PedAM

Pediatric Disease Annotations & Medicines


	idiopathic pulmonary hypertension

Disease ID	1231
Disease	idiopathic pulmonary hypertension
Definition	Increased blood pressure in the arteries of the lungs; the etiology is unknown.
Synonym	essential pulmonary hypertension hypertension primary pulmonary hypertension, pulmonary, primary idiopathic pulmonary arterial hypertension ipah ppht - primary pulmonary hypertension prim pulm hypertension primary pulmonary hypertension primary pulmonary hypertension (disorder) pulmonary hypertension primary pulmonary hypertension, essential pulmonary hypertension, idiopathic pulmonary hypertension, primary pulmonary primary hypertension
Orphanet	ORPHANET:275766
DOID	DOID:14557
ICD10	ICD10CM:I27.0
UMLS	C0152171
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0009782 \| connective tissue disease \| 8 C0152021 \| congenital heart disease \| 6 C0018799 \| heart disease \| 6 C1619734 \| pulmonary arterial hypertension \| 4 C0018801 \| heart failure \| 3 C0036421 \| systemic sclerosis \| 2 C0009782 \| connective tissue diseases \| 2 C0013371 \| shigella \| 2 C0018799 \| heart diseases \| 1 C0266526 \| norrie disease \| 1 C1145670 \| respiratory failure \| 1 C0398623 \| hypercoagulability \| 1 C0020538 \| hypertension \| 1 C1700942 \| idiopathic pulmonary arterial hypertension \| 1 C0042373 \| vascular disease \| 1 C0023890 \| cirrhosis \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0153500 \| heart ca \| 1 C0011644 \| scleroderma \| 1 C0020550 \| hyperthyroidism \| 1 C1527336 \| sjogren's syndrome \| 1 C0018799 \| cardiac disorders \| 1 C0040053 \| thrombus \| 1 C0040053 \| thrombosis \| 1 C0020542 \| pulmonary hypertension \| 1 C0002871 \| anemia \| 1 C0024115 \| pulmonary disease \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C0018802 \| congestive heart failure \| 1 C0028754 \| obesity \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) BMPR2 \| 659 \| CLINVAR;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:119) 5954 \| RCN1 \| DISEASES 5607 \| MAP2K5 \| DISEASES 28962 \| OSTM1 \| DISEASES 7049 \| TGFBR3 \| DISEASES 4792 \| NFKBIA \| DISEASES 5327 \| PLAT \| DISEASES 3972 \| LHB \| DISEASES 3202 \| HOXA5 \| DISEASES 5054 \| SERPINE1 \| DISEASES 59 \| ACTA2 \| DISEASES 6348 \| CCL3 \| DISEASES 3216 \| HOXB6 \| DISEASES 55770 \| EXOC2 \| DISEASES 7035 \| TFPI \| DISEASES 92 \| ACVR2A \| DISEASES 652 \| BMP4 \| DISEASES 6945 \| MLX \| DISEASES 200315 \| APOBEC3A \| DISEASES 2006 \| ELN \| DISEASES 2922 \| GRP \| DISEASES 27429 \| HTRA2 \| DISEASES 3357 \| HTR2B \| DISEASES 9568 \| GABBR2 \| DISEASES 28234 \| SLCO1B3 \| DISEASES 7450 \| VWF \| DISEASES 6532 \| SLC6A4 \| DISEASES 90 \| ACVR1 \| DISEASES 3004 \| GZMM \| DISEASES 658 \| BMPR1B \| DISEASES 3827 \| KNG1 \| DISEASES 10312 \| TCIRG1 \| DISEASES 92579 \| G6PC3 \| DISEASES 5972 \| REN \| DISEASES 8795 \| TNFRSF10B \| DISEASES 4715 \| NDUFB9 \| DISEASES 133 \| ADM \| DISEASES 654 \| BMP6 \| DISEASES 760 \| CA2 \| DISEASES 4091 \| SMAD6 \| DISEASES 11309 \| SLCO2B1 \| DISEASES 70 \| ACTC1 \| DISEASES 1636 \| ACE \| DISEASES 5739 \| PTGIR \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 27242 \| TNFRSF21 \| DISEASES 4846 \| NOS3 \| DISEASES 2923 \| PDIA3 \| DISEASES 1548 \| CYP2A6 \| DISEASES 154 \| ADRB2 \| DISEASES 8436 \| SDPR \| DISEASES 649 \| BMP1 \| DISEASES 3777 \| KCNK3 \| DISEASES 1241 \| LTB4R \| DISEASES 5340 \| PLG \| DISEASES 1072 \| CFL1 \| DISEASES 1579 \| CYP4A11 \| DISEASES 1909 \| EDNRA \| DISEASES 10938 \| EHD1 \| DISEASES 2200 \| FBN1 \| DISEASES 3212 \| HOXB2 \| DISEASES 796 \| CALCA \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 2152 \| F3 \| DISEASES 3984 \| LIMK1 \| DISEASES 9376 \| SLC22A8 \| DISEASES 3363 \| HTR7 \| DISEASES 3266 \| ERAS \| DISEASES 9402 \| GRAP2 \| DISEASES 93 \| ACVR2B \| DISEASES 259307 \| IL4I1 \| DISEASES 8654 \| PDE5A \| DISEASES 27030 \| MLH3 \| DISEASES 4624 \| MYH6 \| DISEASES 7048 \| TGFBR2 \| DISEASES 11005 \| SPINK5 \| DISEASES 4311 \| MME \| DISEASES 3151 \| HMGN2 \| DISEASES 23038 \| WDTC1 \| DISEASES 7042 \| TGFB2 \| DISEASES 6582 \| SLC22A2 \| DISEASES 6580 \| SLC22A1 \| DISEASES 6993 \| DYNLT1 \| DISEASES 7432 \| VIP \| DISEASES 462 \| SERPINC1 \| DISEASES 9124 \| PDLIM1 \| DISEASES 1558 \| CYP2C8 \| DISEASES 2022 \| ENG \| DISEASES 8200 \| GDF5 \| DISEASES 240 \| ALOX5 \| DISEASES 659 \| BMPR2 \| DISEASES 1889 \| ECE1 \| DISEASES 978 \| CDA \| DISEASES 3397 \| ID1 \| DISEASES 4879 \| NPPB \| DISEASES 4878 \| NPPA \| DISEASES 5394 \| EXOSC10 \| DISEASES 2550 \| GABBR1 \| DISEASES 7056 \| THBD \| DISEASES 1910 \| EDNRB \| DISEASES 8718 \| TNFRSF25 \| DISEASES 9356 \| SLC22A6 \| DISEASES 650 \| BMP2 \| DISEASES 1906 \| EDN1 \| DISEASES 1059 \| CENPB \| DISEASES 4093 \| SMAD9 \| DISEASES 241 \| ALOX5AP \| DISEASES 3150 \| HMGN1 \| DISEASES 1186 \| CLCN7 \| DISEASES 94 \| ACVRL1 \| DISEASES 6152 \| RPL24 \| DISEASES 655 \| BMP7 \| DISEASES 23365 \| ARHGEF12 \| DISEASES 8091 \| HMGA2 \| DISEASES 501 \| ALDH7A1 \| DISEASES 22862 \| FNDC3A \| DISEASES 1316 \| KLF6 \| DISEASES 2317 \| FLNB \| DISEASES 4782 \| NFIC \| DISEASES
Locus	(Waiting for update.)

Disease ID	1231
Disease	idiopathic pulmonary hypertension
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001635 \| Congestive heart failure \| 3 HP:0001631 \| Atria septal defect \| 2 HP:0011675 \| Arrhythmias \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0030666 \| Retinal neovascularisation \| 1 HP:0002105 \| Hemoptysis \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0000822 \| Hypertension \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0005294 \| Arterial dissection \| 1 HP:0005115 \| arrhythmias, Supraventricular \| 1 HP:0004964 \| Hypertrophy of the pulmonary artery wall \| 1 HP:0001513 \| Obesity \| 1 HP:0001903 \| Anemia \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0030402 \| Abnormal platelet aggregation \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0002797 \| Increased bone resorption \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0100721 \| Mediastinal lymphadenopathy \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0001907 \| Thromboembolic disease \| 1

Disease ID	1231
Disease	idiopathic pulmonary hypertension
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0018801 \| heart failure \| 2 C0856169 \| endothelial dysfunction \| 1 C0040038 \| thromboembolism \| 1 C0344706 \| right atrial appendage aneurysm \| 1 C1839611 \| n syndrome \| 1

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

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10744676	20556823	3741	KCNA5	umls:C0152171	BeFree	Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc.	0.001900093	2010	KCNA5	12	5043783	C	T
rs137852741	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202556360	C	G,T
rs137852741	21622843	659	BMPR2	umls:C0152171	BeFree	Three BMPR2 mutants, D485G, N519K, and R899X, which are known to be involved in PAH, were chosen as our model system.	0.15338735	2011	BMPR2	2	202556360	C	G,T
rs137852742	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202464950	C	G
rs137852743	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202467625	T	G
rs137852744	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202530866	G	A
rs137852745	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202552756	A	G
rs137852745	21622843	659	BMPR2	umls:C0152171	BeFree	Three BMPR2 mutants, D485G, N519K, and R899X, which are known to be involved in PAH, were chosen as our model system.	0.15338735	2011	BMPR2	2	202552756	A	G
rs137852746	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202552773	C	T
rs137852747	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202513807	C	A
rs137852748	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202556282	C	T
rs137852749	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202552774	G	A
rs137852750	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202467638	T	A,C
rs137852751	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202530820	C	T
rs137852752	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202556361	G	A,C
rs137852752	15965979	659	BMPR2	umls:C3203102	UNIPROT	BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.	0.210314791	2005	BMPR2	2	202556361	G	A,C
rs137852753	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202518831	C	T
rs344781	20967855	343170	OR14K1	umls:C0152171	BeFree	In the Italian cohort, the rs344781 G allele was associated with SSc-related digital ulceration (odds ratio [OR] 1.39), pulmonary arterial hypertension (PAH) (OR 1.81), anticentromere antibody (ACA) positivity (OR 1.45), and limited cutaneous SSc (lcSSc) (OR 1.37).	0.000271442	2011	PLAUR	19	43670636	C	T
rs483352902	NA	659	BMPR2	umls:C0152171	CLINVAR	NA	0.15338735	NA	BMPR2	2	202377518	C	-
rs5743704	21905008	7097	TLR2	umls:C0152171	BeFree	Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomerase positivity, the diffuse form of the disease, and the development of PAH.	0.000271442	2012	TLR2	4	153704799	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:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

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