PPH2
MCID: PLM128
MIFTS: 30

Pulmonary Hypertension, Primary, 2 (PPH2)

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

Aliases & Classifications for Pulmonary Hypertension, Primary, 2

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 2:

Name: Pulmonary Hypertension, Primary, 2 58 76 74
Primary Pulmonary Hypertension 2 30 6
Pph2 58 76
Hypertension, Pulmonary, Primary, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
incomplete penetrance
variable age at onset


HPO:

33
pulmonary hypertension, primary, 2:
Onset and clinical course incomplete penetrance progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615342
MeSH 45 D006976
UMLS 74 C3888002

Summaries for Pulmonary Hypertension, Primary, 2

UniProtKB/Swiss-Prot : 76 Pulmonary hypertension, primary, 2: 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, 2, also known as primary pulmonary hypertension 2, is related to pulmonary hypertension and pulmonary hypertension, primary, 3. An important gene associated with Pulmonary Hypertension, Primary, 2 is SMAD9 (SMAD Family Member 9). The drugs Spironolactone and Natriuretic Peptide, Brain have been mentioned in the context of this disorder. Affiliated tissues include endothelial and brain, and related phenotypes are pulmonary arterial hypertension and increased pulmonary vascular resistance

Description from OMIM: 615342

Related Diseases for Pulmonary Hypertension, Primary, 2

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, Autosomal Recessive
Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4

Diseases related to Pulmonary Hypertension, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 11.3
2 pulmonary hypertension, primary, 3 10.2
3 triiodothyronine receptor auxiliary protein 10.1
4 pachyonychia congenita 3 10.1
5 blood group, gerbich system 10.1

Graphical network of the top 20 diseases related to Pulmonary Hypertension, Primary, 2:



Diseases related to Pulmonary Hypertension, Primary, 2

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 2

Human phenotypes related to Pulmonary Hypertension, Primary, 2:

33
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 33 HP:0002092
2 increased pulmonary vascular resistance 33 HP:0005317

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
increased pulmonary vascular resistance
pulmonary artery hypertension

Cardiovascular Heart:
right heart failure

Clinical features from OMIM:

615342

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 2

Drugs for Pulmonary Hypertension, Primary, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2 Natriuretic Peptide, Brain Phase 4
3 Natriuretic Agents Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 Mineralocorticoid Receptor Antagonists Phase 4
6 diuretics Phase 4
7 Mineralocorticoids Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Hormone Antagonists Phase 4
10 Hormones Phase 4
11
Oxytocin Approved, Vet_approved Phase 3 50-56-6 53477758 439302
12
Carbetocin Approved, Investigational Phase 3 37025-55-1 16681432 71715
13 Oxytocics Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo
2 Carbetocin Versus Oxytocin in the Prevention of Post Partum Haemorrhage (PPH) in Women Delivered Vaginally With at Least 2 Risk Factors for Atonic PPH: A Randomised Controlled Trial Completed NCT02304042 Phase 3 Carbetocin;Oxytocin

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 2

Genetic Tests for Pulmonary Hypertension, Primary, 2

Genetic tests related to Pulmonary Hypertension, Primary, 2:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 2 30 SMAD9

Anatomical Context for Pulmonary Hypertension, Primary, 2

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 2:

42
Endothelial, Brain

Publications for Pulmonary Hypertension, Primary, 2

Articles related to Pulmonary Hypertension, Primary, 2:

(show top 50) (show all 58)
# Title Authors Year
1
[Au12(PPh2)2S4(L2)4]2+ (L2 = 3,4-bis(diphenylphosphino)-2,5-bis(trimethylsilyloxy)furan): an Au12 unit protected by modified maleic anhydride phosphine ligands. ( 29292447 )
2018
2
E-H Bond Activation and Insertion Processes in the Reactions of the Unsaturated Hydride [W2Cp2(μ-H)(μ-PPh2)(NO)2]. ( 29411970 )
2018
3
Palladium-Catalyzed Direct Arylation of Polyfluoroarenes for Accessing Tetra- ortho-Substituted Biaryls: Buchwald-type Ligand Having Complementary -PPh2 Moiety Exhibits Better Efficiency. ( 29882668 )
2018
4
Beryllium Phosphine Complexes: Synthesis, Properties, and Reactivity of (PMe3 )2 BeCl2 and (Ph2 PC3 H6 PPh2 )BeCl2. ( 28004465 )
2017
5
The Elusive Palladium-Diazo Adduct Captured: Synthesis, Isolation and Structural Characterization of [(ArNHC-PPh2 )Pd(η2 -N2 C(Ph)CO2 Et)]. ( 28407417 )
2017
6
Cluster transformation of [Cu3(μ3-H)(μ3-BH4)((PPh2)2NH)3](BF4) to [Cu3(μ3-H)(μ2,μ1-S2CH)((PPh2)2NH)3](BF4) via reaction with CS2. X-ray structural characterisation and reactivity of cationic clusters explored by multistage mass spectrometry and computational studies. ( 29051946 )
2017
7
Structure and dynamics of heterometallic clusters derived from addition of metal carbonyl fragments to the unsaturated hydride [W2Cp2(μ-H)(μ-PPh2)(NO)2]. ( 29068454 )
2017
8
Studying mass spectrometric behaviors of {Au6 Ag2 (C)[PPh2 (4-CH3 -Py)]6 }(BF4 )4 and {Au8 [(PPh3 )2 O]3 (PPh3 )2 }(NO3 )2 by electrospray time-of-flight mass spectrometry and electrospray ion trap mass spectrometry. ( 27539407 )
2016
9
The search for formal electrostatic effects on molecular conformation and crystal packing: crystal structure of 2,2''-disubstituted (H versus PPh2) 1,1'-(1,2-phenylene)bis(3-methyl-1H-imidazol-3-ium) bis(trifluoromethanesulfonate). ( 26942429 )
2016
10
The doubly-bonded ditungsten anion [W2Cp2(μ-PPh2)(NO)2](-): an entry to the chemistry of unsaturated nitrosyl complexes. ( 27476536 )
2016
11
Synthesis, Structural Characterization, and Gas-Phase Unimolecular Reactivity of Bis(diphenylphosphino)amino Copper Hydride Nanoclusters [Cu3(X)(μ3-H)((PPh2)2NH)3](BF4), Where X = μ2-Cl and μ3-BH4. ( 27642661 )
2016
12
A hybrid terpyridine-based bis(diphenylphosphino)amine ligand, terpy-C6H4N(PPh2)2: synthesis, coordination chemistry and photoluminescence studies. ( 27819373 )
2016
13
Syntheses, structures and theoretical investigations of [Au10S2(PPh2)2(dppma2)4(dppma3)]·[Au6S2(dppma2)2(dppma3)]. ( 25919940 )
2015
14
Cleavage of a P-N Bond in a Urea-Containing (Ph2 P(R)PPh2 )-Bridged Dinuclear Gold(I) Thiolate Complex by Fluoride and a Mechanistic Insight. ( 25924954 )
2015
15
Reactions of the unsaturated ditungsten complexes [W2Cp2(μ-PPh2)2(CO)x] (x = 1, 2) with nitric oxide: stereoselective carbonyl displacement and oxygen-transfer reactions of a nitrite ligand. ( 24739068 )
2014
16
Reactions of trinuclear platinum clusters with electrophiles: ionisation isomerism with [Pt3(μ2-I)(μ-PPh2)2(PPh3)3]I and [Pt3(μ-PPh2)2I2(PPh3)3]. Structures of [Pt3(μ2-Cl)(μ-PPh2)2(PPh3)3]PF6, [Pt3(μ-PPh2)2I2(PPh3)3] and of the Pt-Ag cluster [Pt3{μ3-AgBF4}(μ2-I)(μ-PPh2)2(PPh3)3]BF4. ( 24760124 )
2014
17
Luminescent gold and silver complexes with the monophosphane 1-(PPh2)-2-Me-C2B10H10 and their conversion to gold micro- and superstructured materials. ( 24957193 )
2014
18
Synthesis, structural characterization, and gas-phase unimolecular reactivity of the silver hydride nanocluster [Ag3((PPh2)2CH2)3(μ3-H)](BF4)2. ( 24991699 )
2014
19
Phosphine substitution reactions of (η5-cyclopentadienyl)ruthenium bis(triarylphosphine) chloride, CpRu(PAr3)2Cl {PAr3 = PPh3, P(p-CH3C6H4)3, P(p-FC6H4)3, P(p-CH3OC6H4)3, and PPh2(p-CH3C6H4)}: a tale of two mechanisms. ( 25185443 )
2014
20
H-Bonded adducts of [2,4,6-{(C10H21O)3C6H2NH}3C3N3] with [LnM{PPh2(C6H4CO2H)}] displaying columnar mesophases at room temperature. ( 25271392 )
2014
21
Re-Re bond breaking of (μ-H)3Re3(CO)11(NCMe) upon reaction with PPh2(o-C6H4)(CH2NMeCH)C60 to generates monorhenium and dirhenium phosphino-fullerene complexes. ( 23212478 )
2013
22
Synthesis and reactivity of the unsaturated trinuclear phosphanido complex [(C6F5)2Pt(μ-PPh2)2Pt(μ-PPh2)2Pt(PPh3)]. ( 23356208 )
2013
23
Models of the iron-only hydrogenase: a comparison of chelate and bridge isomers of Fe2(CO)4{Ph2PN(R)PPh2}(μ-pdt) as proton-reduction catalysts. ( 23503781 )
2013
24
Synthesis, structure and gas-phase reactivity of a silver hydride complex [Ag3{(PPh2)2CH2}3(μ3-H)(μ3-Cl)]BF4. ( 23794326 )
2013
25
Reactivity of a tin(II) (iminophosphinoyl)(thiophosphinoyl)methanediide complex toward sulfur: synthesis and 119Sn Mössbauer spectroscopic studies of [{(μ-S)SnC(PPh2═NSiMe3)(PPh2═S)}3Sn(μ3-S)]. ( 22409480 )
2012
26
Reactions of the tetrafluoroborate complex [Mo2Cp2(κ(2)-F2BF2)(μ-PPh2)2(CO)]BF4 with mono- and bidentate ligands having E-H bonds (E = O, S, Se, N, P). ( 22715993 )
2012
27
Reactions of the unsaturated hydroxo complex [W2Cp2(OH)(μ-PPh2)2(CO)]BF4 with mono- and bidentate ligands having E-H bonds (E = O, S, N). ( 22989357 )
2012
28
Synthesis of the phosphino-fullerene PPh2(o-C6H4)(CH2NMeCH)C60 and its function as an η1-P or η3-P,C2 ligand. ( 22240994 )
2012
29
The intramolecular rearrangement of phosphinohydrazides [R'2P-NR-NR-M] → [RN═PR'2-NR-M]: general rules and exceptions. transformations of bulky phosphinohydrazines (R-NH-N(PPh2)2, R = tBu, Ph2P). ( 22208524 )
2012
30
Synthesis, characterization and photophysical properties of PPh2-C2-(C6H4)n-C2-PPh2 based bimetallic Au(I) complexes. ( 22080376 )
2012
31
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ( 21920918 )
2011
32
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. ( 21898662 )
2011
33
Highly emissive dinuclear complexes [Au2{μ-(PPh2)2C2B9H10}(C6F5)(PR3)] with different gold fragments coordinated to an anionic diphosphine. ( 21909515 )
2011
34
Intramolecularly coordinated heteroleptic organostannylene tungsten pentacarbonyl complexes 4-tBu-2,6-[P(O)(OiPr)2]2C6H2Sn(X)W(CO)5 (X = Cl, F, PPh2, PPh2[W(CO)5]). Syntheses and reactivity. ( 21792427 )
2011
35
A cw EPR and ENDOR investigation on a series of Cr(I) carbonyl complexes with relevance to alkene oligomerization catalysis: [Cr(CO)4L]+ (L = Ph2PN(R)PPh2, Ph2P(R)PPh2). ( 20664854 )
2010
36
Remarkably effective phosphanes simply with a PPh2 moiety: application to Pd-catalysed cross-coupling reactions for tetra-ortho-substituted biaryl syntheses. ( 20564295 )
2010
37
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. ( 19211612 )
2009
38
Low-temperature N-O bond cleavage in nitrosyl ligands induced by the unsaturated dimolybdenum anion [Mo2(eta(5)-C5H5)2(mu-PPh2)(mu-CO)2]-. ( 19746903 )
2009
39
Myxococcus xanthus Pph2 is a manganese-dependent protein phosphatase involved in energy metabolism. ( 19706604 )
2009
40
Migratory insertion of the R2P group into a nitrogen-nitrogen bond - a novel type of rearrangement in phosphorus-nitrogen ligand chemistry. 3. The rearrangement of triphosphinohydrazide ligand -N(PPh2)-N(PPh2)2 to triphosphazenide anion {[(Ph2P-N]2PPh2}- in the coordination sphere of divalent cobalt and nickel. ( 18318475 )
2008
41
Luminescent phosphine gold(I) thiolates: correlation between crystal structure and photoluminescent properties in [R3PAu{SC(OMe)=NC6H4NO2-4}] (R = Et, Cy, Ph) and [(Ph2P-R-PPh2){AuSC(OMe)=NC6H4NO2-4}2] (R = CH2, (CH2)2, (CH2)3, (CH2)4, Fc). ( 16999414 )
2006
42
Synthesis and coordination chemistry of a novel bidentate phosphine: 6-(diphenylphosphino)-1,3,5-triaza-7-phosphaadamantane (PTA-PPh2). ( 16903731 )
2006
43
cis-[PtBr2{PPh2(4-catechol)}2]: synthesis, crystal structure, and computational modelling of its binding to nanocrystalline TiO2. ( 16429171 )
2006
44
Synthesis, structures and reactions of lithium complexes of [(o-RCHC6H4)PPh2=NSiMe3]-(R = H, SiMe3) ligands. ( 15726156 )
2005
45
A 2D honeycomb-shaped network based on a starburst cluster: [Ag4(micro3-Cl)(PPh2(CH2)2PPh2)1.5{S2P(OR)2}3](R = Et, Pri). ( 15834479 )
2005
46
New approach to sulfonated diphosphine complexes: synthesis and amphoteric behaviour of zwitterionic [Mn+(CO4{(PPh2)2C(H)SO3-}]. ( 16193139 )
2005
47
Two-, three-, and four-coordinate Ag(I) coordination polymers formed by the novel phosphinite PPh2(3-OCH2C5H4N). ( 14753837 )
2004
48
Perfluoroalkylphosphine coordination chemistry of platinum: synthesis of (C2F5)2PPh and (C2F5)PPh2 complexes of platinum(II). ( 15252615 )
2004
49
Conversion of [Pt(SRf)2(PPh2 -n(C6F5)n+ 1)2]( n = 0 or 1, Rf=C6HF4-4) through carbon-fluorine bond activation to [Pt(SRf)2(1,2-C6F4(SRf)-(PPh2))] and chiral [Pt(SRf)2(1,2-C6F4(SRf)(PPh(C6F5)))]. ( 15340612 )
2004
50
Synthesis and characterization of novel monocarbollide exo-closo-(pi-arene)biruthenacarboranes [(PPh3)mClRu(eta6-C6H5R)Ru'CB10H11-n(OMe)n] (where R = H, m = 2, n = 1; R = mu-PPh2, m = 1, n = 0, 1). ( 15446868 )
2004

Variations for Pulmonary Hypertension, Primary, 2

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Primary, 2:

76
# Symbol AA change Variation ID SNP ID
1 SMAD9 p.Lys43Glu VAR_066871 rs397514715

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD9 NM_001127217.2(SMAD9): c.606C> A (p.Cys202Ter) single nucleotide variant Pathogenic rs121918359 GRCh37 Chromosome 13, 37446859: 37446859
2 SMAD9 NM_001127217.2(SMAD9): c.606C> A (p.Cys202Ter) single nucleotide variant Pathogenic rs121918359 GRCh38 Chromosome 13, 36872722: 36872722
3 SMAD9 NM_001127217.2(SMAD9): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs397514715 GRCh37 Chromosome 13, 37453700: 37453700
4 SMAD9 NM_001127217.2(SMAD9): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs397514715 GRCh38 Chromosome 13, 36879563: 36879563
5 SMAD9 NM_001127217.2(SMAD9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs397514716 GRCh37 Chromosome 13, 37439797: 37439797
6 SMAD9 NM_001127217.2(SMAD9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs397514716 GRCh38 Chromosome 13, 36865660: 36865660
7 SMAD9 NM_001127217.2(SMAD9): c.788G> A (p.Arg263Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78249575 GRCh38 Chromosome 13, 36865752: 36865752
8 SMAD9 NM_001127217.2(SMAD9): c.788G> A (p.Arg263Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78249575 GRCh37 Chromosome 13, 37439889: 37439889
9 SMAD9 NM_001127217.2(SMAD9): c.756T> C (p.His252=) single nucleotide variant Benign/Likely benign rs146836873 GRCh37 Chromosome 13, 37441435: 37441435
10 SMAD9 NM_001127217.2(SMAD9): c.756T> C (p.His252=) single nucleotide variant Benign/Likely benign rs146836873 GRCh38 Chromosome 13, 36867298: 36867298
11 SMAD9 NM_001127217.2(SMAD9): c.743C> A (p.Thr248Lys) single nucleotide variant Benign/Likely benign rs79733377 GRCh37 Chromosome 13, 37441448: 37441448
12 SMAD9 NM_001127217.2(SMAD9): c.743C> A (p.Thr248Lys) single nucleotide variant Benign/Likely benign rs79733377 GRCh38 Chromosome 13, 36867311: 36867311
13 SMAD9 NM_001127217.2(SMAD9): c.603G> T (p.Pro201=) single nucleotide variant Likely benign rs934648707 GRCh37 Chromosome 13, 37446862: 37446862
14 SMAD9 NM_001127217.2(SMAD9): c.603G> T (p.Pro201=) single nucleotide variant Likely benign rs934648707 GRCh38 Chromosome 13, 36872725: 36872725
15 SMAD9 NM_001127217.2(SMAD9): c.781+2T> A single nucleotide variant Uncertain significance rs770716081 GRCh37 Chromosome 13, 37441408: 37441408
16 SMAD9 NM_001127217.2(SMAD9): c.781+2T> A single nucleotide variant Uncertain significance rs770716081 GRCh38 Chromosome 13, 36867271: 36867271

Expression for Pulmonary Hypertension, Primary, 2

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 2.

Pathways for Pulmonary Hypertension, Primary, 2

GO Terms for Pulmonary Hypertension, Primary, 2

Sources for Pulmonary Hypertension, Primary, 2

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