eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mixed connective tissue disease | ||||
| Disease ID | 932 |
|---|---|
| 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 | |
| DOID | |
| UMLS | C0026272 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:56) C0020538 | hypertension | 3 C0085278 | antiphospholipid syndrome | 3 C0034150 | purpura | 2 C0206062 | interstitial lung disease | 2 C0409974 | lupus erythematosus | 2 C0006663 | calcinosis | 2 C0042373 | vascular diseases | 2 C0024115 | lung disease | 2 C0042373 | vascular disease | 2 C0034155 | thrombotic thrombocytopenic purpura | 2 C0042384 | vasculitis | 2 C0007222 | cardiovascular disease | 2 C0007222 | cardiovascular diseases | 2 C0011644 | scleroderma | 2 C1619734 | pulmonary arterial hypertension | 2 C0011570 | depression | 1 C0019158 | hepatitis | 1 C0027873 | neuromyelitis optica | 1 C0041696 | major depression | 1 C0003864 | inflammatory arthritis | 1 C0235618 | proliferative glomerulonephritis | 1 C0020541 | portal hypertension | 1 C0007131 | non-small cell lung cancer | 1 C0039103 | synovitis | 1 C0007115 | thyroid cancer | 1 C0027121 | myositis | 1 C0027059 | myocarditis | 1 C0085650 | purpura fulminans | 1 C0034069 | lung fibrosis | 1 C0687720 | central diabetes insipidus | 1 C0020676 | hypothyroidism | 1 C0020542 | pulmonary hypertension | 1 C0242379 | lung cancer | 1 C0036202 | sarcoidosis | 1 C0314719 | dry eye | 1 C0024141 | systemic lupus erythematosus | 1 C0149925 | small cell lung cancer | 1 C0037116 | silicosis | 1 C0162855 | mucinosis | 1 C0004153 | atherosclerosis | 1 C0018799 | cardiac disease | 1 C0007115 | thyroid ca | 1 C0085652 | pyoderma gangrenosum | 1 C0024137 | cutaneous lupus erythematosus | 1 C0033680 | protein-losing enteropathy | 1 C0010068 | coronary artery disease | 1 C0027809 | schwannoma | 1 C0007177 | cardiac tamponade | 1 C0034735 | raynaud's phenomenon | 1 C0036421 | progressive scleroderma | 1 C0241910 | autoimmune hepatitis | 1 C0042109 | urticarial | 1 C0017658 | glomerulonephritis | 1 C0085655 | polymyositis | 1 C1145670 | respiratory failure | 1 C0008445 | chondrodysplasia punctata | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 94 | ACVRL1 | 2.341 | DISEASES 11093 | ADAMTS13 | 1.722 | DISEASES 120 | ADD3 | 1.674 | DISEASES 79747 | ADGB | 3.263 | DISEASES 340351 | AGBL3 | 1.92 | DISEASES 567 | B2M | 1.143 | DISEASES 659 | BMPR2 | 1.704 | DISEASES 765 | CA6 | 1.094 | DISEASES 93589 | CACNA2D4 | 2.363 | DISEASES 339965 | CCDC158 | 3.196 | DISEASES 959 | CD40LG | 4.055 | DISEASES 1041 | CDSN | 2.1 | DISEASES 1059 | CENPB | 3.221 | DISEASES 80781 | COL18A1 | 1.188 | DISEASES 51428 | DDX41 | 2.133 | DISEASES 7913 | DEK | 1.118 | DISEASES 1781 | DYNC1I2 | 1.399 | DISEASES 6993 | DYNLT1 | 1.297 | DISEASES 5394 | EXOSC10 | 4.063 | DISEASES 355 | FAS | 1.05 | DISEASES 2200 | FBN1 | 2.365 | DISEASES 2254 | FGF9 | 1.33 | DISEASES 2962 | GTF2F1 | 3.153 | DISEASES 2963 | GTF2F2 | 3.059 | DISEASES 3035 | HARS | 2.808 | DISEASES 8337 | HIST2H2AA3 | 2.09 | DISEASES 8338 | HIST2H2AC | 2.09 | DISEASES 8349 | HIST2H2BE | 2.24 | DISEASES 3105 | HLA-A | 1.977 | DISEASES 3117 | HLA-DQA1 | 1.244 | DISEASES 3123 | HLA-DRB1 | 1.832 | DISEASES 3151 | HMGN2 | 3.275 | DISEASES 3178 | HNRNPA1 | 2.509 | DISEASES 3181 | HNRNPA2B1 | 2.948 | DISEASES 220988 | HNRNPA3 | 2.286 | DISEASES 3326 | HSP90AB1 | 1.324 | DISEASES 3329 | HSPD1 | 1.68 | DISEASES 3339 | HSPG2 | 4.313 | DISEASES 3586 | IL10 | 1.244 | DISEASES 11133 | KPTN | 2.7 | DISEASES 3895 | KTN1 | 2.187 | DISEASES 3903 | LAIR1 | 2.056 | DISEASES 4582 | MUC1 | 1.348 | DISEASES 4948 | OCA2 | 1.025 | DISEASES 11168 | PSIP1 | 1.287 | DISEASES 5725 | PTBP1 | 2.179 | DISEASES 58155 | PTBP2 | 1.739 | DISEASES 6035 | RNASE1 | 1.708 | DISEASES 6165 | RPL35A | 2.111 | DISEASES 6168 | RPL37A | 2.541 | DISEASES 6129 | RPL7 | 3.199 | DISEASES 6130 | RPL7A | 2.497 | DISEASES 6280 | S100A9 | 1.488 | DISEASES 1757 | SARDH | 2.031 | DISEASES 5265 | SERPINA1 | 1.615 | DISEASES 1992 | SERPINB1 | 1.158 | DISEASES 9356 | SLC22A6 | 1.581 | DISEASES 6625 | SNRNP70 | 6.777 | DISEASES 6628 | SNRPB | 1.069 | DISEASES 7056 | THBD | 1.755 | DISEASES 7124 | TNF | 2.212 | DISEASES 7133 | TNFRSF1B | 1.736 | DISEASES 8718 | TNFRSF25 | 2.623 | DISEASES 7150 | TOP1 | 2.896 | DISEASES 6738 | TROVE2 | 3.096 | DISEASES 83942 | TSSK1B | 2.12 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 932 |
|---|---|
| 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 | 1 C0027059 | myocarditis | 1 C0206062 | interstitial lung disease | 1 C0007177 | cardiac tamponade | 1 C0036202 | sarcoidosis | 1 C1619734 | pulmonary arterial hypertension | 1 C0017658 | glomerulonephritis | 1 C0042143 | uterine rupture | 1 C0042373 | vascular disease | 1 C0020676 | hypothyroidism | 1 C0042384 | vasculitis | 1 C0856169 | endothelial dysfunction | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
Mapped by homologous gene(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001097 | Keratoconjunctivitis sicca | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0100614 | Myositis | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002102 | Pleuritis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0100324 | Scleroderma | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000979 | Purpura | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000217 | Xerostomia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005263 | Gastritis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 932 |
|---|---|
| Disease | mixed connective tissue disease |
| Case | (Waiting for update.) |