PPH3
MCID: PLM127
MIFTS: 34

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 56 73 71
Primary Pulmonary Hypertension 3 29 6
Pph3 56 73
Hypertension, Pulmonary, Primary, Type 3 39

Characteristics:

OMIM:

56
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:

31
pulmonary hypertension, primary, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 56 615343
OMIM Phenotypic Series 56 PS178600
MeSH 43 D006976
UMLS 71 C3809192

Summaries for Pulmonary Hypertension, Primary, 3

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 HP:0002094
2 pulmonary arterial hypertension 31 HP:0002092
3 elevated pulmonary artery pressure 31 HP:0004890
4 increased pulmonary vascular resistance 31 HP:0005317

Symptoms via clinical synopsis from OMIM:

56
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:

40
Endothelial, Breast, Lymph Node, Brain, Colon, Lung, Prostate

Publications for Pulmonary Hypertension, Primary, 3

Articles related to Pulmonary Hypertension, Primary, 3:

(show top 50) (show all 1682)
# Title Authors PMID Year
1
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 56 6
22474227 2012
2
Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. 56
19487814 2009
3
Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. 56
12177436 2002
4
Heritable Pulmonary Arterial Hypertension 6
20301658 2002
5
Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. 56
11498544 2001
6
Photophysics and visible light photodissociation of supramolecular meso-tetra(4-pyridyl) porphyrin/RuCl2(CO)(PPh3)2 structures. 61
32361521 2020
7
Selective Metal-Controlled Synthesis of Trifluoromethylated (Indolin-2-ylidene)methyl- and Quinolin-3-ylphosphonates. 61
32567314 2020
8
Electrocatalytic proton-reduction behaviour of telluride-capped triiron clusters: tuning of overpotentials and stabilization of redox states relative to lighter chalcogenide analogues. 61
32406893 2020
9
Influence of Ligand and Nuclearity on the Cytotoxicity of Cyclometallated C^N^C Platinum(II) Complexes. 61
32520417 2020
10
Phosphane-functionalized heavier tetrylenes: synthesis of silylene- and germylene-decorated phosphanes and their reactions with Group 10 metal complexes. 61
32515774 2020
11
The π-extended coumarins derived with nonhydrolyzable iminophosphoranes as two-photon excited fluorophores. 61
32512991 2020
12
Antitumoral effects of mitochondria-targeting neutral and cationic cis-[bis(1,3-dibenzylimidazol-2-ylidene)Cl(L)]Pt(ii) complexes. 61
32555811 2020
13
The synthesis and structure of the [PdAu13(PPh3)3(SR)7]+ nanocluster. 61
32458944 2020
14
Heterobimetallic μ2-carbido complexes of platinum and tungsten. 61
32500904 2020
15
Halogenation of A-frame μ-carbido complexes: a diamagnetic rhodium(ii) carbido complex. 61
32525139 2020
16
Efficient Blue Phosphorescence in Gold(I)-Acetylide Functionalized Coinage Metal Bisamidinate Complexes. 61
32520425 2020
17
Synthesis and reactivity of cyclobutadiene nickel bromide. 61
32374317 2020
18
Polyhydrido Copper Nanoclusters with a Hollow Icosahedral Core: [Cu30H18{E2P(OR)2}12] (E = S or Se; R = n Pr, i Pr or i Bu). 61
32378767 2020
19
Ultrastable hydrido gold nanoclusters with the protection of phosphines. 61
32453310 2020
20
The significance of phosphoniocarbynes in halocarbyne cross-coupling reactions. 61
32319470 2020
21
Ruthenium Complexes of Stibino Derivatives of Carboxylic Amides: Synthesis and Characterization of Bidentate Sb,E, Tridentate Sb,E2, and Tetradentate Sb,E3 (E = N and O) Ligands and Their Reactivity Toward [RuCl2(PPh3)3]. 61
32286068 2020
22
Synthesis of unsymmetrical disulfides via PPh3-mediated reductive coupling of thiophenols with sulfonyl chlorides. 61
32469364 2020
23
An experimental and theoretical study of the coordination and donor properties of tris-2-pyridyl-phosphine ligands. 61
32242884 2020
24
Ligand engineering of immobilized nanoclusters on surfaces: ligand exchange reactions with supported Au11(PPh3)7Br3. 61
32319978 2020
25
Unprecedented formation of palladium(II)-pyrazole based thiourea from chromone thiosemicarbazone and [PdCl2(PPh3)2]: Interaction with biomolecules and apoptosis through mitochondrial signaling pathway. 61
31981770 2020
26
Syntheses, Reactivities, Characterization, and Crystal Structures of Dipalladium Complexes Containing the 1,3-pyrimidinyl Ligand: Structures of [Pd(PPh3)(Br)]2(μ,η2-C4H3N2)2, [Pd(Br)]2(μ,η2-Hdppa)2, and [{Pd(PPh3)(CH3CN)}2(μ,η2-C4H3N2)2][BF4]2. 61
32349398 2020
27
Metal promoted conversion of aromatic amines to ortho-phenylenediimine derivatives by a radical coupling path. 61
32096810 2020
28
Synthesis of 2-substituted furo[3,2-b]pyridines under Pd/C-Cu Catalysis Assisted by Ultrasound: Their Evaluation as Potential Cytotoxic Agents. 61
32160853 2020
29
The post-functionalization of Co(iii)PPh3 triarylcorroles through Suzuki-Miyaura couplings and their tunable electrochemically-catalyzed hydrogen evolution and oxygen reduction. 61
32101178 2020
30
Ag18(μ8-S)(p-TBBT)16(PPh3)8: symmetry breaking induced by the core to generate chirality. 61
32022022 2020
31
Influence of initiating groups on phosphino-phenolate nickel catalyzed ethylene (co)polymerization. 61
32040101 2020
32
Photocatalytic decarboxylative alkenylation of α-amino and α-hydroxy acid-derived redox active esters by NaI/PPh3 catalysis. 61
32003367 2020
33
Condensation of 1,2-dicarbonyl compounds with modified Huisgen zwitterions: synthesis of N-aryl-N-acyl hydrazones. 61
31854422 2020
34
Ultrasound Assisted Synthesis of 2-Substituted Benzofurans via One-Pot and Sequential Method: Their In Vitro Evaluation. 61
31994471 2020
35
Mitotic activity index and CD25+ lymphocytes predict risk of stage progression in non-muscle invasive bladder cancer. 61
32484812 2020
36
Hydride, chloride, and bromide show similar electronic effects in the Au9(PPh3)83+ nanocluster. 61
31904056 2020
37
CNN pincer ruthenium complexes for efficient transfer hydrogenation of biomass-derived carbonyl compounds. 61
31833504 2020
38
Hard X-ray spectroscopy: an exhaustive toolbox for mechanistic studies (?). 61
31532420 2019
39
Bambusurils as a mechanistic tool for probing anion effects. 61
31503271 2019
40
Genetic interaction between Ptc2 and protein phosphatase 4 (PP4) in the regulation of DNA damage response and virulence in Candida albicans. 61
31644792 2019
41
Crystal structure of dicarbon-yl[μ2-methyl-enebis(di-phenyl-phosphane)-κ2P:P'][μ2-2-(2,4,5-tri-methyl-phen-yl)-3-oxoprop-1-ene-1,3-di-yl](tri-phenyl-phosphane-κP)ironplatinum(Fe-Pt)-di-chloro-methane-toluene (1/1/2), [(OC)2Fe(μ-dppm)(μ-C(=O)C(2,4,5-C6H2Me3)=CH)Pt(PPh3)]. 61
31871755 2019
42
Hydrogenating an organometallic carbon chain: buten-yn-diyl (CH[double bond, length as m-dash]CHC[triple bond, length as m-dash]C) as a missing link. 61
31576871 2019
43
Palladium-catalyzed decarboxylative heterocyclizations of [60]fullerene: preparation of novel vinyl-substituted [60]fullerene-fused tetrahydrofurans/pyrans/quinolines. 61
31729498 2019
44
Inter-ligand intramolecular through-space anisotropic shielding in a series of manganese carbonyl phosphorous compounds. 61
31559411 2019
45
Magnetic anisotropy in trigonal planar Fe(ii) bis(trimethylsilyl)amido complexes of the type [Fe{N(SiMe3)2}2L]-experiment and theory. 61
31538172 2019
46
Transforming PPh3 into bidentate phosphine ligands at Ru-Zn heterobimetallic complexes. 61
31478040 2019
47
Synthesis, characterization and catalytic activity of novel ruthenium complexes bearing NNN click based ligands. 61
31464307 2019
48
Coordination Chemistry of P4 S3 and P4 Se3 towards the Iron Fragments [Fe(Cp)(CO)2 ]+ and [Fe(Cp)(PPh3 )(CO)]. 61
31287589 2019
49
From Phosphidic to Phosphonium? Umpolung of the P4 -Bonding Situation in [CpFe(CO)(L)(η1 -P4 )]+ Cations (L=CO or PPh3 ). 61
31066932 2019
50
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. 61
31390811 2019

Variations for Pulmonary Hypertension, Primary, 3

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

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 CAV1 NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)indel Pathogenic 128609 rs587780295 7:116199205-116199206 7:116559151-116559152
4 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)deletion Pathogenic 208669 rs797044871 7:116199282-116199283 7:116559228-116559229
5 CAV1 NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)SNV Conflicting interpretations of pathogenicity 541324 rs201966419 7:116199304-116199304 7:116559250-116559250
6 CAV1 NM_001753.5(CAV1):c.28G>T (p.Glu10Ter)SNV Conflicting interpretations of pathogenicity 800276 7:116165144-116165144 7:116525090-116525090
7 BMPR1B NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg)SNV Uncertain significance 522761 rs757312834 4:96025655-96025655 4:95104504-95104504
8 CAV1 NM_001753.5(CAV1):c.512G>A (p.Arg171His)SNV Uncertain significance 650998 7:116199316-116199316 7:116559262-116559262
9 CAV1 NM_001753.5(CAV1):c.357C>T (p.Phe119=)SNV Likely benign 701521 7:116199161-116199161 7:116559107-116559107
10 CAV1 NM_001753.5(CAV1):c.533T>A (p.Ile178Lys)SNV Likely benign 700514 7:116199337-116199337 7:116559283-116559283
11 CAV1 NM_001753.5(CAV1):c.285G>A (p.Thr95=)SNV Likely benign 715166 7:116199089-116199089 7:116559035-116559035
12 CAV1 NM_001753.5(CAV1):c.177C>G (p.Leu59=)SNV Likely benign 762146 7:116166725-116166725 7:116526671-116526671
13 CAV1 NM_001753.5(CAV1):c.448A>G (p.Ile150Val)SNV Likely benign 566670 rs140936491 7:116199252-116199252 7:116559198-116559198
14 CAV1 NM_001753.5(CAV1):c.192C>T (p.Val64=)SNV Likely benign 474315 rs749434738 7:116166740-116166740 7:116526686-116526686
15 CAV1 NM_001753.5(CAV1):c.463G>A (p.Val155Ile)SNV Likely benign 695522 7:116199267-116199267 7:116559213-116559213
16 CAV1 NM_001753.5(CAV1):c.507T>C (p.Asn169=)SNV Likely benign 696214 7:116199311-116199311 7:116559257-116559257
17 CAV1 NM_001753.5(CAV1):c.258G>A (p.Lys86=)SNV Likely benign 699189 7:116199062-116199062 7:116559008-116559008
18 CAV1 NM_001753.5(CAV1):c.348C>T (p.Gly116=)SNV Benign 699061 7:116199152-116199152 7:116559098-116559098
19 CAV1 NM_001753.5(CAV1):c.246C>T (p.Asp82=)SNV Benign 439457 rs35242077 7:116199050-116199050 7:116558996-116558996
20 CAV1 NM_001753.5(CAV1):c.129C>T (p.Asp43=)SNV Benign 696786 7:116166677-116166677 7:116526623-116526623
21 CAV1 NM_001753.5(CAV1):c.156C>T (p.Val52=)SNV Benign 128610 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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