PSHK2
MCID: PSD063
MIFTS: 56

Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak (PSHK2)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

MalaCards integrated aliases for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

Name: Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 57 72 29 13 6 70
Pseudohyperkalemia Cardiff 57 20 72 6 70
Pseudohyperkalemia East London 57 72
Pseudohyperkalemia Chiswick 57 72
Familial Pseudohyperkalemia 58 36
Pseudohyperkalemia Falkirk 57 72
Pseudohyperkalemia Lille 57 72
Cryohydrocytosis, Mild 57 72
Pshk2 57 72
Stomatocytosis, Cold-Sensitive 20
Cryohydrocytosis 20
Hyperkalemia 44

Characteristics:

Orphanet epidemiological data:

58
familial pseudohyperkalemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
'shoulder' pattern of temperature-dependent potassium flux (in some patients)
u-shaped pattern of temperature-dependent potassium flux (in some patients)


HPO:

31
pseudohyperkalemia, familial, 2, due to red cell leak:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 609153
KEGG 36 H02001
MeSH 44 D006947
ICD10 32 E87.5
ICD10 via Orphanet 33 D58.8
UMLS via Orphanet 71 C1836705
Orphanet 58 ORPHA90044
MedGen 41 C1836705
UMLS 70 C1836705 C1861453

Summaries for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

OMIM® : 57 'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. (609153) (Updated 05-Apr-2021)

MalaCards based summary : Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak, also known as pseudohyperkalemia cardiff, is related to pseudohypoaldosteronism, type i, autosomal recessive and hypoaldosteronism. An important gene associated with Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are Ion channel transport and PI3K / Akt Signaling. The drugs Nitric Oxide and Canrenoic acid have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and kidney, and related phenotypes are hyperkalemia and hypertension

KEGG : 36 Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based abnormality in the transport of potassium across the red cell membrane. PSHK is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.

UniProtKB/Swiss-Prot : 72 Pseudohyperkalemia, familial, 2, due to red cell leak: A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.

Related Diseases for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 400)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i, autosomal recessive 31.8 SCNN1G REN NR3C2 KCNJ1
2 hypoaldosteronism 31.7 REN CYP11B2 ACE
3 renal tubular acidosis 31.4 SLC4A1 SCNN1G REN NR3C2
4 metabolic acidosis 31.0 WNK4 WNK1 SLC4A1 SCNN1G
5 cardiac arrest 30.8 REN PIK3C2A ACE
6 acute kidney failure 30.6 REN PIK3C2A MB
7 proteinuria, chronic benign 30.4 REN CLCN5 ACE
8 hypokalemia 30.3 SCN4A REN NR3C2 KCNJ1 ACE
9 kidney disease 30.2 REN NR3C2 CLCN5 AGTR2 ACE
10 congestive heart failure 30.2 REN PIK3C2A NR3C2 CYP11B2 ACE
11 hypercalciuria, absorptive, 2 30.1 KCNJ1 CLCN5
12 acute cystitis 30.1 REN NR3C2 ACE
13 nephrocalcinosis 30.0 SLC4A1 KCNJ1 CLCN5
14 inferior myocardial infarction 30.0 PIK3C2A ACE
15 chronic pyelonephritis 30.0 REN ACE
16 anteroseptal myocardial infarction 30.0 PIK3C2A MB ACE
17 arthrogryposis, distal, type 3 29.9 WNK4 WNK1 REN NR3C2 KCNJ1
18 left bundle branch hemiblock 29.9 REN PIK3C2A NR3C2 ACE
19 pulmonary edema 29.9 REN PIK3C2A ACE
20 vesicoureteral reflux 1 29.8 REN AGTR2 ACE
21 bartter syndrome, type 2, antenatal 29.8 SCNN1G KCNJ1
22 antenatal bartter syndrome 29.8 REN KCNJ1
23 aldosterone-producing adenoma 29.7 CYP21A2 CYP11B2 AGTR2
24 posterior urethral valves 29.7 AGTR2 ACE
25 lipoid congenital adrenal hyperplasia 29.7 REN CYP21A2 CYP11B2
26 angina pectoris 29.7 PIK3C2A MB ACE
27 heart valve disease 29.6 REN NR3C2 ACE
28 systolic heart failure 29.6 NR3C2 CYP11B2 ACE
29 coronary artery vasospasm 29.6 REN PIK3C2A ACE
30 respiratory failure 29.6 SLC4A1 REN PIK3C2A ACE
31 ureteral obstruction 29.5 NR3C2 CLCN5 AGTR2
32 compartment syndrome 29.5 PIK3C2A MB
33 malignant hyperthermia 29.4 SCN4A PIK3C2A MB
34 anuria 29.4 REN PIK3C2A NR3C2 MB ACE
35 pseudohypoaldosteronism 29.4 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
36 hypoadrenocorticism, familial 29.3 REN CYP21A2 CYP11B2
37 acute kidney tubular necrosis 29.2 REN PIK3C2A MB ACE
38 conn's syndrome 28.9 REN NR3C2 CYP21A2 CYP11B2 ACE
39 bartter disease 28.8 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
40 myocardial infarction 28.8 REN PIK3C2A NR3C2 MB CYP11B2 AGTR2
41 heart disease 28.5 REN PIK3C2A NR3C2 MB CYP11B2 AGTR2
42 hypertension, essential 27.6 WNK4 WNK1 SCNN1G REN PIK3C2A NR3C2
43 stomatin-deficient cryohydrocytosis with neurologic defects 11.6
44 cryohydrocytosis 11.6
45 pseudohypoaldosteronism, type iie 11.6
46 pseudohypoaldosteronism, type iia 11.4
47 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
48 pseudohypoaldosteronism, type iid 11.0
49 hyperkalemic periodic paralysis 11.0
50 corticosterone methyloxidase deficiency 11.0

Graphical network of the top 20 diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:



Diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Symptoms & Phenotypes for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Human phenotypes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 stomatocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004446
4 reticulocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001923
5 increased mean corpuscular volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0005518
6 episodic hemolytic anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004802
7 generalized muscle weakness 31 HP:0003324
8 periodic paralysis 31 HP:0003768
9 hand tremor 31 HP:0002378
10 muscle spasm 31 HP:0003394

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
normal red cell morphology
no significant hemolysis
increased passive permeability of potassium through red cell membrane at reduced temperatures
unchanged passive permeability of sodium through red cell membrane at reduced temperatures
macrocytosis after 24 hours on ice (in some patients)

Laboratory Abnormalities:
elevated serum potassium in blood stored at less than 37 degrees centigrade
normal serum potassium in blood tested immediately after drawing

Clinical features from OMIM®:

609153 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 ACE AGTR2 CLCN5 CYP11B2 CYP21A2 KCNJ1
2 cardiovascular system MP:0005385 10.14 ACE AGTR2 CYP11B2 KCNJ1 MB NR3C2
3 homeostasis/metabolism MP:0005376 10.13 ABCB6 ACE AGTR2 CLCN5 CYP11B2 KCNJ1
4 hematopoietic system MP:0005397 10.1 ABCB6 ACE AGTR2 CYP11B2 CYP21A2 KCNJ1
5 mortality/aging MP:0010768 9.97 ABCB6 ACE AGTR2 CYP21A2 KCNJ1 MB
6 muscle MP:0005369 9.5 AGTR2 MB NR3C2 REN SCN4A SLC4A1
7 renal/urinary system MP:0005367 9.4 ACE AGTR2 CLCN5 CYP11B2 KCNJ1 NR3C2

Drugs & Therapeutics for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Drugs for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
Canrenoic acid Approved, Withdrawn Phase 4 4138-96-9
3
Mycophenolic acid Approved Phase 4 24280-93-1 446541
4 Cranberry Approved, Investigational Phase 4
5
Insulin aspart Approved Phase 4 116094-23-6 16132418
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Sorbitol Approved Phase 4 50-70-4 5780
8 Locust bean gum Phase 4
9 Polyethylene glycol 3350 Phase 4
10 Cathartics Phase 4
11 Laxatives Phase 4
12 Gastrointestinal Agents Phase 4
13 Adrenergic beta-Agonists Phase 4
14 Respiratory System Agents Phase 4
15 Anti-Asthmatic Agents Phase 4
16 Albuterol Phase 4
17 Neurotransmitter Agents Phase 4
18 insulin Phase 4
19 Adrenergic Agents Phase 4
20 Tocolytic Agents Phase 4
21 Hypoglycemic Agents Phase 4
22 Adrenergic Agonists Phase 4
23 Bronchodilator Agents Phase 4
24 Insulin, Globin Zinc Phase 4
25 Polystyrene sulfonic acid Phase 4
26 Chelating Agents Phase 4
27
tannic acid Approved Phase 3 1401-55-4
28
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
29
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
30
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
31
Losartan Approved Phase 3 114798-26-4 3961
32 Cardiotonic Agents Phase 3
33 Anti-Arrhythmia Agents Phase 3
34 Angiotensin-Converting Enzyme Inhibitors Phase 3
35 Giapreza Phase 3
36 Protective Agents Phase 3
37 Antihypertensive Agents Phase 3
38 Angiotensin Receptor Antagonists Phase 3
39
protease inhibitors Phase 3
40 Angiotensinogen Phase 3
41 HIV Protease Inhibitors Phase 3
42 Angiotensin II Type 1 Receptor Blockers Phase 3
43
Eplerenone Approved Phase 2 107724-20-9 443872 150310
44
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
45 Secretagogues Phase 2
46 Sodium Potassium Chloride Symporter Inhibitors Phase 2
47
Tacrolimus Approved, Investigational Phase 1 104987-11-3 6473866 445643 439492
48
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
49
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
50 Immunosuppressive Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Effect of Aldosterone Antagonism in the Reduction of Albuminuria and Diastolic Disfunction of Patients With Diabetic Nephropathy. Unknown status NCT00870402 Phase 4 Spironolactone;Placebo
2 Mineralocorticoid Receptor Antagonism Clinical Evaluation in Atherosclerosis Add-On Unknown status NCT03597035 Phase 4 Spironolactone
3 Phase 4 Study on the Comparison Between Combined Versus Sequential Diuretic Treatment of Moderate Ascites in Nonazotemic Patients With Cirrhosis Completed NCT00741663 Phase 4 Spironolactone and furosemide;Spironolactone and furosemide
4 Relypsa For ED Acute Hyperkalemia Control and Reduction (REDUCE) Completed NCT02933450 Phase 4 Patiromer 25.2 g
5 Pharmacokinetic Study of Tacrolimus and Mycophenolate Mofetil in Kidney Transplant Recipients With Hyperkalemia Receiving Patiromer Completed NCT03229265 Phase 4 Patiromer
6 The Effect of Food: An Open-Label, Randomized, Parallel Group Phase 4 Study of the Efficacy and Safety of Patiromer for Oral Suspension With or Without Food for the Treatment of Hyperkalemia (TOURMALINE) Completed NCT02694744 Phase 4 patiromer
7 Efficacy of Sodium Polystyrene Sulfonate in the Treatment of Hyperkaliemia in Ambulatory Pre-dialysis Outpatients : a Randomized Triple-blind Placebo-controlled Trial Completed NCT02065076 Phase 4 Sodium polystyrene sulfonate;Lactose with carob gum
8 Comparison of Potassium Binders in the ER Recruiting NCT04585542 Phase 4 Polyethylene Glycol 3350;Sodium Polystyrene Sulfonate Oral Suspension [SPS];Patiromer;Sodium zirconium cyclosilicate
9 A Randomized, Double-blind, Placebo Controlled, Parallel, Multicenter Study of the Effects of 12-weeks of Sodium Zirconium Cyclosilicate (Lokelma) on Albuminuria (UACR) in Patients With Type 2 Diabetes and Hyperkalemia Recruiting NCT04063930 Phase 4 LOKELMA 5 GM Powder for Oral Suspension;Placebos
10 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Phase 4 Study of the Efficacy & Safety of Patiromer for Oral Suspension in Combination With Standard of Care Treatment in ED Patients With Hyperkalemia Recruiting NCT04443608 Phase 4 Patiromer Powder for Oral Suspension [Veltassa];Placebo
11 InSaKa Trial: Insulin Dextrose Infusion Versus Nebulized Salbutamol Versus Combination of Salbutamol and Insulin Dextrose in Acute Hyperkalemia: a Randomized Clinical Trial Recruiting NCT04012138 Phase 4 Salbutamol;Insulin Aspart
12 Arrhythmia Prevention in High Risk Cardiovascular Patients Using Targeted Potassium Levels Recruiting NCT03833089 Phase 4
13 Phase IV, Double-Blind, Placebo-Controlled, Randomized-Withdrawal Trial Evaluating Sodium Zirconium Cyclosilicate (SZC) for the Management of Hyperkalaemia in Patients With Symptomatic Heart Failure With Reduced Ejection Fraction and Receiving Spironolactone Recruiting NCT04676646 Phase 4 Sodium zirconium cyclosilicate;Placebo
14 Use of Patiromer to Transition Chronic Kidney Disease Patients With Hyperkalemia to a Plant-rich Diet. Active, not recruiting NCT03183778 Phase 4 Patiromer
15 Patiromer Efficacy to Reduce Episodic Hyperkalemia in End Stage Renal Disease Patients Treated With Hemodialysis (PEARL-HD) Enrolling by invitation NCT03781089 Phase 4 Patiromer Oral Powder Product
16 A Phase 4, Single-center, Prospective, Double-blind, Placebo-controlled, Randomized Study to Investigate the Safety and Efficacy of Sodium Polystyrene Sulfonate (SPS) in Subjects With Hyperkalemia. Terminated NCT01866709 Phase 4 Sodium polystyrene sulfonate;Silicified microcrystalline cellulose
17 Spironolactone in the Treatment of Hidradenitis Suppurativa: A Prospective, Open-Label Proof-of-Concept and Dose-Ranging Study Withdrawn NCT04100083 Phase 4 Spironolactone 50 MG;Spironolactone 100mg;Spironolactone 200 mg
18 A Two-Part, Single-Blind, Phase 3 Study Evaluating the Efficacy and Safety of Patiromer for the Treatment of Hyperkalemia Completed NCT01810939 Phase 3 Patiromer;Placebo
19 A Phase 3 Multicenter Open-label Maintenance Study to Investigate the Long-term Safety of ZS (Sodium Zirconium Cyclosilicate) in Japanese Subjects With Hyperkalemia Completed NCT03172702 Phase 3 Zirconium Cyclosilicate
20 A Phase 2/3 Multicenter, Dose-response Study to Assess Efficacy and Safety of ZS (Sodium Zirconium Cyclosilicate), in Japanese Patients With Hyperkalemia Completed NCT03127644 Phase 2, Phase 3 Sodium Zirconium Cyclosilicate (ZS) 5g;Sodium Zirconium Cyclosilicate (ZS) 10g;Placebo
21 Multicenter, Multi-Dose, Open-Label Maintenance of Long-Term Safety and Efficacy of Sodium Zirconium Cyclosilicate (ZS) in Hyperkalemia Completed NCT02163499 Phase 3 Sodium Zirconium Cyclosilicate
22 Multicenter, Multi-phase, Multi-dose, Prospective, Double-blind, Placebo-controlled, Maintenance Study of Safety and Efficacy of ZS (Microporous, Fractionated, Protonated Zirconium Silicate) in Hyperkalemia. Completed NCT02088073 Phase 3 Sodium zirconium cyclosilicate;Placebo
23 A Phase 3 Multicenter, Prospective, Randomized, Double-blind, Placebo-controlled Study to Investigate the Safety and Efficacy of ZS, in Patients With Hyperkalemia-HARMONIZE Global Completed NCT02875834 Phase 3 Sodium Zirconium Cyclosilicate (ZS) 10g;Sodium Zirconium Cyclosilicate (ZS) 5g;Sodium Zirconium Cyclosilicate (ZS) 10g;Placebo
24 A Phase 3b, Multicenter, Prospective, Randomized, Double Blind, Placebocontrolled Study to Reduce Incidence of Pre-dialysis Hyperkalemia With Sodium Zirconium Cyclosilicate (DIALIZE) Completed NCT03303521 Phase 3 Placebo;Sodium Zirconium Cyclosilicate (ZS)
25 Open-label Extension to Study ZS-004 [Phase 3 Multicenter, Multi-phase, Multi-dose, Prospective, Randomized, Double-blind, Placebo-controlled Maintenance Study of Safety Efficacy of ZS (Sodium Zirconium Cycolsilicate) in Hyperkalemia.] Completed NCT02107092 Phase 3 Sodium Zirconium Cyclosilicate
26 Multicenter, Two-phase, Multi-dose, Prospective, Randomized, Double-blind, Placebo-Controlled Study of Safety and Efficacy of Microporous, Fractionated, Protonated Zirconium Silicate in Mild to Moderate Hyperkalemia Completed NCT01737697 Phase 3 Zirconium silicate (acute phase);Zirconium silicate (subacute phase);Placebo (acute phase);Placebo ( subacute phase)
27 A Multicenter, Double-blind, Placebo-controlled, Randomized Withdrawal, Parallel Group Study of Patiromer for the Management of Hyperkalemia in Subjects Receiving Renin Angiotensin Aldosterone System Inhibitor (RAASi) Medications for the Treatment of Heart Failure (DIAMOND) Recruiting NCT03888066 Phase 3 Patiromer;Placebos
28 A Randomized Pilot Study of Hemodialysis Initiation Comparing Twice-Weekly Hemodialysis Plus Dialysis-Sparing Therapy Versus Thrice-Weekly Hemodialysis (The TWOPLUS-HD Trial) Recruiting NCT03740048 Phase 3 Patiromer Oral Product
29 A Phase 3b, Multicentre, Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Reduce Incidence of Pre-Dialysis Hyperkalaemia With Sodium Zirconium Cyclosilicate in Chinese Subjects Recruiting NCT04217590 Phase 3 Sodium Zirconium Cyclosilicate;Placebo
30 A Phase 3, Dose-Escalating Study in Children With Hyperkalaemia Between Birth and <18 Years of Age to Evaluate Increasing Doses of Sodium Zirconium Cyclosilicate (SZC) Given Three Times Daily for the Correction of Hyperkalaemia and the Effectiveness of the Same Dose of SZC Given Once Daily to Maintain Normokalaemia Among Those Requiring Continuous Treatment. Active, not recruiting NCT03813407 Phase 3 Sodium Zirconium Cyclosilicate (SZC) Reduced Dose Level;Sodium Zirconium Cyclosilicate (SZC) Dose Level 1 (DL1);Sodium Zirconium Cyclosilicate (SZC) Dose Level 2 (DL2);Sodium Zirconium Cyclosilicate (SZC) Dose Level 3 (DL3);Sodium Zirconium Cyclosilicate (SZC) Dose During 28 Day Maintenance Phase
31 A Double-blind Randomized Placebo-controlled Parallel Design Multicenter Phase IIIb Study of the Effect of Sodium Zirconium Cyclosilicate (SZC) on Serum Potassium and Serum Bicarbonate in Patients With Hyperkalemia and Metabolic Acidosis Associated With Chronic Kidney Disease (NEUTRALIZE) Not yet recruiting NCT04727528 Phase 3 Sodium zirconium cyclosilicate;Placebo
32 A Phase 3 Multicenter, Prospective, Randomized, Double-blind, Placebo-controlled Study to Investigate the Safety and Efficacy of ZS (Sodium Zirconium Cyclosilicate), in Patients With Hyperkalemia-HARMONIZE Asia Not yet recruiting NCT03528681 Phase 3 Sodium Zirconium Cyclosilicate 5g;Sodium Zirconium Cyclosilicate 10g;Placebo
33 CSP #565 - Combination Angiotensin Receptor Blocker and Angiotensin Converting Enzyme Inhibitor for Treatment of Diabetic Nephropathy (VA NEPHRON-D Study) Terminated NCT00555217 Phase 3 losartan;lisinopril
34 Impact on Mortality of the Timing of Renal Replacement Therapy in Patients With Severe Acute Kidney Injury in Septic Shock: the IDEAL-ICU Study (Initiation of Dialysis Early Versus Delayed in the Intensive Care Unit): Study Protocol for a Randomized Controlled Trial Terminated NCT01682590 Phase 3
35 The Effects of Patiromer on Serum Potassium Level and Gut Microbiome of End Stage Renal Disease Patients With Hyperkalemia Unknown status NCT03326583 Phase 2 Patiromer
36 A Multicenter, Open-Label, Single-Arm Study to Evaluate a Titration Regimen for Patiromer in Heart Failure Patients With Chronic Kidney Disease Completed NCT01130597 Phase 2 patiromer;spironolactone
37 A Multicenter, Randomized, Double-blind, Placebo-Controlled, Parallel-Group, Multiple-Dose Study to Evaluate the Effects of Patiromer in Heart Failure Patients Completed NCT00868439 Phase 2 patiromer;placebo
38 ZG-801 Phase II Trial - Exploratory Study of Efficacy and Safety on Patients With Hyperkalemia, and Long Term Safety Study - Completed NCT03799926 Phase 2 patiromer;patiromer;placebo;placebo;patiromer;patiromer;patiromer;patiromer
39 Multicenter, Prospective, Randomized, Placebo-Controlled, Double-blind Dose Escalating Study of Safety, Tolerability and Pharmacodynamics of Zirconium Silicate in Chronic Kidney Disease and Moderate Kidney Dysfunction With Mild Hyperkalemia Completed NCT01493024 Phase 2 Zirconium silicate (ZS);Placebo
40 A Multicenter, Randomized, Open-Label, Dose Ranging Study to Evaluate the Efficacy and Safety of Patiromer in the Treatment of Hyperkalemia in Patients With Hypertension and Diabetic Nephropathy Receiving Angiotensin-converting Enzyme Inhibitor (ACEI) and/or Angiotensin II Receptor Blocker (ARB) Drugs, With or Without Spironolactone Completed NCT01371747 Phase 2 patiromer;patiromer;patiromer;patiromer;patiromer;patiromer;losartan;spironolactone
41 A Randomized, Double-Blind, Placebo Controlled, Parallel Group Study of Patiromer for the Enablement of Spironolactone Use for Blood Pressure Control in Patients With Resistant Hypertension and Chronic Kidney Disease Completed NCT03071263 Phase 2 Patiromer;Placebo;Spironolactone
42 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate a Potassium Normalization Treatment Regimen Including Sodium Zirconium Cyclosilicate (ENERGIZE) Completed NCT03337477 Phase 2 Placebo;Sodium Zirconium Cyclosilicate(ZS);Insulin;Glucose;Insulin;Glucose
43 A Two-Part Proof-of-Concept Study: An Open-Label Dose-Ranging Phase (Part A) Followed by a Randomized, Single-Blind, Placebo-Controlled Phase (Part B) Evaluating the Safety and Efficacy of RDX013 for the Treatment of Hyperkalemia Recruiting NCT04780841 Phase 2 RDX013;Placebo
44 A Phase 2, Open-Label, Multiple Dose Study to Evaluate the Pharmacodynamic Effects, Safety, and Tolerability of Patiromer for Oral Suspension in Children and Adolescents 2 to < 18 Years of Age With Chronic Kidney Disease and Hyperkalemia Recruiting NCT03087058 Phase 2 Patiromer;Patiromer;Patiromer
45 OPtimizing Aldosterone Receptor Antagonist Therapy by Sodium Zirconium Cyclosilicate in Heart Failure - Efficacy and Safety of Sodium Zirconium Cyclosilicate in Optimizing Mineralocorticoid Receptor Antagonists Therapy in Heart Failure Not yet recruiting NCT04789239 Phase 2 Sodium zirconium cyclosilicate
46 A Randomized Cross-over Trial Evaluating the Efficacy of Diuretics for Symptomatic Malignant Ascites Episodes in Advanced Palliative Stage of Cancer Terminated NCT02501213 Phase 2 Spironolactone (+/- Furosemide)
47 A Single-Blind, Placebo-Controlled Study Evaluating the Onset-of-Action, Safety, and Efficacy of RDX227675 for the Treatment of Hyperkalemia Terminated NCT03018067 Phase 2 RDX227675;Placebo
48 An Open-Label, Multiple Dose Study to Evaluate the Pharmacology, Safety, and Tolerability of Patiromer in Hemodialysis Patients Terminated NCT02033317 Phase 2 patiromer
49 A Single-center Safety and Pharmacodynamic Study of Healthy Chinese Subjects Administered Sodium Zirconium Cyclosilicate (ZS) Completed NCT03283267 Phase 1 Sodium Zirconium Cyclosilicate (ZS)
50 Combined Dietary Intervention in Hyperkalemic CKD Patients With Potassium Binder (With Hyperkalemia) (DiPo Trial) Not yet recruiting NCT04727840 Phase 1 Sodium Zirconium Cyclosilicate Oral Product

Search NIH Clinical Center for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Cochrane evidence based reviews: hyperkalemia

Genetic Tests for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Genetic tests related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

# Genetic test Affiliating Genes
1 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 29 ABCB6

Anatomical Context for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

MalaCards organs/tissues related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

40
Whole Blood, Heart, Kidney, Liver, Endothelial

Publications for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Articles related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 57 6 61
24947683 2014
2
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 6 57 61
23180570 2013
3
Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form. 57 6
15142123 2004
4
Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. 6 57
11918557 2002
5
Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis. 6 57
11442486 2001
6
Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis. 57 6
10554820 1999
7
A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. 6 57
10050708 1999
8
Temperature sensitivity of potassium flux into red blood cells in the familial pseudohyperkalaemia syndrome. 6 57
2998465 1985
9
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 6
16227998 2005
10
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 57
15470366 2004
11
Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane. 57
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Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family. 6
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[Pseudo-hyperkalemia. Apropos of a familial case]. 57
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Altered erythrocyte cation permeability in familial pseudohyperkalaemia. 6
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Possible screening test for familial pseudohyperkalaemia. 57
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Familial pseudohyperkalaemia. A new syndrome. 57
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Stumped by Potassium: A Rare Case of Familial Pseudohyperkalemia. 61
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Hereditary stomatocytosis: An underdiagnosed condition. 61
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The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells. 61
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New insights on hereditary erythrocyte membrane defects. 61
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Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. 61
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Effect of prophylactic treatment with low-molecular-weight heparin bemiparin sodium on serum potassium levels: a prospective observational study. 54
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Potassium homeostasis and renin-angiotensin-aldosterone system inhibitors. 54
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ACE inhibitor and angiotensin II type 1 receptor antagonist therapies in elderly patients with diabetes mellitus: are they underutilized? 54
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Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity. 54
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Aldosterone in uremia - beyond blood pressure. 54
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New roles for renal potassium channels. 54
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Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 54
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Role of aldosterone in the progression of chronic kidney disease and potential use of aldosterone blockade in children. 54
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WNK kinases and blood pressure control. 54
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A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis. 61
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Mechanism of regulation of renal ion transport by WNK kinases. 54
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Domains of WNK1 kinase in the regulation of ROMK1. 54
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Molecular physiology of the WNK kinases. 54
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Variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

ClinVar genetic disease variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB6 NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) SNV Pathogenic 218179 rs754667801 GRCh37: 2:220080749-220080749
GRCh38: 2:219216027-219216027
2 ABCB6 NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) SNV Pathogenic 218180 rs764893806 GRCh37: 2:220080750-220080750
GRCh38: 2:219216028-219216028
3 ABCB6 NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) SNV Pathogenic 218181 rs148211042 GRCh37: 2:220075521-220075521
GRCh38: 2:219210799-219210799
4 SLC4A1 NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) SNV Pathogenic 218184 rs863225463 GRCh37: 17:42330737-42330737
GRCh38: 17:44253369-44253369
5 SLC4A1 NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) SNV Pathogenic 218182 rs863225461 GRCh37: 17:42330606-42330606
GRCh38: 17:44253238-44253238
6 SLC4A1 NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) SNV Pathogenic 218183 rs863225462 GRCh37: 17:42330596-42330596
GRCh38: 17:44253228-44253228
7 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708
8 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) SNV Likely pathogenic 17756 rs45562031 GRCh37: 17:42338993-42338993
GRCh38: 17:44261625-44261625
9 CLCN5 NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer) Deletion Likely pathogenic 523319 rs1557194090 GRCh37: X:49851521-49851521
GRCh38: X:50086864-50086864
10 SLC4A1 NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) SNV Likely pathogenic 931021 GRCh37: 17:42335483-42335483
GRCh38: 17:44258115-44258115
11 COL4A4 NM_000092.4(COL4A4):c.3055G>C (p.Glu1019Gln) SNV Uncertain significance 374041 rs1057518854 GRCh37: 2:227915788-227915788
GRCh38: 2:227051072-227051072
12 COL4A4 NM_000092.4(COL4A4):c.4217-15T>C SNV Uncertain significance 255039 rs200926310 GRCh37: 2:227877028-227877028
GRCh38: 2:227012312-227012312

UniProtKB/Swiss-Prot genetic disease variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

72
# Symbol AA change Variation ID SNP ID
1 ABCB6 p.Arg375Gln VAR_071133 rs754667801
2 ABCB6 p.Arg375Trp VAR_071134 rs764893806
3 ABCB6 p.Arg723Gln VAR_076206 rs148211042

Expression for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Search GEO for disease gene expression data for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak.

Pathways for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

GO Terms for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Cellular components related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.5 WNK4 WNK1 SLC4A1 SCNN1G SCN4A REN

Biological processes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.75 REN AGTR2 ACE
2 chloride transport GO:0006821 9.7 WNK4 SLC4A1 CLCN5
3 regulation of blood pressure GO:0008217 9.67 REN AGTR2 ACE
4 regulation of blood vessel diameter GO:0097746 9.58 AGTR2 ACE
5 sodium ion homeostasis GO:0055078 9.57 SCNN1G CYP11B2
6 amyloid-beta metabolic process GO:0050435 9.56 REN ACE
7 positive regulation of systemic arterial blood pressure GO:0003084 9.55 WNK1 ACE
8 angiotensin maturation GO:0002003 9.54 REN ACE
9 glucocorticoid biosynthetic process GO:0006704 9.51 CYP21A2 CYP11B2
10 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.48 WNK4 WNK1
11 positive regulation of potassium ion import GO:1903288 9.46 WNK4 WNK1
12 negative regulation of sodium ion transport GO:0010766 9.43 WNK4 WNK1
13 excretion GO:0007588 9.43 SCNN1G KCNJ1 CLCN5
14 negative regulation of pancreatic juice secretion GO:0090188 9.4 WNK4 WNK1
15 mineralocorticoid biosynthetic process GO:0006705 9.37 CYP21A2 CYP11B2
16 renin-angiotensin regulation of aldosterone production GO:0002018 9.32 REN AGTR2
17 ion transport GO:0006811 9.17 WNK4 WNK1 SLC4A1 SCNN1G SCN4A KCNJ1
18 regulation of cellular process GO:0050794 9.16 WNK4 WNK1
19 ion homeostasis GO:0050801 9.13 WNK4 WNK1 SLC4A1

Molecular functions related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 9.16 WNK4 WNK1
2 potassium channel inhibitor activity GO:0019870 8.96 WNK4 WNK1
3 heme binding GO:0020037 8.92 MB CYP21A2 CYP11B2 ABCB6

Sources for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

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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