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	idiopathic pulmonary arterial hypertension

Disease ID	820
Disease	idiopathic pulmonary arterial 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 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:27) C0009782 \| connective tissue disease \| 8 C1619734 \| pulmonary arterial hypertension \| 3 C0018799 \| heart disease \| 3 C0152021 \| congenital heart disease \| 3 C0009782 \| connective tissue diseases \| 2 C0013371 \| shigella \| 2 C0036421 \| systemic sclerosis \| 2 C0018801 \| heart failure \| 2 C0153500 \| heart ca \| 1 C0018799 \| cardiac disorders \| 1 C0011644 \| scleroderma \| 1 C0018802 \| congestive heart failure \| 1 C0020538 \| hypertension \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0018799 \| heart diseases \| 1 C0028754 \| obesity \| 1 C0266526 \| norrie disease \| 1 C0002871 \| anemia \| 1 C0398623 \| hypercoagulability \| 1 C0024115 \| pulmonary disease \| 1 C0020542 \| pulmonary hypertension \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C1527336 \| sjogren's syndrome \| 1 C0020550 \| hyperthyroidism \| 1 C0042373 \| vascular disease \| 1 C0040053 \| thrombosis \| 1 C1145670 \| respiratory failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 659 \| BMPR2 \| CLINVAR;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 93 \| ACVR2B \| 2.527 \| DISEASES 94 \| ACVRL1 \| 4.381 \| DISEASES 501 \| ALDH7A1 \| 1.488 \| DISEASES 240 \| ALOX5 \| 1.421 \| DISEASES 241 \| ALOX5AP \| 1.204 \| DISEASES 23365 \| ARHGEF12 \| 1.486 \| DISEASES 23545 \| ATP6V0A2 \| 1.525 \| DISEASES 650 \| BMP2 \| 2.456 \| DISEASES 655 \| BMP7 \| 1.504 \| DISEASES 659 \| BMPR2 \| 6.617 \| DISEASES 796 \| CALCA \| 1.229 \| DISEASES 978 \| CDA \| 1.09 \| DISEASES 1059 \| CENPB \| 1.484 \| DISEASES 1186 \| CLCN7 \| 1.492 \| DISEASES 1558 \| CYP2C8 \| 1.17 \| DISEASES 6993 \| DYNLT1 \| 1.563 \| DISEASES 1889 \| ECE1 \| 1.188 \| DISEASES 1906 \| EDN1 \| 4.227 \| DISEASES 1910 \| EDNRB \| 1.603 \| DISEASES 10938 \| EHD1 \| 1.221 \| DISEASES 2022 \| ENG \| 1.091 \| DISEASES 3266 \| ERAS \| 1.978 \| DISEASES 5394 \| EXOSC10 \| 1.196 \| DISEASES 2152 \| F3 \| 1.525 \| DISEASES 2200 \| FBN1 \| 2.115 \| DISEASES 2317 \| FLNB \| 1.489 \| DISEASES 22862 \| FNDC3A \| 1.864 \| DISEASES 2550 \| GABBR1 \| 1.789 \| DISEASES 8200 \| GDF5 \| 1.362 \| DISEASES 9402 \| GRAP2 \| 1.456 \| DISEASES 8091 \| HMGA2 \| 1.326 \| DISEASES 3150 \| HMGN1 \| 2.162 \| DISEASES 3151 \| HMGN2 \| 2.45 \| DISEASES 3212 \| HOXB2 \| 2.358 \| DISEASES 3363 \| HTR7 \| 3.333 \| DISEASES 3397 \| ID1 \| 1.775 \| DISEASES 259307 \| IL4I1 \| 2.423 \| DISEASES 1316 \| KLF6 \| 1.226 \| DISEASES 3984 \| LIMK1 \| 1.364 \| DISEASES 27030 \| MLH3 \| 1.829 \| DISEASES 4311 \| MME \| 1.374 \| DISEASES 4624 \| MYH6 \| 1.016 \| DISEASES 4782 \| NFIC \| 1.282 \| DISEASES 4878 \| NPPA \| 1.448 \| DISEASES 4879 \| NPPB \| 1.108 \| DISEASES 8654 \| PDE5A \| 2.849 \| DISEASES 9124 \| PDLIM1 \| 1.351 \| DISEASES 6152 \| RPL24 \| 1.24 \| DISEASES 462 \| SERPINC1 \| 1.583 \| DISEASES 6580 \| SLC22A1 \| 1.512 \| DISEASES 6582 \| SLC22A2 \| 1.742 \| DISEASES 9356 \| SLC22A6 \| 1.758 \| DISEASES 9376 \| SLC22A8 \| 1.523 \| DISEASES 4093 \| SMAD9 \| 3.074 \| DISEASES 11005 \| SPINK5 \| 1.185 \| DISEASES 7042 \| TGFB2 \| 1.239 \| DISEASES 7048 \| TGFBR2 \| 1.945 \| DISEASES 7056 \| THBD \| 2.5 \| DISEASES 8718 \| TNFRSF25 \| 1.356 \| DISEASES 7432 \| VIP \| 1.179 \| DISEASES 23038 \| WDTC1 \| 1.018 \| DISEASES
Locus	(Waiting for update.)

Disease ID	820
Disease	idiopathic pulmonary arterial hypertension
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0001635 \| Congestive heart failure HP:0001962 \| Palpitations HP:3000042 \| Abnormality of jugular vein HP:0002094 \| Dyspnea HP:0002105 \| Hemoptysis HP:0010741 \| Edema of the lower limbs HP:0005180 \| Tricuspid regurgitation HP:0003549 \| Abnormality of connective tissue HP:0004890 \| Elevated pulmonary artery pressure HP:0001279 \| Syncope HP:0012098 \| Edema of the dorsum of feet HP:0001667 \| Right ventricular hypertrophy HP:0100749 \| Chest pain HP:0030148 \| Heart murmur HP:0002092 \| Pulmonary arterial hypertension HP:0001785 \| Ankle swelling HP:0005317 \| Increased pulmonary vascular resistance HP:0004870 \| Chronic hemolytic anemia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001635 \| Congestive heart failure \| 2 HP:0001631 \| Atria septal defect \| 2 HP:0004420 \| Arterial thrombosis \| 1 HP:0005294 \| Arterial dissection \| 1 HP:0004964 \| Hypertrophy of the pulmonary artery wall \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0000822 \| Hypertension \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0002797 \| Increased bone resorption \| 1 HP:0005115 \| arrhythmias, Supraventricular \| 1 HP:0001513 \| Obesity \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0002105 \| Hemoptysis \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001903 \| Anemia \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0030402 \| Abnormal platelet aggregation \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0100721 \| Mediastinal lymphadenopathy \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0030666 \| Retinal neovascularisation \| 1 HP:0011675 \| Arrhythmias \| 1

Disease ID	820
Disease	idiopathic pulmonary arterial hypertension
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2364118 \| weakness C0344706 \| right atrial appendage aneurysm C0032227 \| pleural effusions C0018801 \| heart failure
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0018801 \| heart failure \| 2 C0856169 \| endothelial dysfunction \| 1 C0344706 \| right atrial appendage aneurysm \| 1 C1839611 \| n syndrome \| 1 C0040038 \| thromboembolism \| 1

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

Text Mining Genotype(Total 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:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001667	Right ventricular hypertrophy	MP:0010420	muscular ventricular septal defect	abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along th
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features
HP:0010741	Edema of the lower limbs	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0002092	Pulmonary hypertension	MP:0005258	ocular hypertension	abnormal elevation of the intraocular pressure
HP:0005317	Increased pulmonary vascular resistance	MP:0010935	increased airway resistance	greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
HP:0004870	Chronic hemolytic anemia	MP:0001585	hemolytic anemia	deficiency of red cells resulting from an increased rate of erythrocyte destruction

Mapped by homologous gene(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001279	Syncope	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002092	Pulmonary hypertension	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001785	Ankle swelling	MP:0014167	ectopic bone	the appearance of an extra bone structure at an atypical location
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001667	Right ventricular hypertrophy	MP:0013241	embryo tissue necrosis	morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0100749	Chest pain	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0003549	Abnormality of connective tissue	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0005317	Increased pulmonary vascular resistance	MP:0013401	increased endometrial gland number	greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus
HP:0030148	Heart murmur	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0004870	Chronic hemolytic anemia	MP:0011178	increased erythroblast number	greater number of the nucleated precursor of erythrocytes
HP:0010741	Edema of the lower limbs	MP:0013258	abnormal extracellular matrix morphology	any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell
HP:0001962	Palpitations	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005180	Tricuspid regurgitation	MP:0013241	embryo tissue necrosis	morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0002105	Hemoptysis	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)

Disease ID	820
Disease	idiopathic pulmonary arterial hypertension
Case	(Waiting for update.)