PPH4
MCID: PLM121
MIFTS: 28

Pulmonary Hypertension, Primary, 4 (PPH4)

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

Aliases & Classifications for Pulmonary Hypertension, Primary, 4

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 4:

Name: Pulmonary Hypertension, Primary, 4 57 74 72
Primary Pulmonary Hypertension 4 29 6
Pph4 57 74
Hypertension, Pulmonary, Primary, Type 4 40

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
progressive disorder
variable age at onset (childhood to adulthood)

Inheritance:
autosomal dominant


HPO:

32
pulmonary hypertension, primary, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive incomplete penetrance


Classifications:



External Ids:

MeSH 44 D006976
UMLS 72 C3809198

Summaries for Pulmonary Hypertension, Primary, 4

OMIM : 57 Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). (615344)

MalaCards based summary : Pulmonary Hypertension, Primary, 4, is also known as primary pulmonary hypertension 4. An important gene associated with Pulmonary Hypertension, Primary, 4 is KCNK3 (Potassium Two Pore Domain Channel Subfamily K Member 3). Affiliated tissues include heart, lung and endothelial, and related phenotypes are arrhythmia and pulmonary arterial hypertension

UniProtKB/Swiss-Prot : 74 Pulmonary hypertension, primary, 4: 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.

Related Diseases for Pulmonary Hypertension, Primary, 4

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 4

Human phenotypes related to Pulmonary Hypertension, Primary, 4:

32
# Description HPO Frequency HPO Source Accession
1 arrhythmia 32 occasional (7.5%) HP:0011675
2 pulmonary arterial hypertension 32 HP:0002092
3 increased pulmonary vascular resistance 32 HP:0005317

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
increased pulmonary vascular resistance
plexiform vascular lesions
increased pulmonary artery pressure
pulmonary arteries show medial hypertrophy
pulmonary arterial vascular wall remodeling
more
Cardiovascular Heart:
cardiac arrhythmias (in some patients)

Clinical features from OMIM:

615344

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 4

Search Clinical Trials , NIH Clinical Center for Pulmonary Hypertension, Primary, 4

Genetic Tests for Pulmonary Hypertension, Primary, 4

Genetic tests related to Pulmonary Hypertension, Primary, 4:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 4 29 KCNK3

Anatomical Context for Pulmonary Hypertension, Primary, 4

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 4:

41
Heart, Lung, Endothelial

Publications for Pulmonary Hypertension, Primary, 4

Articles related to Pulmonary Hypertension, Primary, 4:

(show top 50) (show all 100)
# Title Authors PMID Year
1
A novel channelopathy in pulmonary arterial hypertension. 8 71
23883380 2013
2
Heritable Pulmonary Arterial Hypertension 71
20301658 2002
3
Slow magnetic relaxation, antiferromagnetic ordering and metamagnetism in MnII(H2dapsc)-FeIII(CN)6 chain complex with highly anisotropic Fe-CN-Mn spin coupling. 38
31361924 2019
4
Heterometallic 3d-4d coordination polymers assembled from trans-[RuIII(L)(CN)2]- tectons and 3d cations. 38
31204750 2019
5
Homogeneously-catalysed hydrogen release/storage using the 2-methylindole/2-methylindoline LOHC system in molten salt-organic biphasic reaction systems. 38
30687857 2019
6
Synthesis and structural characterisation of unprecedented primary N-nitrosamines coordinated to iridium(iv). 38
30065990 2018
7
The Binary Group 4 Azides [PPh4 ]2 [Zr(N3 )6 ] and [PPh4 ]2 [Hf(N3 )6 ]. 38
27735115 2016
8
The niobium oxoazides [NbO(N3)3], [NbO(N3)3·2CH3CN], [(bipy)NbO(N3)3], Cs2[NbO(N3)5] and [PPh4]2[NbO(N3)5]. 38
27198621 2016
9
Polarized Neutron Diffraction to Probe Local Magnetic Anisotropy of a Low-Spin Fe(III) Complex. 38
26890339 2016
10
Reactivity of a Fe(III)-Bound Methoxide Supported with a Tris(thiolato)phosphine Ligand: Activation of C-Cl Bond in CH2Cl2 by Nucleophilic Attack of a Fe(III)-OCH3 Moiety. 38
26699874 2016
11
Silicon- and Tin-Containing Open-Chain and Eight-Membered-Ring Compounds as Bicentric Lewis Acids toward Anions. 38
26616743 2016
12
The Molybdenum(V) and Tungsten(VI) Oxoazides [MoO(N3 )3 ], [MoO(N3 )3 ⋅2 CH3 CN], [(bipy)MoO(N3 )3 ], [MoO(N3 )5 ](2-) , [WO(N3 )4 ], and [WO(N3 )4 ⋅CH3 CN]. 38
26768534 2015
13
Magneto-Structural Correlations in a Series of Pseudotetrahedral [Co(II)(XR)4](2-) Single Molecule Magnets: An ab Initio Ligand Field Study. 38
26443918 2015
14
The First Molybdenum(VI) and Tungsten(VI) Oxoazides MO2(N3)2, MO2(N3)2⋅2 CH3CN, (bipy)MO2(N3)2, and [MO2(N3)4](2-) (M=Mo, W). 38
26178877 2015
15
The Vanadium(V) Oxoazides [VO(N3)3], [(bipy)VO(N3)3], and [VO(N3)5](2-). 38
26072899 2015
16
Non-oxido divanadium(IV) and divanadium(V) thiolate complexes with a new type of chalcogenide bridging motif. 38
25645817 2015
17
Synthesis, crystal structures and magnetic properties of mer-cyanideiron(III)-based 1D heterobimetallic cyanide-bridged chiral coordination polymers. 38
25661782 2015
18
Synthesis and structural characterization of 3,5-dinitro-1,2,4-triazolates. 38
25615958 2015
19
Water-induced formation, characterization, and photoluminescence of carbon nanotube-based composites of gadolinium(III) and platinum(II) dithiolenes. 38
25331915 2014
20
Synthesis of functional phosphates [P(C2F5)3F2X]- from the phosphorane adduct [P(C2F5)3F2(dmap)]. 38
24986082 2014
21
Preparation of the first manganese(III) and manganese(IV) azides. 38
25044947 2014
22
Sulfur K-edge X-ray absorption spectroscopy and time-dependent density functional theory of arsenic dithiocarbamates. 38
24811926 2014
23
Highly efficient alkane oxidation catalyzed by [Mn(V)(N)(CN)4](2-). Evidence for [Mn(VII)(N)(O)(CN)4](2-) as an active intermediate. 38
24799179 2014
24
Gallium phosphinoarylbisthiolato complexes counteract drug resistance of cancer cells. 38
24413432 2014
25
Synthesis, structure and cation-binding properties of some [4 + 4] metallocyclic MO2(2+) (M = Mo or W) derivatives of 9-phenyl-2,3,7-trihydroxyfluor-6-one. 38
24484205 2014
26
[ReF(6)](2-) : a robust module for the design of molecule-based magnetic materials. 38
24459056 2014
27
Synthesis of five- and six-coordinate tris(pentafluoroethyl)fluorosilicates. 38
24288152 2014
28
Gold(I) and gold(III) trifluoromethyl derivatives. 38
24027236 2013
29
Exploring the interplay between ligand derivatisation and cation type in the assembly of hybrid polyoxometalate Mn-Andersons. 38
23401298 2013
30
Excited-state characteristics of tetracyanidonitridorhenium(V) and -technetium(V) complexes with N-heteroaromatic ligands. 38
23679193 2013
31
Energetic bis(3,5-dinitro-1H-1,2,4-triazolyl)dihydro- and dichloroborates and bis(5-nitro-2H-tetrazolyl)-, bis(5-(trinitromethyl)-2H-tetrazolyl)-, and bis(5-(fluorodinitromethyl)-2H-tetrazolyl)dihydroborate. 38
23614398 2013
32
Unprecedented conformational variability in main group inorganic chemistry: the tetraazidoarsenite and -antimonite salts A+ [M(N3)4]- (A = NMe4, PPh4, (Ph3P)2N; M = As, Sb), five similar salts, five different anion structures. 38
23214472 2013
33
Photoluminescence switching with changes in the coordination number and coordinating volatile organic compounds in tetracyanidonitridorhenium(V) and -technetium(V) complexes. 38
23121620 2012
34
[Blood pressure changes in chronically haemodialysed patients]. 38
22486283 2012
35
Syntheses and crystal structures of the closo-borate M[B8H9] (M = [PPh4]+ and [N(n-Bu4)]+). 38
22136316 2012
36
Thermal stability, optical property, and morphology of flexible organoclay films. 38
22121657 2011
37
Dangling thiyl radical: stabilized in [PPh4]2[(bdt)W(VI)(O)(μ-S)2Cu(I)(SC6H4S•)]. 38
21452808 2011
38
Syntheses and crystal structures of the closo-borates M2[B7H7] and M[B7H8] (M = PPh4, PNP, and N(n-Bu4)): the missing crystal structure in the series [B(n)H(n)]2- (n = 6-12). 38
21341737 2011
39
Efficient olefin epoxidation by robust Re4 cluster-supported Mn(III) complexes with peracids: evidence of simultaneous operation of multiple active oxidant species, Mn(V)=O, Mn(IV)=O, and Mn(III)-OOC(O)R. 38
20235245 2010
40
Organic-soluble optically pure anionic metal complexes PPh4[M(III)(S,S-EDDS)].2H2O (M = Fe, Co, Cr). 38
20200720 2010
41
Ferromagnetic coupled mu-phenoxo-mu-carboxylato heterodinuclear complexes based on the Cr(salen) moiety: structural and magnetic characterization. 38
19759938 2009
42
Synthesis and reactivity of metal carbene complexes with heterobiaryl spacer substituents. 38
19378563 2009
43
Nano-film structures constructed by self-assembly of Co(III) biuretato complexes and long alkyl imidazolium cations. 38
19441312 2009
44
Controlled super-structures of hydrogen bonding Ni(II) complexes organizing one-dimensional double cationic arrays. 38
19441311 2009
45
Molecular and electronic structure of the square planar bis(o-amidobenzenethiolato)iron(III) anion and its bis(o-quinoxalinedithiolato)iron(III) analogue. 38
18989920 2008
46
Assembly of [(eta5-C5Me5)MoS3Cu3]-supported one-dimensional chains with single, double, triple, and quadruple strands. 38
18484718 2008
47
Structural chemistry of (PPh4)2M(WS4)2 materials. 38
18335143 2008
48
Reductive degradation of nido-1-CB8H12 into smaller-cage carborane systems via new monocarbaboranes [arachno-5-CB8H13](-) and closo-2-CB6H8. 38
18512689 2008
49
Construction of [(eta5-C5Me5)MoS3Cu3]-based supramolecular assemblies from the [(eta5-C5Me5)MoS3(CuNCS)3]- cluster anion and multitopic ligands with different symmetries. 38
17629264 2007
50
Penta- and hexaruthenium carbonyl 'raft' complexes supported by monocarborane cage ligands. 38
17602615 2007

Variations for Pulmonary Hypertension, Primary, 4

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 4:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNK3 NM_002246.3(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 2:26950859-26950859 2:26727991-26727991
2 KCNK3 NM_002246.3(KCNK3): c.289G> A (p.Gly97Arg) single nucleotide variant Pathogenic rs398123040 2:26950540-26950540 2:26727672-26727672
3 KCNK3 NM_002246.3(KCNK3): c.661G> C (p.Val221Leu) single nucleotide variant Pathogenic rs398123041 2:26950912-26950912 2:26728044-26728044
4 KCNK3 NM_002246.3(KCNK3): c.544G> A (p.Glu182Lys) single nucleotide variant Pathogenic rs398123042 2:26950795-26950795 2:26727927-26727927
5 KCNK3 NM_002246.3(KCNK3): c.575A> G (p.Tyr192Cys) single nucleotide variant Pathogenic rs398123043 2:26950826-26950826 2:26727958-26727958
6 KCNK3 NM_002246.3(KCNK3): c.23C> A (p.Thr8Lys) single nucleotide variant Pathogenic rs1085307438 2:26915766-26915766 2:26692898-26692898
7 KCNK3 NM_002246.3(KCNK3): c.365T> C (p.Leu122Pro) single nucleotide variant Likely pathogenic rs1553387422 2:26950616-26950616 2:26727748-26727748
8 KCNK3 NM_002246.3(KCNK3): c.832A> T (p.Ser278Cys) single nucleotide variant Uncertain significance rs368524386 2:26951083-26951083 2:26728215-26728215
9 KCNK3 NM_002246.3(KCNK3): c.17T> C (p.Val6Ala) single nucleotide variant Uncertain significance rs1226314697 2:26915760-26915760 2:26692892-26692892
10 KCNK3 NM_002246.3(KCNK3): c.172G> A (p.Gly58Ser) single nucleotide variant Uncertain significance rs753384871 2:26915915-26915915 2:26693047-26693047
11 KCNK3 NM_002246.3(KCNK3): c.1180G> A (p.Val394Met) single nucleotide variant Uncertain significance rs1553387738 2:26951431-26951431 2:26728563-26728563
12 KCNK3 NM_002246.3(KCNK3): c.100G> A (p.Glu34Lys) single nucleotide variant Uncertain significance rs1553383771 2:26915843-26915843 2:26692975-26692975
13 KCNK3 NM_002246.3(KCNK3): c.834C> A (p.Ser278Arg) single nucleotide variant Uncertain significance 2:26951085-26951085 2:26728217-26728217
14 KCNK3 NM_002246.3(KCNK3): c.953G> A (p.Arg318His) single nucleotide variant Uncertain significance 2:26951204-26951204 2:26728336-26728336
15 KCNK3 NM_002246.3(KCNK3): c.547C> T (p.His183Tyr) single nucleotide variant Uncertain significance 2:26950798-26950798 2:26727930-26727930
16 KCNK3 NM_002246.3(KCNK3): c.646_651dup (p.Thr216_Gln217dup) duplication Uncertain significance 2:26950897-26950902 2:26728029-26728034
17 KCNK3 NM_002246.3(KCNK3): c.844A> G (p.Thr282Ala) single nucleotide variant Uncertain significance 2:26951095-26951095 2:26728227-26728227
18 KCNK3 NM_002246.3(KCNK3): c.1169G> A (p.Arg390His) single nucleotide variant Uncertain significance 2:26951420-26951420 2:26728552-26728552
19 KCNK3 NM_002246.3(KCNK3): c.250_267dup (p.Phe84_Thr89dup) duplication Uncertain significance 2:26915993-26916010 2:26693125-26693142
20 KCNK3 NM_002246.3(KCNK3): c.785C> T (p.Ala262Val) single nucleotide variant Uncertain significance 2:26951036-26951036 2:26728168-26728168
21 KCNK3 NM_002246.3(KCNK3): c.618G> A (p.Val206=) single nucleotide variant Uncertain significance 2:26950869-26950869 2:26728001-26728001
22 KCNK3 NM_002246.3(KCNK3): c.903G> A (p.Ala301=) single nucleotide variant Uncertain significance 2:26951154-26951154 2:26728286-26728286
23 KCNK3 NM_002246.3(KCNK3): c.1128G> A (p.Thr376=) single nucleotide variant Uncertain significance 2:26951379-26951379 2:26728511-26728511
24 KCNK3 NM_002246.3(KCNK3): c.283+6G> T single nucleotide variant Uncertain significance 2:26916032-26916032 2:26693164-26693164
25 KCNK3 NM_002246.3(KCNK3): c.1014G> A (p.Thr338=) single nucleotide variant Likely benign rs375930383 2:26951265-26951265 2:26728397-26728397
26 KCNK3 NM_002246.3(KCNK3): c.366C> T (p.Leu122=) single nucleotide variant Likely benign rs61736657 2:26950617-26950617 2:26727749-26727749
27 KCNK3 NM_002246.3(KCNK3): c.423C> A (p.His141Gln) single nucleotide variant Likely benign rs151228365 2:26950674-26950674 2:26727806-26727806
28 KCNK3 NM_002246.3(KCNK3): c.654G> T (p.Pro218=) single nucleotide variant Benign rs34292597 2:26950905-26950905 2:26728037-26728037

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Primary, 4:

74
# Symbol AA change Variation ID SNP ID
1 KCNK3 p.Thr8Lys VAR_070126 rs108530743
2 KCNK3 p.Gly97Arg VAR_070127 rs398123040
3 KCNK3 p.Glu182Lys VAR_070128 rs398123042
4 KCNK3 p.Tyr192Cys VAR_070129 rs398123043
5 KCNK3 p.Gly203Asp VAR_070130 rs398123039
6 KCNK3 p.Val221Leu VAR_070131 rs398123041

Expression for Pulmonary Hypertension, Primary, 4

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 4.

Pathways for Pulmonary Hypertension, Primary, 4

GO Terms for Pulmonary Hypertension, Primary, 4

Sources for Pulmonary Hypertension, Primary, 4

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