PPH3
MCID: PLM127
MIFTS: 33

Pulmonary Hypertension, Primary, 3 (PPH3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension, Primary, 3

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 3:

Name: Pulmonary Hypertension, Primary, 3 57 74 72
Primary Pulmonary Hypertension 3 29 6
Pph3 57 74
Hypertension, Pulmonary, Primary, Type 3 40

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
variable age at onset (range infancy to adulthood)
one family and 1 unrelated patient have been reported (last curated july 2013)

Inheritance:
autosomal dominant


HPO:

32
pulmonary hypertension, primary, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

MeSH 44 D006976
UMLS 72 C3809192

Summaries for Pulmonary Hypertension, Primary, 3

UniProtKB/Swiss-Prot : 74 Pulmonary hypertension, primary, 3: 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.

MalaCards based summary : Pulmonary Hypertension, Primary, 3, also known as primary pulmonary hypertension 3, is related to pulmonary hypertension, primary, 2 and combined pulmonary fibrosis-emphysema syndrome, and has symptoms including dyspnea An important gene associated with Pulmonary Hypertension, Primary, 3 is CAV1 (Caveolin 1). Affiliated tissues include endothelial, breast and lymph node, and related phenotypes are dyspnea and pulmonary arterial hypertension

More information from OMIM: 615343 PS178600

Related Diseases for Pulmonary Hypertension, Primary, 3

Graphical network of the top 20 diseases related to Pulmonary Hypertension, Primary, 3:



Diseases related to Pulmonary Hypertension, Primary, 3

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 3

Human phenotypes related to Pulmonary Hypertension, Primary, 3:

32
# Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 pulmonary arterial hypertension 32 HP:0002092
3 elevated pulmonary artery pressure 32 HP:0004890
4 increased pulmonary vascular resistance 32 HP:0005317

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea

Cardiovascular Vascular:
increased pulmonary vascular resistance
increased pulmonary artery pressure
pulmonary artery vascular wall remodeling
pulmonary arteries show medial hypertrophy

Clinical features from OMIM:

615343

UMLS symptoms related to Pulmonary Hypertension, Primary, 3:


dyspnea

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 3

Search Clinical Trials , NIH Clinical Center for Pulmonary Hypertension, Primary, 3

Genetic Tests for Pulmonary Hypertension, Primary, 3

Genetic tests related to Pulmonary Hypertension, Primary, 3:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 3 29 CAV1

Anatomical Context for Pulmonary Hypertension, Primary, 3

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 3:

41
Endothelial, Breast, Lymph Node, Brain, Colon, Prostate, Lung

Publications for Pulmonary Hypertension, Primary, 3

Articles related to Pulmonary Hypertension, Primary, 3:

(show top 50) (show all 1639)
# Title Authors PMID Year
1
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 8 71
22474227 2012
2
Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. 8
19487814 2009
3
Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. 8
12177436 2002
4
Heritable Pulmonary Arterial Hypertension 71
20301658 2002
5
Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. 8
11498544 2001
6
From deep blue to green emitting and ultralong fluorescent copper(i) halide complexes containing dimethylthiophene diphosphine and PPh3 ligands. 38
31290886 2019
7
From Phosphidic to Phosphonium? Umpolung of the P4 -Bonding Situation in [CpFe(CO)(L)(η1 -P4 )]+ Cations (L=CO or PPh3 ). 38
31066932 2019
8
New Perspectives on the Electronic and Geometric Structure of Au70S20(PPh3)12 Cluster: Superatomic-Network Core Protected by Novel Au12(µ3-S)10 Staple Motifs. 38
31390811 2019
9
Phosphatase-dependent fluctuations in DNA-damage checkpoint activation at partially defective telomeres. 38
31202459 2019
10
4-Coordinated, 14-electron ruthenium(ii) chalcogenolate complexes: synthesis, electronic structure and reactions with PhICl2 and organic azides. 38
31429838 2019
11
A dipyrromethane-based diphosphane-germylene as precursor to tetrahedral copper(i) and T-shaped silver(i) and gold(i) PGeP pincer complexes. 38
31423508 2019
12
Palladium-Catalyzed Diarylation of Isocyanides with Tetraarylleads for the Selective Synthesis of Imines and α-Diimines. 38
31432680 2019
13
Synthesis and characterization of bis(pyrazolyl)borate Ni(ii) complexes: ligand rearrangement and transformation. 38
31414094 2019
14
Cyclometallation reactions of a three-coordinate cobalt(i) complex bearing a nonsymmetric N-heterocyclic carbene ligand. 38
30924816 2019
15
Coordination Chemistry of P4S3 and P4Se3 towards the Iron Fragments [Fe(Cp)(CO)2]+ and [Fe(Cp)(PPh3)(CO)]. 38
31287589 2019
16
Solvent-tailored Pd3P0.95 nano catalyst for amide-nitrile inter-conversion, the hydration of nitriles and transfer hydrogenation of the C[double bond, length as m-dash]O bond. 38
31180393 2019
17
Synthesis, X-ray structure, physicochemical properties and anticancer activity of mer and fac Ru(iii) triphenylphosphine complexes with a benzothiazole derivative as a co-ligand. 38
31241117 2019
18
Iridium porphyrin complexes with μ-nitrido, hydroxo, hydrosulfido and alkynyl ligands. 38
31112175 2019
19
Four-component relativistic 31P NMR calculations for trans-platinum(ii) complexes: importance of the solvent and dynamics in spectral simulations. 38
30916692 2019
20
Metal-directed self-assembly of transition metal heterometallascorpionates. 38
31016291 2019
21
A [C1 + C2] route to propargylidyne complexes. 38
31017161 2019
22
In vitro cytotoxicity and in vivo zebrafish toxicity evaluation of Ru(ii)/2-mercaptopyrimidine complexes. 38
30724926 2019
23
Modification of polyhydroxyalkanoates: Evaluation of the effectiveness of novel copper(II) catalysts in click chemistry. 38
30682482 2019
24
[Cr(ttpy)2]3+ as a multi-electron reservoir for photoinduced charge accumulation. 38
31033972 2019
25
Rate Enhancement in CAN-Promoted Pd(PPh3)2Cl2-Catalyzed Oxidative Cyclization: Synthesis of 2-Ketofuran-4-carboxylate Esters. 38
30816716 2019
26
Ru(O2CCF3)2(PPh3)2 and ruthenium phosphine complexes bearing fluoroacetate ligands: synthesis, characterization and catalytic activity. 38
30888354 2019
27
Ru(II)/N-N/PPh3 complexes as potential anticancer agents against MDA-MB-231 cancer cells (N-N = diimine or diamine). 38
30684760 2019
28
A double rollover cycloplatinated(ii) skeleton: a versatile platform for tuning emission by chelating and non-chelating ancillary ligand systems. 38
30968899 2019
29
Ruthenium(ii)/acetate catalyzed intermolecular dehydrogenative ortho C-H silylation of 2-aryl N-containing heterocycles. 38
30968915 2019
30
Cu(i)-O2 oxidation reactions in a fluorinated all-O-donor ligand environment. 38
30869674 2019
31
Heterobimetallic ruthenium-zinc complexes with bulky N-heterocyclic carbenes: syntheses, structures and reactivity. 38
30816897 2019
32
Unbridged Rh(ii)-Rh(ii) complexes of N-heterocyclic carbenes and reactions with O2 to form dirhodium(μ-η1:η1-O2) complexes. 38
30815655 2019
33
Graphene oxide supported cobalt phosphide nanorods designed from a molecular complex for efficient hydrogen evolution at low overpotential. 38
30701265 2019
34
Halogenation of A-frame μ-carbido complexes: synthesis of μ2-halocarbynes. 38
30657478 2019
35
Redox and "Antioxidant" Properties of Fe2(μ-SH)2(CO)4(PPh3)2. 38
30724559 2019
36
Pentamethylcyclopentadienyl osmium complexes that contain diazoalkane, dioxygen and allenylidene ligands: preparation and reactivity. 38
30768111 2019
37
Methimazolyl based diptych bicyclo-[3.3.0]-ruthenaboratranes. 38
30640333 2019
38
Isoselenocarbonyl complexes. 38
30657145 2019
39
5-Mercaptotetrazolyl-derived metallaboratranes. 38
30688344 2019
40
Using para hydrogen induced polarization to study steps in the hydroformylation reaction. 38
30702728 2019
41
Bioactive and luminescent indole and isatin based gold(i) derivatives. 38
30768094 2019
42
Polynuclear Cu(i) and Ag(i) phosphine complexes containing multi-dentate polytopic ligands: syntheses, crystal structures and photoluminescence properties. 38
30560254 2019
43
Role of sterics in phosphine-ligated gold clusters. 38
30260357 2019
44
A new gold(I) complex-Au(PPh3)PT is a deubiquitinase inhibitor and inhibits tumor growth. 38
30527624 2019
45
Replication stress-induced Exo1 phosphorylation is mediated by Rad53/Pph3 and Exo1 nuclear localization is controlled by 14-3-3 proteins. 38
30622624 2019
46
Xantphos Doped POPs-PPh3 as Heterogeneous Ligand for Cobalt-Catalyzed Highly Regio- and Stereoselective Hydrosilylation of Alkynes. 38
30203915 2019
47
Isolation of OH-bridged Ag(i)/Cu(iii) and ion-pair Cu(i)/Cu(iii) trifluoromethyl complexes with monophosphines. 38
30565607 2019
48
Preparation of high-yield and ultra-pure Au25 nanoclusters: towards their implementation in real-world applications. 38
30644932 2019
49
Synthesis and ligand substitution reactions of κ4-B,S,S',S''-ruthenaboratranes. 38
30516190 2018
50
Nickel-catalysed decarbonylative borylation of aroyl fluorides. 38
30480276 2018

Variations for Pulmonary Hypertension, Primary, 3

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CAV1 NM_001753.5(CAV1): c.474del (p.Leu159fs) deletion Pathogenic rs587777017 7:116199278-116199278 7:116559224-116559224
2 CAV1 NM_001753.5(CAV1): c.473del (p.Pro158fs) deletion Pathogenic rs879255566 7:116199277-116199277 7:116559223-116559223
3 CAV1 NM_001753.5(CAV1): c.401_402delinsA (p.Ile134fs) indel Pathogenic rs587780295 7:116199205-116199206 7:116559151-116559152
4 CAV1 NM_001753.5(CAV1): c.479_480del (p.Leu159_Phe160insTer) deletion Pathogenic rs797044871 7:116199283-116199284 7:116559229-116559230
5 CAV1 NM_001753.5(CAV1): c.448A> G (p.Ile150Val) single nucleotide variant Uncertain significance 7:116199252-116199252 7:116559198-116559198
6 CAV1 NM_001753.5(CAV1): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance 7:116199316-116199316 7:116559262-116559262
7 BMPR1B NM_001203.3(BMPR1B): c.80C> G (p.Pro27Arg) single nucleotide variant Uncertain significance rs757312834 4:96025655-96025655 4:95104504-95104504
8 CAV1 NM_001753.5(CAV1): c.500T> C (p.Phe167Ser) single nucleotide variant Likely benign rs201966419 7:116199304-116199304 7:116559250-116559250
9 CAV1 NM_001753.5(CAV1): c.192C> T (p.Val64=) single nucleotide variant Likely benign rs749434738 7:116166740-116166740 7:116526686-116526686
10 CAV1 NM_001753.5(CAV1): c.156C> T (p.Val52=) single nucleotide variant Benign rs10029 7:116166704-116166704 7:116526650-116526650

Expression for Pulmonary Hypertension, Primary, 3

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 3.

Pathways for Pulmonary Hypertension, Primary, 3

GO Terms for Pulmonary Hypertension, Primary, 3

Sources for Pulmonary Hypertension, Primary, 3

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10 dbSNP
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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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