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 nNOS Signaling in Skeletal Muscle 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 Decreased 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 55)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.5 ENG BMPR2
2 atrial heart septal defect 29.9 SMAD9 CRP BMPR2
3 heart disease 28.2 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 10.1 BMPR1B BMPR1A
12 brachydactyly, type a1 10.1 BMPR1B BMPR1A
13 chronic thromboembolic pulmonary hypertension 10.1 CRP BMPR2
14 brachydactyly, type a1, b 10.1 BMPR1B BMPR1A
15 pulmonary valve insufficiency 10.1 CRP BMPR2
16 cardiac conduction defect 10.1
17 pulmonary venoocclusive disease 2, autosomal recessive 10.1
18 dextro-looped transposition of the great arteries 10.1
19 portal hypertension 10.1
20 respiratory failure 10.1
21 pulmonary edema 10.1
22 hemopericardium 10.1
23 pericardial effusion 10.1
24 iron metabolism disease 10.1
25 interstitial lung disease 10.1
26 liver cirrhosis 10.1
27 chromosomal triplication 10.1
28 pulmonary arterial hypertension associated with portal hypertension 10.1
29 tracheal disease 10.0 TBX4 CRP
30 tricuspid valve insufficiency 10.0 CRP BMPR2
31 persistent mullerian duct syndrome 10.0 BMPR1B BMPR1A
32 juvenile polyposis syndrome 10.0 SMAD9 BMPR2 BMPR1A
33 tricuspid valve disease 10.0 CRP BMPR2
34 chronic pulmonary heart disease 10.0 SMAD9 BMPR2 BMPR1B
35 bicipital tenosynovitis 10.0 ENG CRP
36 brachydactyly, type a2 10.0 BMPR2 BMPR1B BMPR1A
37 capillary lymphangioma 9.9 ENG CRP
38 late congenital syphilis 9.9 ENG CRP
39 hepatopulmonary syndrome 9.9 ENG BMPR2
40 pulmonary arteriovenous malformation 9.9 LOC102723566 ENG
41 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 9.9 ENG BMPR2 BMPR1A
42 telangiectasis 9.9 ENG BMPR2 BMPR1A
43 hepatic vascular disease 9.9 CRP BMPR2
44 fibrosclerosis of breast 9.7 ENG CCN2
45 diffuse cutaneous systemic sclerosis 9.7 CCN2 CAV1
46 multiple synostoses syndrome 9.7 TBX4 BMPR2 BMPR1B BMPR1A
47 pulmonary venoocclusive disease 9.7 TBX4 SMAD9 CAV1 BMPR2
48 cholecystolithiasis 9.7 CRP CCN2
49 fibrodysplasia ossificans progressiva 9.7 BMPR1B BMPR1A
50 nerve compression syndrome 9.6 CRP CCN2

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 Decreased cell viability after pRB stimulation GR00230-A-1 8.62 BMPR1A 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
2
Spironolactone Approved Phase 1 52-01-7, 1952-01-7 5833
3
Captopril Approved Phase 1 62571-86-2 44093
4 Hormone Antagonists Phase 1
5 Adrenergic alpha-Antagonists Phase 1
6 Hormones Phase 1
7 Mineralocorticoids Phase 1
8 Antihypertensive Agents Phase 1
9 Neurotransmitter Agents Phase 1
10 Adrenergic Agents Phase 1
11 Adrenergic Antagonists Phase 1
12 Antioxidants Phase 1
13 Mineralocorticoid Receptor Antagonists Phase 1
14 Angiotensin-Converting Enzyme Inhibitors Phase 1
15 Adrenergic beta-Antagonists Phase 1
16 HIV Protease Inhibitors Phase 1
17
protease inhibitors Phase 1
18 diuretics Phase 1
19 Vasodilator Agents Phase 1
20 Adrenergic alpha-1 Receptor Antagonists Phase 1
21 Calcium, Dietary Phase 1
22 Diuretics, Potassium Sparing Phase 1
23 calcium channel blockers Phase 1
24 Protective Agents Phase 1
25
Calcium Nutraceutical Phase 1 7440-70-2 271
26
Selexipag Approved 475086-01-2
27
Ambrisentan Approved, Investigational 177036-94-1 6918493
28
Treprostinil Approved, Investigational 81846-19-7 6918140 54786
29
Iloprost Approved, Investigational 78919-13-8 6443959
30
Bosentan Approved, Investigational 147536-97-8 104865
31
Riociguat Approved 625115-55-1
32
Macitentan Approved 441798-33-0
33
Epoprostenol Approved 35121-78-9, 61849-14-7 5282411 5280427
34 Tezosentan Investigational 180384-57-0
35 Platelet Aggregation Inhibitors
36 Phosphodiesterase 5 Inhibitors
37 Endothelin Receptor Antagonists
38 Sildenafil Citrate 171599-83-0
39 Imatinib Mesylate 220127-57-1 123596

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

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 119)
# Title Authors PMID Year
1
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. 61
32502478 2020
2
Children and Adolescents with Pulmonary Arterial Hypertension: Baseline and Follow-Up Data from the Polish Registry of Pulmonary Hypertension (BNP-PL). 61
32503164 2020
3
Assessment of right ventricular function in patients with pulmonary arterial hypertension-congenital heart disease and repaired and unrepaired defects: Correlation among speckle tracking, conventional echocardiography, and clinical parameters. 61
32352408 2020
4
Understanding the current status of patients with pulmonary hypertension during COVID-19 outbreak: a small-scale national survey from China. 61
32523686 2020
5
Pulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease. 61
32285188 2020
6
Angiotensin Converting Enzyme 2 and Angiotensin (1-7) axis in Pulmonary Arterial Hypertension. 61
32241831 2020
7
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. 61
31917901 2020
8
Idiopathic Pulmonary Arterial Hypertension and Pulmonary Arterial Hypertension Associated With Congenital Heart Disease in Chinese Children: Similarities, Differences, and Prognostic Factors. 61
32296664 2020
9
Pulmonary arterial hypertension populations of special interest: portopulmonary hypertension and pulmonary arterial hypertension associated with congenital heart disease. 61
31857799 2019
10
2018 TSOC guideline focused update on diagnosis and treatment of pulmonary arterial hypertension. 61
30926248 2019
11
Eisenmenger Syndrome: A Multisystem Disorder-Do Not Destabilize the Balanced but Fragile Physiology. 61
31813503 2019
12
Guideline implementation and early risk assessment in pulmonary arterial hypertension associated with congenital heart disease: A retrospective cohort study. 61
31419027 2019
13
Peripartum outcomes in a large population of women with pulmonary arterial hypertension associated with congenital heart disease. 61
30971116 2019
14
Phosphodiesterase type 5 inhibitors improve microvascular dysfunction markers in pulmonary arterial hypertension associated with congenital heart disease. 61
30343508 2019
15
Selexipag treatment for pulmonary arterial hypertension associated with congenital heart disease after defect correction: insights from the randomised controlled GRIPHON study. 61
30632656 2019
16
Pulmonary arterial hypertension in Russia: six-year observation analysis of the National Registry. 61
31090367 2019
17
Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease. 61
30520544 2019
18
Iron deficiency in pulmonary arterial hypertension associated with congenital heart disease. 61
30632395 2018
19
Management dilemmas in pulmonary arterial hypertension associated with congenital heart disease. 61
30033821 2018
20
MiR-23a regulates the proliferation and migration of human pulmonary artery smooth muscle cells (HPASMCs) through targeting BMPR2/Smad1 signaling. 61
29864909 2018
21
Acute Effect of Inhaled Iloprost in Children with Pulmonary Arterial Hypertension Associated with Simple Congenital Heart Defects. 61
29426959 2018
22
Acute and chronic dissection of pulmonary artery: new challenges in pulmonary arterial hypertension? 61
29251549 2018
23
Characteristics of Pulmonary Vascular Remodeling in a Novel Model of Shunt-Associated Pulmonary Arterial Hypertension. 61
29554080 2018
24
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
25
Acute Iloprost Inhalation Improves Right Ventricle Function in Pulmonary Artery Hypertension: A Cardiac Magnetic Resonance Study. 61
30719004 2018
26
Contemporary survival of patients with pulmonary arterial hypertension and congenital systemic to pulmonary shunts. 61
29664959 2018
27
Plasma Growth Differentiation Factor-15 is a Potential Biomarker for Pediatric Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
28819713 2017
28
[Long-term outcome and prognostic factors in pregnant women with pulmonary arterial hypertension associated with congenital heart disease]. 61
29136712 2017
29
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
30
Semi-quantitative assessment of pulmonary arterial hypertension associated with congenital heart disease through myocardial perfusion imaging. 61
29177254 2017
31
Pulmonary arterial hypertension in congenital heart disease: translational opportunities to study the reversibility of pulmonary vascular disease. 61
28369399 2017
32
The Changing Landscape of Pulmonary Arterial Hypertension in the Adult with Congenital Heart Disease. 61
28358329 2017
33
Pregnancy outcomes in patients with pulmonary arterial hypertension associated with congenital heart disease. 61
27511447 2017
34
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. 61
28348949 2017
35
Plasma Proteomic Study in Pulmonary Arterial Hypertension Associated with Congenital Heart Diseases. 61
27886187 2016
36
Genetic analyses in a cohort of children with pulmonary hypertension. 61
27587546 2016
37
Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease. 61
27683607 2016
38
Cost-utility and budget impact analysis of drug treatments in pulmonary arterial hypertension associated with congenital heart diseases in Thailand. 61
26566873 2016
39
Pulmonary arterial hypertension associated with congenital heart disease: Comparison of clinical and anatomic-pathophysiologic classification. 61
26880324 2016
40
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
41
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
42
MicroRNA-223 Attenuates Hypoxia-induced Vascular Remodeling by Targeting RhoB/MLC2 in Pulmonary Arterial Smooth Muscle Cells. 61
27121304 2016
43
Growth in children with pulmonary arterial hypertension: a longitudinal retrospective multiregistry study. 61
26994897 2016
44
Elevated Plasma Connective Tissue Growth Factor Levels in Children with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
26714814 2016
45
Acute Vasodilator Response in Pediatric Pulmonary Arterial Hypertension: Current Clinical Practice From the TOPP Registry. 61
26988953 2016
46
Effect of dual pulmonary vasodilator therapy in pulmonary arterial hypertension associated with congenital heart disease: a retrospective analysis. 61
27099763 2016
47
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
48
The Challenges in Managing Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
27122916 2015
49
Riociguat for pulmonary arterial hypertension associated with congenital heart disease. 61
26135803 2015
50
An improved method for detecting circulating microRNAs with S-Poly(T) Plus real-time PCR. 61
26459910 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_001114753.3(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 11.9 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 9.92 ENG CRP CCN2 CAV1
3 angiogenesis GO:0001525 9.84 TBX4 ENG CCN2 CAV1
4 lung development GO:0030324 9.76 TBX4 CCN2 BMPR1A
5 cellular response to growth factor stimulus GO:0071363 9.72 BMPR2 BMPR1B BMPR1A
6 positive regulation of osteoblast differentiation GO:0045669 9.7 BMPR2 BMPR1B BMPR1A
7 positive regulation of cell differentiation GO:0045597 9.66 CCN2 BMPR1B
8 chondrocyte differentiation GO:0002062 9.66 BMPR1B BMPR1A
9 dorsal/ventral pattern formation GO:0009953 9.65 BMPR1B BMPR1A
10 mesoderm formation GO:0001707 9.65 BMPR2 BMPR1A
11 positive regulation of BMP signaling pathway GO:0030513 9.65 ENG BMPR2
12 limb morphogenesis GO:0035108 9.64 TBX4 BMPR1B
13 positive regulation of collagen biosynthetic process GO:0032967 9.64 ENG CCN2
14 cartilage condensation GO:0001502 9.63 CCN2 BMPR1B
15 chondrocyte development GO:0002063 9.62 BMPR2 BMPR1B
16 proteoglycan biosynthetic process GO:0030166 9.61 BMPR2 BMPR1B
17 endocardial cushion morphogenesis GO:0003203 9.61 ENG BMPR1A
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.61 ENG BMPR2 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 pharyngeal arch artery morphogenesis GO:0061626 9.58 BMPR2 BMPR1A
22 positive regulation of bone mineralization GO:0030501 9.58 BMPR2 BMPR1B BMPR1A
23 dorsal aorta morphogenesis GO:0035912 9.57 ENG BMPR1A
24 mitral valve morphogenesis GO:0003183 9.56 BMPR2 BMPR1A
25 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 SMAD9 ENG BMPR2 BMPR1A
26 negative regulation of chondrocyte proliferation GO:1902731 9.51 BMPR2 BMPR1B
27 outflow tract septum morphogenesis GO:0003148 9.5 ENG BMPR2 BMPR1A
28 extracellular matrix constituent secretion GO:0070278 9.49 ENG CCN2
29 endochondral bone morphogenesis GO:0060350 9.48 BMPR2 BMPR1B
30 tricuspid valve morphogenesis GO:0003186 9.46 BMPR2 BMPR1A
31 regulation of cardiac muscle cell apoptotic process GO:0010665 9.37 ENG BMPR1A
32 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.33 BMPR2 BMPR1B 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 9.37 BMPR1B BMPR1A
2 BMP binding GO:0036122 9.32 ENG BMPR2
3 transforming growth factor beta-activated receptor activity GO:0005024 9.26 ENG BMPR2
4 BMP receptor activity GO:0098821 9.16 BMPR2 BMPR1A
5 transforming growth factor beta receptor activity, type I GO:0005025 8.96 BMPR1B BMPR1A
6 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
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45 MGI
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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