Pulmonary Hypertension, Primary, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PPH4 MCID: PLM121 MIFTS: 28	Pulmonary Hypertension, Primary, 4 (PPH4) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Pulmonary Hypertension, Primary, 4

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 4:

Name: Pulmonary Hypertension, Primary, 4 ⁵⁷ ⁷² ⁷⁰

Primary Pulmonary Hypertension 4 ²⁹ ⁶

Pph4 ⁵⁷ ⁷²

Hypertension, Pulmonary, Primary, Type 4 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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

Inheritance:
autosomal dominant

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615344

OMIM Phenotypic Series ⁵⁷ PS178600

MeSH ⁴⁴ D006976

MedGen ⁴¹ C3809198 CN178403

SNOMED-CT via HPO ⁶⁸ 102594003 11399002 252157006 more

UMLS ⁷⁰ C3809198

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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) (Updated 20-May-2021)

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 endothelial, and related phenotypes are arrhythmia and pulmonary arterial hypertension

UniProtKB/Swiss-Prot : ⁷² 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.

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Related Diseases for Pulmonary Hypertension, Primary, 4

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

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Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 4

Human phenotypes related to Pulmonary Hypertension, Primary, 4:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	arrhythmia ³¹	occasional (7.5%)	HP:0011675
2	pulmonary arterial hypertension ³¹		HP:0002092
3	increased pulmonary vascular resistance ³¹		HP:0005317

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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Drugs & Therapeutics for Pulmonary Hypertension, Primary, 4

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Role of Inflammation and Angiogenesis in Chronic Thromboembolic Pulmonary Hypertension	Completed	NCT04472533

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 4

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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

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Anatomical Context for Pulmonary Hypertension, Primary, 4

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

⁴⁰

Endothelial

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Publications for Pulmonary Hypertension, Primary, 4

Articles related to Pulmonary Hypertension, Primary, 4:

(show top 50) (show all 104)

#	Title	Authors	PMID	Year
1	A novel channelopathy in pulmonary arterial hypertension. ⁶ ⁵⁷	Ma L...Chung WK	23883380	2013
2	Cl@Ag22 Au6 (4-TBBT)28 (PPh4 ): A Chloride-Centered Ag-Au Bimetallic Cluster for Optics. ⁶¹	Andrew GN...Luo Z	33047476	2020
3	Trapping of Brønsted acids with a phosphorus-centered biradicaloid - synthesis of hydrogen pseudohalide addition products. ⁶¹	Beer H...Villinger A	32985638	2020
4	Cyanide-Bridged Polynuclear and One-Dimensional FeIII-MnIII/II Bimetallic Complexes Based-on Pentacyanoferrite(III) Building Block: Synthesis, Crystal Structures, and Magnetic Properties. ⁶¹	Hao X...Zhang D	33533419	2020
5	[Cu32(PET)24H8Cl2](PPh4)2: A Copper Hydride Nanocluster with a Bisquare Antiprismatic Core. ⁶¹	Lee S...Hyeon T	32672452	2020
6	Polymorphic Copper Iodide Anions: Luminescence Thermochromism and Mechanochromism of (PPh4)2[Cu2I4]. ⁶¹	Thefioux Y...Perruchas S	32233459	2020
7	The First Organosilver(III) Fluoride, [PPh4 ][(CF3 )3 AgF]. ⁶¹	Joven-Sancho D...Menjon B	31881098	2020
8	Field-induced slow magnetic relaxation in low-spin S = 1/2 mononuclear osmium(v) complexes. ⁶¹	Su QQ...Lau TC	32134093	2020
9	Heterometallic 3d-4d coordination polymers assembled from trans-[RuIII(L)(CN)2]- tectons and 3d cations. ⁶¹	Marinescu G...Andruh M	31204750	2019
10	Homogeneously-catalysed hydrogen release/storage using the 2-methylindole/2-methylindoline LOHC system in molten salt-organic biphasic reaction systems. ⁶¹	Sogaard A...Riisager A	30687857	2019
11	Synthesis and structural characterisation of unprecedented primary N-nitrosamines coordinated to iridium(iv). ⁶¹	Foi A...Klein A	30065990	2018
12	The Binary Group 4 Azides [PPh4 ]2 [Zr(N3 )6 ] and [PPh4 ]2 [Hf(N3 )6 ]. ⁶¹	Deokar P...Haiges R	27735115	2016
13	The niobium oxoazides [NbO(N3)3], [NbO(N3)3·2CH3CN], [(bipy)NbO(N3)3], Cs2[NbO(N3)5] and [PPh4]2[NbO(N3)5]. ⁶¹	Haiges R...Christe KO	27198621	2016
14	Polarized Neutron Diffraction to Probe Local Magnetic Anisotropy of a Low-Spin Fe(III) Complex. ⁶¹	Ridier K...Lescouezec R	26890339	2016
15	Silicon- and Tin-Containing Open-Chain and Eight-Membered-Ring Compounds as Bicentric Lewis Acids toward Anions. ⁶¹	Wendji AS...Jurkschat K	26616743	2016
16	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. ⁶¹	Chang KC...Hsu HF	26699874	2016
17	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]. ⁶¹	Haiges R...Christe KO	26768534	2015
18	Magneto-Structural Correlations in a Series of Pseudotetrahedral [Co(II)(XR)4](2-) Single Molecule Magnets: An ab Initio Ligand Field Study. ⁶¹	Suturina EA...Neese F	26443918	2015
19	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). ⁶¹	Haiges R...Christe KO	26178877	2015
20	The Vanadium(V) Oxoazides [VO(N3)3], [(bipy)VO(N3)3], and [VO(N3)5](2-). ⁶¹	Haiges R...Christe KO	26072899	2015
21	Non-oxido divanadium(IV) and divanadium(V) thiolate complexes with a new type of chalcogenide bridging motif. ⁶¹	Wu HM...Hsu HF	25645817	2015
22	Synthesis, crystal structures and magnetic properties of mer-cyanideiron(III)-based 1D heterobimetallic cyanide-bridged chiral coordination polymers. ⁶¹	Zhang D...Jiang J	25661782	2015
23	Synthesis and structural characterization of 3,5-dinitro-1,2,4-triazolates. ⁶¹	Haiges R...Christe KO	25615958	2015
24	Water-induced formation, characterization, and photoluminescence of carbon nanotube-based composites of gadolinium(III) and platinum(II) dithiolenes. ⁶¹	Begum A...Sarkar S	25331915	2014
25	Synthesis of functional phosphates [P(C2F5)3F2X]- from the phosphorane adduct [P(C2F5)3F2(dmap)]. ⁶¹	Bader J...Hoge B	24986082	2014
26	Preparation of the first manganese(III) and manganese(IV) azides. ⁶¹	Haiges R...Christe KO	25044947	2014
27	Sulfur K-edge X-ray absorption spectroscopy and time-dependent density functional theory of arsenic dithiocarbamates. ⁶¹	Donahue CM...Daly SR	24811926	2014
28	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. ⁶¹	Ma L...Lau TC	24799179	2014
29	Gallium phosphinoarylbisthiolato complexes counteract drug resistance of cancer cells. ⁶¹	Fischer-Fodor E...Silaghi-Dumitrescu L	24413432	2014
30	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. ⁶¹	McCormick LJ...Robson R	24484205	2014
31	Synthesis of five- and six-coordinate tris(pentafluoroethyl)fluorosilicates. ⁶¹	Steinhauer S...Hoge B	24288152	2014
32	[ReF(6)](2-) : a robust module for the design of molecule-based magnetic materials. ⁶¹	Pedersen KS...Bendix J	24459056	2014
33	Gold(I) and gold(III) trifluoromethyl derivatives. ⁶¹	Martinez-Salvador S...Menjon B	24027236	2013
34	Exploring the interplay between ligand derivatisation and cation type in the assembly of hybrid polyoxometalate Mn-Andersons. ⁶¹	Rosnes MH...Cronin L	23401298	2013
35	Excited-state characteristics of tetracyanidonitridorhenium(V) and -technetium(V) complexes with N-heteroaromatic ligands. ⁶¹	Ikeda H...Yoshimura T	23679193	2013
36	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. ⁶¹	Haiges R...Christe KO	23614398	2013
37	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. ⁶¹	Haiges R...Christe KO	23214472	2013
38	Photoluminescence switching with changes in the coordination number and coordinating volatile organic compounds in tetracyanidonitridorhenium(V) and -technetium(V) complexes. ⁶¹	Ikeda H...Shinohara A	23121620	2012
39	[Blood pressure changes in chronically haemodialysed patients]. ⁶¹	Bobocka K...Pontuch P	22486283	2012
40	Syntheses and crystal structures of the closo-borate M[B8H9] (M = [PPh4]+ and [N(n-Bu4)]+). ⁶¹	Schluter F...Bernhardt E	22136316	2012
41	Thermal stability, optical property, and morphology of flexible organoclay films. ⁶¹	Shin J...Chang JH	22121657	2011
42	Dangling thiyl radical: stabilized in [PPh4]2[(bdt)W(VI)(O)(μ-S)2Cu(I)(SC6H4S•)]. ⁶¹	Bose M...Sarkar S	21452808	2011
43	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). ⁶¹	Schluter F...Bernhardt E	21341737	2011
44	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. ⁶¹	Lee SH...Kim SJ	20235245	2010
45	Organic-soluble optically pure anionic metal complexes PPh4[M(III)(S,S-EDDS)].2H2O (M = Fe, Co, Cr). ⁶¹	Chmel NP...Scott P	20200720	2010
46	Ferromagnetic coupled mu-phenoxo-mu-carboxylato heterodinuclear complexes based on the Cr(salen) moiety: structural and magnetic characterization. ⁶¹	Albores P...Rentschler E	19759938	2009
47	Synthesis and reactivity of metal carbene complexes with heterobiaryl spacer substituents. ⁶¹	Lotz S...Bezuidenhout DI	19378563	2009
48	Controlled super-structures of hydrogen bonding Ni(II) complexes organizing one-dimensional double cationic arrays. ⁶¹	Tadokoro M...Miyazato Y	19441311	2009
49	Nano-film structures constructed by self-assembly of Co(III) biuretato complexes and long alkyl imidazolium cations. ⁶¹	Yamada K...Masuda H	19441312	2009
50	Molecular and electronic structure of the square planar bis(o-amidobenzenethiolato)iron(III) anion and its bis(o-quinoxalinedithiolato)iron(III) analogue. ⁶¹	Roy N...Wieghardt K	18989920	2008

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Genes for Pulmonary Hypertension, Primary, 4

Genes related to Pulmonary Hypertension, Primary, 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	1342.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23883380

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Variations for Pulmonary Hypertension, Primary, 4

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

⁶ (show all 47)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCNK3	NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg)	SNV	Pathogenic	60480	rs398123040	GRCh37: 2:26950540-26950540 GRCh38: 2:26727672-26727672
2	KCNK3	NM_002246.3(KCNK3):c.661G>C (p.Val221Leu)	SNV	Pathogenic	60481	rs398123041	GRCh37: 2:26950912-26950912 GRCh38: 2:26728044-26728044
3	KCNK3	NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys)	SNV	Pathogenic	60483	rs398123043	GRCh37: 2:26950826-26950826 GRCh38: 2:26727958-26727958
4	KCNK3	NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys)	SNV	Pathogenic	426049	rs1085307438	GRCh37: 2:26915766-26915766 GRCh38: 2:26692898-26692898
5	KCNK3	NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)	SNV	Pathogenic	60479	rs398123039	GRCh37: 2:26950859-26950859 GRCh38: 2:26727991-26727991
6	KCNK3	NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)	SNV	Likely pathogenic	548009	rs1553387422	GRCh37: 2:26950616-26950616 GRCh38: 2:26727748-26727748
7	KCNK3	NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup)	Duplication	Uncertain significance	592111	rs1558592501	GRCh37: 2:26915990-26915991 GRCh38: 2:26693122-26693123
8	KCNK3	NM_002246.3(KCNK3):c.100G>A (p.Glu34Lys)	SNV	Uncertain significance	474316	rs1553383771	GRCh37: 2:26915843-26915843 GRCh38: 2:26692975-26692975
9	KCNK3	NM_002246.3(KCNK3):c.17T>C (p.Val6Ala)	SNV	Uncertain significance	474319	rs1226314697	GRCh37: 2:26915760-26915760 GRCh38: 2:26692892-26692892
10	KCNK3	NM_002246.3(KCNK3):c.1180G>A (p.Val394Met)	SNV	Uncertain significance	474317	rs1553387738	GRCh37: 2:26951431-26951431 GRCh38: 2:26728563-26728563
11	KCNK3	NM_002246.3(KCNK3):c.781C>A (p.Arg261Ser)	SNV	Uncertain significance	944759		GRCh37: 2:26951032-26951032 GRCh38: 2:26728164-26728164
12	KCNK3	NM_002246.3(KCNK3):c.172G>A (p.Gly58Ser)	SNV	Uncertain significance	474318	rs753384871	GRCh37: 2:26915915-26915915 GRCh38: 2:26693047-26693047
13	KCNK3	NM_002246.3(KCNK3):c.844A>G (p.Thr282Ala)	SNV	Uncertain significance	575685	rs779537390	GRCh37: 2:26951095-26951095 GRCh38: 2:26728227-26728227
14	KCNK3	NM_002246.3(KCNK3):c.1169G>A (p.Arg390His)	SNV	Uncertain significance	576185	rs868278570	GRCh37: 2:26951420-26951420 GRCh38: 2:26728552-26728552
15	KCNK3	NM_002246.3(KCNK3):c.547C>T (p.His183Tyr)	SNV	Uncertain significance	578932	rs1558604738	GRCh37: 2:26950798-26950798 GRCh38: 2:26727930-26727930
16	KCNK3	NM_002246.3(KCNK3):c.834C>A (p.Ser278Arg)	SNV	Uncertain significance	580390	rs750738078	GRCh37: 2:26951085-26951085 GRCh38: 2:26728217-26728217
17	KCNK3	NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup)	Duplication	Uncertain significance	580894	rs1558604795	GRCh37: 2:26950892-26950893 GRCh38: 2:26728024-26728025
18	KCNK3	NM_002246.3(KCNK3):c.283+6G>T	SNV	Uncertain significance	658020	rs369557396	GRCh37: 2:26916032-26916032 GRCh38: 2:26693164-26693164
19	KCNK3	NM_002246.3(KCNK3):c.1067C>A (p.Thr356Lys)	SNV	Uncertain significance	864183		GRCh37: 2:26951318-26951318 GRCh38: 2:26728450-26728450
20	KCNK3	NM_002246.3(KCNK3):c.952C>T (p.Arg318Cys)	SNV	Uncertain significance	618695	rs780914900	GRCh37: 2:26951203-26951203 GRCh38: 2:26728335-26728335
21	KCNK3	NM_002246.3(KCNK3):c.946A>G (p.Lys316Glu)	SNV	Uncertain significance	1002871		GRCh37: 2:26951197-26951197 GRCh38: 2:26728329-26728329
22	KCNK3	NM_002246.3(KCNK3):c.1094G>A (p.Gly365Glu)	SNV	Uncertain significance	1006500		GRCh37: 2:26951345-26951345 GRCh38: 2:26728477-26728477
23	KCNK3	NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)	SNV	Uncertain significance	60482	rs398123042	GRCh37: 2:26950795-26950795 GRCh38: 2:26727927-26727927
24	KCNK3	NM_002246.3(KCNK3):c.991C>T (p.Arg331Trp)	SNV	Uncertain significance	1013806		GRCh37: 2:26951242-26951242 GRCh38: 2:26728374-26728374
25	KCNK3	NM_002246.3(KCNK3):c.28G>A (p.Ala10Thr)	SNV	Uncertain significance	1018829		GRCh37: 2:26915771-26915771 GRCh38: 2:26692903-26692903
26	KCNK3	NM_002246.3(KCNK3):c.1162A>G (p.Met388Val)	SNV	Uncertain significance	1023521		GRCh37: 2:26951413-26951413 GRCh38: 2:26728545-26728545
27	KCNK3	NM_002246.3(KCNK3):c.967T>A (p.Tyr323Asn)	SNV	Uncertain significance	862866		GRCh37: 2:26951218-26951218 GRCh38: 2:26728350-26728350
28	KCNK3	NM_002246.3(KCNK3):c.746T>C (p.Met249Thr)	SNV	Uncertain significance	944079		GRCh37: 2:26950997-26950997 GRCh38: 2:26728129-26728129
29	KCNK3	NM_002246.3(KCNK3):c.872C>T (p.Ala291Val)	SNV	Uncertain significance	948244		GRCh37: 2:26951123-26951123 GRCh38: 2:26728255-26728255
30	KCNK3	NM_002246.3(KCNK3):c.827G>A (p.Gly276Asp)	SNV	Uncertain significance	952122		GRCh37: 2:26951078-26951078 GRCh38: 2:26728210-26728210
31	KCNK3	NM_002246.3(KCNK3):c.832A>T (p.Ser278Cys)	SNV	Uncertain significance	541325	rs368524386	GRCh37: 2:26951083-26951083 GRCh38: 2:26728215-26728215
32	KCNK3	NM_002246.3(KCNK3):c.853G>A (p.Ala285Thr)	SNV	Uncertain significance	935310		GRCh37: 2:26951104-26951104 GRCh38: 2:26728236-26728236
33	KCNK3	NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys)	SNV	Uncertain significance	962756		GRCh37: 2:26915945-26915945 GRCh38: 2:26693077-26693077
34	KCNK3	NM_002246.3(KCNK3):c.275C>T (p.Thr92Ile)	SNV	Uncertain significance	811790	rs1572598853	GRCh37: 2:26916018-26916018 GRCh38: 2:26693150-26693150
35	KCNK3	NM_002246.3(KCNK3):c.1128G>A (p.Thr376=)	SNV	Uncertain significance	645379	rs760241147	GRCh37: 2:26951379-26951379 GRCh38: 2:26728511-26728511
36	KCNK3	NM_002246.3(KCNK3):c.618G>A (p.Val206=)	SNV	Uncertain significance	648112	rs536179160	GRCh37: 2:26950869-26950869 GRCh38: 2:26728001-26728001
37	KCNK3	NM_002246.3(KCNK3):c.785C>T (p.Ala262Val)	SNV	Uncertain significance	653289	rs1341257541	GRCh37: 2:26951036-26951036 GRCh38: 2:26728168-26728168
38	KCNK3	NM_002246.3(KCNK3):c.903G>A (p.Ala301=)	SNV	Uncertain significance	654608	rs1572616675	GRCh37: 2:26951154-26951154 GRCh38: 2:26728286-26728286
39	KCNK3	NM_002246.3(KCNK3):c.456C>T (p.Ala152=)	SNV	Likely benign	704086	rs112956865	GRCh37: 2:26950707-26950707 GRCh38: 2:26727839-26727839
40	KCNK3	NM_002246.3(KCNK3):c.1140C>G (p.Ser380Arg)	SNV	Likely benign	704801	rs753377260	GRCh37: 2:26951391-26951391 GRCh38: 2:26728523-26728523
41	KCNK3	NM_002246.3(KCNK3):c.120G>A (p.Arg40=)	SNV	Likely benign	794692	rs1022064324	GRCh37: 2:26915863-26915863 GRCh38: 2:26692995-26692995
42	KCNK3	NM_002246.3(KCNK3):c.366C>T (p.Leu122=)	SNV	Likely benign	474320	rs61736657	GRCh37: 2:26950617-26950617 GRCh38: 2:26727749-26727749
43	KCNK3	NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val)	SNV	Likely benign	811685	rs773773071	GRCh37: 2:26951348-26951348 GRCh38: 2:26728480-26728480
44	KCNK3	NM_002246.3(KCNK3):c.423C>A (p.His141Gln)	SNV	Likely benign	474321	rs151228365	GRCh37: 2:26950674-26950674 GRCh38: 2:26727806-26727806
45	KCNK3	NM_002246.3(KCNK3):c.1014G>A (p.Thr338=)	SNV	Likely benign	541326	rs375930383	GRCh37: 2:26951265-26951265 GRCh38: 2:26728397-26728397
46	KCNK3	NM_002246.3(KCNK3):c.953G>A (p.Arg318His)	SNV	Benign	569441	rs150626749	GRCh37: 2:26951204-26951204 GRCh38: 2:26728336-26728336
47	KCNK3	NM_002246.3(KCNK3):c.654G>T (p.Pro218=)	SNV	Benign	474322	rs34292597	GRCh37: 2:26950905-26950905 GRCh38: 2:26728037-26728037

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

⁷²

#	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

Sources

Expression for Pulmonary Hypertension, Primary, 4

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

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Pathways for Pulmonary Hypertension, Primary, 4

Sources

GO Terms for Pulmonary Hypertension, Primary, 4

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Sources for Pulmonary Hypertension, Primary, 4

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵⁶ OMIM via Orphanet

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Pulmonary Hypertension, Primary, 4 (PPH4)

Aliases & Classifications for Pulmonary Hypertension, Primary, 4

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 4:

Characteristics:

OMIM®:

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Summaries for Pulmonary Hypertension, Primary, 4

Related Diseases for Pulmonary Hypertension, Primary, 4

Diseases in the Pulmonary Hypertension family:

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 4

Human phenotypes related to Pulmonary Hypertension, Primary, 4:

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Genes related to Pulmonary Hypertension, Primary, 4 (1 elite genes):

Variations for Pulmonary Hypertension, Primary, 4

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

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

Expression for Pulmonary Hypertension, Primary, 4

Pathways for Pulmonary Hypertension, Primary, 4

GO Terms for Pulmonary Hypertension, Primary, 4

Sources for Pulmonary Hypertension, Primary, 4