eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| american trypanosomiasis | ||||
| Disease ID | 637 |
|---|---|
| Disease | american trypanosomiasis |
| Definition | Infection with the protozoan parasite TRYPANOSOMA CRUZI, a form of TRYPANOSOMIASIS endemic in Central and South America. It is named after the Brazilian physician Carlos Chagas, who discovered the parasite. Infection by the parasite (positive serologic result only) is distinguished from the clinical manifestations that develop years later, such as destruction of PARASYMPATHETIC GANGLIA; CHAGAS CARDIOMYOPATHY; and dysfunction of the ESOPHAGUS or COLON. |
| Synonym | chaga disease chaga diseases chagas dis chagas disease chagas disease [disease/finding] chagas diseases chagas' disease chagas-mazza disease cruzi infection trypanosoma disease chagas disease, chagas disease, chagas' infection by trypanosoma cruzi infection by trypanosoma cruzi (disorder) infection caused by trypanosoma cruzi infection caused by trypanosoma cruzi (disorder) south american trypanosomiasis t cruzi t.cruzi trypanosomiasis, american trypanosomiasis, brazilian trypanosomiasis, south american |
| Orphanet | |
| DOID | |
| UMLS | C0041234 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:38) C0018801 | heart failure | 22 C0878544 | cardiomyopathy | 8 C0018799 | heart disease | 4 C0025164 | megaesophagus | 3 C0007193 | dilated cardiomyopathy | 3 C0085615 | right bundle branch block | 2 C0006384 | bundle branch block | 2 C0027059 | myocarditis | 2 C0264716 | chronic heart failure | 2 C0009806 | constipation | 2 C0014848 | achalasia | 2 C0020538 | hypertension | 1 C0018799 | cardiopathy | 1 C0025160 | megacolon | 1 C0017168 | esophageal reflux | 1 C0017665 | membranous nephropathy | 1 C0024301 | follicular lymphoma | 1 C0030499 | parasitic disease | 1 C0024299 | lymphoma | 1 C0030499 | parasitic diseases | 1 C0018801 | cardiac failure | 1 C0398623 | hypercoagulable state | 1 C0041234 | chagas disease | 1 C0023281 | leishmaniasis | 1 C0152025 | polyneuropathy | 1 C0041228 | african sleeping sickness | 1 C0017168 | oesophageal reflux | 1 C0085615 | right bundle-branch block | 1 C0017168 | gastroesophageal reflux disease | 1 C0023283 | cutaneous leishmaniasis | 1 C0018802 | congestive heart failure | 1 C0041228 | sleeping sickness | 1 C0017168 | gastroesophageal reflux | 1 C0017168 | esophageal reflux disease | 1 C0020538 | systemic arterial hypertension | 1 C0018799 | heart diseases | 1 C0017152 | gastritis | 1 C0022658 | nephropathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:176) 2 | A2M | 1.022 | DISEASES 23456 | ABCB10 | 1.04 | DISEASES 100 | ADA | 1.223 | DISEASES 153 | ADRB1 | 1.486 | DISEASES 3267 | AGFG1 | 1.265 | DISEASES 262 | AMD1 | 2.022 | DISEASES 27301 | APEX2 | 1.889 | DISEASES 259266 | ASPM | 1.564 | DISEASES 22809 | ATF5 | 1.06 | DISEASES 9140 | ATG12 | 1.425 | DISEASES 9474 | ATG5 | 1.14 | DISEASES 515 | ATP5F1 | 2.664 | DISEASES 7917 | BAG6 | 1.998 | DISEASES 669 | BPGM | 2.121 | DISEASES 721 | C4B | 1.164 | DISEASES 765 | CA6 | 2.882 | DISEASES 766 | CA7 | 2.854 | DISEASES 801 | CALM1 | 1.248 | DISEASES 811 | CALR | 3.308 | DISEASES 6364 | CCL20 | 1.081 | DISEASES 930 | CD19 | 1.9 | DISEASES 912 | CD1D | 1.862 | DISEASES 958 | CD40 | 1.661 | DISEASES 959 | CD40LG | 3.905 | DISEASES 960 | CD44 | 1.169 | DISEASES 921 | CD5 | 1.626 | DISEASES 942 | CD86 | 2.47 | DISEASES 3080 | CFHR2 | 1.767 | DISEASES 1103 | CHAT | 1.004 | DISEASES 1121 | CHM | 1.507 | DISEASES 1153 | CIRBP | 1.228 | DISEASES 80790 | CMIP | 1.481 | DISEASES 85301 | COL27A1 | 2.442 | DISEASES 1368 | CPM | 1.652 | DISEASES 1508 | CTSB | 2.894 | DISEASES 1520 | CTSS | 2.532 | DISEASES 1523 | CUX1 | 1.498 | DISEASES 4283 | CXCL9 | 1.545 | DISEASES 2833 | CXCR3 | 1.237 | DISEASES 1622 | DBI | 1.289 | DISEASES 7919 | DDX39B | 1.807 | DISEASES 51428 | DDX41 | 2.118 | DISEASES 1606 | DGKA | 1.551 | DISEASES 1719 | DHFR | 2.171 | DISEASES 9732 | DOCK4 | 1.447 | DISEASES 1896 | EDA | 1 | DISEASES 1906 | EDN1 | 2.664 | DISEASES 1995 | ELAVL3 | 1.673 | DISEASES 377841 | ENTPD8 | 3.134 | DISEASES 253152 | EPHX4 | 2.878 | DISEASES 356 | FASLG | 1.729 | DISEASES 85302 | FBF1 | 1.974 | DISEASES 2214 | FCGR3A | 1.203 | DISEASES 2224 | FDPS | 4.343 | DISEASES 2232 | FDXR | 1.038 | DISEASES 2272 | FHIT | 1.116 | DISEASES 51303 | FKBP11 | 1.903 | DISEASES 50943 | FOXP3 | 2.398 | DISEASES 85569 | GALP | 3.548 | DISEASES 23193 | GANAB | 1.214 | DISEASES 2520 | GAST | 1.534 | DISEASES 26301 | GBGT1 | 1.166 | DISEASES 2821 | GPI | 2.646 | DISEASES 55806 | HR | 2.996 | DISEASES 3320 | HSP90AA1 | 1.102 | DISEASES 3586 | IL10 | 4.164 | DISEASES 3605 | IL17A | 2.723 | DISEASES 246778 | IL27 | 1.005 | DISEASES 3559 | IL2RA | 1.142 | DISEASES 3628 | INPP1 | 2.083 | DISEASES 27152 | INTU | 1.683 | DISEASES 253430 | IPMK | 1.55 | DISEASES 3652 | IPP | 1.438 | DISEASES 102723508 | KANTR | 2.079 | DISEASES 80333 | KCNIP4 | 1.375 | DISEASES 3875 | KRT18 | 1.767 | DISEASES 3916 | LAMP1 | 2.448 | DISEASES 89782 | LMLN | 3.937 | DISEASES 4049 | LTA | 1.029 | DISEASES 4125 | MAN2B1 | 1.114 | DISEASES 116511 | MAS1L | 3.275 | DISEASES 10747 | MASP2 | 2.604 | DISEASES 4153 | MBL2 | 1.139 | DISEASES 90550 | MCU | 1.576 | DISEASES 4190 | MDH1 | 2.132 | DISEASES 4191 | MDH2 | 1.279 | DISEASES 4512 | MT-CO1 | 3.582 | DISEASES 4513 | MT-CO2 | 3.87 | DISEASES 4519 | MT-CYB | 5.05 | DISEASES 4538 | MT-ND4 | 2.842 | DISEASES 4540 | MT-ND5 | 1.337 | DISEASES 4586 | MUC5AC | 1.705 | DISEASES 4615 | MYD88 | 1.059 | DISEASES 4624 | MYH6 | 1.049 | DISEASES 4758 | NEU1 | 1.161 | DISEASES 4782 | NFIC | 1.315 | DISEASES 4795 | NFKBIL1 | 1.132 | DISEASES 4803 | NGF | 1.242 | DISEASES 57486 | NLN | 1.38 | DISEASES 58484 | NLRC4 | 1.703 | DISEASES 654364 | NME1-NME2 | 1.135 | DISEASES 4842 | NOS1 | 1.042 | DISEASES 4843 | NOS2 | 1.382 | DISEASES 246734 | NPCDR1 | 1.171 | DISEASES 4878 | NPPA | 2.071 | DISEASES 4879 | NPPB | 2.292 | DISEASES 594857 | NPS | 2.346 | DISEASES 4905 | NSF | 1.353 | DISEASES 50863 | NTM | 3.152 | DISEASES 4914 | NTRK1 | 2.744 | DISEASES 4916 | NTRK3 | 2.619 | DISEASES 4923 | NTSR1 | 1.628 | DISEASES 56903 | PAPOLB | 3.092 | DISEASES 5207 | PFKFB1 | 1.878 | DISEASES 5305 | PIP4K2A | 1.368 | DISEASES 9033 | PKD2L1 | 1.161 | DISEASES 26279 | PLA2G2D | 1.11 | DISEASES 8398 | PLA2G6 | 1.192 | DISEASES 5464 | PPA1 | 1.105 | DISEASES 5554 | PRH1 | 1.584 | DISEASES 5555 | PRH2 | 1.584 | DISEASES 5575 | PRKAR1B | 2.431 | DISEASES 5696 | PSMB8 | 1.254 | DISEASES 5698 | PSMB9 | 1.64 | DISEASES 5788 | PTPRC | 1.061 | DISEASES 10981 | RAB32 | 2.805 | DISEASES 57038 | RARS2 | 1.351 | DISEASES 6130 | RPL7A | 1.75 | DISEASES 57142 | RTN4 | 2.98 | DISEASES 51150 | SDF4 | 1.712 | DISEASES 6401 | SELE | 1.267 | DISEASES 26168 | SENP3 | 1.673 | DISEASES 26054 | SENP6 | 1.606 | DISEASES 5268 | SERPINB5 | 1.571 | DISEASES 5269 | SERPINB6 | 2.041 | DISEASES 8879 | SGPL1 | 1.133 | DISEASES 23410 | SIRT3 | 1.355 | DISEASES 23408 | SIRT5 | 2.143 | DISEASES 51548 | SIRT6 | 1.57 | DISEASES 51547 | SIRT7 | 1.719 | DISEASES 6572 | SLC18A3 | 1.327 | DISEASES 9481 | SLC25A27 | 1.426 | DISEASES 2030 | SLC29A1 | 1.019 | DISEASES 23443 | SLC35A3 | 1.551 | DISEASES 64094 | SMOC2 | 1.583 | DISEASES 9892 | SNAP91 | 1.494 | DISEASES 8835 | SOCS2 | 2.179 | DISEASES 9021 | SOCS3 | 1.051 | DISEASES 6693 | SPN | 2.229 | DISEASES 10250 | SRRM1 | 2.058 | DISEASES 161497 | STRC | 1.445 | DISEASES 8801 | SUCLG2 | 1.443 | DISEASES 6863 | TAC1 | 1.399 | DISEASES 4070 | TACSTD2 | 1.831 | DISEASES 728447 | TEX28P1 | 1.89 | DISEASES 653363 | TEX28P2 | 1.873 | DISEASES 114609 | TIRAP | 2.473 | DISEASES 7099 | TLR4 | 1.779 | DISEASES 55858 | TMEM165 | 1.762 | DISEASES 7124 | TNF | 4.11 | DISEASES 8794 | TNFRSF10C | 3.608 | DISEASES 7179 | TPTE | 2.628 | DISEASES 51592 | TRIM33 | 2.577 | DISEASES 127933 | UHMK1 | 1.599 | DISEASES 10090 | UST | 1.342 | DISEASES 6843 | VAMP1 | 1.381 | DISEASES 51442 | VGLL1 | 2.311 | DISEASES 7432 | VIP | 2.274 | DISEASES 10490 | VTI1B | 1.602 | DISEASES 23038 | WDTC1 | 1.802 | DISEASES 79971 | WLS | 4.319 | DISEASES 84671 | ZNF347 | 1.908 | DISEASES 115560 | ZNF501 | 1.03 | DISEASES 148266 | ZNF569 | 1.002 | DISEASES 284390 | ZNF763 | 1.03 | DISEASES 9406 | ZRANB2 | 2.211 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 637 |
|---|---|
| Disease | american trypanosomiasis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0041234 | chagas disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:16) C0018801 | heart failure | 22 C0878544 | cardiomyopathy | 8 C0038454 | stroke | 4 C0007193 | dilated cardiomyopathy | 3 C0021311 | infections | 3 C0014848 | achalasia | 2 C0264716 | chronic heart failure | 2 C0027059 | myocarditis | 2 C0152025 | polyneuropathy | 1 C0009450 | infection | 1 C0018799 | heart disease | 1 C0025160 | megacolon | 1 C0018801 | cardiac failure | 1 C0025164 | megaesophagus | 1 C0018799 | cardiopathy | 1 C0018802 | congestive heart failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs2043055 | 25743241 | 3606 | IL18 | umls:C0041234 | BeFree | We analyzed the rs2043055 marker in the IL18 gene in a cohort of Chagas disease cardiomyopathy patients (n=849) and asymptomatic subjects (n=202). | 0.000271442 | 2015 | IL18 | 11 | 112160901 | A | G |
| rs386502799 | 19456234 | 7097 | TLR2 | umls:C0041234 | BeFree | T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a decrease in signal transduction upon ligation of TLR2 or TLR4 to their respective ligand may have a lower risk of developing CCC. | 0.000814326 | 2009 | NA | NA | NA | NA | NA |
| rs386502799 | 19456234 | 114609 | TIRAP | umls:C0041234 | BeFree | T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a decrease in signal transduction upon ligation of TLR2 or TLR4 to their respective ligand may have a lower risk of developing CCC. | 0.000271442 | 2009 | NA | NA | NA | NA | NA |
| rs8177374 | 19456234 | 7097 | TLR2 | umls:C0041234 | BeFree | T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a decrease in signal transduction upon ligation of TLR2 or TLR4 to their respective ligand may have a lower risk of developing CCC. | 0.000814326 | 2009 | TIRAP | 11 | 126292948 | C | T |
| rs8177374 | 19456234 | 114609 | TIRAP | umls:C0041234 | BeFree | T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a decrease in signal transduction upon ligation of TLR2 or TLR4 to their respective ligand may have a lower risk of developing CCC. | 0.000271442 | 2009 | TIRAP | 11 | 126292948 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001907 | Thromboembolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| 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:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002383 | Encephalitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011355 | Localized skin lesion | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002571 | Achalasia | MP:0011882 | enlarged duodenum | increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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 | 637 |
|---|---|
| Disease | american trypanosomiasis |
| Case | (Waiting for update.) |