Mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).



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Narrow down the case reports



Total: 393 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(48.9%)
3414079
[Mixed connective tissue disease (Sharp's syndrome)--a case report].
Gatsev Z, Vulev S.
Vutr Boles. 1988;27(1):114-7.
Arthritis Hepatosplenomegaly Anemia
Differential Diagnosis Females Homo sapiens Middle Aged Mixed Connective Tissue Disease
2
(46.2%)
28700492
(5515764)
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report.
Kelkar AH, Shah AA, Yong SL, Ahmed Z.
Medicine (Baltimore). 2017;96(28):e7488.
Splenomegaly Pancytopenia Fever Hepatitis
Adult Differential Diagnosis Females Homo sapiens Lymphohistiocytosis, Hemophagocytic Mixed Connective Tissue Disease
3
(42.8%)
7732496
[A case of mixed connective tissue disease associated with gastric cancer and cancer of the uterine cervix].
Katayama M, Tanaka I, Hosako Y, Hama N, Yamada T, Inada S, Goto M.
Ryumachi. 1995;35(1):85-9.
Leukopenia Fever Lymphadenopathy Erythema
SSB TRIM21
Adenocarcinoma Adult Females Homo sapiens Mixed Connective Tissue Disease Neoplasms, Multiple Primary Stomach Neoplasms Uterine Cervical Neoplasm
4
(39.1%)
19718594
[Severe corticoid-refractory autoimmune thrombocytopenia associated with mixed connective tissue disease (Sharp's syndrome). Treatment with rituximab].
Rudolph SE, Kouba M, Hrdlicka P.
Dtsch Med Wochenschr. 2009;134(36):1734-8.
Splenomegaly Thrombocytopenia
Antibodies, Monoclonal, Murine-Derived B-Lymphocytes Females Glucocorticoids Homo sapiens Immunologic Factors Mixed Connective Tissue Disease Monoclonal Antibodies Refusal of Treatment Splenectomy
5
(38.2%)
1411796
[A case of Sweet's syndrome (acute febrile neutrophilic dermatosis) associated with mixed connective tissue disease].
Makino Y, Ueda S, Ogawa M, Hori J, Ohto M, Wakashin M, Tanabe E.
Ryumachi. 1992;32(4):340-5; discussion 345-6.
Fever Leukocytosis Erythema
PIK3C2A
Homo sapiens Male Middle Aged Mixed Connective Tissue Disease Sweet Syndrome
6
(37.6%)
583290
[Scleroderma with traces of disseminated lupus erythematosus associated with Hashimoto's thyroiditis and papillary carcinoma of the thyroid gland (author's transl)].
Sanchez de Rivera JM, Barbado Hernandez FJ, Vazquez Rodriguez JJ, Gil Aguado A, Garcia Puig J, Viguer Garcia-Moreno JM.
Med Clin (Barc). 1979;73(8):342-6.
Hypertension Leukopenia Anemia Fever
Carcinoma, Papillary Differential Diagnosis Females Homo sapiens Lupus Erythematosus, Systemic Middle Aged Systemic Scleroderma Thyroid Neoplasm
7
(37.3%)
20847509
Idiopathic portal hypertension in a patient with mixed connective tissue disease and protein C deficiency.
Horai Y, Miyamura T, Hirata A, Nakamura M, Takahama S, Ando H, Minami R, Yamamoto M, Suematsu E.
Intern Med. 2010;49(18):2013-6.
Portal hypertension Thrombocytopenia Hypersplenism
Adult Females Homo sapiens Liver Cirrhosis Mixed Connective Tissue Disease Pancytopenia Portal Hypertension Protein C Deficiency Splenomegaly
8
(33.8%)
7974030
[Hemophagocytic syndrome observed in a patient with systemic lupus erythematosus].
Hayashi S, Nawata Y, Takabayashi K, Iwamoto I, Yoshida S.
Ryumachi. 1994;34(4):779-85.
Skin rash Pancytopenia Fever
Disseminated Intravascular Coagulation Females Fever Histiocytosis, Non-Langerhans-Cell Homo sapiens Lupus Erythematosus, Systemic Middle Aged
9
(33.4%)
22579274
(4293699)
Differentiating scleroderma renal crisis from other causes of thrombotic microangiopathy in a postpartum patient.
Abudiab M, Krause ML, Fidler ME, Nath KA, Norby SM.
Clin Nephrol. 2013;80(4):293-7.
Thrombocytopenia Hemolytic anemia Fever
ACE
Adult Biopsy Differential Diagnosis Females Homo sapiens Plasma Exchange Postpartum Period Purpura, Thrombotic Thrombocytopenic Renal Dialysis Systemic Scleroderma
9
(33.4%)
21915182
(3170900)
Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease: a case report.
Souto Filho JT, de Barros PV, da Silva AM, Barbosa FA, Ribas GF.
Case Rep Med. 2011;2011:953890.
Thrombocytopenia Hemolytic anemia Fever
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000988 Skin rash Very frequent (99-80%)
HP:0001369 Arthritis Very frequent (99-80%)
HP:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002206 Pulmonary fibrosis Very frequent (99-80%)
HP:0002960 Autoimmunity Very frequent (99-80%)
HP:0003326 Myalgia Very frequent (99-80%)
HP:0003565 Elevated erythrocyte sedimentation rate Very frequent (99-80%)
HP:0005263 Gastritis Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0100324 Scleroderma Very frequent (99-80%)
HP:0100749 Chest pain Very frequent (99-80%)
HP:0000217 Xerostomia Frequent (79-30%)
HP:0000709 Psychosis Frequent (79-30%)
HP:0001097 Keratoconjunctivitis sicca Frequent (79-30%)
HP:0001386 Joint swelling Frequent (79-30%)
HP:0001945 Fever Frequent (79-30%)
HP:0002102 Pleuritis Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0100614 Myositis Frequent (79-30%)
HP:0000112 Nephropathy Occasional (29-5%)
HP:0000979 Purpura Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001287 Meningitis Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001596 Alopecia Occasional (29-5%)
HP:0001701 Pericarditis Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0001878 Hemolytic anemia Occasional (29-5%)
HP:0001882 Leukopenia Occasional (29-5%)
HP:0002092 Pulmonary arterial hypertension Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0002716 Lymphadenopathy Occasional (29-5%)
HP:0002797 Osteolysis Occasional (29-5%)
HP:0003010 Prolonged bleeding time Occasional (29-5%)
HP:0006530 Interstitial pulmonary abnormality Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0010885 Avascular necrosis Occasional (29-5%)
HP:0012819 Myocarditis Occasional (29-5%)
HP:0100721 Mediastinal lymphadenopathy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 137

HPO ID Term # of case reports
HP:0000822 Hypertension 28
HP:0001370 Rheumatoid arthritis 22
HP:0000099 Glomerulonephritis 9
HP:0002090 Pneumonia 9
HP:0001369 Arthritis 8
HP:0001873 Thrombocytopenia 6
HP:0100614 Myositis 6
HP:0001701 Pericarditis 5
HP:0100646 Thyroiditis 5
HP:0000100 Nephrotic syndrome 4
HP:0000819 Diabetes mellitus 4
HP:0000821 Hypothyroidism 4
HP:0001287 Meningitis 4
HP:0002206 Pulmonary fibrosis 4
HP:0012486 Myelitis 4
HP:0012819 Myocarditis 4
HP:0000083 Renal insufficiency 3
HP:0001698 Pericardial effusion 3
HP:0001945 Fever 3
HP:0002196 Myelopathy 3
HP:0007618 Subcutaneous calcification 3
HP:0012115 Hepatitis 3
HP:0030731 Carcinoma 3
HP:0030880 Raynaud phenomenon 3
HP:0000855 Insulin resistance 2
HP:0000939 Osteoporosis 2
HP:0001138 Optic neuropathy 2
HP:0001297 Stroke 2
HP:0001298 Encephalopathy 2
HP:0001324 Muscle weakness 2
HP:0001409 Portal hypertension 2
HP:0001618 Dysphonia 2
HP:0001658 Myocardial infarction 2
HP:0001937 Microangiopathic hemolytic anemia 2
HP:0002024 Malabsorption 2
HP:0002094 Dyspnea 2
HP:0002113 Pulmonary infiltrates 2
HP:0002243 Protein-losing enteropathy 2
HP:0002381 Aphasia 2
HP:0002716 Lymphadenopathy 2
HP:0005521 Disseminated intravascular coagulation 2
HP:0011838 Sclerodactyly 2
HP:0012490 Panniculitis 2
HP:0012735 Cough 2
HP:0025421 Pneumomediastinum 2
HP:0100008 Schwannoma 2
HP:0100584 Endocarditis 2
HP:0100598 Pulmonary edema 2
HP:0100806 Sepsis 2
HP:0200042 Skin ulcer 2
HP:0200120 Chronic active hepatitis 2
HP:0000112 Nephropathy 1
HP:0000123 Nephritis 1
HP:0000133 Gonadal dysgenesis 1
HP:0000709 Psychosis 1
HP:0000763 Sensory neuropathy 1
HP:0000969 Edema 1
HP:0000979 Purpura 1
HP:0001258 Spastic paraplegia 1
HP:0001399 Hepatic failure 1
HP:0001482 Subcutaneous nodule 1
HP:0001513 Obesity 1
HP:0001541 Ascites 1
HP:0001635 Congestive heart failure 1
HP:0001638 Cardiomyopathy 1
HP:0001663 Ventricular fibrillation 1
HP:0001664 Torsade de pointes 1
HP:0001700 Myocardial necrosis 1
HP:0001733 Pancreatitis 1
HP:0001876 Pancytopenia 1
HP:0001878 Hemolytic anemia 1
HP:0001882 Leukopenia 1
HP:0001903 Anemia 1
HP:0001907 Thromboembolism 1
HP:0001919 Acute kidney injury 1
HP:0001942 Metabolic acidosis 1
HP:0001953 Diabetic ketoacidosis 1
HP:0001971 Hypersplenism 1
HP:0002014 Diarrhea 1
HP:0002018 Nausea 1
HP:0002040 Esophageal varix 1
HP:0002041 Intractable diarrhea 1
HP:0002045 Hypothermia 1
HP:0002098 Respiratory distress 1
HP:0002100 Recurrent aspiration pneumonia 1
HP:0002102 Pleuritis 1
HP:0002105 Hemoptysis 1
HP:0002107 Pneumothorax 1
HP:0002202 Pleural effusion 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002240 Hepatomegaly 1
HP:0002248 Hematemesis 1
HP:0002315 Headache 1
HP:0002480 Hepatic encephalopathy 1
HP:0002586 Peritonitis 1
HP:0002617 Dilatation 1
HP:0002878 Respiratory failure 1
HP:0002955 Granulomatosis 1
HP:0002960 Autoimmunity 1
HP:0003072 Hypercalcemia 1
HP:0003073 Hypoalbuminemia 1
HP:0003198 Myopathy 1
HP:0003270 Abdominal distention 1
HP:0003761 Calcinosis 1
HP:0004389 Intestinal pseudo-obstruction 1
HP:0004942 Aortic aneurysm 1
HP:0005550 Chronic lymphatic leukemia 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0006946 Recurrent meningitis 1
HP:0007209 Facial paralysis 1
HP:0009071 Inflammatory myopathy 1
HP:0009830 Peripheral neuropathy 1
HP:0011703 Sinus tachycardia 1
HP:0012089 Arteritis 1
HP:0012234 Agranulocytosis 1
HP:0012473 Tongue atrophy 1
HP:0012578 Membranous nephropathy 1
HP:0012636 Retinal vein occlusion 1
HP:0025343 Lupus anticoagulant 1
HP:0025615 Abscess 1
HP:0025637 Vasospasm 1
HP:0030350 Erythematous papule 1
HP:0030430 Neuroma 1
HP:0030773 Internuclear ophthalmoplegia 1
HP:0031179 Nuchal rigidity 1
HP:0031678 Atherosclerotic lesion 1
HP:0032252 Granuloma 1
HP:0040049 Macular edema 1
HP:0100532 Scleritis 1
HP:0100537 Fasciitis 1
HP:0100658 Cellulitis 1
HP:0100718 Uterine rupture 1
HP:0100749 Chest pain 1
HP:0100762 Hemobilia 1
HP:0100790 Hernia 1
HP:0200034 Papule 1
HP:0200119 Acute hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID