PedAM

Pediatric Disease Annotations & Medicines


	uremia

Disease ID	724
Disease	uremia
Definition	A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.
Synonym	uraemia uraemia nos uraemia, nos uremia (disorder) uremia [disease/finding] uremia nos uremia of renal origin uremia, nos uremias
DOID	DOID:4676
UMLS	C0041948
MeSH	D014511
SNOMED-CT	SNOMEDCT_US_2016_09_01:44730006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:36) C0022658 \| renal disease \| 6 C0004153 \| atherosclerosis \| 4 C0022658 \| kidney disease \| 3 C0022661 \| end-stage renal disease \| 2 C0002871 \| anemia \| 2 C0031046 \| pericarditis \| 2 C0035078 \| renal failure \| 2 C0022661 \| chronic kidney disease \| 2 C0027726 \| nephrotic syndrome \| 1 C0155616 \| secondary hypertension \| 1 C0040053 \| thrombosis \| 1 C0017574 \| gingivitis \| 1 C0268713 \| congenital nephrotic syndrome \| 1 C0022661 \| chronic renal failure \| 1 C0033845 \| pseudotumor cerebri \| 1 C0022679 \| cystic kidney \| 1 C0154251 \| lipid disorders \| 1 C0022672 \| acute tubular necrosis \| 1 C1510471 \| vitamin deficiency \| 1 C0007785 \| cerebral infarction \| 1 C0878544 \| cardiomyopathy \| 1 C0041956 \| ureteral obstruction \| 1 C0020295 \| hydronephrosis \| 1 C0020538 \| hypertension \| 1 C0026718 \| mucormycosis \| 1 C0152025 \| polyneuropathy \| 1 C0006112 \| metabolic encephalopathy \| 1 C0018784 \| sensorineural hearing loss \| 1 C0035078 \| kidney failure \| 1 C0020503 \| secondary hyperparathyroidism \| 1 C0442874 \| neuropathy \| 1 C0162429 \| malnutrition \| 1 C0022661 \| chronic renal disease \| 1 C0034063 \| pulmonary edema \| 1 C0020502 \| hyperparathyroidism \| 1 C0007785 \| cerebral infarct \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) ICAM1 \| 3383 \| CTD_human NOS3 \| 4846 \| CTD_human TGFB1 \| 7040 \| CTD_human VCAM1 \| 7412 \| CTD_human KDR \| 3791 \| CTD_human RUNX2 \| 860 \| CTD_human SPP1 \| 6696 \| CTD_human TNFRSF11B \| 4982 \| CTD_human FLT1 \| 2321 \| CTD_human EPO \| 2056 \| CTD_human TGFBR1 \| 7046 \| CTD_human SPARC \| 6678 \| CTD_human PTH \| 5741 \| CTD_human BMP2 \| 650 \| CTD_human VDR \| 7421 \| CTD_human SGK1 \| 6446 \| CTD_human MGP \| 4256 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5444 \| PON1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:210) 100126791 \| EGOT \| DISEASES 2287 \| FKBP3 \| DISEASES 1666 \| DECR1 \| DISEASES 5327 \| PLAT \| DISEASES 56729 \| RETN \| DISEASES 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 23770 \| FKBP8 \| DISEASES 5444 \| PON1 \| DISEASES 10135 \| NAMPT \| DISEASES 4967 \| OGDH \| DISEASES 55033 \| FKBP14 \| DISEASES 5054 \| SERPINE1 \| DISEASES 4353 \| MPO \| DISEASES 6347 \| CCL2 \| DISEASES 4621 \| MYH3 \| DISEASES 345 \| APOC3 \| DISEASES 1594 \| CYP27B1 \| DISEASES 4256 \| MGP \| DISEASES 2026 \| ENO2 \| DISEASES 2690 \| GHR \| DISEASES 338 \| APOB \| DISEASES 2677 \| GGCX \| DISEASES 335 \| APOA1 \| DISEASES 7276 \| TTR \| DISEASES 5311 \| PKD2 \| DISEASES 8074 \| FGF23 \| DISEASES 5507 \| PPP1R3C \| DISEASES 8600 \| TNFSF11 \| DISEASES 4852 \| NPY \| DISEASES 11328 \| FKBP9 \| DISEASES 90459 \| ERI1 \| DISEASES 3630 \| INS \| DISEASES 3040 \| HBA2 \| DISEASES 348 \| APOE \| DISEASES 2056 \| EPO \| DISEASES 10343 \| PKDREJ \| DISEASES 314 \| AOC2 \| DISEASES 113 \| ADCY7 \| DISEASES 1401 \| CRP \| DISEASES 8170 \| SLC14A2 \| DISEASES 64328 \| XPO4 \| DISEASES 967 \| CD63 \| DISEASES 10220 \| GDF11 \| DISEASES 3569 \| IL6 \| DISEASES 7111 \| TMOD1 \| DISEASES 2660 \| MSTN \| DISEASES 4069 \| LYZ \| DISEASES 7450 \| VWF \| DISEASES 10162 \| LPCAT3 \| DISEASES 10681 \| GNB5 \| DISEASES 5310 \| PKD1 \| DISEASES 3674 \| ITGA2B \| DISEASES 51816 \| CECR1 \| DISEASES 22858 \| ICK \| DISEASES 8578 \| SCARF1 \| DISEASES 6855 \| SYP \| DISEASES 3553 \| IL1B \| DISEASES 6403 \| SELP \| DISEASES 4036 \| LRP2 \| DISEASES 590 \| BCHE \| DISEASES 5443 \| POMC \| DISEASES 3383 \| ICAM1 \| DISEASES 2028 \| ENPEP \| DISEASES 793 \| CALB1 \| DISEASES 58488 \| PCTP \| DISEASES 10140 \| TOB1 \| DISEASES 207 \| AKT1 \| DISEASES 5972 \| REN \| DISEASES 3484 \| IGFBP1 \| DISEASES 3606 \| IL18 \| DISEASES 5741 \| PTH \| DISEASES 6750 \| SST \| DISEASES 1636 \| ACE \| DISEASES 6777 \| STAT5B \| DISEASES 7412 \| VCAM1 \| DISEASES 2215 \| FCGR3B \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 308 \| ANXA5 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 4846 \| NOS3 \| DISEASES 55530 \| SVOP \| DISEASES 81693 \| AMN \| DISEASES 4160 \| MC4R \| DISEASES 9382 \| COG1 \| DISEASES 50964 \| SOST \| DISEASES 5617 \| PRL \| DISEASES 189 \| AGXT \| DISEASES 3479 \| IGF1 \| DISEASES 121340 \| SP7 \| DISEASES 7200 \| TRH \| DISEASES 10887 \| PROKR1 \| DISEASES 2815 \| GP9 \| DISEASES 5881 \| RAC3 \| DISEASES 160065 \| PATE1 \| DISEASES 79660 \| PPP1R3B \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 4023 \| LPL \| DISEASES 2286 \| FKBP2 \| DISEASES 836 \| CASP3 \| DISEASES 358 \| AQP1 \| DISEASES 641371 \| ACOT1 \| DISEASES 137735 \| ABRA \| DISEASES 3952 \| LEP \| DISEASES 2688 \| GH1 \| DISEASES 120103 \| SLC36A4 \| DISEASES 282679 \| AQP11 \| DISEASES 363 \| AQP6 \| DISEASES 9370 \| ADIPOQ \| DISEASES 23019 \| CNOT1 \| DISEASES 4018 \| LPA \| DISEASES 23539 \| SLC16A8 \| DISEASES 5745 \| PTH1R \| DISEASES 3039 \| HBA1 \| DISEASES 9622 \| KLK4 \| DISEASES 4843 \| NOS2 \| DISEASES 6906 \| SERPINA7 \| DISEASES 2811 \| GP1BA \| DISEASES 2520 \| GAST \| DISEASES 796 \| CALCA \| DISEASES 1675 \| CFD \| DISEASES 2152 \| F3 \| DISEASES 401190 \| RGS7BP \| DISEASES 51738 \| GHRL \| DISEASES 283 \| ANG \| DISEASES 10957 \| PNRC1 \| DISEASES 4221 \| MEN1 \| DISEASES 9376 \| SLC22A8 \| DISEASES 135138 \| PACRG \| DISEASES 6799 \| SULT1A2 \| DISEASES 78989 \| COLEC11 \| DISEASES 9639 \| ARHGEF10 \| DISEASES 6776 \| STAT5A \| DISEASES 29949 \| IL19 \| DISEASES 31 \| ACACA \| DISEASES 7316 \| UBC \| DISEASES 5606 \| MAP2K3 \| DISEASES 100506658 \| OCLN \| DISEASES 6898 \| TAT \| DISEASES 55503 \| TRPV6 \| DISEASES 4151 \| MB \| DISEASES 387129 \| NPSR1 \| DISEASES 51150 \| SDF4 \| DISEASES 2157 \| F8 \| DISEASES 7703 \| PCGF2 \| DISEASES 23038 \| WDTC1 \| DISEASES 7139 \| TNNT2 \| DISEASES 5110 \| PCMT1 \| DISEASES 462 \| SERPINC1 \| DISEASES 2328 \| FMO3 \| DISEASES 2214 \| FCGR3A \| DISEASES 632 \| BGLAP \| DISEASES 6283 \| S100A12 \| DISEASES 959 \| CD40LG \| DISEASES 23626 \| SPO11 \| DISEASES 860 \| RUNX2 \| DISEASES 7422 \| VEGFA \| DISEASES 310 \| ANXA7 \| DISEASES 7099 \| TLR4 \| DISEASES 84676 \| TRIM63 \| DISEASES 7580 \| ZNF32 \| DISEASES 63940 \| GPSM3 \| DISEASES 2155 \| F7 \| DISEASES 80740 \| LY6G6C \| DISEASES 55937 \| APOM \| DISEASES 7056 \| THBD \| DISEASES 8029 \| CUBN \| DISEASES 9356 \| SLC22A6 \| DISEASES 650 \| BMP2 \| DISEASES 1906 \| EDN1 \| DISEASES 79625 \| NDNF \| DISEASES 390598 \| SKOR1 \| DISEASES 9365 \| KL \| DISEASES 795 \| S100G \| DISEASES 551 \| AVP \| DISEASES 3486 \| IGFBP3 \| DISEASES 7436 \| VLDLR \| DISEASES 11325 \| DDX42 \| DISEASES 2591 \| GALNT3 \| DISEASES 6696 \| SPP1 \| DISEASES 655 \| BMP7 \| DISEASES 5744 \| PTHLH \| DISEASES 7441 \| VPREB1 \| DISEASES 7018 \| TF \| DISEASES 114781 \| BTBD9 \| DISEASES 22891 \| ZNF365 \| DISEASES 2641 \| GCG \| DISEASES 6563 \| SLC14A1 \| DISEASES 3481 \| IGF2 \| DISEASES 2260 \| FGFR1 \| DISEASES 197 \| AHSG \| DISEASES 1029 \| CDKN2A \| DISEASES 3550 \| IK \| DISEASES 720 \| C4A \| DISEASES 7124 \| TNF \| DISEASES 7812 \| CSDE1 \| DISEASES 3586 \| IL10 \| DISEASES 721 \| C4B \| DISEASES 846 \| CASR \| DISEASES 9948 \| WDR1 \| DISEASES 114907 \| FBXO32 \| DISEASES 7421 \| VDR \| DISEASES 8972 \| MGAM \| DISEASES 51303 \| FKBP11 \| DISEASES 567 \| B2M \| DISEASES 344 \| APOC2 \| DISEASES 246734 \| NPCDR1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	724
Disease	uremia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0002621 \| Atherosclerosis \| 4 HP:0003774 \| End-stage renal failure \| 3 HP:0001701 \| Pericarditis \| 2 HP:0004934 \| Vascular calcification \| 2 HP:0004943 \| Accelerated atherosclerosis \| 2 HP:0002721 \| Immunodeficiency \| 2 HP:0002719 \| infections, recurrent \| 2 HP:0001298 \| Encephalopathy \| 2 HP:0001903 \| Anemia \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0000989 \| pruritis \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0004395 \| Malnutrition \| 1 HP:0000822 \| Hypertension \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0008677 \| Congenital nephrosis \| 1 HP:0008682 \| Renal tubular necrosis \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0000230 \| Inflamed gums \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0006000 \| Ureteral obstruction \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0003228 \| High blood sodium levels \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0000969 \| Dropsy \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001824 \| Weight loss \| 1 HP:0000126 \| Hydronephrosis \| 1 HP:0100806 \| Sepsis \| 1 HP:0002039 \| Anorexia \| 1

Disease ID	724
Disease	uremia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:19) C0022658 \| renal disease \| 6 C0004153 \| atherosclerosis \| 4 C0031046 \| pericarditis \| 2 C0002871 \| anemia \| 2 C0021051 \| immunodeficiency \| 2 C0021311 \| infections \| 2 C0022661 \| end-stage renal disease \| 2 C0034063 \| pulmonary edema \| 1 C0040053 \| thrombosis \| 1 C0878544 \| cardiomyopathy \| 1 C0442874 \| neuropathy \| 1 C0427008 \| stiffness \| 1 C0033774 \| pruritus \| 1 C0033845 \| pseudotumor cerebri \| 1 C0020538 \| hypertension \| 1 C0162429 \| malnutrition \| 1 C0003123 \| anorexia \| 1 C0020502 \| hyperparathyroidism \| 1 C1393529 \| vascular complications \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1800625	20185929	5891	MOK	umls:C0041948	GAD	[In summary, our study shows for the first time a link between RAGE and GLO polymorphisms in the prognosis of HD patients.]	0.002367032	2010	AGER;PBX2	6	32184665	A	G
rs4746	20185929	2739	GLO1	umls:C0041948	GAD	[In summary, our study shows for the first time a link between RAGE and GLO polymorphisms in the prognosis of HD patients.]	0.002367032	2010	GLO1	6	38682852	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:14)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0041948	benazepril	C044946	86541-75-5	uremia	MESH:D014511	therapeutic	9725782
C0041948	carmustine	D002330	154-93-8	uremia	MESH:D014511	marker/mechanism	11219485
C0041948	cyclophosphamide	D003520	50-18-0	uremia	MESH:D014511	marker/mechanism	582354
C0041948	cisplatin	D002945	15663-27-1	uremia	MESH:D014511	marker/mechanism	12806945
C0041948	calcitriol	D002117	32222-06-3	uremia	MESH:D014511	therapeutic	17444814
C0041948	enalapril	D004656	75847-73-3	uremia	MESH:D014511	therapeutic	17513326
C0041948	folic acid	D005492	59-30-3	uremia	MESH:D014511	marker/mechanism	4082191
C0041948	gemcitabine	C056507	103882-84-4	uremia	MESH:D014511	marker/mechanism	11219485
C0041948	indomethacin	D007213	53-86-1	uremia	MESH:D014511	marker/mechanism	311647
C0041948	norepinephrine	D009638	51-41-2	uremia	MESH:D014511	marker/mechanism	6652879
C0041948	ramipril	D017257	87333-19-5	uremia	MESH:D014511	therapeutic	12631109
C0041948	rifampin	D012293	13292-46-1	uremia	MESH:D014511	marker/mechanism	129898
C0041948	streptozocin	D013311	18883-66-4	uremia	MESH:D014511	marker/mechanism	11219485
C0041948	vincristine	D014750	-	uremia	MESH:D014511	marker/mechanism	582354

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:D014511	calcijex	calcitriol	0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons	INJECTABLE;INJECTION	Discontinued	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:D014511	11/16/2001	calcijex	calcitriol	Management of hypocalcemia in patients undergoing chronic renal dialysis	The safety and effectiveness of calcitriol was examined in a double-blind placebo-controlled trial of 35 pediatric patients (13-18 years of age) with end-stage renal disease and on dialysis. The primary efficacy endpoint favored the calcitriol-treated versus the placebo-treated patients Transient hypercalcemia was seen in 1 of 16 calcitriol-treated patients; 6 of 16 (38%) calcitriol-treated patients and 2 of 19 (11%) placebo-treated patients had Ca x P >75	Labeling	B	-	-	-	Abbott	02/16/2001	FALSE'

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