PedAM

Pediatric Disease Annotations & Medicines


	mixed connective tissue disease

Disease ID	435
Disease	mixed connective tissue disease
Definition	A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.
Synonym	collagen disease mixed vascular connective disease mixed tissue connective mixed tissue disease connective tissue dis mixed connective tissue disease mixed connective tissue disease overlap syndrome connective tissue disease overlap syndrome (disorder) connective tissue disease, mixed mctd mctd - mixed connective tissue disease mctd syndrome mix connective tissue disease mixed collagen vascular disease mixed collagen vascular disease (disorder) mixed collagen vascular disease, nos mixed connective tissue dis mixed connective tissue disease [disease/finding] mixed connective tissue disease, nos sharp syndrome sharp's syndrome syndrome, sharp
Orphanet	ORPHANET:809
DOID	DOID:3492
UMLS	C0026272
MeSH	D008947
SNOMED-CT	SNOMEDCT_US_2016_09_01:398049005;SNOMEDCT_US_2016_09_01:398021003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:63) C0020538 \| hypertension \| 3 C0085278 \| antiphospholipid syndrome \| 3 C0007222 \| cardiovascular diseases \| 2 C0242379 \| lung cancer \| 2 C0206062 \| interstitial lung disease \| 2 C0042384 \| vasculitis \| 2 C0006663 \| calcinosis \| 2 C0007222 \| cardiovascular disease \| 2 C0042373 \| vascular diseases \| 2 C0409974 \| lupus erythematosus \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0024115 \| lung disease \| 2 C0241910 \| autoimmune hepatitis \| 2 C0034150 \| purpura \| 2 C0034155 \| thrombotic thrombocytopenic purpura \| 2 C0011644 \| scleroderma \| 2 C0017658 \| glomerulonephritis \| 2 C0019158 \| hepatitis \| 2 C0042373 \| vascular disease \| 2 C0037116 \| silicosis \| 1 C0018799 \| cardiac disease \| 1 C0027121 \| myositis \| 1 C0007177 \| cardiac tamponade \| 1 C0017665 \| membranous nephropathy \| 1 C0027873 \| neuromyelitis optica \| 1 C0085655 \| polymyositis \| 1 C0039103 \| synovitis \| 1 C0024137 \| cutaneous lupus erythematosus \| 1 C0027059 \| myocarditis \| 1 C0162855 \| mucinosis \| 1 C0003864 \| inflammatory arthritis \| 1 C0042109 \| urticarial \| 1 C0020541 \| portal hypertension \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0010068 \| coronary artery disease \| 1 C0149925 \| small cell lung cancer \| 1 C0036202 \| sarcoidosis \| 1 C0008445 \| chondrodysplasia punctata \| 1 C0314719 \| dry eye \| 1 C0020542 \| pulmonary hypertension \| 1 C0687720 \| central diabetes insipidus \| 1 C0027809 \| schwannoma \| 1 C0041696 \| major depression \| 1 C0242379 \| lung cancers \| 1 C0007115 \| thyroid ca \| 1 C0007115 \| thyroid cancer \| 1 C0022658 \| nephropathy \| 1 C1145670 \| respiratory failure \| 1 C0011570 \| depression \| 1 C0004153 \| atherosclerosis \| 1 C0014544 \| epilepsy \| 1 C0036421 \| progressive scleroderma \| 1 C0034735 \| raynaud's phenomenon \| 1 C0007131 \| non-small cell lung cancer \| 1 C0085650 \| purpura fulminans \| 1 C0011847 \| diabetes \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0033680 \| protein-losing enteropathy \| 1 C0020676 \| hypothyroidism \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0022658 \| renal disease \| 1 C0034069 \| lung fibrosis \| 1 C0011849 \| diabetes mellitus \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:126) 350 \| APOH \| DISEASES 6634 \| SNRPD3 \| DISEASES 49 \| ACR \| DISEASES 1457 \| CSNK2A1 \| DISEASES 10423 \| CDIPT \| DISEASES 8797 \| TNFRSF10A \| DISEASES 3191 \| HNRNPL \| DISEASES 973 \| CD79A \| DISEASES 5444 \| PON1 \| DISEASES 727 \| C5 \| DISEASES 4353 \| MPO \| DISEASES 3558 \| IL2 \| DISEASES 3312 \| HSPA8 \| DISEASES 4598 \| MVK \| DISEASES 3458 \| IFNG \| DISEASES 3820 \| KLRB1 \| DISEASES 3111 \| HLA-DOA \| DISEASES 23438 \| HARS2 \| DISEASES 566 \| AZU1 \| DISEASES 5657 \| PRTN3 \| DISEASES 6402 \| SELL \| DISEASES 8161 \| COIL \| DISEASES 5552 \| SRGN \| DISEASES 6626 \| SNRPA \| DISEASES 6431 \| SRSF6 \| DISEASES 6631 \| SNRPC \| DISEASES 718 \| C3 \| DISEASES 1773 \| DNASE1 \| DISEASES 140683 \| BPIFA2 \| DISEASES 8572 \| PDLIM4 \| DISEASES 47 \| ACLY \| DISEASES 6737 \| TRIM21 \| DISEASES 23225 \| NUP210 \| DISEASES 1401 \| CRP \| DISEASES 1830 \| DSG3 \| DISEASES 1828 \| DSG1 \| DISEASES 3569 \| IL6 \| DISEASES 27348 \| TOR1B \| DISEASES 6741 \| SSB \| DISEASES 4001 \| LMNB1 \| DISEASES 7450 \| VWF \| DISEASES 23495 \| TNFRSF13B \| DISEASES 671 \| BPI \| DISEASES 3552 \| IL1A \| DISEASES 10994 \| ILVBL \| DISEASES 2208 \| FCER2 \| DISEASES 5286 \| PIK3C2A \| DISEASES 8795 \| TNFRSF10B \| DISEASES 3439 \| IFNA1 \| DISEASES 5903 \| RANBP2 \| DISEASES 1636 \| ACE \| DISEASES 5739 \| PTGIR \| DISEASES 84666 \| RETNLB \| DISEASES 5473 \| PPBP \| DISEASES 27242 \| TNFRSF21 \| DISEASES 79841 \| AGBL2 \| DISEASES 4314 \| MMP3 \| DISEASES 6632 \| SNRPD1 \| DISEASES 23636 \| NUP62 \| DISEASES 3184 \| HNRNPD \| DISEASES 2200 \| FBN1 \| DISEASES 3326 \| HSP90AB1 \| DISEASES 8338 \| HIST2H2AC \| DISEASES 11133 \| KPTN \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 6129 \| RPL7 \| DISEASES 3329 \| HSPD1 \| DISEASES 2963 \| GTF2F2 \| DISEASES 3178 \| HNRNPA1 \| DISEASES 6035 \| RNASE1 \| DISEASES 4948 \| OCA2 \| DISEASES 3181 \| HNRNPA2B1 \| DISEASES 80781 \| COL18A1 \| DISEASES 355 \| FAS \| DISEASES 5265 \| SERPINA1 \| DISEASES 120 \| ADD3 \| DISEASES 5725 \| PTBP1 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 7150 \| TOP1 \| DISEASES 3151 \| HMGN2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 6738 \| TROVE2 \| DISEASES 4582 \| MUC1 \| DISEASES 6280 \| S100A9 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 8337 \| HIST2H2AA3 \| DISEASES 959 \| CD40LG \| DISEASES 1757 \| SARDH \| DISEASES 11093 \| ADAMTS13 \| DISEASES 6130 \| RPL7A \| DISEASES 659 \| BMPR2 \| DISEASES 3339 \| HSPG2 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 1041 \| CDSN \| DISEASES 3105 \| HLA-A \| DISEASES 5394 \| EXOSC10 \| DISEASES 7056 \| THBD \| DISEASES 765 \| CA6 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 9356 \| SLC22A6 \| DISEASES 1059 \| CENPB \| DISEASES 11168 \| PSIP1 \| DISEASES 1992 \| SERPINB1 \| DISEASES 2254 \| FGF9 \| DISEASES 93589 \| CACNA2D4 \| DISEASES 339965 \| CCDC158 \| DISEASES 94 \| ACVRL1 \| DISEASES 83942 \| TSSK1B \| DISEASES 3903 \| LAIR1 \| DISEASES 220988 \| HNRNPA3 \| DISEASES 2962 \| GTF2F1 \| DISEASES 3895 \| KTN1 \| DISEASES 1781 \| DYNC1I2 \| DISEASES 7913 \| DEK \| DISEASES 79747 \| ADGB \| DISEASES 340351 \| AGBL3 \| DISEASES 6165 \| RPL35A \| DISEASES 7124 \| TNF \| DISEASES 3586 \| IL10 \| DISEASES 6628 \| SNRPB \| DISEASES 58155 \| PTBP2 \| DISEASES 6168 \| RPL37A \| DISEASES 51428 \| DDX41 \| DISEASES 3035 \| HARS \| DISEASES 567 \| B2M \| DISEASES 6625 \| SNRNP70 \| DISEASES
Locus	(Waiting for update.)

Disease ID	435
Disease	mixed connective tissue disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:41) HP:0002102 \| Pleuritis HP:0002239 \| Gastrointestinal hemorrhage HP:0002829 \| Arthralgia HP:0001882 \| Leukopenia HP:0010885 \| Aseptic necrosis HP:0000979 \| Purpura HP:0000988 \| Skin rash HP:0002092 \| Pulmonary arterial hypertension HP:0002797 \| Osteolysis HP:0009830 \| Peripheral neuropathy HP:0002716 \| Lymphadenopathy HP:0002960 \| Autoimmunity HP:0001878 \| Hemolytic anemia HP:0001945 \| Fever HP:0003326 \| Myalgia HP:0001596 \| Alopecia HP:0006530 \| Interstitial pulmonary disease HP:0100324 \| Scleroderma HP:0003010 \| Prolonged bleeding time HP:0001386 \| Joint swelling HP:0002206 \| Pulmonary fibrosis HP:0001744 \| Splenomegaly HP:0005263 \| Gastritis HP:0001250 \| Seizures HP:0100614 \| Myositis HP:0002094 \| Dyspnea HP:0002240 \| Hepatomegaly HP:0100749 \| Chest pain HP:0000217 \| Xerostomia HP:0000709 \| Psychosis HP:0012378 \| Fatigue HP:0001369 \| Arthritis HP:0001701 \| Pericarditis HP:0100721 \| Mediastinal lymphadenopathy HP:0012819 \| Myocarditis HP:0001097 \| Keratoconjunctivitis sicca HP:0000112 \| Nephropathy HP:0001287 \| Meningitis HP:0001387 \| Joint stiffness HP:0002020 \| Gastroesophageal reflux HP:0003565 \| Elevated erythrocyte sedimentation rate
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:38) HP:0000822 \| Hypertension \| 3 HP:0012115 \| Liver inflammation \| 2 HP:0003761 \| Calcinosis \| 2 HP:0002633 \| Vasculitis \| 2 HP:0000979 \| Purpura \| 2 HP:0000099 \| Glomerular nephritis \| 2 HP:0100324 \| Progressive systemic scleroderma \| 2 HP:0100769 \| Synovitis \| 1 HP:0100718 \| Uterine rupture \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0002243 \| Protein-losing enteropathy \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000716 \| Depression \| 1 HP:0000394 \| Lop ear \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0005203 \| Spontaneous esophageal rupture \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0011838 \| Sclerodactyly \| 1 HP:0006530 \| Interstitial lung disease \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0000863 \| Neurohypophyseal diabetes insipidus \| 1 HP:0030880 \| Raynaud phenomenon \| 1 HP:0004937 \| Pulmonary artery aneurysm \| 1 HP:0012819 \| Myocarditis \| 1 HP:0100550 \| Rupture of tendons \| 1 HP:0002093 \| progressive respiratory failure \| 1

Disease ID	435
Disease	mixed connective tissue disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:93) C2697310 \| sarcoidosis C2678504 \| osteoporosis C2315246 \| acute pandysautonomia C2215935 \| complete heart block C2186532 \| liver disease C2108099 \| second degree atrioventricular block C1963274 \| vasculitis C1963220 \| pulmonary hypertension C1962971 \| myocarditis C1660219 \| analgesia C1619734 \| pulmonary arterial hypertension C1546533 \| abscess C1533618 \| fat embolism C1442837 \| myocardial necrosis C1393529 \| vascular complications C1253937 \| pericardial effusion C1112565 \| pneumatosis intestinalis C0856169 \| endothelial dysfunction C0752303 \| urological manifestations C0752303 \| urological manifestation C0751357 \| focal myositis C0748159 \| pulmonary involvement C0744421 \| immune-complex glomerulonephritis C0524702 \| pulmonary thromboembolism C0432474 \| klinefelter's syndrome C0398367 \| kikuchi-fujimoto disease C0376293 \| stigmata C0343524 \| disseminated nocardiosis C0302809 \| fulminant hepatitis C0267557 \| secretory diarrhea C0264936 \| secondary pulmonary hypertension C0263678 \| acute arthritis C0243050 \| cardiovascular abnormalities C0241910 \| autoimmune hepatitis C0241423 \| tongue atrophy C0221238 \| mesangial proliferative glomerulonephritis C0221014 \| secondary amyloidosis C0206062 \| interstitial lung disease C0206061 \| interstitial pneumonia C0205969 \| malignant thymoma C0152171 \| primary pulmonary hypertension C0152026 \| retinal vasculitis C0151281 \| genital ulcerations C0086981 \| sicca syndrome C0085655 \| polymyositis C0042376 \| vascular headaches C0042373 \| vascular disease C0042143 \| uterine rupture C0040962 \| tricuspid valve prolapse C0040128 \| thyroid disorder C0040053 \| thrombosis C0040034 \| thrombopenia C0040034 \| thrombocytopenia C0036421 \| systemic sclerosis C0034902 \| pure red cell aplasia C0034735 \| raynaud's phenomenon C0034155 \| thrombotic thrombocytopenic purpura C0032266 \| pneumatosis cystoides intestinalis C0030326 \| panniculitis C0030167 \| pachymeningitis C0029132 \| optic neuropathy C0028242 \| nocardiosis C0027726 \| nephrotic syndrome C0027697 \| nephritis C0027121 \| inflammatory myopathy C0026976 \| transverse myelitis C0025290 \| aseptic meningitis C0025289 \| meningitis C0024312 \| lymphocytopenia C0023223 \| leg ulcer C0022660 \| acute renal failure C0022658 \| renal diseases C0022658 \| nephropathy C0022408 \| arthropathy C0022116 \| ischemia C0020676 \| hypothyroidism C0020540 \| accelerated hypertension C0019288 \| femoral hernia C0019080 \| hemorrhage C0018784 \| sensorineural hearing loss C0017665 \| membranous nephropathy C0017658 \| glomerulonephritis C0017181 \| gastrointestinal hemorrhage C0015645 \| fasciitis C0014858 \| esophageal motility disorders C0014852 \| esophageal dysfunction C0010051 \| coronary artery aneurysm C0007786 \| brain ischemia C0007177 \| cardiac tamponade C0003864 \| arthritis C0003811 \| rhythm disorder C0002949 \| dissecting aneurysm C0002878 \| hemolytic anemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0034155 \| thrombotic thrombocytopenic purpura \| 2 C0241910 \| autoimmune hepatitis \| 2 C0007177 \| cardiac tamponade \| 1 C0856169 \| endothelial dysfunction \| 1 C0042143 \| uterine rupture \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0027059 \| myocarditis \| 1 C0036202 \| sarcoidosis \| 1 C0020676 \| hypothyroidism \| 1 C0042384 \| vasculitis \| 1 C0042373 \| vascular disease \| 1 C0206062 \| interstitial lung disease \| 1 C0017658 \| glomerulonephritis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026272	sulindac	D013467	38194-50-2	mixed connective tissue disease	MESH:D008947	therapeutic	8256166

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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