MCID: PLM184
MIFTS: 42

Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards integrated aliases for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

Name: Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 58 6 17
Pah Associated with Congenital Heart Disease 58

Characteristics:

Orphanet epidemiological data:

58
pulmonary arterial hypertension associated with congenital heart disease
Inheritance: Not applicable; Prevalence: 1-9/1000000 (France),<1/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Spain),1-9/1000000 (Czech Republic),1-9/100000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 33 I27.2
Orphanet 58 ORPHA275803

Summaries for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards based summary : Pulmonary Arterial Hypertension Associated with Congenital Heart Disease, also known as pah associated with congenital heart disease, is related to pulmonary hypertension, primary, 1 and atrial heart septal defect. An important gene associated with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Human Embryonic Stem Cell Pluripotency. The drugs Carvedilol and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and smooth muscle, and related phenotypes are Increased cell viability after pRB stimulation and cardiovascular system

Related Diseases for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.5 ENG BMPR2
2 atrial heart septal defect 29.5 SMAD9 CRP BMPR2 BMPR1A
3 heart disease 28.1 TBX4 SMAD9 ENG CRP CCN2 CAV1
4 pulmonary hypertension 28.1 TBX4 SMAD9 ENG CRP CAV1 BMPR2
5 eisenmenger syndrome 10.6
6 down syndrome 10.5
7 vascular disease 10.4
8 patent ductus arteriosus 1 10.3
9 ventricular septal defect 10.3
10 heart septal defect 10.2
11 chromosome 10q23 deletion syndrome 10.2 BMPR1B BMPR1A
12 brachydactyly, type a1 10.2 BMPR1B BMPR1A
13 brachydactyly, type a1, b 10.2 BMPR1B BMPR1A
14 chronic thromboembolic pulmonary hypertension 10.1 CRP BMPR2
15 cardiac conduction defect 10.1
16 dextro-looped transposition of the great arteries 10.1
17 portal hypertension 10.1
18 respiratory failure 10.1
19 hemopericardium 10.1
20 pericardial effusion 10.1
21 iron metabolism disease 10.1
22 liver cirrhosis 10.1
23 chromosomal triplication 10.1
24 pulmonary arterial hypertension associated with portal hypertension 10.1
25 tracheal disease 10.1 TBX4 CRP
26 large intestine lipoma 10.0 CRP BMPR1A
27 tricuspid valve insufficiency 10.0 CRP BMPR2
28 lipoma of colon 10.0 CRP BMPR1A
29 tricuspid valve disease 10.0 CRP BMPR2
30 late congenital syphilis 10.0 ENG CRP
31 capillary lymphangioma 10.0 ENG CRP
32 brachydactyly, type a2 10.0 BMPR2 BMPR1B BMPR1A
33 hepatopulmonary syndrome 10.0 ENG BMPR2
34 early congenital syphilis 9.9 ENG CRP
35 proximal symphalangism 9.9 TBX4 BMPR1B BMPR1A
36 juvenile polyposis syndrome 9.9 SMAD9 BMPR1B BMPR1A
37 pulmonary arteriovenous malformation 9.9 LOC102723566 ENG
38 hepatic vascular disease 9.9 CRP BMPR2
39 ischemic bone disease 9.8 ENG CRP
40 diffuse cutaneous systemic sclerosis 9.8 CCN2 CAV1
41 multiple synostoses syndrome 9.7 TBX4 BMPR2 BMPR1B BMPR1A
42 pulmonary venoocclusive disease 9.7 TBX4 SMAD9 CAV1 BMPR2
43 cholecystolithiasis 9.7 CRP CCN2
44 nerve compression syndrome 9.7 CRP CCN2
45 telangiectasis 9.6 ENG BMPR2
46 trachoma 9.6 ENG CCN2
47 chronic pulmonary heart disease 9.6 SMAD9 ENG BMPR2 BMPR1B
48 ureteral disease 9.5 CRP CCN2
49 limited scleroderma 9.2 CRP CCN2 CAV1 BMPR2
50 pulmonary fibrosis, idiopathic 9.0 CRP CCN2 CAV1

Graphical network of the top 20 diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:



Diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Symptoms & Phenotypes for Pulmonary Arterial Hypertension Associated with Congenital Heart...

GenomeRNAi Phenotypes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell viability after pRB stimulation GR00230-A-1 8.8 BMPR1A BMPR1B BMPR2

MGI Mouse Phenotypes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 BMPR1A BMPR2 CAV1 CCN2 CRP ENG
2 growth/size/body region MP:0005378 10.03 BMPR1A BMPR1B BMPR2 CAV1 CCN2 ENG
3 embryo MP:0005380 10 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
4 mortality/aging MP:0010768 9.97 BMPR1A BMPR1B BMPR2 CAV1 CCN2 ENG
5 craniofacial MP:0005382 9.88 BMPR1A BMPR1B CCN2 ENG SMAD9
6 limbs/digits/tail MP:0005371 9.8 BMPR1A BMPR1B CCN2 SMAD9 TBX4
7 nervous system MP:0003631 9.8 BMPR1A BMPR1B BMPR2 CAV1 ENG SMAD9
8 muscle MP:0005369 9.72 BMPR1A BMPR2 CAV1 ENG SMAD9
9 normal MP:0002873 9.7 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
10 respiratory system MP:0005388 9.43 BMPR1A BMPR2 CAV1 CCN2 ENG SMAD9
11 skeleton MP:0005390 9.17 BMPR1A BMPR1B BMPR2 CAV1 CCN2 SMAD9

Drugs & Therapeutics for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Drugs for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
2
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
3
Captopril Approved Phase 1 62571-86-2 44093
4
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
5 Adrenergic alpha-Antagonists Phase 1
6
protease inhibitors Phase 1
7 Neurotransmitter Agents Phase 1
8 Adrenergic Antagonists Phase 1
9 Mineralocorticoids Phase 1
10 Antihypertensive Agents Phase 1
11 Hormone Antagonists Phase 1
12 Adrenergic beta-Antagonists Phase 1
13 Mineralocorticoid Receptor Antagonists Phase 1
14 Antioxidants Phase 1
15 Calcium, Dietary Phase 1
16 calcium channel blockers Phase 1
17 Hormones Phase 1
18 HIV Protease Inhibitors Phase 1
19 Natriuretic Agents Phase 1
20 Protective Agents Phase 1
21 Angiotensin-Converting Enzyme Inhibitors Phase 1
22 Diuretics, Potassium Sparing Phase 1
23 Vasodilator Agents Phase 1
24 diuretics Phase 1
25 Adrenergic Agents Phase 1
26
Macitentan Approved 441798-33-0
27
Iloprost Approved, Investigational 78919-13-8 6443959
28
Epoprostenol Approved 61849-14-7, 35121-78-9 5280427 5282411
29
Selexipag Approved 475086-01-2
30
Riociguat Approved 625115-55-1
31
Treprostinil Approved, Investigational 81846-19-7 54786 6918140
32
Ambrisentan Approved, Investigational 177036-94-1 6918493
33
Bosentan Approved, Investigational 147536-97-8 104865
34 Platelet Aggregation Inhibitors
35 Endothelin Receptor Antagonists
36 Imatinib Mesylate 220127-57-1 123596
37 Sildenafil Citrate 171599-83-0
38 Phosphodiesterase 5 Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Official Title: Spironolactone Combined With Captopril and Carvedilol for the Treatment of Patients With Pulmonary Arterial Hypertension Associated With Congenital Heart Disease—Focus on Pulmonary Artery Remodeling Completed NCT00240656 Phase 1 spironolactone captopril carvedilol
2 The Screening and Analysis of Plasma Biomarkers in Irreversible Pulmonary Arterial Hypertension Associated With Congenital Heart Disease Completed NCT02267200
3 The Prevalence of BMPR-2 Gene Mutations in Korean Patients With Pulmonary Arterial Hypertension (PAH) and the Effects of Gene Mutations on Hemodynamic Response by Drug Therapy Completed NCT01054105 Iloprost
4 Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension Recruiting NCT01347216

Search NIH Clinical Center for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Genetic Tests for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Anatomical Context for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards organs/tissues related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

40
Heart, Testes, Smooth Muscle, Endothelial, Bone, Colon, Liver

Publications for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Articles related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. 61
31917901 2020
2
Pulmonary arterial hypertension populations of special interest: portopulmonary hypertension and pulmonary arterial hypertension associated with congenital heart disease. 61
31857799 2019
3
2018 TSOC guideline focused update on diagnosis and treatment of pulmonary arterial hypertension. 61
30926248 2019
4
Eisenmenger Syndrome: A Multisystem Disorder-Do Not Destabilize the Balanced but Fragile Physiology. 61
31813503 2019
5
Guideline implementation and early risk assessment in pulmonary arterial hypertension associated with congenital heart disease: A retrospective cohort study. 61
31419027 2019
6
Peripartum outcomes in a large population of women with pulmonary arterial hypertension associated with congenital heart disease. 61
30971116 2019
7
Phosphodiesterase type 5 inhibitors improve microvascular dysfunction markers in pulmonary arterial hypertension associated with congenital heart disease. 61
30343508 2019
8
Pulmonary arterial hypertension in Russia: six-year observation analysis of the National Registry. 61
31090367 2019
9
Selexipag treatment for pulmonary arterial hypertension associated with congenital heart disease after defect correction: insights from the randomised controlled GRIPHON study. 61
30632656 2019
10
Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease. 61
30520544 2019
11
Iron deficiency in pulmonary arterial hypertension associated with congenital heart disease. 61
30632395 2018
12
Management dilemmas in pulmonary arterial hypertension associated with congenital heart disease. 61
30033821 2018
13
MiR-23a regulates the proliferation and migration of human pulmonary artery smooth muscle cells (HPASMCs) through targeting BMPR2/Smad1 signaling. 61
29864909 2018
14
Acute and chronic dissection of pulmonary artery: new challenges in pulmonary arterial hypertension? 61
29251549 2018
15
Acute Effect of Inhaled Iloprost in Children with Pulmonary Arterial Hypertension Associated with Simple Congenital Heart Defects. 61
29426959 2018
16
Characteristics of Pulmonary Vascular Remodeling in a Novel Model of Shunt-Associated Pulmonary Arterial Hypertension. 61
29554080 2018
17
The efficiency of endothelin receptor antagonist bosentan for pulmonary arterial hypertension associated with congenital heart disease: A systematic review and meta-analysis. 61
29517668 2018
18
Acute Iloprost Inhalation Improves Right Ventricle Function in Pulmonary Artery Hypertension: A Cardiac Magnetic Resonance Study. 61
30719004 2018
19
Contemporary survival of patients with pulmonary arterial hypertension and congenital systemic to pulmonary shunts. 61
29664959 2018
20
Plasma Growth Differentiation Factor-15 is a Potential Biomarker for Pediatric Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
28819713 2017
21
[Long-term outcome and prognostic factors in pregnant women with pulmonary arterial hypertension associated with congenital heart disease]. 61
29136712 2017
22
Preliminary results from a nationwide adult cardiology perspective for pulmonary hypertension: RegiStry on clInical outcoMe and sUrvival in pulmonaRy hypertension Groups (SIMURG). 61
29076824 2017
23
Semi-quantitative assessment of pulmonary arterial hypertension associated with congenital heart disease through myocardial perfusion imaging. 61
29177254 2017
24
Pulmonary arterial hypertension in congenital heart disease: translational opportunities to study the reversibility of pulmonary vascular disease. 61
28369399 2017
25
The Changing Landscape of Pulmonary Arterial Hypertension in the Adult with Congenital Heart Disease. 61
28358329 2017
26
Pregnancy outcomes in patients with pulmonary arterial hypertension associated with congenital heart disease. 61
27511447 2017
27
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. 61
28348949 2017
28
Plasma Proteomic Study in Pulmonary Arterial Hypertension Associated with Congenital Heart Diseases. 61
27886187 2016
29
Genetic analyses in a cohort of children with pulmonary hypertension. 61
27587546 2016
30
Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease. 61
27683607 2016
31
Cost-utility and budget impact analysis of drug treatments in pulmonary arterial hypertension associated with congenital heart diseases in Thailand. 61
26566873 2016
32
Hemodynamic assessment and acute pulmonary vasoreactivity testing in the evaluation of children with pulmonary vascular disease. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. 61
27053694 2016
33
Pulmonary hypertension in children with congenital heart disease (PAH-CHD, PPHVD-CHD). Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. 61
27053697 2016
34
Pulmonary arterial hypertension associated with congenital heart disease: Comparison of clinical and anatomic-pathophysiologic classification. 61
26880324 2016
35
Growth in children with pulmonary arterial hypertension: a longitudinal retrospective multiregistry study. 61
26994897 2016
36
Elevated Plasma Connective Tissue Growth Factor Levels in Children with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
26714814 2016
37
MicroRNA-223 Attenuates Hypoxia-induced Vascular Remodeling by Targeting RhoB/MLC2 in Pulmonary Arterial Smooth Muscle Cells. 61
27121304 2016
38
Acute Vasodilator Response in Pediatric Pulmonary Arterial Hypertension: Current Clinical Practice From the TOPP Registry. 61
26988953 2016
39
Effect of dual pulmonary vasodilator therapy in pulmonary arterial hypertension associated with congenital heart disease: a retrospective analysis. 61
27099763 2016
40
Insight into Pulmonary Arterial Hypertension Associated with Congenital Heart Disease (PAH-CHD): Classification and Pharmacological Management from a Pediatric Cardiological Point of View. 61
27122915 2015
41
The Challenges in Managing Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
27122916 2015
42
Riociguat for pulmonary arterial hypertension associated with congenital heart disease. 61
26135803 2015
43
An improved method for detecting circulating microRNAs with S-Poly(T) Plus real-time PCR. 61
26459910 2015
44
Stepwise Approach Using Combined Management in Patients with Congenital Heart Disease and Borderline Pulmonary Vascular Disease. 61
26413109 2015
45
Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights. 61
26022952 2015
46
Survival in an incident cohort of patients with pulmonary arterial hypertension in Denmark. 61
26064463 2015
47
Pulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatrics. 61
25604592 2015
48
Cardiac catheterization in children with pulmonary hypertensive vascular disease. 61
25577228 2015
49
[Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome]. 61
25650280 2015
50
Pulmonary arterial hypertension associated with congenital heart disease. Personal perspectives. 61
25787791 2015

Variations for Pulmonary Arterial Hypertension Associated with Congenital Heart...

ClinVar genetic disease variations for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)SNV Pathogenic 425706 rs1085307167 2:203329580-203329580 2:202464857-202464857
2 BMPR2 NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp)SNV Pathogenic 425707 rs1085307168 2:203329595-203329595 2:202464872-202464872
3 BMPR2 NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala)SNV Pathogenic 425756 rs1085307206 2:203332298-203332298 2:202467575-202467575
4 BMPR2 NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro)SNV Pathogenic 425757 rs1085307207 2:203332313-203332313 2:202467590-202467590
5 BMPR2 NM_001204.7(BMPR2):c.556A>G (p.Met186Val)SNV Pathogenic 425805 rs1085307244 2:203379637-203379637 2:202514914-202514914
6 BMPR2 NM_001204.7(BMPR2):c.1276+1G>ASNV Likely pathogenic 425911 rs767070218 2:203397456-203397456 2:202532733-202532733
7 BMPR2 NM_001204.7(BMPR2):c.529+1G>ASNV Likely pathogenic 548686 rs1553508187 2:203378553-203378553 2:202513830-202513830
8 SMAD9 NM_001127217.2(SMAD9):c.204C>A (p.Cys68Ter)SNV Likely pathogenic 548690 rs146583835 13:37453623-37453623 13:36879486-36879486
9 TBX4 NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg)SNV Likely pathogenic 548692 rs1555882009 17:59543191-59543191 17:61465830-61465830
10 TBX4 NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)deletion Likely pathogenic 548695 rs1555882291 17:59545006-59545015 17:61467645-61467654
11 TBX4 NM_001321120.2(TBX4):c.670_672del (p.Phe224del)deletion Likely pathogenic 548697 rs1555883338 17:59556107-59556109 17:61478746-61478748
12 BMPR2 NC_000002.11:g.203397450_203407034del9585insAGAindel Likely pathogenic 548926 2:203397450-203407034 2:202532727-202542311
13 ENG NM_000118.3(ENG):c.1633G>A (p.Gly545Ser)SNV Conflicting interpretations of pathogenicity 237022 rs142896669 9:130580452-130580452 9:127818173-127818173
14 TBX4 NM_001321120.2(TBX4):c.702+1G>ASNV Conflicting interpretations of pathogenicity 547941 rs1555883342 17:59556141-59556141 17:61478780-61478780
15 BMPR2 NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys)SNV Uncertain significance 548688 rs1553503208 2:203329666-203329666 2:202464943-202464943
16 BMPR2 NM_001204.7(BMPR2):c.419-38deldeletion Uncertain significance 548685 rs10714063 2:203378399-203378399 2:202513676-202513676
17 TBX4 NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)SNV Uncertain significance 548696 rs1555883469 17:59557288-59557288 17:61479927-61479927
18 TBX4 NM_001321120.2(TBX4):c.1077del (p.Ser360fs)deletion Uncertain significance 548693 rs1555883805 17:59560309-59560309 17:61482948-61482948
19 TBX4 NM_001321120.2(TBX4):c.1115del (p.Pro372fs)deletion Uncertain significance 548694 rs754897911 17:59560345-59560345 17:61482984-61482984
20 BMPR2 NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)SNV Uncertain significance 548687 rs773135384 2:203420741-203420741 2:202556018-202556018
21 BMPR1B NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro)SNV Uncertain significance 548684 rs141691706 4:96046234-96046234 4:95125083-95125083
22 CAV1 NM_001753.5(CAV1):c.238A>G (p.Ser80Gly)SNV Uncertain significance 548689 rs369884333 7:116199042-116199042 7:116558988-116558988
23 SMAD9 NM_005905.6(SMAD9):c.1045A>G (p.Asn349Asp)SNV Uncertain significance 548691 rs142213379 13:37427660-37427660 13:36853523-36853523
24 BMPR1A NM_004329.2(BMPR1A):c.1498A>G (p.Met500Val)SNV Uncertain significance 301353 rs376651641 10:88683375-88683375 10:86923618-86923618
25 BMPR2 NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)SNV Uncertain significance 409828 rs1060502583 2:203417534-203417534 2:202552811-202552811

Expression for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Search GEO for disease gene expression data for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease.

Pathways for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Pathways related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 SMAD9 BMPR2 BMPR1B BMPR1A
2
Show member pathways
12.2 SMAD9 BMPR2 BMPR1B BMPR1A
3 11.99 SMAD9 ENG CCN2 BMPR2
4 11.89 CCN2 BMPR2 BMPR1B BMPR1A
5 11.82 SMAD9 BMPR2 BMPR1B BMPR1A
6 11.77 CAV1 BMPR2 BMPR1B BMPR1A
7 11.43 SMAD9 BMPR2 BMPR1B BMPR1A
8 11.24 CCN2 CAV1
9 11.19 BMPR2 BMPR1A
10
Show member pathways
11.11 SMAD9 BMPR2 BMPR1B BMPR1A
11 10.91 ENG CCN2
12
Show member pathways
10.86 SMAD9 CAV1 BMPR2
13 10.52 SMAD9 BMPR2
14 10.27 SMAD9 BMPR2 BMPR1B BMPR1A

GO Terms for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Cellular components related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 9.16 BMPR1B BMPR1A
2 caveola GO:0005901 9.13 CAV1 BMPR2 BMPR1A
3 receptor complex GO:0043235 8.92 ENG BMPR2 BMPR1B BMPR1A

Biological processes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 TBX4 ENG BMPR2 BMPR1B BMPR1A
2 positive regulation of gene expression GO:0010628 9.91 ENG CRP CCN2 CAV1
3 angiogenesis GO:0001525 9.83 TBX4 ENG CCN2 CAV1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.76 SMAD9 BMPR2 BMPR1A
5 lung development GO:0030324 9.75 TBX4 CCN2 BMPR1A
6 cellular response to growth factor stimulus GO:0071363 9.71 BMPR2 BMPR1B BMPR1A
7 positive regulation of osteoblast differentiation GO:0045669 9.69 BMPR2 BMPR1B BMPR1A
8 positive regulation of cell differentiation GO:0045597 9.66 CCN2 BMPR1B
9 dorsal/ventral pattern formation GO:0009953 9.66 BMPR1B BMPR1A
10 chondrocyte differentiation GO:0002062 9.65 BMPR1B BMPR1A
11 mesoderm formation GO:0001707 9.65 BMPR2 BMPR1A
12 positive regulation of BMP signaling pathway GO:0030513 9.65 ENG BMPR2
13 positive regulation of collagen biosynthetic process GO:0032967 9.64 ENG CCN2
14 limb morphogenesis GO:0035108 9.64 TBX4 BMPR1B
15 chondrocyte development GO:0002063 9.63 BMPR2 BMPR1B
16 cartilage condensation GO:0001502 9.62 CCN2 BMPR1B
17 proteoglycan biosynthetic process GO:0030166 9.62 BMPR2 BMPR1B
18 endocardial cushion morphogenesis GO:0003203 9.61 ENG BMPR1A
19 positive regulation of cartilage development GO:0061036 9.6 BMPR2 BMPR1B
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.59 ENG BMPR1A
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.58 ENG BMPR2 BMPR1A
22 pharyngeal arch artery morphogenesis GO:0061626 9.57 BMPR2 BMPR1A
23 dorsal aorta morphogenesis GO:0035912 9.56 ENG BMPR1A
24 mitral valve morphogenesis GO:0003183 9.55 BMPR2 BMPR1A
25 positive regulation of bone mineralization GO:0030501 9.54 BMPR2 BMPR1B BMPR1A
26 negative regulation of chondrocyte proliferation GO:1902731 9.49 BMPR2 BMPR1B
27 extracellular matrix constituent secretion GO:0070278 9.48 ENG CCN2
28 endochondral bone morphogenesis GO:0060350 9.46 BMPR2 BMPR1B
29 tricuspid valve morphogenesis GO:0003186 9.43 BMPR2 BMPR1A
30 outflow tract septum morphogenesis GO:0003148 9.43 ENG BMPR2 BMPR1A
31 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.33 BMPR2 BMPR1B BMPR1A
32 regulation of cardiac muscle cell apoptotic process GO:0010665 9.32 ENG BMPR1A
33 cellular response to BMP stimulus GO:0071773 9.26 SMAD9 BMPR2 BMPR1B BMPR1A
34 BMP signaling pathway GO:0030509 9.02 SMAD9 ENG BMPR2 BMPR1B BMPR1A

Molecular functions related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.32 BMPR1B BMPR1A
2 BMP binding GO:0036122 9.26 ENG BMPR2
3 BMP receptor activity GO:0098821 9.16 BMPR2 BMPR1A
4 transforming growth factor beta receptor activity, type I GO:0005025 8.96 BMPR1B BMPR1A
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.8 BMPR2 BMPR1B BMPR1A

Sources for Pulmonary Arterial Hypertension Associated with Congenital Heart...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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