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 57 72 70
Primary Pulmonary Hypertension 3 29 6
Pph3 57 72
Hypertension, Pulmonary, Primary, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 615343
OMIM Phenotypic Series 57 PS178600
MeSH 44 D006976
UMLS 70 C3809192

Summaries for Pulmonary Hypertension, Primary, 3

UniProtKB/Swiss-Prot : 72 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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, Prostate

Publications for Pulmonary Hypertension, Primary, 3

Articles related to Pulmonary Hypertension, Primary, 3:

(show top 50) (show all 1707)
# Title Authors PMID Year
1
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 6 57
22474227 2012
2
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 6
25898808 2015
3
Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. 57
19487814 2009
4
Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. 57
12177436 2002
5
Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. 57
11498544 2001
6
A mono-copper doped undeca-gold cluster with up-converted and anti-stokes emissions of fluorescence and phosphorescence. 61
33660721 2021
7
Stereo- and Regioselective cis-Hydrophosphorylation of 1,3-Enynes Enabled by the Visible-Light Irradiation of NiCl2(PPh3)2. 61
33784463 2021
8
[Cu15 (PPh3 )6 (PET)13 ]2+ : a Copper Nanocluster with Crystallization Enhanced Photoluminescence. 61
33739606 2021
9
Ion Mobility Spectrometry Characterization of the Intermediate Hydrogen-Containing Gold Cluster Au7(PPh3)7H52. 61
33667097 2021
10
A Terminal Imido Complex of an Iron-Sulfur Cluster. 61
33772994 2021
11
Synthesis and reactivity of boryloxorhodium complexes. Relevance to intermolecular transmetalation from boron to rhodium in Rh-catalyzed reactions. 61
33624681 2021
12
A new reductant in gold cluster chemistry gives a superatomic gold gallium cluster. 61
33704275 2021
13
Direct C2-arylation of N-acyl pyrroles with aryl halides under palladium catalysis. 61
33506844 2021
14
Describing Polytopal Rearrangement Processes of Octacoordinate Structures. I. Renewed Insights into Fluxionality of the Rhenium Polyhydride Complex ReH5(PPh3)2(Pyridine). 61
33533255 2021
15
Vapochromic luminescence of a spin-coated copper(I) complex thin film by the direct coordination of vapour molecules. 61
33188665 2020
16
The bonding situation in heteromultimetallic carbonyl complexes. 61
33166376 2020
17
Silver(I) complexes of 3-methoxy-4-hydroxybenzaldehyde thiosemicarbazones and triphenylphosphine: structural, cytotoxicity, and apoptotic studies. 61
32914824 2020
18
On the reactivity of mRNA Cap0: C-H oxidative addition of 7-methylguanosine to Pt0 and base pairing studies. 61
33030477 2020
19
Quadruple bonding of bare group-13 atoms in transition metal complexes. 61
33030176 2020
20
Stabilization of Linear C3 by Two Donor Ligands: A Theoretical Study of L-C3 -L (L=PPh3 , NHCMe , cAACMe )*. 61
32743817 2020
21
Defects Engineering on Ceria and C-C Coupling Reactions Using [Au11(PPh3)7I3] Nanocluster: A Combined Experimental and Theoretical Study. 61
33253533 2020
22
Gold Drugs with {Au(PPh3 )}+ Moiety: Advantages and Medicinal Applications. 61
33025735 2020
23
Fluorescent perylenylpyridine complexes: an experimental and theoretical study. 61
32944721 2020
24
Synthetic access to a phosphorescent non-palindromic pincer complex of palladium by a double oxidative addition - comproportionation sequence. 61
32945294 2020
25
Misoprostol attenuates neonatal cardiomyocyte proliferation through Bnip3, perinuclear calcium signaling, and inhibition of glycolysis. 61
32640283 2020
26
Sequential Conia-ene-type cyclization and Negishi coupling by cooperative functions of B(C6F5)3, ZnI2, Pd(PPh3)4 and an amine. 61
32915183 2020
27
Hexa-peri-hexabenzocoronene decorated with an allenylidene ruthenium complex - almost a flyswatter. 61
32930692 2020
28
A metastable RuIII azido complex with metallo-Staudinger reactivity. 61
32789338 2020
29
Isomers in chlorido and alkoxido-substituted oxidorhenium(v) complexes: effects on catalytic epoxidation activity. 61
32743619 2020
30
Heterobimetallic propargyl gold complexes with π-bound copper or silver with enhanced anticancer activity. 61
32797134 2020
31
Full Conformational Analyses of the Ultrafast Isomerization in Penta-coordinated Ru(S2C2(CF3)2)(CO)(PPh3)2: One Compound, Two Crystal Structures, Three CO Frequencies, 24 Stereoisomers, and 48 Transition States. 61
32799482 2020
32
Copper(0)/PPh3-Mediated Bisheteroannulations of o-Nitroalkynes with Methylketoximes Accessing Pyrazo-Fused Pseudoindoxyls. 61
32686941 2020
33
Photophysics and visible light photodissociation of supramolecular meso-tetra(4-pyridyl) porphyrin/RuCl2(CO)(PPh3)2 structures. 61
32361521 2020
34
Crystal structure of {μ2-1,2-bis-[(4-methyl-phenyl-sulfan-yl]-3-oxoprop-1-ene-1,3-di-yl-1:2κ2C3:C1}dicarbon-yl-1κ2C-[μ2-methyl-enebis(di-phenyl-phos-phane)-1:2κ2P:P'](tri-phenyl-phosphane-2κP)iron-platinum(Fe-Pt), [(OC)2Fe(μ-dppm){μ-C(=O)C(4-MeC6H4SCH2)=CCH2SC6H4Me-4}Pt(PPh3)]. 61
32695457 2020
35
A PPh3-catalyzed sequential annulation reaction to construct cyclopentane-fused dihydropyrazolone-pyrrolidinediones. 61
32662811 2020
36
Antitumoral effects of mitochondria-targeting neutral and cationic cis-[bis(1,3-dibenzylimidazol-2-ylidene)Cl(L)]Pt(ii) complexes. 61
32555811 2020
37
Phosphine ligand-coated Cu nanoparticle-catalyzed selective semihydrogenation of alkynes: electronic or hindrance effects of the ligand? 61
32671372 2020
38
Halogenation of A-frame μ-carbido complexes: a diamagnetic rhodium(ii) carbido complex. 61
32525139 2020
39
Mix and (Mis)match: further studies of the electronic structure and mixed-valence characteristics of 1,4-diethynylbenzene-bridged bimetallic complexes. 61
32633735 2020
40
Phosphane-functionalized heavier tetrylenes: synthesis of silylene- and germylene-decorated phosphanes and their reactions with Group 10 metal complexes. 61
32515774 2020
41
Ultrastable hydrido gold nanoclusters with the protection of phosphines. 61
32453310 2020
42
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
43
Ligand engineering of immobilized nanoclusters on surfaces: ligand exchange reactions with supported Au11(PPh3)7Br3. 61
32319978 2020
44
Heterobimetallic μ2-carbido complexes of platinum and tungsten. 61
32500904 2020
45
The synthesis and structure of the [PdAu13(PPh3)3(SR)7]+ nanocluster. 61
32458944 2020
46
Synthesis of unsymmetrical disulfides via PPh3-mediated reductive coupling of thiophenols with sulfonyl chlorides. 61
32469364 2020
47
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
48
The significance of phosphoniocarbynes in halocarbyne cross-coupling reactions. 61
32319470 2020
49
Synthesis and reactivity of cyclobutadiene nickel bromide. 61
32374317 2020
50
Metal promoted conversion of aromatic amines to ortho-phenylenediimine derivatives by a radical coupling path. 61
32096810 2020

Variations for Pulmonary Hypertension, Primary, 3

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

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV1 NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs) Indel Pathogenic 128609 rs587780295 GRCh37: 7:116199205-116199206
GRCh38: 7:116559151-116559152
2 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) Deletion Pathogenic 208669 rs797044871 GRCh37: 7:116199282-116199283
GRCh38: 7:116559228-116559229
3 CAV1 NM_001753.5(CAV1):c.474del (p.Leu159fs) Deletion Pathogenic 56967 rs587777017 GRCh37: 7:116199278-116199278
GRCh38: 7:116559224-116559224
4 CAV1 NM_001753.5(CAV1):c.473del (p.Pro158fs) Deletion Pathogenic 56968 rs879255566 GRCh37: 7:116199275-116199275
GRCh38: 7:116559221-116559221
5 BMPR1B NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) SNV Uncertain significance 522761 rs757312834 GRCh37: 4:96025655-96025655
GRCh38: 4:95104504-95104504
6 CAV1 NM_001753.5(CAV1):c.512G>A (p.Arg171His) SNV Uncertain significance 650998 rs772468332 GRCh37: 7:116199316-116199316
GRCh38: 7:116559262-116559262
7 CAV1 NM_001753.5(CAV1):c.202T>G (p.Phe68Val) SNV Uncertain significance 944210 GRCh37: 7:116199006-116199006
GRCh38: 7:116558952-116558952
8 CAV1 NM_001753.5(CAV1):c.28G>T (p.Glu10Ter) SNV Likely benign 800276 rs370105972 GRCh37: 7:116165144-116165144
GRCh38: 7:116525090-116525090
9 CAV1 NM_001753.5(CAV1):c.448A>G (p.Ile150Val) SNV Likely benign 566670 rs140936491 GRCh37: 7:116199252-116199252
GRCh38: 7:116559198-116559198
10 CAV1 NM_001753.5(CAV1):c.507T>C (p.Asn169=) SNV Likely benign 696214 rs745369527 GRCh37: 7:116199311-116199311
GRCh38: 7:116559257-116559257
11 CAV1 NM_001753.5(CAV1):c.258G>A (p.Lys86=) SNV Likely benign 699189 rs769140669 GRCh37: 7:116199062-116199062
GRCh38: 7:116559008-116559008
12 CAV1 NM_001753.5(CAV1):c.533T>A (p.Ile178Lys) SNV Likely benign 700514 rs774239970 GRCh37: 7:116199337-116199337
GRCh38: 7:116559283-116559283
13 CAV1 NM_001753.5(CAV1):c.357C>T (p.Phe119=) SNV Likely benign 701521 rs201302545 GRCh37: 7:116199161-116199161
GRCh38: 7:116559107-116559107
14 CAV1 NM_001753.5(CAV1):c.285G>A (p.Thr95=) SNV Likely benign 715166 rs200894208 GRCh37: 7:116199089-116199089
GRCh38: 7:116559035-116559035
15 CAV1 NM_001753.5(CAV1):c.177C>G (p.Leu59=) SNV Likely benign 762146 rs1584766681 GRCh37: 7:116166725-116166725
GRCh38: 7:116526671-116526671
16 CAV1 NM_001753.5(CAV1):c.192C>T (p.Val64=) SNV Likely benign 474315 rs749434738 GRCh37: 7:116166740-116166740
GRCh38: 7:116526686-116526686
17 CAV1 NM_001753.5(CAV1):c.463G>A (p.Val155Ile) SNV Likely benign 695522 rs150368249 GRCh37: 7:116199267-116199267
GRCh38: 7:116559213-116559213
18 CAV1 NM_001753.5(CAV1):c.500T>C (p.Phe167Ser) SNV Likely benign 541324 rs201966419 GRCh37: 7:116199304-116199304
GRCh38: 7:116559250-116559250
19 CAV1 NM_001753.5(CAV1):c.246C>T (p.Asp82=) SNV Benign 439457 rs35242077 GRCh37: 7:116199050-116199050
GRCh38: 7:116558996-116558996
20 CAV1 NM_001753.5(CAV1):c.156C>T (p.Val52=) SNV Benign 128610 rs10029 GRCh37: 7:116166704-116166704
GRCh38: 7:116526650-116526650
21 CAV1 NM_001753.5(CAV1):c.129C>T (p.Asp43=) SNV Benign 696786 rs201261029 GRCh37: 7:116166677-116166677
GRCh38: 7:116526623-116526623
22 CAV1 NM_001753.5(CAV1):c.348C>T (p.Gly116=) SNV Benign 699061 rs141642234 GRCh37: 7:116199152-116199152
GRCh38: 7:116559098-116559098

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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