MCID: PLM122
MIFTS: 52

Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

MalaCards integrated aliases for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

Name: Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 54
Pulmonary Arterial Hypertension 50 25 29 69
Idiopathic Pulmonary Arterial Hypertension 50 56 69
Idiopathic Pulmonary Hypertension 50 25 69
Familial Primary Pulmonary Hypertension 25 69
Sporadic Primary Pulmonary Hypertension 25 69
Primary Pulmonary Hypertension 50 25
Pah 50 25
Pph 50 25
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 54
Hereditary Pulmonary Arterial Hypertension 50
Heritable Pulmonary Arterial Hypertension 50
Familial Pulmonary Arterial Hypertension 50
Pulmonary Hypertension, Familial Primary 13
Primary Pulmonary Arterial Hypertension 56
Pulmonary Hypertension, Primary, 1 71
Ayerza's Syndrome 69
Ayerza Syndrome 25
Fpah 50
Fpph 25
Ppht 25
Ipah 56
Pph1 71

Characteristics:

Orphanet epidemiological data:

56
idiopathic pulmonary arterial hypertension
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Spain),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United Kingdom),1-9/1000000 (United States),1-9/1000000 (Belgium),1-9/1000000 (Israel),1-9/100000 (Europe); Age of onset: All ages; Age of death: adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
usually presents in third to fourth decade (but onset can range from childhood to elderly)
female to male ratio ranges from 2:1 to 4:1
prevalence in the finnish population of 5.8 per million
incidence in the finnish population of 0.2-1.3 cases per million per year


HPO:

32
pulmonary hypertension, familial primary, 1, with or without hht:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare respiratory diseases


Summaries for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

NIH Rare Diseases : 50 pulmonary arterial hypertension(pah) is a progressive condition that affects the heart and lungs. it is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. the most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. as the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. most cases of pah occur in individuals with no family history of the disorder. although some cases are due to mutations in the bmpr2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. when pah is inherited from an affected relative it is called "familial" pah. cases with no identifiable cause may be referred to as "idiopathic" pah. pah can also occur secondary to an underlying disorder such as connective tissue diseases, hiv infection, chronic hemolytic anemia, and congenital heart disease, to name a few. pah can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the fda), toxic rapeseed oil, and amphetamines.  last updated: 9/20/2013

MalaCards based summary : Pulmonary Hypertension, Familial Primary, 1, with or Without Hht, also known as pulmonary arterial hypertension, is related to pulmonary venoocclusive disease 1 and phenylketonuria, and has symptoms including palpitations, syncope and dyspnea. An important gene associated with Pulmonary Hypertension, Familial Primary, 1, with or Without Hht is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta Signaling Pathways and ALK1 signaling events. The drugs Bosentan and Cocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and embryo

Genetics Home Reference : 25 Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.

OMIM : 54
Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). (178600)

UniProtKB/Swiss-Prot : 71 Pulmonary hypertension, primary, 1: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Related Diseases for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Diseases related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
id Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1 28.8 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 phenylketonuria 12.2
3 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.1
4 pulmonary hypertension 12.0
5 mild phenylketonuria 11.7
6 pulmonary hypertension, primary, 4 11.7
7 lymphedema and cerebral arteriovenous anomaly 11.5
8 hyperphenylalaninemia 11.4
9 mild hyperphenylalaninemia 11.3
10 classic phenylketonuria 11.3
11 tetrahydrobiopterin deficiency 11.2
12 pulmonary hypertension, primary, 3 11.1
13 pulmonary hypertension, primary, 2 11.1
14 pulmonary venoocclusive disease 10.9
15 pulmonary venoocclusive disease 2 10.9
16 idiopathic and/or familial pulmonary arterial hypertension 10.1
17 heritable pulmonary arterial hypertension 10.1
18 vaginal spindle cell epithelioma 9.9 ACVRL1 BMPR2
19 retinitis 9.9
20 aneurysm 9.9
21 endotheliitis 9.9
22 shigellosis 9.9
23 eisenmenger syndrome 9.8
24 hematocele of tunica vaginalis testis 9.8 ACVRL1 BMPR2
25 human herpesvirus 8 9.8
26 open-angle glaucoma 9.7
27 retinal detachment 9.7
28 pulmonary edema 9.7
29 pericardial effusion 9.7
30 liver cirrhosis 9.7
31 thyroiditis 9.7
32 poems syndrome 9.7
33 retinal vein occlusion 9.7
34 hypothyroidism 9.7
35 syncope 9.7
36 hyperhomocysteinemia 9.7
37 central retinal vein occlusion 9.7
38 thrombosis 9.7
39 ischemia 9.7
40 pulmonary branches stenosis 9.7 ACVRL1 ENG
41 autoimmune polyendocrine syndrome 9.7
42 venous insufficiency 9.7
43 vitamin d-dependent rickets type ii 9.6 ACVRL1 ENG
44 conjunctival intraepithelial neoplasm 9.6 ACVRL1 BMPR2 KCNK3
45 tooth erosion 9.6 ACVRL1 ENG
46 extrahepatic bile duct adenocarcinoma 9.6 ACVRL1 BMPR2
47 atherosclerosis 9.5
48 sickle cell disease 9.5
49 atrial septal aneurysm 9.5
50 rheumatoid arthritis 9.5

Comorbidity relations with Pulmonary Hypertension, Familial Primary, 1, with or Without Hht via Phenotypic Disease Network (PDN): (show all 38)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Disorder Bronchitis
Cardiac Arrest Chronic Kidney Failure
Chronic Myocardial Ischemia Chronic Pulmonary Heart Disease
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis
Hypothyroidism Idiopathic Interstitial Pneumonia
Intermediate Coronary Syndrome Iron Deficiency Anemia
Ischemic Heart Disease Kidney Disease
Left Ventricular Outflow Tract Obstruction Mitral Valve Disease
Mitral Valve Stenosis Nutmeg Liver
Peripheral Vascular Disease Postinflammatory Pulmonary Fibrosis
Protein-Energy Malnutrition Pulmonary Valve Disease
Respiratory Failure Rheumatic Heart Disease
Right Bundle Branch Block Sinoatrial Node Disease
Sleep Apnea Systemic Scleroderma
Third-Degree Atrioventricular Block Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:



Diseases related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Symptoms & Phenotypes for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Symptoms via clinical synopsis from OMIM:

54

Respiratory- Lung:
dyspnea
pulmonary function tests may show restrictive pattern

Cardiovascular- Heart:
right ventricular hypertrophy
decreased cardiac output
right ventricular failure
elevated right atrial pressure

Laboratory- Abnormalities:
arterial hypoxemia

Cardiovascular- Vascular:
increased pulmonary vascular resistance
plexiform vascular lesions
increased pulmonary artery pressure (mean greater than 25 mm hg at rest and 30 mm hg during exercise)
pulmonary artery vasoconstriction
arterial vascular wall remodeling
more
Hematology:
thrombosis


Clinical features from OMIM:

178600

Human phenotypes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palpitations 56 32 frequent (33%) Occasional (29-5%) HP:0001962
2 syncope 56 32 frequent (33%) Frequent (79-30%) HP:0001279
3 dyspnea 56 32 frequent (33%) Obligate (100%) HP:0002094
4 congestive heart failure 56 32 occasional (7.5%) Frequent (79-30%) HP:0001635
5 increased pulmonary vascular resistance 56 32 hallmark (90%) Very frequent (99-80%) HP:0005317
6 right ventricular hypertrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001667
7 hemoptysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002105
8 chest pain 56 32 hallmark (90%) Frequent (79-30%) HP:0100749
9 tricuspid regurgitation 56 32 frequent (33%) Frequent (79-30%) HP:0005180
10 heart murmur 56 32 frequent (33%) Frequent (79-30%) HP:0030148
11 ankle swelling 56 32 frequent (33%) Frequent (79-30%) HP:0001785
12 edema of the lower limbs 56 32 frequent (33%) Occasional (29-5%) HP:0010741
13 abnormality of jugular vein 56 32 hallmark (90%) Very frequent (99-80%) HP:3000042
14 edema of the dorsum of feet 56 32 frequent (33%) Frequent (79-30%) HP:0012098
15 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
16 hepatomegaly 32 frequent (33%) HP:0002240
17 fatigue 32 frequent (33%) HP:0012378
18 hypertension 32 HP:0000822
19 pulmonary hypertension 56 Very frequent (99-80%)
20 sudden cardiac death 32 occasional (7.5%) HP:0001645
21 vertigo 32 frequent (33%) HP:0002321
22 chronic hemolytic anemia 56 Excluded (0%)
23 ascites 32 occasional (7.5%) HP:0001541
24 capillary hemangiomas 32 occasional (7.5%) HP:0005306
25 right ventricular failure 32 hallmark (90%) HP:0001708
26 elevated right atrial pressure 32 hallmark (90%) HP:0005168
27 pulmonary artery vasoconstriction 32 frequent (33%) HP:0005308
28 pulmonary arterial hypertension 32 very rare (1%) HP:0002092
29 acrocyanosis 32 occasional (7.5%) HP:0001063
30 telangiectasia 32 HP:0001009
31 abnormal thrombosis 32 frequent (33%) HP:0001977
32 abnormality of the tricuspid valve 32 occasional (7.5%) HP:0001702
33 elevated pulmonary artery pressure 56 Very frequent (99-80%)
34 abnormality of connective tissue 56 Excluded (0%)
35 pulmonary arterial medial hypertrophy 32 frequent (33%) HP:0004964
36 pulmonary aterial intimal fibrosis 32 frequent (33%) HP:0005312
37 arterial intimal fibrosis 32 HP:0011353

UMLS symptoms related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:


dyspnea

MGI Mouse Phenotypes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 embryo MP:0005380 9.56 ACVRL1 BMPR2 ENG FOXF1
3 muscle MP:0005369 9.46 ACVRL1 BMPR2 ENG FOXF1
4 normal MP:0002873 9.26 BMPR2 ENG KCNK3 ACVRL1
5 respiratory system MP:0005388 9.02 ACVRL1 BMPR2 ENG FOXF1 KCNK3

Drugs & Therapeutics for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Drugs for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational 147536-97-8 104865
2
Cocaine Approved, Illicit 50-36-2 5760 446220
3
Methamphetamine Approved, Illicit 537-46-2 10836
4 Antihypertensive Agents
5 Endothelin Receptor Antagonists
6 Tryptophan Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan

Search NIH Clinical Center for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Genetic Tests for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Genetic tests related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

id Genetic test Affiliating Genes
1 Pulmonary Arterial Hypertension 29

Anatomical Context for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

MalaCards organs/tissues related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

39
Heart, Lung, Testes, Endothelial, Smooth Muscle

Publications for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

71 (show all 18)
id Symbol AA change Variation ID SNP ID
1 BMPR2 p.Cys60Tyr VAR_013670
2 BMPR2 p.Cys117Tyr VAR_013671
3 BMPR2 p.Cys118Trp VAR_013672 rs137852743
4 BMPR2 p.Cys123Arg VAR_013673 rs137852750
5 BMPR2 p.Cys123Ser VAR_013674 rs137852750
6 BMPR2 p.Cys347Tyr VAR_013676 rs137852744
7 BMPR2 p.Cys420Arg VAR_013677
8 BMPR2 p.Cys483Arg VAR_013678
9 BMPR2 p.Asp485Gly VAR_013679 rs137852745
10 BMPR2 p.Arg491Gln VAR_013680 rs137852749
11 BMPR2 p.Arg491Trp VAR_013681 rs137852746
12 BMPR2 p.Lys512Thr VAR_013682
13 BMPR2 p.Asn519Lys VAR_013683
14 BMPR2 p.Gln82His VAR_033109
15 BMPR2 p.Gly182Asp VAR_033110 rs137852754
16 BMPR2 p.Arg899Pro VAR_033111 rs137852752
17 BMPR2 p.Tyr67Cys VAR_073041
18 BMPR2 p.Ser863Asn VAR_073042

ClinVar genetic disease variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

6 (show top 50) (show all 383)
id Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 BMPR2, 1-BP DEL, 2579T deletion Pathogenic
2 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh37 Chromosome 2, 203421083: 203421083
3 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
4 BMPR2 BMPR2, 1-BP DEL, 355A deletion Pathogenic
5 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
6 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
7 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
8 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
9 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
10 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
11 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
12 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
13 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
14 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
15 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
16 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
17 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
18 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
19 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
20 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
21 BMPR2 BMPR2, EX10DEL deletion Pathogenic
22 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
23 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
24 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
25 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh37 Chromosome 2, 203332289: 203332289
26 BMPR2 NM_001204.6(BMPR2): c.377A> G (p.Asn126Ser) single nucleotide variant Pathogenic rs863223426 GRCh37 Chromosome 2, 203332371: 203332371
27 BMPR2 NM_001204.6(BMPR2): c.797G> C (p.Arg266Thr) single nucleotide variant Pathogenic rs374694591 GRCh37 Chromosome 2, 203383720: 203383720
28 BMPR2 NM_001204.6(BMPR2): c.853-2A> G single nucleotide variant Pathogenic rs863223424 GRCh38 Chromosome 2, 202520085: 202520085
29 BMPR2 NM_001204.6(BMPR2): c.1128+1G> A single nucleotide variant Pathogenic rs863223420 GRCh38 Chromosome 2, 202530955: 202530955
30 BMPR2 NM_001204.6(BMPR2): c.1426_1450del25 (p.Leu476Glyfs) deletion Pathogenic rs863223422 GRCh38 Chromosome 2, 202552728: 202552752
31 ACVRL1 NM_000020.2(ACVRL1): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs758683062 GRCh37 Chromosome 12, 52307459: 52307459
32 ACVRL1 NM_000020.2(ACVRL1): c.1451G> A (p.Arg484Gln) single nucleotide variant Pathogenic rs863223408 GRCh38 Chromosome 12, 51920832: 51920832
33 BMPR2 NM_001204.6(BMPR2): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs869025366 GRCh37 Chromosome 2, 203378462: 203378462
34 BMPR2 NM_001204.6(BMPR2): c.1276G> C (p.Gly426Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025367 GRCh37 Chromosome 2, 203397455: 203397455
35 FOXF1 NC_000016.10: g.(?_86510584)_(86513143_?)del deletion Pathogenic GRCh38 Chromosome 16, 86510584: 86513143
36 BMPR2 NM_001204.6(BMPR2): c.1125_1128+16del deletion Pathogenic rs878854272 GRCh37 Chromosome 2, 203395674: 203395693
37 BMPR2 NM_001204.6(BMPR2): c.248-329_418+6029del deletion Likely pathogenic GRCh37 Chromosome 2, 203331913: 203338445
38 BMPR2 NM_001204.6(BMPR2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs886039219 GRCh38 Chromosome 2, 202377490: 202377490
39 BMPR2 NM_001204.6(BMPR2): c.174_175dupAT (p.Leu59Tyrfs) duplication Pathogenic rs886039223 GRCh38 Chromosome 2, 202464906: 202464907
40 BMPR2 NM_001204.6(BMPR2): c.1277-10_1277-9insGGG insertion Pathogenic rs886039220 GRCh38 Chromosome 2, 202542301: 202542302
41 BMPR2 NM_001204.6(BMPR2): c.1443_1445delAGA (p.Glu481del) deletion Pathogenic rs886039221 GRCh37 Chromosome 2, 203417468: 203417470
42 BMPR2 NM_001204.6(BMPR2): c.1469C> T (p.Ala490Val) single nucleotide variant Pathogenic rs886039222 GRCh38 Chromosome 2, 202552771: 202552771
43 BMPR2 NM_001204.6(BMPR2): c.1789C> T (p.Arg597Ter) single nucleotide variant Pathogenic rs886039673 GRCh37 Chromosome 2, 203420177: 203420177
44 BMPR2 NM_001204.6(BMPR2): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs886041324 GRCh37 Chromosome 2, 203383560: 203383560
45 BMPR2 NM_001204.6(BMPR2): c.77-?_418+?del deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203332412
46 BMPR2 NM_001204.6(BMPR2): c.1398G> A (p.Trp466Ter) single nucleotide variant Pathogenic rs1060502576 GRCh38 Chromosome 2, 202542432: 202542432
47 BMPR2 NM_001204.6(BMPR2): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs1060502581 GRCh38 Chromosome 2, 202520195: 202520195
48 BMPR2 NG_009363.1: g.(6225_93482)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202377551: 202559947
49 BMPR2 NG_009363.1: g.(96364_142392)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202467690: 202559947
50 BMPR2 NG_009363.1: g.(171122_181389)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202542448: 202559947

Copy number variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262570 X 37500000 47300000 Microdeletion idiopathic pulmonary hypertension
2 264430 2 202949294 203140719 Deletion BMPR2 Pulmonary arterial hypertension

Expression for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Search GEO for disease gene expression data for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht.

Pathways for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Pathways related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.96 ACVRL1 ENG
2
Show member pathways
10.05 ACVRL1 BMPR2

GO Terms for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Cellular components related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.8 ACVRL1 BMPR2 ENG

Biological processes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.88 ACVRL1 BMPR2 ENG FOXF1
2 negative regulation of cell growth GO:0030308 9.63 ACVRL1 BMPR2
3 positive regulation of angiogenesis GO:0045766 9.62 ACVRL1 ENG
4 negative regulation of cell migration GO:0030336 9.62 ACVRL1 ENG
5 positive regulation of endothelial cell proliferation GO:0001938 9.61 ACVRL1 BMPR2
6 vasculogenesis GO:0001570 9.61 ENG FOXF1
7 signal transduction by protein phosphorylation GO:0023014 9.6 ACVRL1 BMPR2
8 cellular response to BMP stimulus GO:0071773 9.59 ACVRL1 BMPR2
9 lung alveolus development GO:0048286 9.58 BMPR2 FOXF1
10 blood vessel remodeling GO:0001974 9.57 ACVRL1 BMPR2
11 outflow tract septum morphogenesis GO:0003148 9.56 BMPR2 ENG
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 ACVRL1 BMPR2
13 activin receptor signaling pathway GO:0032924 9.54 ACVRL1 BMPR2
14 endocardial cushion morphogenesis GO:0003203 9.52 ACVRL1 ENG
15 negative regulation of DNA biosynthetic process GO:2000279 9.51 ACVRL1 BMPR2
16 BMP signaling pathway GO:0030509 9.5 ACVRL1 BMPR2 ENG
17 endocardial cushion development GO:0003197 9.49 BMPR2 FOXF1
18 lymphangiogenesis GO:0001946 9.48 ACVRL1 BMPR2
19 artery development GO:0060840 9.46 ACVRL1 BMPR2
20 retina vasculature development in camera-type eye GO:0061298 9.43 ACVRL1 BMPR2
21 dorsal aorta morphogenesis GO:0035912 9.4 ACVRL1 ENG
22 lymphatic endothelial cell differentiation GO:0060836 9.37 ACVRL1 BMPR2
23 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.33 ACVRL1 BMPR2 ENG
24 endocardial cushion to mesenchymal transition GO:0090500 9.26 ACVRL1 ENG
25 positive regulation of BMP signaling pathway GO:0030513 9.13 ACVRL1 BMPR2 ENG
26 venous blood vessel development GO:0060841 8.8 ACVRL1 BMPR2 FOXF1

Molecular functions related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.37 ACVRL1 ENG
2 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
3 activin binding GO:0048185 9.26 ACVRL1 ENG
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
5 BMP binding GO:0036122 8.96 BMPR2 ENG
6 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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