PedAM

Pediatric Disease Annotations & Medicines


	pulmonary valve stenosis

Disease ID	416
Disease	pulmonary valve stenosis
Definition	The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Synonym	ps - pulmonary valve stenosis pulm valve stenoses pulm valve stenosis pulmonary stenosis pulmonary stenosis valve pulmonary valve stenoses pulmonary valve stenosis [disease/finding] pulmonary valve, stenosis pulmonary valve, stenosis, pure pulmonary valve--stenosis pulmonic stenoses, valvular pulmonic stenosis pulmonic stenosis, valvular pulmonic valve stenosis pulmonic valve stenosis (disorder) pulmonic valve stenosis, nos pulmonic valvular stenosis pvs - pulmonary valve stenosis stenoses pulm valve stenoses, pulmonary valve stenosis pulm valve stenosis pulmonary stenosis pulmonic valve stenosis, pulmonary valve valvular pulmonic stenoses valvular pulmonic stenosis
OMIM	OMIM:265500
DOID	DOID:6420
UMLS	C0034089
MeSH	D011666
SNOMED-CT	SNOMEDCT_US_2016_09_01:56786000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0018802 \| congestive heart failure \| 2 C0014118 \| endocarditis \| 2 C0018818 \| ventricular septal defect \| 2 C0018816 \| septal defects \| 2 C0020538 \| systemic hypertension \| 1 C0152101 \| hypoplastic left heart \| 1 C0014121 \| infective endocarditis \| 1 C0018799 \| heart disease \| 1 C0028326 \| noonan syndrome \| 1 C0020538 \| hypertension \| 1 C0152021 \| congenital heart disease \| 1 C0016522 \| patent foramen ovale \| 1 C0152101 \| hypoplastic left heart syndrome \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:55) 6820 \| SULT2B1 \| DISEASES 3696 \| ITGB8 \| DISEASES 657 \| BMPR1A \| DISEASES 1277 \| COL1A1 \| DISEASES 2006 \| ELN \| DISEASES 894 \| CCND2 \| DISEASES 5605 \| MAP2K2 \| DISEASES 50509 \| COL5A3 \| DISEASES 1462 \| VCAN \| DISEASES 2589 \| GALNT1 \| DISEASES 23118 \| TAB2 \| DISEASES 70 \| ACTC1 \| DISEASES 9965 \| FGF19 \| DISEASES 4724 \| NDUFS4 \| DISEASES 1278 \| COL1A2 \| DISEASES 9317 \| PTER \| DISEASES 161742 \| SPRED1 \| DISEASES 1292 \| COL6A2 \| DISEASES 5604 \| MAP2K1 \| DISEASES 1281 \| COL3A1 \| DISEASES 3265 \| HRAS \| DISEASES 6910 \| TBX5 \| DISEASES 8557 \| TCAP \| DISEASES 285 \| ANGPT2 \| DISEASES 137814 \| NKX2-6 \| DISEASES 78987 \| CRELD1 \| DISEASES 2200 \| FBN1 \| DISEASES 1482 \| NKX2-5 \| DISEASES 5727 \| PTCH1 \| DISEASES 9939 \| RBM8A \| DISEASES 2626 \| GATA4 \| DISEASES 7189 \| TRAF6 \| DISEASES 554 \| AVPR2 \| DISEASES 5781 \| PTPN11 \| DISEASES 23136 \| EPB41L3 \| DISEASES 2335 \| FN1 \| DISEASES 51592 \| TRIM33 \| DISEASES 1291 \| COL6A1 \| DISEASES 8036 \| SHOC2 \| DISEASES 1289 \| COL5A1 \| DISEASES 5900 \| RALGDS \| DISEASES 1290 \| COL5A2 \| DISEASES 2159 \| F10 \| DISEASES 3303 \| HSPA1A \| DISEASES 7010 \| TEK \| DISEASES 1280 \| COL2A1 \| DISEASES 55576 \| STAB2 \| DISEASES 94 \| ACVRL1 \| DISEASES 7247 \| TSN \| DISEASES 5627 \| PROS1 \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 6654 \| SOS1 \| DISEASES 4776 \| NFATC4 \| DISEASES 5817 \| PVR \| DISEASES 7148 \| TNXB \| DISEASES
Locus	(Waiting for update.)

Disease ID	416
Disease	pulmonary valve stenosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0001642 \| Pulmonic stenosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0001631 \| Atria septal defect \| 5 HP:0000961 \| Cyanosis \| 3 HP:0001629 \| Ventricular septal defects \| 2 HP:0100584 \| Endocarditis \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0001671 \| Abnormality of the cardiac septa \| 2 HP:0004383 \| Underdeveloped left heart \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0004927 \| Pulmonary artery dilatation \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0100571 \| Cardiac diverticulum \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0005164 \| Dysplastic pulmonary valve \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0011681 \| Subarterial ventricular septal defect \| 1 HP:0001627 \| Congenital heart defects \| 1

Disease ID	416
Disease	pulmonary valve stenosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0265808 \| cyanotic congenital heart disease C0152419 \| interruption of aortic arch C0152101 \| hypoplastic left heart syndrome C0041327 \| pulmonary tuberculosis C0028326 \| noonan syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0152101 \| hypoplastic left heart syndrome \| 1

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894073	22589735	2626	GATA4	umls:C0034089	BeFree	We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.	0.001085767	2012	GATA4	8	11750213	G	A,C,T
rs104894073	22589735	2626	GATA4	umls:C1956257	BeFree	We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.	0.001085767	2012	GATA4	8	11750213	G	A,C,T
rs137852812	18678287	6654	SOS1	umls:C0034089	BeFree	All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis.	0.000542884	2008	SOS1	2	39051211	G	T
rs137852812	18678287	6654	SOS1	umls:C1956257	BeFree	All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis.	0.000542884	2008	SOS1	2	39051211	G	T

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:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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