PPH2
MCID: PLM128
MIFTS: 28

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 57 72 70
Primary Pulmonary Hypertension 2 29 6
Pph2 57 72
Hypertension, Pulmonary, Primary, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
progressive disorder
variable age at onset

Inheritance:
autosomal dominant


HPO:

31
pulmonary hypertension, primary, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive incomplete penetrance


Classifications:



External Ids:

OMIM® 57 615342
OMIM Phenotypic Series 57 PS178600
MeSH 44 D006976
UMLS 70 C3888002

Summaries for Pulmonary Hypertension, Primary, 2

UniProtKB/Swiss-Prot : 72 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, primary, 3 and triiodothyronine receptor auxiliary protein. An important gene associated with Pulmonary Hypertension, Primary, 2 is SMAD9 (SMAD Family Member 9). Affiliated tissues include endothelial and heart, and related phenotypes are pulmonary arterial hypertension and increased pulmonary vascular resistance

More information from OMIM: 615342 PS178600

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 Rare Pulmonary Hypertension

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, primary, 3 10.5
2 triiodothyronine receptor auxiliary protein 9.9

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 2

Human phenotypes related to Pulmonary Hypertension, Primary, 2:

31
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 31 HP:0002092
2 increased pulmonary vascular resistance 31 HP:0005317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
increased pulmonary vascular resistance
pulmonary artery hypertension

Cardiovascular Heart:
right heart failure

Clinical features from OMIM®:

615342 (Updated 20-May-2021)

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 2

Search Clinical Trials , 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 29 SMAD9

Anatomical Context for Pulmonary Hypertension, Primary, 2

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

40
Endothelial, Heart

Publications for Pulmonary Hypertension, Primary, 2

Articles related to Pulmonary Hypertension, Primary, 2:

(show top 50) (show all 322)
# Title Authors PMID Year
1
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. 57 6
21898662 2011
2
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 6 57
21920918 2011
3
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 57 6
19211612 2009
4
Defective pulmonary vascular remodeling in Smad8 mutant mice. 57
19419974 2009
5
Calcium catalyzed enantioselective intramolecular alkene hydroamination with chiral C2-symmetric bis-amide ligands. 61
33594995 2021
6
Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family. 61
32889728 2020
7
Inorganic clusters as metalloligands: ligand effects on the synthesis and properties of ternary nanopropeller clusters. 61
33237061 2020
8
Potent cyclometallated Pd(II) antitumor complexes bearing α-amino acids: synthesis, structural characterization, DNA/BSA binding, cytotoxicity and molecular dynamics simulation. 61
33075117 2020
9
Phosphinoborane interception at magnesium by borane-assisted phosphine-borane dehydrogenation. 61
33107532 2020
10
Experimental study of speciation and mechanistic implications when using chelating ligands in aryl-alkynyl Stille coupling. 61
32766614 2020
11
Impact of structural changes in heteroleptic bismuth phosphinates on their antibacterial activity in Bi-nanocellulose composites. 61
32392274 2020
12
Stable mixed-valence diphenylphosphanido bridged platinum(ii)-platinum(iv) complexes. 61
32232305 2020
13
The phosphinoboration of acyl chlorides. 61
32167110 2020
14
Bis[diphenylphosphino]methane and its bridge-substituted analogues as chemically non-innocent ligands for H2 activation. 61
31970378 2020
15
Consecutive N2 loss from a uranium diphosphazide complex. 61
31808763 2020
16
A new NOTCH3 damaging variant in a thrombocytopenia family of Miao ethnic group. 61
31729093 2019
17
Reactivity of the carbodiphosphorane, (Ph3P)2C, towards main group metal alkyl compounds: coordination and cyclometalation. 61
31145405 2019
18
Reaction of an N/Al FLP-based aluminum hydride toward alkynes: deprotonated alumination versus hydroalumination with regioselective cis-addition character. 61
31147661 2019
19
The syntheses and photophysical properties of PNP-based Au(i) complexes with strong intramolecular AuAu interactions. 61
30762852 2019
20
Palladium-catalysed alkyne alkoxycarbonylation with P,N-chelating ligands revisited: a density functional theory study. 61
30957820 2019
21
(Diphenylphosphino)alkylaldehyde affords hydride- or alkyl-[(diphenylphosphino)alkylacyl]rhodium(iii) or (diphenylphosphino)alkylester complexes: theoretical and experimental diastereoselectivity. 61
30778458 2019
22
Synthesis of a dimeric phosphine-stabilized phosphidogermanium(i)-amidogermanium(ii) derivative. 61
30693929 2019
23
Reversible O-H bond activation by an intramolecular frustrated Lewis pair. 61
30741303 2019
24
Bis(bipyridine) ruthenium(ii) bis(phosphido) metalloligand: synthesis of heterometallic complexes and application to catalytic (E)-selective alkyne semi-hydrogenation. 61
30543236 2019
25
Synthesis of nickel and palladium complexes with diarylamido-based unsymmetrical pincer ligands and application for norbornene polymerization. 61
30534670 2019
26
Synthesis, characterization, and catalytic evaluation of ruthenium-diphosphine complexes bearing xanthate ligands. 61
30226523 2018
27
Chromium complexes supported by the bidentate PN ligands: synthesis, characterization and application for ethylene polymerization. 61
30183787 2018
28
Synthesis and characterization of rhodium, iridium, and palladium complexes of a diarylamido-based PNSb pincer ligand. 61
30091437 2018
29
Regular patterns of the effects of hydrogen-containing additives on the formation of CdSe monomer. 61
30066703 2018
30
Palladium-Catalyzed Direct Arylation of Polyfluoroarenes for Accessing Tetra- ortho-Substituted Biaryls: Buchwald-type Ligand Having Complementary -PPh2 Moiety Exhibits Better Efficiency. 61
29882668 2018
31
The new diphosphanylphosphido complexes of tungsten(vi) and molybdenum(vi). Their synthesis, structures and properties. 61
30014069 2018
32
Acetylacetonato-based pincer-type nickel(ii) complexes: synthesis and catalysis in cross-couplings of aryl chlorides with aryl Grignard reagents. 61
29869657 2018
33
Small bite-angle 2-phosphinophosphinine ligands enable rhodium-catalysed hydroboration of carbonyls. 61
29756624 2018
34
E-H Bond Activation and Insertion Processes in the Reactions of the Unsaturated Hydride [W2Cp2(μ-H)(μ-PPh2)(NO)2]. 61
29411970 2018
35
Chlorophyll, carotenoid and vitamin C metabolism regulation in Actinidia chinensis 'Hongyang' outer pericarp during fruit development. 61
29579114 2018
36
[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. 61
29292447 2018
37
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. 61
29051946 2017
38
Structure and dynamics of heterometallic clusters derived from addition of metal carbonyl fragments to the unsaturated hydride [W2Cp2(μ-H)(μ-PPh2)(NO)2]. 61
29068454 2017
39
BRCA1/2 missense mutations and the value of in-silico analyses. 61
28807866 2017
40
The Elusive Palladium-Diazo Adduct Captured: Synthesis, Isolation and Structural Characterization of [(ArNHC-PPh2 )Pd(η2 -N2 C(Ph)CO2 Et)]. 61
28407417 2017
41
Beryllium Phosphine Complexes: Synthesis, Properties, and Reactivity of (PMe3 )2 BeCl2 and (Ph2 PC3 H6 PPh2 )BeCl2. 61
28004465 2017
42
A hybrid terpyridine-based bis(diphenylphosphino)amine ligand, terpy-C6H4N(PPh2)2: synthesis, coordination chemistry and photoluminescence studies. 61
27819373 2016
43
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. 61
27642661 2016
44
The doubly-bonded ditungsten anion [W2Cp2(μ-PPh2)(NO)2](-): an entry to the chemistry of unsaturated nitrosyl complexes. 61
27476536 2016
45
Adjustable coordination of a hybrid phosphine-phosphine oxide ligand in luminescent Cu, Ag and Au complexes. 61
27530362 2016
46
Oxidative Addition of Disulfides, Alkyl Sulfides, and Diphosphides to an Aluminum(I) Center. 61
27529564 2016
47
Uranium Metalla-Allenes with Carbene Imido R2 C=U(IV) =NR' Units (R=Ph2 PNSiMe3 ; R'=CPh3 ): Alkali-Metal-Mediated Push-Pull Effects with an Amido Auxiliary. 61
27403746 2016
48
Uranium-Carbene-Imido Metalla-Allenes: Ancillary-Ligand-Controlled cis-/trans-Isomerisation and Assessment of trans Influence in the R2 C=U(IV) =NR' Unit (R=Ph2 PNSiMe3 ; R'=CPh3 ). 61
27405793 2016
49
Unexpected formation of a fused double cycle trinuclear gold(i) complex supported by ortho-phenyl metallated aryl-diphosphine ligands and strong aurophilic interactions. 61
27439467 2016
50
Functional Short-Bite Ligands: Synthesis, Coordination Chemistry, and Applications of N-Functionalized Bis(diaryl/dialkylphosphino)amine-type Ligands. 61
27456550 2016

Variations for Pulmonary Hypertension, Primary, 2

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

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD9 NM_005905.6(SMAD9):c.606C>A (p.Cys202Ter) SNV Pathogenic 6515 rs121918359 GRCh37: 13:37446859-37446859
GRCh38: 13:36872722-36872722
2 SMAD9 NM_005905.6(SMAD9):c.127A>G (p.Lys43Glu) SNV Pathogenic 56969 rs397514715 GRCh37: 13:37453700-37453700
GRCh38: 13:36879563-36879563
3 SMAD9 NM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter) SNV Pathogenic 56970 rs397514716 GRCh37: 13:37439797-37439797
GRCh38: 13:36865660-36865660
4 SMAD9 NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) SNV Uncertain significance 213811 rs111748421 GRCh37: 13:37453762-37453762
GRCh38: 13:36879625-36879625
5 SMAD9 NM_001127217.3(SMAD9):c.218G>A (p.Arg73His) SNV Uncertain significance 1019667 GRCh37: 13:37453609-37453609
GRCh38: 13:36879472-36879472
6 SMAD9 NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys) SNV Uncertain significance 1027683 GRCh37: 13:37439727-37439727
GRCh38: 13:36865590-36865590
7 SMAD9 NM_001127217.3(SMAD9):c.1016A>G (p.Tyr339Cys) SNV Uncertain significance 993610 GRCh37: 13:37427800-37427800
GRCh38: 13:36853663-36853663
8 SMAD9 NM_001127217.2(SMAD9):c.781+2T>A SNV Uncertain significance 541761 rs770716081 GRCh37: 13:37441408-37441408
GRCh38: 13:36867271-36867271
9 SMAD9 NM_001127217.2(SMAD9):c.1011C>G (p.His337Gln) SNV Uncertain significance 311898 rs149015682 GRCh37: 13:37427805-37427805
GRCh38: 13:36853668-36853668
10 SMAD9 NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly) SNV Uncertain significance 811870 rs1284819257 GRCh37: 13:37427771-37427771
GRCh38: 13:36853634-36853634
11 SMAD9 NM_005905.6(SMAD9):c.1045A>G (p.Asn349Asp) SNV Uncertain significance 548691 rs142213379 GRCh37: 13:37427660-37427660
GRCh38: 13:36853523-36853523
12 SMAD9 NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys) SNV Uncertain significance 1063362 GRCh37: 13:37447016-37447016
GRCh38: 13:36872879-36872879
13 SMAD9 NM_001127217.2(SMAD9):c.603G>T (p.Pro201=) SNV Likely benign 474935 rs934648707 GRCh37: 13:37446862-37446862
GRCh38: 13:36872725-36872725
14 SMAD9 NM_001127217.3(SMAD9):c.781+18A>G SNV Likely benign 993591 GRCh37: 13:37441392-37441392
GRCh38: 13:36867255-36867255
15 SMAD9 NM_001127217.2(SMAD9):c.788G>A (p.Arg263Gln) SNV Likely benign 213812 rs78249575 GRCh37: 13:37439889-37439889
GRCh38: 13:36865752-36865752
16 SMAD9 NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) SNV Likely benign 213810 rs61753157 GRCh37: 13:37446978-37446978
GRCh38: 13:36872841-36872841
17 SMAD9 NM_001127217.3(SMAD9):c.756T>C (p.His252=) SNV Benign 227077 rs146836873 GRCh37: 13:37441435-37441435
GRCh38: 13:36867298-36867298
18 SMAD9 NM_001127217.2(SMAD9):c.743C>A (p.Thr248Lys) SNV Benign 311902 rs79733377 GRCh37: 13:37441448-37441448
GRCh38: 13:36867311-36867311
19 SMAD9 NM_001127217.2(SMAD9):c.1035G>A (p.Val345=) SNV Benign 311897 rs150237947 GRCh37: 13:37427781-37427781
GRCh38: 13:36853644-36853644
20 SMAD9 NM_001127217.3(SMAD9):c.12C>T (p.Thr4=) SNV Benign 227076 rs78237438 GRCh37: 13:37453815-37453815
GRCh38: 13:36879678-36879678
21 SMAD9 NM_001127217.2(SMAD9):c.828C>T (p.Val276=) SNV Benign 311901 rs142675092 GRCh37: 13:37439849-37439849
GRCh38: 13:36865712-36865712

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

72
# Symbol AA change Variation ID SNP ID
1 SMAD9 p.Lys43Glu VAR_066871 rs397514715

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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