposomal Vincristine for Pediatric and Adolescent Patients With Relapsed Malignancies Completed NCT00038207 Phase 2
47 Study of High-Dose Chemotherapy With Bone Marrow or Stem Cell Transplant for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
48 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
49 Combination Chemotherapy and Radiation Therapy in Treating Patients With Peripheral Neuroectodermal Tumors, Ewing's Sarcoma, Wilms' Tumor, or Bone Cancer Completed NCT00002466 Phase 2
50 Paclitaxel and Carboplatin in Treating Patients With Persistent or Recurrent Stage III or Stage IV Uterine Cancer Completed NCT00112489 Phase 2

Search NIH Clinical Center for Mixed Connective Tissue Disease

Cochrane evidence based reviews: mixed connective tissue disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

MalaCards organs/tissues related to Mixed Connective Tissue Disease:

39
Skin, Lung, Heart, Kidney, T Cells, Endothelial, Thyroid

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 565)
id Title Authors Year
1
Successful treatment of Type B insulin resistance with mixed connective tissue disease by pulse glucocorticoids and cyclophosphamide. ( 28084020 )
2017
2
Long-term outcome in juvenile-onset mixed connective tissue disease: a nationwide Norwegian study. ( 27283334 )
2016
3
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
4
Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. ( 27311225 )
2016
5
Mixed connective tissue disease-enigma variations? ( 27436003 )
2016
6
Prevalence of mixed connective tissue disease in a population-based registry of American Indian/Alaska Native people in 2007. ( 27788293 )
2016
7
Mixed connective tissue disease with bilateral erythematous palpebral oedema and targetoid skin lesions. ( 27694069 )
2016
8
The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives. ( 27125290 )
2016
9
A case of mixed connective tissue disease. ( 27728674 )
2016
10
Immunity and early atherosclerosis in the course of systemic lupus erythematosus, mixed connective tissue disease and antiphospholipid syndrome. ( 27826173 )
2016
11
Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis. ( 27238624 )
2016
12
Pediatric Mixed Connective Tissue Disease. ( 27032791 )
2016
13
Adhesive arachnoiditis in mixed connective tissue disease: a rare neurological manifestation. ( 27986694 )
2016
14
Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study. ( 26946215 )
2016
15
Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children. ( 27738519 )
2016
16
Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. ( 26677987 )
2016
17
Mixed connective tissue disease. ( 27421219 )
2016
18
Clinical association of mixed connective tissue disease and granulomatosis with polyangiitis: a case report and systematic screening of anti-U1RNP and anti-PR3 auto-antibody double positivity in ten European hospitals. ( 27618831 )
2016
19
Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease. ( 27463267 )
2016
20
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26818120 )
2016
21
Posterior reversible encephalopathy syndrome in a patient with mixed connective tissue disease: a case report. ( 27250498 )
2016
22
Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy. ( 28079540 )
2016
23
Tumoral calcinosis associated with mixed connective tissue disease. ( 25454321 )
2015
24
Mixed Connective Tissue Disease and Papillary Thyroid Cancer: A Case Report. ( 26245523 )
2015
25
Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child. Case report and review of the literature. ( 26554821 )
2015
26
Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease. ( 25672306 )
2015
27
Pulmonary Manifestations of SjAPgren Syndrome, Systemic Lupus Erythematosus, and Mixed Connective Tissue Disease. ( 25836642 )
2015
28
Life-threatening acute pneumonitis in mixed connective tissue disease: a case report and literature review. ( 26142172 )
2015
29
Melkersson-Rosenthal syndrome as an early manifestation of mixed connective tissue disease. ( 26698837 )
2015
30
Mixed Connective Tissue Disease in a Patient With Castleman Disease and Hodgkin Lymphoma: Excellent Clinical Response to Rituximab. ( 26232308 )
2015
31
Development of mixed connective tissue disease and SjAPgren's syndrome in a patient with trisomy X. ( 25854827 )
2015
32
Identifying Differences in Risk Factors for Depression and Anxiety in Pediatric Chronic Disease: A Matched Cross-Sectional Study of Youth with Lupus/Mixed Connective Tissue Disease and Their Peers with Diabetes. ( 26316371 )
2015
33
A Rare Case of Mixed Connective Tissue Disease (MCTD) with Intricate Features of Lupus, Polymyositis and Rheumatoid Arthritis Presenting with Severe Myositis. ( 25954655 )
2015
34
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. ( 26377236 )
2015
35
Cardiac tamponade in a patient with mixed connective tissue disease. ( 25539437 )
2015
36
Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives. ( 26597484 )
2015
37
Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study. ( 26315510 )
2015
38
Pulmonary involvement in long-term mixed connective tissue disease: functional trends and image findings after 10 years. ( 25896472 )
2015
39
Tetramers reveal IL-17-secreting CD4+ T cells that are specific for U1-70 in lupus and mixed connective tissue disease. ( 25713364 )
2015
40
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26549783 )
2015
41
Associations between anti-Ro52 antibodies and lung fibrosis in mixed connective tissue disease. ( 26320136 )
2015
42
Imaging Patterns of Cardiovascular Involvement in Mixed Connective Tissue Disease Evaluated by Cardiovascular Magnetic Resonance. ( 26728774 )
2015
43
IL-10, IL-12B and IL-17 gene polymorphisms in patients with mixed connective tissue disease. ( 25159155 )
2014
44
SjAPgren's syndrome: An underdiagnosed condition in mixed connective tissue disease. ( 24626939 )
2014
45
The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. ( 25187641 )
2014
46
Lifestyle and other related factors for the development of mixed connective tissue disease among Japanese females in comparison with systemic lupus erythematosus. ( 24499377 )
2014
47
Cutaneous manifestations of mixed connective tissue disease: study from a tertiary care hospital in eastern India. ( 24470658 )
2014
48
The diagnosis and classification of mixed connective tissue disease. ( 24461387 )
2014
49
Performance of the 2013 American College of Rheumatology/European League Against Rheumatism Classification Criteria for Systemic Sclerosis (SSc) in Large, Well-defined Cohorts of SSc and Mixed Connective Tissue Disease. ( 25274890 )
2014
50
You're the flight surgeon: mixed connective tissue disease. ( 24754216 )
2014

Variations for Mixed Connective Tissue Disease

Expression for Mixed Connective Tissue Disease

Search GEO for disease gene expression data for Mixed Connective Tissue Disease.

Pathways for Mixed Connective Tissue Disease

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

(show all 43)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 ACVRL1 BMPR2 CD40LG IFNG IL10 IL6
2
Show member pathways
13.31 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
3
Show member pathways
13.26 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
4
Show member pathways
13.2 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
5
Show member pathways
12.83 HSPG2 IFNG IL10 IL6 TNF
6
Show member pathways
12.61 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
7
Show member pathways
12.55 CD40LG HLA-DRB1 IFNG IL10 TNF
8
Show member pathways
12.5 IFNG IL10 IL6 TNF
9
Show member pathways
12.5 HLA-DRB1 IFNG IL10 IL6 TNF
10 12.46 CD40LG IFNG IL10 TNF
11
Show member pathways
12.3 CD40LG IFNG IL10 IL6 TNF
12 12.1 HSPD1 IL10 IL6 TNF
13
Show member pathways
12.07 CD40LG HLA-DRB1 IFNG IL10 TNF
14
Show member pathways
12.06 IFNG IL10 IL6 TNF
15 12.01 BMPR2 IFNG TNF
16 11.94 IFNG IL6 TNF
17 11.91 IL10 IL6 TNF
18 11.91 IFNG IL10 IL6 TNF
19 11.89 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
20
Show member pathways
11.85 IFNG IL10 IL6 TNF
21 11.83 HLA-DRB1 IL6 TNF
22 11.79 IFNG IL10 IL6 TNF
23 11.76 BMPR2 IFNG TNF
24 11.73 IFNG IL10 TNF
25 11.73 HLA-DRB1 IFNG IL6 TNF
26
Show member pathways
11.7 CD40LG IFNG TNF
27 11.69 IL10 IL6 TNF
28 11.64 IFNG IL10 IL6
29 11.64 IFNG IL10 IL6 TNF
30 11.58 CD40LG IL10 IL6 TNF
31 11.54 HSPD1 IL6 TNF
32 11.51 IFNG IL6 TNF
33 11.48 IL10 IL6 TNF
34
Show member pathways
11.47 CD40LG IFNG IL6 TNF
35 11.43 IFNG IL6 TNF
36
Show member pathways
11.36 IFNG IL10 TNF
37 11.3 IL10 IL6 TNF
38 11.24 IFNG IL6 TNF
39 11.15 CD40LG IL10 IL6 TNF
40 11.1 IFNG IL10 IL6 TNF
41 11.04 CD40LG IFNG IL10 IL6 TNF
42 10.96 IL6 TNF
43 10.5 HLA-DRB1 IFNG IL10 IL6 TNF

GO Terms for Mixed Connective Tissue Disease

Cellular components related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 ADAMTS13 BMPR2 CD40LG HSPD1 HSPG2 IFNG
2 external side of plasma membrane GO:0009897 9.55 CD40LG HLA-DRB1 IFNG IL6 TNF
3 cell surface GO:0009986 9.17 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1

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

(show all 48)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.98 HSPD1 IFNG IL6 TNF
2 response to drug GO:0042493 9.97 HSPD1 IFNG IL10 IL6
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.88 CD40LG IL6 TNF
4 platelet activation GO:0030168 9.86 ADAMTS13 CD40LG IL6
5 cellular response to tumor necrosis factor GO:0071356 9.86 ADAMTS13 IL6 SNRNP70
6 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.85 IL10 IL6 TNF
7 response to organic substance GO:0010033 9.82 HSPD1 IL10 TNF
8 immune response GO:0006955 9.8 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
9 positive regulation of endothelial cell proliferation GO:0001938 9.78 ACVRL1 BMPR2 IL10
10 positive regulation of T cell proliferation GO:0042102 9.77 CD40LG IFNG IL6
11 humoral immune response GO:0006959 9.74 IFNG IL6 TNF
12 positive regulation of interleukin-6 production GO:0032755 9.71 HSPD1 IL6 TNF
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 ACVRL1 BMPR2
14 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.7 IL10 TNF
15 positive regulation of nitric oxide biosynthetic process GO:0045429 9.7 IFNG IL6 TNF
16 positive regulation of chemokine production GO:0032722 9.69 IL6 TNF
17 activin receptor signaling pathway GO:0032924 9.69 ACVRL1 BMPR2
18 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 IFNG TNF
19 cellular response to hepatocyte growth factor stimulus GO:0035729 9.68 IL10 IL6
20 positive regulation of macrophage activation GO:0043032 9.67 HSPD1 IL10
21 negative regulation of DNA biosynthetic process GO:2000279 9.66 ACVRL1 BMPR2
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.66 IL10 TNF
23 lymphangiogenesis GO:0001946 9.65 ACVRL1 BMPR2
24 positive regulation of protein import into nucleus, translocation GO:0033160 9.65 IFNG IL6
25 positive regulation of chemokine biosynthetic process GO:0045080 9.64 IFNG TNF
26 negative regulation of lipid storage GO:0010888 9.63 IL6 TNF
27 artery development GO:0060840 9.63 ACVRL1 BMPR2
28 B cell proliferation GO:0042100 9.63 CD40LG HSPD1 IL10
29 retina vasculature development in camera-type eye GO:0061298 9.62 ACVRL1 BMPR2
30 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IFNG IL10
31 lymphatic endothelial cell differentiation GO:0060836 9.59 ACVRL1 BMPR2
32 negative regulation of cytokine secretion involved in immune response GO:0002740 9.58 IL10 TNF
33 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.58 IL6 TNF
34 positive regulation of interleukin-12 production GO:0032735 9.58 CD40LG HSPD1 IFNG
35 regulation of immunoglobulin secretion GO:0051023 9.56 CD40LG TNF
36 venous blood vessel development GO:0060841 9.55 ACVRL1 BMPR2
37 defense response to protozoan GO:0042832 9.54 IFNG IL10 IL6
38 receptor biosynthetic process GO:0032800 9.51 IL10 TNF
39 neutrophil apoptotic process GO:0001781 9.49 IFNG IL6
40 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.48 IFNG TNF
41 response to glucocorticoid GO:0051384 9.46 HSPD1 IL10 IL6 TNF
42 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 IFNG TNF
43 negative regulation of growth of symbiont in host GO:0044130 9.43 IFNG IL10 TNF
44 endothelial cell apoptotic process GO:0072577 9.13 BMPR2 IL10 TNF
45 cellular response to lipopolysaccharide GO:0071222 9.02 ADAMTS13 IFNG IL10 IL6 TNF
46 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.09 ACVRL1 BMPR2 IFNG IL10 IL6 TNF
47 positive regulation of transcription, DNA-templated GO:0045893 10.04 ACVRL1 IFNG IL10 IL6 TNF
48 inflammatory response GO:0006954 10 CD40LG IL10 IL6 TNF

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
2 cytokine activity GO:0005125 9.02 CD40LG IFNG IL10 IL6 TNF
3 BMP receptor activity GO:0098821 8.96 ACVRL1 BMPR2

Sources for Mixed Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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