PedAM
Pediatric Disease Annotations & Medicines
| amyloidosis | ||||
| Disease ID | 18 |
|---|---|
| Disease | amyloidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:104) C2697391 | rheumatoid arthritis C2678504 | osteoporosis C2363906 | splenic calcification C2203646 | jaundice C2039684 | systemic symptoms C2013823 | orbital hemorrhage C1963220 | pulmonary hypertension C1963154 | renal failure C1963091 | diarrhea C1963079 | restrictive cardiomyopathy C1962972 | proteinuria C1955743 | mineralocorticoid deficiency C1565489 | renal insufficiency C1414497 | factor x deficiency C1393529 | vascular complications C1258215 | ileus C1168271 | pericardial hematoma C1145670 | respiratory failure C0936248 | chondroma C0878544 | myocardiopathy C0752252 | neuromuscular manifestations C0748164 | multiple pulmonary nodules C0699791 | gastric carcinoma C0678202 | regional enteritis C0520743 | mediastinal lymphadenopathy C0520679 | obstructive sleep apnea C0497156 | lymphadenopathy C0442874 | neuropathy C0442838 | bilateral hilar adenopathy C0422833 | ent symptoms C0409974 | lupus erythematosus C0393911 | autonomic failure C0376185 | hyporeninemic hypoaldosteronism C0346255 | renal oncocytoma C0341697 | renal impairment C0334044 | dyscrasia C0272404 | hyposplenism C0271750 | adrenal calcification C0271682 | sensorimotor polyneuropathy C0267842 | acute acalculous cholecystitis C0267373 | intestinal hemorrhage C0267373 | intestinal bleeding C0259749 | autonomic neuropathy C0238457 | renal vein thrombosis C0238239 | light chain deposition disease C0231656 | shoulder-pad sign C0221239 | rapidly progressive glomerulonephritis C0221165 | diplegia C0151467 | acute adrenal insufficiency C0149893 | secondary glaucoma C0086981 | sicca syndrome C0041948 | uraemia C0039483 | giant cell arteritis C0037998 | splenic infarction C0037315 | sleep apnea C0037284 | skin lesions C0036690 | septicaemia C0035078 | kidney failure C0034150 | purpura C0033860 | psoriasis C0031154 | peritonitis C0030489 | paraproteinemias C0030421 | paraganglioma C0029166 | oral manifestation C0027726 | nephrotic syndrome C0027719 | nephrosclerosis C0026848 | myopathy C0026764 | myeloma C0026764 | multiple myeloma C0024523 | malabsorption syndrome C0024419 | macroglobulinemia C0023895 | liver disorder C0023788 | whipple's disease C0022661 | end-stage renal failure C0022661 | end-stage renal disease C0022661 | chronic renal failure C0022658 | nephropathy C0022354 | obstructive jaundice C0022116 | ischemia C0021847 | intestinal pseudo-obstruction C0021845 | intestinal perforations C0021071 | alpha chain disease C0020649 | hypotension C0020639 | hypoproteinemia C0020619 | hypogonadism C0020541 | portal hypertension C0019829 | hodgkin's disease C0019209 | hepatomegaly C0019080 | hemorrhage C0018801 | heart insufficiency C0018801 | heart failure C0018801 | cardiac failure C0017178 | gastrointestinal diseases C0014863 | esophageal spasms C0010495 | cutis laxa C0010403 | cryoglobulinemia C0010346 | crohn's disease C0009377 | colonic pseudo-obstruction C0008372 | intrahepatic cholestasis C0007286 | carpal tunnel syndrome C0005779 | coagulopathy C0005779 | coagulopathies C0004943 | behcet's disease C0002871 | anaemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:40) C0026764 | multiple myeloma | 28 C0019080 | hemorrhage | 22 C0035078 | renal failure | 21 C0026764 | myeloma | 20 C0027726 | nephrotic syndrome | 15 C0018801 | heart failure | 14 C0003873 | rheumatoid arthritis | 14 C0442874 | neuropathy | 6 C0033687 | proteinuria | 6 C0015519 | factor x deficiency | 5 C0010346 | crohn's disease | 5 C0007196 | restrictive cardiomyopathy | 4 C0341697 | renal impairment | 3 C0004943 | behcet's disease | 3 C1565489 | renal insufficiency | 3 C0035078 | kidney failure | 2 C0334044 | dyscrasia | 2 C0011991 | diarrhea | 2 C0022661 | chronic renal failure | 2 C0022661 | end-stage renal disease | 2 C0267373 | intestinal bleeding | 2 C0007286 | carpal tunnel syndrome | 1 C0020649 | hypotension | 1 C0026848 | myopathy | 1 C0259749 | autonomic neuropathy | 1 C0037284 | skin lesions | 1 C0023788 | whipple's disease | 1 C0022346 | jaundice | 1 C0020541 | portal hypertension | 1 C0238239 | light chain deposition disease | 1 C0041948 | uraemia | 1 C0005779 | coagulopathies | 1 C0022354 | obstructive jaundice | 1 C0018801 | cardiac failure | 1 C0019209 | hepatomegaly | 1 C2363906 | splenic calcification | 1 C0034150 | purpura | 1 C0022658 | nephropathy | 1 C0033860 | psoriasis | 1 C0010495 | cutis laxa | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104895094 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243403 | T | C,A |
| rs104895097 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243205 | C | T |
| rs11541794 | 24131106 | 7276 | TTR | umls:C0002726 | BeFree | For familial TTR amyloidosis cardiac involvement is frequent and mortality high for T60A, V122I and V30M genotypes. | 0.206845043 | 2014 | TTR | 18 | 31593004 | A | G |
| rs11550199 | 1311922 | 2934 | GSN | umls:C0002726 | BeFree | The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin. | 0.011139048 | 1992 | GSN | 9 | 121312363 | A | G |
| rs11550199 | 10744159 | 2934 | GSN | umls:C0002726 | BeFree | Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. | 0.011139048 | 2000 | GSN | 9 | 121312363 | A | G |
| rs11550199 | 1652889 | 2934 | GSN | umls:C0002726 | BeFree | The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. | 0.011139048 | 1991 | GSN | 9 | 121312363 | A | G |
| rs237025 | 16735488 | 387082 | SUMO4 | umls:C0002726 | BeFree | SUMO4 M55V variant was associated not only with type 1 diabetes [odds ratio (OR), 1.42; 95% confidence interval (CI), 1.09-1.84; P = 0.0072], but also with increased risk of other autoimmune diseases, AITD (OR, 1.52; 95% CI, 1.14-2.03; P = 0.0041) and RA without amyloidosis (OR, 1.53; 95% CI, 1.65-2.24; P = 0.027), but not primary Sjögren's syndrome. | 0.000271442 | 2006 | TAB2;SUMO4 | 6 | 149400554 | G | A |
| rs28940578 | 24593212 | 4210 | MEFV | umls:C0002726 | BeFree | Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I. | 0.064186018 | 2014 | MEFV | 16 | 3243405 | C | T |
| rs28940578 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243405 | C | T |
| rs28940579 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243310 | A | T,G |
| rs28940580 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243447 | C | T,G |
| rs371792178 | 23231421 | 1806 | DPYD | umls:C0002726 | BeFree | Herein we report the first description of the (99mTc-DPD scintigraphy profile in a patient with suspected amyloidotic cardiomyopathy and a final EMB- and genetically-proven diagnosis of familial apolipoprotein AI amyloidosis due to Leu174Ser variant. | 0.001085767 | 2013 | DPYD | 1 | 97699507 | G | A,C |
| rs3743930 | 15071491 | 4210 | MEFV | umls:C0002726 | BeFree | The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. | 0.064186018 | 2004 | MEFV | 16 | 3254626 | C | G |
| rs3743930 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3254626 | C | G |
| rs63750526 | 20630068 | 5663 | PSEN1 | umls:C0002726 | BeFree | This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. | 0.121085767 | 2010 | PSEN1 | 14 | 73192832 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001409 | Portal hypertension | MP:0000231 | hypertension;HP:0001406 | Intrahepatic cholestasis |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002716 | Lymphadenopathy | MP:0002420 | abnormal adaptive immunity;HP:0000112 | Nephropathy |
Chemical(Total Drugs:9) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0002726 | colchicine | D003078 | 64-86-8 | amyloidosis | MESH:D000686 | marker/mechanism | 1499522 | ||
| C0002726 | colchicine | D003078 | 64-86-8 | amyloidosis | MESH:D000686 | therapeutic | 1604496 | ||
| C0002726 | diethylstilbestrol | D004054 | 56-53-1 | amyloidosis | MESH:D000686 | therapeutic | 15469931 | ||
| C0002726 | everolimus | D000068338 | - | amyloidosis | MESH:D000686 | marker/mechanism | 24040781 | ||
| C0002726 | melphalan | D008558 | 148-82-3 | amyloidosis | MESH:D000686 | therapeutic | 10578165 | ||
| C0002726 | metformin | D008687 | 657-24-9 | amyloidosis | MESH:D000686 | therapeutic | 15983227 | ||
| C0002726 | milrinone | D020105 | 78415-72-2 | amyloidosis | MESH:D000686 | therapeutic | 12148128 | ||
| C0002726 | phenytoin | D010672 | 57-41-0 | amyloidosis | MESH:D000686 | marker/mechanism | 2511368 | ||
| C0002726 | rosiglitazone | C089730 | - | amyloidosis | MESH:D000686 | therapeutic | 15983227 | ||
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D000686 | afinitor | everolimus | 5MG | TABLET;ORAL | Prescription | None | Yes | No |
FDA labeling changes(Total Drugs:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D000686 | 10/29/2010 | afinitor | everolimus | Treatment of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis | Approved for treatment of patients with SEGA associated with TS An open-label, single-arm safety and efficacy trial was conducted in 28 patients 3-34 years with SEGA associated with TS Afinitor has not been studied in patients with SEGA < 3 years of ageMost common adverse reactions (incidence e30%) were stomatitis, upper respiratory tract infection, sinusitis, otitis media, and pyrexiaDose reduction and/or treatment interruption may be needed to manage adverse drug reactions Information on starting dose, therapeutic drug monitoring, clinical trial, and adverse reactions New indication | Labeling | B | - | - | - | Novartis | - | FALSE' |