PedAM

Pediatric Disease Annotations & Medicines


	polycystic kidney diseases

Disease ID	1121
Disease	polycystic kidney diseases
Definition	hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed cysts within the kidney; there is an autosomal recessive form appearing in childhood and a later appearing autosomal dominant form; a similar acquired disease sometimes accompanies end-stage renal disease.
Synonym	congenital polycystic kidney disease, polycystic kidney disease, polycystic renal diseases, polycystic kidney diseases, polycystic renal fibrocystic renal disease kidney disease, polycystic kidney diseases, polycystic kidney polycystic kidney, polycystic kidney, polycystic disease pck - polycystic kidney disease pkd - polycystic kidney disease polycystic kidney polycystic kidney dis polycystic kidney disease polycystic kidney disease (disorder) polycystic kidney disease nos polycystic kidney disease nos (disorder) polycystic kidney diseases [disease/finding] polycystic kidney dysplasia polycystic kidney nos polycystic kidney, unspecified type polycystic kidneys polycystic renal disease polycystic renal diseases renal disease, polycystic renal diseases, polycystic
DOID	DOID:898
UMLS	C0022680
MeSH	D007690
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:84) C0035078 \| renal failure \| 13 C0022658 \| renal disease \| 13 C0020538 \| hypertension \| 11 C0022661 \| end-stage renal disease \| 10 C0023895 \| liver disease \| 7 C0022658 \| kidney disease \| 6 C0158683 \| polycystic liver disease \| 6 C0041341 \| tuberous sclerosis \| 6 C0022661 \| chronic renal failure \| 4 C0007766 \| intracranial aneurysm \| 4 C0007766 \| cranial aneurysm \| 4 C0022679 \| cystic kidney \| 4 C0022679 \| cystic kidneys \| 4 C0041341 \| tuberous sclerosis complex \| 3 C0007134 \| renal cell carcinoma \| 3 C0027726 \| nephrotic syndrome \| 3 C0011847 \| diabetes \| 3 C0022658 \| nephropathy \| 2 C0007222 \| cardiovascular disease \| 2 C0022661 \| chronic kidney disease \| 2 C0022658 \| kidney diseases \| 2 C0022661 \| end stage renal failure \| 2 C0041296 \| tuberculosis \| 2 C0392525 \| nephrolithiasis \| 2 C0042373 \| vascular disease \| 2 C0022661 \| end-stage kidney disease \| 2 C0162510 \| caroli syndrome \| 2 C0017658 \| glomerulonephritis \| 2 C0007766 \| intracranial aneurysms \| 2 C0017665 \| membranous nephropathy \| 2 C0162510 \| caroli's syndrome \| 2 C0035078 \| kidney failure \| 1 C0021828 \| intestinal atresia \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0035333 \| retinitis \| 1 C0019322 \| umbilical hernia \| 1 C0042133 \| uterine leiomyoma \| 1 C0022661 \| end stage renal disease \| 1 C0022661 \| end stage kidney disease \| 1 C0687120 \| medullary cystic disease \| 1 C0011860 \| type ii diabetes mellitus \| 1 C0206624 \| hepatoblastoma \| 1 C0020295 \| hydronephrosis \| 1 C0917996 \| cerebral aneurysm \| 1 C0010051 \| coronary artery aneurysms \| 1 C0008924 \| cleft lip \| 1 C0035304 \| retinal degeneration \| 1 C0041948 \| uremia \| 1 C0011860 \| type ii diabetes \| 1 C0027697 \| nephritis \| 1 C0241961 \| renal angiomyolipoma \| 1 C0001339 \| acute pancreatitis \| 1 C0023267 \| leiomyoma \| 1 C0041296 \| mycobacterium tuberculosis infection \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0024299 \| lymphoma \| 1 C0078981 \| arachnoid cysts \| 1 C0022661 \| end-stage renal failure \| 1 C1384514 \| primary aldosteronism \| 1 C0011848 \| diabetes insipidus \| 1 C0013384 \| dyskinesia \| 1 C0158699 \| renal agenesis \| 1 C0020428 \| aldosteronism \| 1 C0008311 \| cholangitis \| 1 C0206633 \| angiomyolipoma \| 1 C0878544 \| cardiomyopathy \| 1 C0035334 \| retinitis pigmentosa \| 1 C0206669 \| hepatic adenoma \| 1 C0030305 \| pancreatitis \| 1 C0338585 \| carotid artery dissection \| 1 C0403416 \| crescentic glomerulonephritis \| 1 C0033687 \| proteinuria \| 1 C0010964 \| dandy-walker malformation \| 1 C0687720 \| central diabetes insipidus \| 1 C0008780 \| primary ciliary dyskinesia \| 1 C1960469 \| left ventricular noncompaction \| 1 C0031154 \| peritonitis \| 1 C0006267 \| bronchiectasis \| 1 C0078981 \| arachnoid cyst \| 1 C1565489 \| renal insufficiency \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0027830 \| neurofibromas \| 1 C0011849 \| diabetes mellitus \| 1 C0010051 \| coronary artery aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) PKD1 \| 5310 \| CTD_human SEC63 \| 11231 \| CTD_human PRKCSH \| 5589 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 1636 \| ACE \| infer 118 \| ADD1 \| infer 183 \| AGT \| infer 185 \| AGTR1 \| infer 1889 \| ECE1 \| infer 1906 \| EDN1 \| infer 1956 \| EGFR \| infer 4846 \| NOS3 \| infer 5310 \| PKD1 \| infer 5311 \| PKD2 \| infer 5314 \| PKHD1 \| infer 5313 \| PKLR \| infer 7040 \| TGFB1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1121
Disease	polycystic kidney diseases
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0001407 \| Hepatic cysts HP:0001653 \| Mitral valve insufficiency HP:0000113 \| Polycystic kidney dysplasia HP:0007029 \| Cerebral saccular aneurysm HP:0002253 \| Colonic diverticulosis HP:0000083 \| Renal insufficiency HP:0001634 \| Mitral valve prolapse
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:74) HP:0003774 \| End-stage renal failure \| 17 HP:0000083 \| Renal insufficiency \| 14 HP:0000107 \| Renal cyst \| 14 HP:0000822 \| Hypertension \| 11 HP:0002617 \| Aneurysmal dilatation \| 10 HP:0006706 \| Cystic liver disease \| 6 HP:0004944 \| Cerebral artery aneurysm \| 5 HP:0006557 \| Polycystic liver disease \| 5 HP:0012531 \| Pain \| 4 HP:0000787 \| Renal calculi \| 4 HP:0002647 \| Aortic dissection \| 4 HP:0005584 \| Renal cell carcinoma \| 3 HP:0030731 \| Carcinoma \| 3 HP:0000100 \| Nephrosis \| 3 HP:0012578 \| Membranous glomerulonephritis \| 2 HP:0012532 \| Chronic pain \| 2 HP:0000105 \| Renal enlargement \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0000099 \| Glomerular nephritis \| 2 HP:0000112 \| Nephropathy \| 2 HP:0002664 \| Neoplasia \| 2 HP:0001919 \| Acute renal failure \| 1 HP:0002586 \| Peritonitis \| 1 HP:0030151 \| Cholangitis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0100660 \| Dyskinesis \| 1 HP:0012035 \| Steatocystoma multiplex \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0006772 \| Angiomyolipoma \| 1 HP:0000131 \| Uterine leiomyoma \| 1 HP:0000125 \| Pelvic kidney \| 1 HP:0002612 \| Congenital hepatic fibrosis \| 1 HP:0005978 \| Noninsulin dependent diabetes mellitus \| 1 HP:0001541 \| Ascites \| 1 HP:0000126 \| Hydronephrosis \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0001537 \| Umbilical hernias \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0008653 \| Crescentic glomerulonephritis \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0000790 \| Hematuria \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1 HP:0000093 \| Proteinuria \| 1 HP:0011100 \| Intestinal atresia \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0002589 \| Gastrointestinal atresia \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0009726 \| Renal neoplasm \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002240 \| Enlarged liver \| 1 HP:0002884 \| Hepatoblastoma \| 1 HP:0008551 \| Hypoplasia of the external ear \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0000863 \| Neurohypophyseal diabetes insipidus \| 1 HP:0002157 \| Azotaemia \| 1 HP:0000123 \| Nephritis \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0001824 \| Weight loss \| 1 HP:0012028 \| Hepatocellular adenoma \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001407 \| Hepatic cysts \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0002253 \| Colonic diverticulosis \| 1 HP:0001395 \| Hepatic fibrosis \| 1 HP:0012158 \| Carotid artery dissection \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0012265 \| Ciliary dyskinesia \| 1

Disease ID	1121
Disease	polycystic kidney diseases
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:19) C0020538 \| hypertension \| 11 C0022658 \| renal disease \| 10 C0009450 \| infection \| 10 C0022661 \| end-stage renal disease \| 8 C0035078 \| renal failure \| 8 C0340643 \| aortic dissection \| 4 C0030193 \| pain \| 4 C0007134 \| renal cell carcinoma \| 3 C0019080 \| hemorrhage \| 2 C0007766 \| intracranial aneurysms \| 2 C0022661 \| chronic renal failure \| 2 C0086445 \| idiopathic membranous nephropathy \| 2 C0041948 \| uremia \| 1 C0267834 \| liver cyst \| 1 C0917996 \| cerebral aneurysm \| 1 C0403383 \| renal cyst infection \| 1 C0033687 \| proteinuria \| 1 C0009714 \| congenital hepatic fibrosis \| 1 C0241961 \| renal angiomyolipoma \| 1

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

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

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0022680	rosiglitazone	C089730	-	polycystic kidney diseases	MESH:D007690	therapeutic	20507283
C0022680	sirolimus	D020123	53123-88-9	polycystic kidney diseases	MESH:D007690	therapeutic	19321761

FDA approved drug and dosage information(Total Drugs:2)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D007690	rapamune	sirolimus	1MG/ML	SOLUTION;ORAL	Prescription	None	Yes	Yes
MESH:D007690	rapamune	sirolimus	1MG	TABLET;ORAL	Prescription	AB	Yes	No

FDA labeling changes(Total Drugs:2)
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:D007690	11/3/2005	rapamune	sirolimus	Prophylaxis of organ rejection in patients undergoing renal transplants	Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (	Labeling	B	-	-	-	Wyeth	11/17/2004	FALSE'
MESH:D007690	11/3/2005	rapamune	sirolimus	Prophylaxis of organ rejection in patients undergoing renal transplants	Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (	Labeling	B	-	-	-	Wyeth	11/17/2004	FALSE'

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