Idiopathic/heritable Pulmonary Arterial Hypertension disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IDP092 MIFTS: 41	Idiopathic/heritable Pulmonary Arterial Hypertension Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Idiopathic/heritable Pulmonary Arterial Hypertension:

Name: Idiopathic/heritable Pulmonary Arterial Hypertension ⁵⁸

Idiopathic and/or Familial Pulmonary Arterial Hypertension ⁵⁸ ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

idiopathic/heritable pulmonary arterial hypertension
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (France),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Respiratory diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Pulmonary heart disease and diseases of pulmonary circulation

Other pulmonary heart diseases

Primary pulmonary hypertension

Orphanet: ⁵⁸

Rare respiratory diseases

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Summaries for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards based summary : Idiopathic/heritable Pulmonary Arterial Hypertension, also known as idiopathic and/or familial pulmonary arterial hypertension, is related to pulmonary hypertension, primary, 1 and heritable pulmonary arterial hypertension. An important gene associated with Idiopathic/heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Wnt / Hedgehog / Notch. Affiliated tissues include heart, and related phenotypes are pulmonary arterial hypertension and dyspnea

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Related Diseases for Idiopathic/heritable Pulmonary Arterial Hypertension

Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	pulmonary hypertension, primary, 1	29.3	NOP58 KCNK3 ENG BMPR2 ACVRL1
2	heritable pulmonary arterial hypertension	29.2	SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1
3	pulmonary hypertension	27.7	SMAD9 NOP58 KCNK3 FOXF1 ENG CAV1
4	tricuspid valve insufficiency	10.0	BMPR2 ACVRL1
5	mixed connective tissue disease	10.0	BMPR2 ACVRL1
6	brachydactyly, type a2	10.0	BMPR2 ACVRL1
7	pulmonary arteriovenous malformation	10.0	ENG ACVRL1
8	telangiectasia, hereditary hemorrhagic, type 2	10.0	ENG ACVRL1
9	weber syndrome	10.0	ENG ACVRL1
10	angiodysplasia	10.0	ENG ACVRL1
11	pulmonary valve insufficiency	9.9	KCNK3 BMPR2 ACVRL1
12	arteriovenous malformations of the brain	9.9	ENG ACVRL1
13	cardiovascular organ benign neoplasm	9.9	ENG ACVRL1
14	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	9.9	ENG BMPR2 ACVRL1
15	hereditary hemorrhagic telangiectasia	9.8	ENG BMPR2 ACVRL1
16	chronic pulmonary heart disease	9.8	SMAD9 BMPR2 ACVRL1
17	hepatopulmonary syndrome	9.8	ENG BMPR2 ACVRL1
18	telangiectasis	9.8	ENG BMPR2 ACVRL1
19	arteriovenous malformation	9.8	ENG BMPR2 ACVRL1
20	juvenile polyposis syndrome	9.8	SMAD9 BMPR2 ACVRL1
21	persistent fetal circulation syndrome	9.7	FOXF1 ENG BMPR2
22	pulmonary arterial hypertension associated with congenital heart disease	9.5	SMAD9 ENG CAV1 BMPR2
23	vascular disease	9.5	ENG BMPR2 ACVRL1
24	hypertension, essential	9.4	KCNK3 ENG CAV1 BMPR2
25	pulmonary venoocclusive disease	9.1	SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1

Graphical network of the top 20 diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension:

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Symptoms & Phenotypes for Idiopathic/heritable Pulmonary Arterial Hypertension

Human phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

⁵⁸ ³¹ (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	pulmonary arterial hypertension ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002092
2	dyspnea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002094
3	hepatomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002240
4	fatigue ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012378
5	chest pain ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100749
6	syncope ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001279
7	tricuspid regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005180
8	heart murmur ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030148
9	palpitations ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001962
10	elevated jugular venous pressure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030848
11	right ventricular dilatation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005133
12	pedal edema ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0010741
13	abnormality of cardiovascular system physiology ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.8	ACVRL1 BMPR2 CAV1 ENG FOXF1 KCNK3
2	muscle	MP:0005369	9.63	ACVRL1 BMPR2 CAV1 ENG FOXF1 SMAD9
3	normal	MP:0002873	9.35	ACVRL1 BMPR2 ENG KCNK3 SMAD9
4	respiratory system	MP:0005388	9.17	ACVRL1 BMPR2 CAV1 ENG FOXF1 KCNK3

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Drugs & Therapeutics for Idiopathic/heritable Pulmonary Arterial Hypertension

Search Clinical Trials , NIH Clinical Center for Idiopathic/heritable Pulmonary Arterial Hypertension

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Genetic Tests for Idiopathic/heritable Pulmonary Arterial Hypertension

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Anatomical Context for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Idiopathic/heritable Pulmonary Arterial Hypertension:

⁴⁰

Heart

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Publications for Idiopathic/heritable Pulmonary Arterial Hypertension

Articles related to Idiopathic/heritable Pulmonary Arterial Hypertension:

(show all 23)

#	Title	Authors	PMID	Year
1	A novel channelopathy in pulmonary arterial hypertension. ⁶	Ma L...Chung WK	23883380	2013
2	Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. ⁶	Austin ED...Chung WK	22474227	2012
3	Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ⁶	Drake KM...Aldred MA	21920918	2011
4	Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. ⁶	Nasim MT...Machado RD	21898662	2011
5	A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. ⁶	Shintani M...Matsuoka R	19211612	2009
6	BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. ⁶	Aldred MA...Trembath RC	16429403	2006
7	BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. ⁶	Sankelo M...Laitinen T	15965979	2005
8	Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. ⁶	Runo JR...Phillips JA	12446270	2003
9	BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. ⁶	Humbert M...Morse JH	12358323	2002
10	BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. ⁶	Machado RD...Nichols WC	11115378	2001
11	Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. ⁶	Thomson JR...Nichols WC	11015450	2000
12	Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. ⁶	Deng Z...Knowles JA	10903931	2000
13	Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. ⁶	International PPH Consortium...Trembath RC	10973254	2000
14	The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. ⁶	Hanks SK...Hunter T	3291115	1988
15	Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results. ⁶¹	Aypar E...Ertugrul I	32290885	2020
16	Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. ⁶¹	Ogawa A...Matsubara H	29548663	2018
17	Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension. ⁶¹	Aypar E...Ertugrul I	29233198	2018
18	Clinical phenotypes and outcomes of pulmonary hypertension due to left heart disease: Role of the pre-capillary component. ⁶¹	Caravita S...Vachiery JL	29920539	2018
19	Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. ⁶¹	Ogawa A...Matsubara H	28267959	2017
20	Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights. ⁶¹	Dardi F...Galie N	26022952	2015
21	Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. ⁶¹	Ogawa A...Matsubara H	24530872	2014
22	Treatment of idiopathic/hereditary pulmonary arterial hypertension. ⁶¹	Matsubara H...Ogawa A	25082294	2014
23	STARTS-2: long-term survival with oral sildenafil monotherapy in treatment-naive pediatric pulmonary arterial hypertension. ⁶¹	Barst RJ...STARTS-2 Investigators	24637559	2014

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Genes for Idiopathic/heritable Pulmonary Arterial Hypertension

Genes related to Idiopathic/heritable Pulmonary Arterial Hypertension (8 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	16429403 11115378 12446270 (more) 10973254 10903931 11015450 12358323 15965979 3291115
2	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	23883380
3	ACVRL1	Activin A Receptor Like Type 1	Protein Coding	400	Pathogenic ⁶
4	CAV1	Caveolin 1	Protein Coding	400	Pathogenic ⁶	22474227
5	ENG	Endoglin	Protein Coding	400	Pathogenic ⁶
6	FOXF1	Forkhead Box F1	Protein Coding	400	Pathogenic ⁶
7	NOP58	NOP58 Ribonucleoprotein	Protein Coding	400	Pathogenic ⁶
8	SMAD9	SMAD Family Member 9	Protein Coding	400	Pathogenic ⁶	21898662 19211612 21920918

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Variations for Idiopathic/heritable Pulmonary Arterial Hypertension

ClinVar genetic disease variations for Idiopathic/heritable Pulmonary Arterial Hypertension:

⁶ (show top 50) (show all 743)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CAV1	NM_001753.5(CAV1):c.474del (p.Leu159fs)	Deletion	Pathogenic	56967	rs587777017	7:116199278-116199278	7:116559224-116559224
2	CAV1	NM_001753.5(CAV1):c.473del (p.Pro158fs)	Deletion	Pathogenic	56968	rs879255566	7:116199275-116199275	7:116559221-116559221
3	SMAD9	NM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter)	SNV	Pathogenic	56970	rs397514716	13:37439797-37439797	13:36865660-36865660
4	KCNK3	NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg)	SNV	Pathogenic	60480	rs398123040	2:26950540-26950540	2:26727672-26727672
5	KCNK3	NM_002246.3(KCNK3):c.661G>C (p.Val221Leu)	SNV	Pathogenic	60481	rs398123041	2:26950912-26950912	2:26728044-26728044
6	KCNK3	NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)	SNV	Pathogenic	60482	rs398123042	2:26950795-26950795	2:26727927-26727927
7	KCNK3	NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys)	SNV	Pathogenic	60483	rs398123043	2:26950826-26950826	2:26727958-26727958
8	KCNK3	NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys)	SNV	Pathogenic	426049	rs1085307438	2:26915766-26915766	2:26692898-26692898
9	SMAD9	NM_005905.6(SMAD9):c.606C>A (p.Cys202Ter)	SNV	Pathogenic	6515	rs121918359	13:37446859-37446859	13:36872722-36872722
10	SMAD9	NM_005905.6(SMAD9):c.127A>G (p.Lys43Glu)	SNV	Pathogenic	56969	rs397514715	13:37453700-37453700	13:36879563-36879563
11	CAV1	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	Indel	Pathogenic	128609	rs587780295	7:116199205-116199206	7:116559151-116559152
12	BMPR2	NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)	SNV	Pathogenic	8797	rs137852742	2:203329673-203329673	2:202464950-202464950
13	BMPR2	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	SNV	Pathogenic	8799	rs137852743	2:203332348-203332348	2:202467625-202467625
14	BMPR2	NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)	SNV	Pathogenic	8800	rs137852744	2:203395589-203395589	2:202530866-202530866
15	BMPR2	NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly)	SNV	Pathogenic	8801	rs137852745	2:203417479-203417479	2:202552756-202552756
16	BMPR2	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	SNV	Pathogenic	8802	rs137852746	2:203417496-203417496	2:202552773-202552773
17	BMPR2	BMPR2, 5-BP DEL, NT1099	Deletion	Pathogenic	8803
18	BMPR2	NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter)	SNV	Pathogenic	8804	rs137852747	2:203378530-203378530	2:202513807-202513807
19	BMPR2	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	SNV	Pathogenic	8805	rs137852748	2:203421005-203421005	2:202556282-202556282
20	BMPR2	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	SNV	Pathogenic	8806	rs137852749	2:203417497-203417497	2:202552774-202552774
21	BMPR2	BMPR2, 2-BP DEL, 1-BP INS, NT690	Indel	Pathogenic	8807
22	BMPR2	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	SNV	Pathogenic	8808	rs137852750	2:203332361-203332361	2:202467638-202467638
23	BMPR2	NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser)	SNV	Pathogenic	8809	rs137852750	2:203332361-203332361	2:202467638-202467638
24	BMPR2	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	SNV	Pathogenic	8810	rs137852751	2:203395543-203395543	2:202530820-202530820
25	BMPR2	NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro)	SNV	Pathogenic	8811	rs137852752	2:203421084-203421084	2:202556361-202556361
26	BMPR2	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	SNV	Pathogenic	8812	rs137852753	2:203383554-203383554	2:202518831-202518831
27	BMPR2	BMPR2, EX10DEL	Deletion	Pathogenic	8817
28	BMPR2	BMPR2, EX1-13DEL	Deletion	Pathogenic	8818
29	KCNK3	NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)	SNV	Pathogenic	60479	rs398123039	2:26950859-26950859	2:26727991-26727991
30	FOXF1	NM_001451.2(FOXF1):c.(?_15)_(*58_?)del	Deletion	Pathogenic	228348		16:86544190-86546749	16:86510584-86513143
31	BMPR2	NM_001204.7(BMPR2):c.1125_1128+16del	Deletion	Pathogenic	238628	rs878854272	2:203395674-203395693	2:202530951-202530970
32	BMPR2	NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del)	Deletion	Pathogenic	264652	rs886039221	2:203417466-203417468	2:202552743-202552745
33	BMPR2	NM_001204.7(BMPR2):c.853-2A>G	SNV	Pathogenic	212815	rs863223424	2:203384808-203384808	2:202520085-202520085
34	BMPR2	NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter)	SNV	Pathogenic	264650	rs886039219	2:203242213-203242213	2:202377490-202377490
35	BMPR2	NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val)	SNV	Pathogenic	264653	rs886039222	2:203417494-203417494	2:202552771-202552771
36	BMPR2	NM_001204.7(BMPR2):c.172_173AT[3] (p.Leu59fs)	Microsatellite	Pathogenic	264655	rs886039223	2:203329626-203329627	2:202464903-202464904
37	KCNK3	NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)	SNV	Pathogenic	60479	rs398123039	2:26950859-26950859	2:26727991-26727991
38	BMPR2	NM_001204.7(BMPR2):c.1277-10_1277-9insGGG	Insertion	Pathogenic	264651	rs886039220	2:203407024-203407025	2:202542301-202542302
39	CAV1	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	Deletion	Pathogenic	208669	rs797044871	7:116199282-116199283	7:116559228-116559229
40	BMPR2	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	SNV	Pathogenic	222513	rs869025366	2:203378462-203378462	2:202513739-202513739
41	BMPR2	NM_001204.7(BMPR2):c.247+2del	Deletion	Pathogenic	425732	rs1085307190	2:203329704-203329704	2:202464981-202464981
42	BMPR2	NM_001204.6(BMPR2):c.1277-289_1413+4737del	Deletion	Pathogenic	425915		2:203406745-203411907	2:202542022-202547184
43	BMPR2	NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro)	SNV	Pathogenic	425845	rs1085307275	2:203384894-203384894	2:202520171-202520171
44	BMPR2	NM_001204.6(BMPR2):c.622-?_852+?del	Deletion	Pathogenic	425808
45	BMPR2	NM_001204.7(BMPR2):c.2519_2520CA[3] (p.Arg842fs)	Microsatellite	Pathogenic	425993	rs1085307392	2:203420905-203420906	2:202556182-202556183
46	BMPR2	NM_001204.7(BMPR2):c.992A>G (p.His331Arg)	SNV	Pathogenic	425860	rs1085307285	2:203395541-203395541	2:202530818-202530818
47	BMPR2	NM_001204.7(BMPR2):c.2286del (p.Asn764fs)	Deletion	Pathogenic	425976	rs1085307376	2:203420673-203420673	2:202555950-202555950
48	BMPR2	NM_001204.7(BMPR2):c.77-35_86del	Deletion	Pathogenic	425691	rs1085307158	2:203329496-203329540	2:202464773-202464817
49	BMPR2	NM_001204.7(BMPR2):c.2503_2506del (p.Thr835fs)	Deletion	Pathogenic	425990	rs1085307389	2:203420888-203420891	2:202556165-202556168
50	BMPR2	NM_001204.7(BMPR2):c.2009del (p.Pro670fs)	Deletion	Pathogenic	425973	rs1085307373	2:203420395-203420395	2:202555672-202555672

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Expression for Idiopathic/heritable Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Idiopathic/heritable Pulmonary Arterial Hypertension.

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Pathways for Idiopathic/heritable Pulmonary Arterial Hypertension

Pathways related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	nNOS Signaling in Skeletal Muscle ⁶³ Show member pathways BMP Pathway ⁶³ Calpain Protease Regulates Cellular Mechanics ⁶³ Caspase Cascade ⁶³ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁵ DREAM Repression and Dynorphin Expression ⁶³ TOB in Osteoblast Signaling ⁶³	12.18	SMAD9 BMPR2 ACVRL1
2	Wnt / Hedgehog / Notch ⁴	11.69	SMAD9 ENG BMPR2
3	Signaling by BMP ⁶⁵ Show member pathways BMP receptor signaling ¹ Bone Morphogenic Protein (BMP) Signalling and Regulation ¹	11.29	SMAD9 BMPR2
4	TGF-beta Receptor Signaling (WikiPathways) ¹	11.13	SMAD9 ENG
5	TGF-beta Signaling Pathways ⁶⁴	11.11	SMAD9 ENG ACVRL1
6	Cardiomyocyte Differentiation through BMP Receptors ⁶³	10.66	SMAD9 BMPR2
7	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	10.36	SMAD9 CAV1 BMPR2 ACVRL1
8	ALK2 signaling events ¹	10.2	SMAD9 BMPR2

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GO Terms for Idiopathic/heritable Pulmonary Arterial Hypertension

Cellular components related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	caveola	GO:0005901	8.96	CAV1 BMPR2
2	receptor complex	GO:0043235	8.8	ENG BMPR2 ACVRL1

Biological processes related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 32)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	9.96	FOXF1 ENG BMPR2 ACVRL1
2	angiogenesis	GO:0001525	9.79	ENG CAV1 ACVRL1
3	heart development	GO:0007507	9.79	FOXF1 ENG ACVRL1
4	response to hypoxia	GO:0001666	9.77	ENG CAV1 ACVRL1
5	transforming growth factor beta receptor signaling pathway	GO:0007179	9.7	SMAD9 ENG ACVRL1
6	cellular response to starvation	GO:0009267	9.65	CAV1 BMPR2
7	positive regulation of endothelial cell proliferation	GO:0001938	9.65	BMPR2 ACVRL1
8	cellular response to growth factor stimulus	GO:0071363	9.64	BMPR2 ACVRL1
9	cellular response to transforming growth factor beta stimulus	GO:0071560	9.64	CAV1 ACVRL1
10	blood vessel development	GO:0001568	9.63	FOXF1 BMPR2
11	lung alveolus development	GO:0048286	9.63	FOXF1 BMPR2
12	blood vessel remodeling	GO:0001974	9.62	BMPR2 ACVRL1
13	outflow tract septum morphogenesis	GO:0003148	9.61	ENG BMPR2
14	vasculogenesis	GO:0001570	9.61	FOXF1 ENG CAV1
15	activin receptor signaling pathway	GO:0032924	9.59	BMPR2 ACVRL1
16	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.58	BMPR2 ACVRL1
17	endocardial cushion morphogenesis	GO:0003203	9.58	ENG ACVRL1
18	negative regulation of nitric-oxide synthase activity	GO:0051001	9.57	ENG CAV1
19	negative regulation of DNA biosynthetic process	GO:2000279	9.56	BMPR2 ACVRL1
20	lymphangiogenesis	GO:0001946	9.55	BMPR2 ACVRL1
21	endocardial cushion development	GO:0003197	9.54	FOXF1 BMPR2
22	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.54	ENG BMPR2 ACVRL1
23	artery development	GO:0060840	9.51	BMPR2 ACVRL1
24	negative regulation of endothelial cell proliferation	GO:0001937	9.5	ENG CAV1 ACVRL1
25	retina vasculature development in camera-type eye	GO:0061298	9.49	BMPR2 ACVRL1
26	dorsal aorta morphogenesis	GO:0035912	9.48	ENG ACVRL1
27	lymphatic endothelial cell differentiation	GO:0060836	9.46	BMPR2 ACVRL1
28	cellular response to BMP stimulus	GO:0071773	9.43	SMAD9 BMPR2 ACVRL1
29	endocardial cushion to mesenchymal transition	GO:0090500	9.4	ENG ACVRL1
30	positive regulation of BMP signaling pathway	GO:0030513	9.33	ENG BMPR2 ACVRL1
31	BMP signaling pathway	GO:0030509	9.26	SMAD9 ENG BMPR2 ACVRL1
32	venous blood vessel development	GO:0060841	8.8	FOXF1 BMPR2 ACVRL1

Molecular functions related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta binding	GO:0050431	9.37	ENG ACVRL1
2	activin binding	GO:0048185	9.32	ENG ACVRL1
3	BMP binding	GO:0036122	9.26	ENG BMPR2
4	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.16	BMPR2 ACVRL1
5	BMP receptor activity	GO:0098821	8.96	BMPR2 ACVRL1
6	transforming growth factor beta-activated receptor activity	GO:0005024	8.8	ENG BMPR2 ACVRL1

Sources

Sources for Idiopathic/heritable Pulmonary Arterial Hypertension

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Idiopathic/heritable Pulmonary Arterial Hypertension

Aliases & Classifications for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Idiopathic/heritable Pulmonary Arterial Hypertension:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Idiopathic/heritable Pulmonary Arterial Hypertension

Related Diseases for Idiopathic/heritable Pulmonary Arterial Hypertension

Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension:

Symptoms & Phenotypes for Idiopathic/heritable Pulmonary Arterial Hypertension

Human phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

MGI Mouse Phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

Drugs & Therapeutics for Idiopathic/heritable Pulmonary Arterial Hypertension

Genetic Tests for Idiopathic/heritable Pulmonary Arterial Hypertension

Anatomical Context for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Idiopathic/heritable Pulmonary Arterial Hypertension:

Publications for Idiopathic/heritable Pulmonary Arterial Hypertension

Articles related to Idiopathic/heritable Pulmonary Arterial Hypertension:

Genes for Idiopathic/heritable Pulmonary Arterial Hypertension

Genes related to Idiopathic/heritable Pulmonary Arterial Hypertension (8 elite genes):

Variations for Idiopathic/heritable Pulmonary Arterial Hypertension

ClinVar genetic disease variations for Idiopathic/heritable Pulmonary Arterial Hypertension:

Expression for Idiopathic/heritable Pulmonary Arterial Hypertension

Pathways for Idiopathic/heritable Pulmonary Arterial Hypertension

Pathways related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

GO Terms for Idiopathic/heritable Pulmonary Arterial Hypertension

Cellular components related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

Biological processes related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

Molecular functions related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

Sources for Idiopathic/heritable Pulmonary Arterial Hypertension