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)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
9 (33.4%)	17106166	Mixed connective tissue disease associated with MPO-ANCA-positive polyangiitis. Kitaura K, Miyagawa T, Asano K, Oouchi S, Miki T, Fujisawa T, Ishida K. Intern Med. 2006;45(20):1177-82. [ Show abstract ] [ Hide abstract ]
		Proteinuria Anemia
		MPO

		Adult Antineutrophil Cytoplasmic Antibodies Combined Modality Therapy Fatal Outcome Females Glomerulonephritis Hemodiafiltration Hemoptysis Homo sapiens Immunosuppressive Agents Kidney Glomerulus Mixed Connective Tissue Disease Plasmapheresis Respiratory Insufficiency Sjogren's Syndrome Syndrome Vasculitis
9 (33.4%)	16391894	A case of mixed connective tissue disease complicated with thrombotic thrombocytopenic purpura. Kuroda T, Matsuyama K, Nakatsue T, Murakami S, Hasegawa H, Nakayama H, Sakatsume M, Ueno M, Nakano M, Gejyo F. Clin Rheumatol. 2007;26(1):101-4. [ Show abstract ] [ Hide abstract ]
		Thrombocytopenia Microangiopathic hemolytic anemia Fever
		ADAMTS13

		ADAM Proteins ADAMTS13 Protein Fatal Outcome Females Homo sapiens Mixed Connective Tissue Disease Plasma Exchange Purpura, Thrombotic Thrombocytopenic
9 (33.4%)	12111089	Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease. Kato A, Suzuki Y, Fujigaki Y, Yamamoto T, Yonemura K, Miyajima H, Hishida A. Rheumatol Int. 2002;22(3):122-5. [ Show abstract ] [ Hide abstract ]
		Edema Hemolytic anemia


		Brain Comatose Fatal Outcome Homo sapiens Lung Diseases, Interstitial Magnetic Resonance Imaging Male Middle Aged Mixed Connective Tissue Disease Pulse Therapy, Drug Purpura, Thrombotic Thrombocytopenic
9 (33.4%)	3172120	Thrombocytopenia and hemolytic anemia in a patient with mixed connective tissue disease due to thrombotic thrombocytopenic purpura. ter Borg EJ, Houtman PM, Kallenberg CG, van Leeuwen MA, van Ryswyk MH. J Rheumatol. 1988;15(7):1174-7. [ Show abstract ] [ Hide abstract ]
		Thrombocytopenia Microangiopathic hemolytic anemia Fever


		Adult Anemia, Hemolytic Females Homo sapiens Mixed Connective Tissue Disease Purpura, Thrombotic Thrombocytopenic Thrombocytopenia
15 (32.2%)	11511800 (3054765)	A case of cholestatic autoimmune hepatitis and acute liver failure: an unusual hepatic manifestation of mixed connective tissue disease and Sjogren's syndrome. Min JK, Han NI, Kim JA, Lee YS, Cho CS, Kim HY. J Korean Med Sci. 2001;16(4):512-5. [ Show abstract ] [ Hide abstract ]
		Jaundice Hepatomegaly


		Adult Autoimmune Chronic Hepatitis Cholestasis Females Homo sapiens Liver Failure, Acute Mixed Connective Tissue Disease Sjogren's Syndrome
16 (32.0%)	23370948	Purpura fulminans in a patient with mixed connective tissue disease. Murad AA, Jeffers M, Tobin AM, Connolly M. BMJ Case Rep. 2013;2013:. [ Show abstract ] [ Hide abstract ]
		Hypothyroidism Purpura
		SERPINC1

		Adult Anticoagulants Differential Diagnosis Face Females Fingers Homo sapiens Mixed Connective Tissue Disease Purpura Fulminans Sepsis Skin Toes
16 (32.0%)	22391860	ANCA-associated vasculitis with dual ANCA positivity in coexistence with mixed connective tissue disease. Murakami M, Shimane K, Takahashi H, Tomiyama J, Nagashima M. Mod Rheumatol. 2013;23(1):156-61. [ Show abstract ] [ Hide abstract ]
		Purpura
		MPO PRTN3

		Adult Anti-Neutrophil Cytoplasmic Antibody-Associated Va... Antineutrophil Cytoplasmic Antibodies Combination Drug Therapy Females Genetic Predisposition to Disease Glucocorticoids HLA-DR Serological Subtypes Homo sapiens Immunosuppressive Agents Mixed Connective Tissue Disease Myeloblastin Pulse Therapy, Drug
18 (31.6%)	10536483	[Portal and pulmonary hypertension in a patient with MCTD]. Sekiguchi Y, Amano K, Takano Y, Saito K, Itoh I, Tsuzaka K, Abe T, Takeuchi T. Ryumachi. 1999;39(4):657-63. [ Show abstract ] [ Hide abstract ]
		Hypertension Periportal fibrosis Portal vein thrombosis


		Adult Females Homo sapiens Mixed Connective Tissue Disease Portal Hypertension Pulmonary Hypertension
19 (31.5%)	10920688	[A case of mixed connective tissue disease with lupus-like manifestations of the central nervous system, successfully treated with cyclophosphamide combined with prednisolone]. Kuroki M, Okayama A, Kuwata G, Okamoto M, Tanaka G, Iga M, Kai Y, Matsuyama M, Murai K, Tsubouchi H. Ryumachi. 2000;40(3):627-32. [ Show abstract ] [ Hide abstract ]
		Muscle weakness Fever Lymphadenopathy Erythema
		IL6

		Adult Combination Drug Therapy Females Homo sapiens Immunosuppressive Agents Lupus Erythematosus, Systemic Mixed Connective Tissue Disease Pulse Therapy, Drug
20 (31.4%)	8048428	Sclerodermatous renal crisis in a patient with mixed connective tissue disease. Satoh K, Imai H, Yasuda T, Wakui H, Miura AB, Nakamoto Y. Am J Kidney Dis. 1994;24(2):215-8. [ Show abstract ] [ Hide abstract ]
		Renal insufficiency Hypertension Microangiopathic hemolytic anemia
		SNORA73A

		Females Homo sapiens Middle Aged Mixed Connective Tissue Disease Systemic Scleroderma

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