ORPHA:90044
Familial pseudohyperkalemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,403
Trials
0
Interventional, condition-specific
Researchers
444
Distinct authors in sample
Gene link
ABCB6
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37 C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012204
- MeSH:C563785
- OMIM:609153
- UMLS:C1836705
Additional Mondo synonyms (2)
PSHK2 · pseudohyperkalemia, familial, 2, due to red cell leak
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — ABCB6
- LiteraturePresent
1,403 matched papers (956 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Stomatocytosis; Increased mean corpuscular volume; Episodic hemolytic anemia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for ABCB6.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
12
Associated phenotypes · MONDO:0012204
- Stomatocytosis
- Increased mean corpuscular volume
- Episodic hemolytic anemia
- Hyperkalemia
- Hypertension
Showing 5 of 12 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,403
1,403 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,403 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
956 in the last 10 years · low confidence
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
444
Distinct author names in 74 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Iolascon A16 papers · 2023
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Papers in Europe PMC - 02Andolfo I12 papers · 2023
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Papers in Europe PMC - 03Russo R10 papers · 2023
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Papers in Europe PMC - 04Alper SL6 papers · 2022
Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Papers in Europe PMC - 05Brugnara C6 papers · 2021
Department of Laboratory Medicine, Boston Children's Hospital, Boston, 02115, MA, USA.
Papers in Europe PMC - 06Delaunay J6 papers · 2013
Hôpital de Bicêtre, Assistance Publique Hôpitaux de Paris, and INSERM U 473, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 07Bruce LJ5 papers · 2022
Bristol Institute for Transfusion Sciences, NHS Blood and Transplant, Bristol, United Kingdom.
Papers in Europe PMC - 08De Franceschi L4 papers · 2021
Department of Medicine, University of Verona and Azienda Ospedaliera Universitaria Verona, Policlinico GB Rossi, Verona, Italy.
Papers in Europe PMC - 09Flatt JF4 papers · 2021
Bristol Institute for Transfusion Sciences, NHS Blood and Transplant, Bristol, United Kingdom.
Papers in Europe PMC - 10Gallagher PG4 papers · 2017
Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (60)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-525106-37-00·Authorised·Comparative study of two vaccination schedules for the subunit Herpes Zoster vaccine in Multiple Sclerosis and Neuromyelitis optica spectrum disease patients treated with anti-CD20 therapy: an open-label randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525933-22-00·Authorised·STRategiEs for Antiplatelet Management foLlowIng acute coroNary syndromE (STREAMLINE)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525484-40-00·Authorised·A Phase 1 Study of PRT12396 in Participants with Select Myeloproliferative Neoplasms
skipped — LLM skipped (--skip-llm)
- ctis·2026-526368-18-00·Authorised·A Randomized Controlled Study Evaluating Short-Term Dual Antiplatelet Therapy with Low-Dose Ticagrelor (60 mg) Followed by Monotherapy versus Standard-Duration Dual Antiplatelet Therapy with Clopidogrel in Patients with Chronic Coronary Syndrome Undergoing Percutaneous Coronary Intervention: the STELAR trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524233-45-00·Authorised·A first-in-human, randomized, double-blind, placebo-controlled, 3-part study assessing the safety, tolerability, pharmacodynamics and pharmacokinetics of GL0071 after single and repeated ascending subcutaneous doses in healthy normal weight, overweight and obese participants, as well as a 12-week treatment randomized, double blind, placebo-controlled exploratory Proof-of-Concept study in overweight and obese participants.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522757-19-00·Authorised·A Cancer Research UK Phase II trial of CY-101 given via intratumoural administration in locally advanced or metastatic adrenocortical carcinoma (CLARITY)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524816-13-00·Authorised·A Phase 2 Study Evaluating the Safety and Efficacy of Neoadjuvant Amivantamab in Combination with Lazertinib or Chemotherapy in Resectable EGFR-Mutated Non-Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-523819-11-00·Authorised·A Phase 3 Randomized, Open Label, Multicenter Study to Evaluate the Safety and Efficacy of ABBV-706 versus Standard of Care in Subjects with Relapsed/Refractory Small Cell Lung Cancer (SCLC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525862-23-00·Authorised·Evaluation of the effect of botulinum toxin on refractory upper limb rest tremor in parkinsonian patients, double-blind, placebo-controlled cross-over study : TOX PARK
skipped — LLM skipped (--skip-llm)
- ctis·2025-525040-18-00·Authorised·DECREASE-IPC 2025-068 : De-Ecalating neoadjuvant Chemoimmunotherapy in early triple-negative BREASt cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523650-14-00·Authorised·functional imaging of digital osteoarthritis and rheumatoid arthritis using 99mTc-NTP15-5 in nuclear medicine : phase II clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2026-525417-31-00·Authorised·A randomised active-controlled trial to assess the safety and pharmacodynamics of two blinded doses of vortosiran and open-label apixaban in patients with non-valvular atrial fibrillation
skipped — LLM skipped (--skip-llm)
- ctis·2025-523994-41-00·Authorised·A Phase III, Randomized, Double-blind, Parallel-group, Placebo-controlled Multicenter Study to Evaluate the Effect of Elecoglipron in Reducing Renal Outcomes and Mortality in Participants with Chronic Kidney Disease (Elevate-CKD)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525185-21-00·Authorised·IKF-099/D-FLOT-TNT
Total Neoadjuvant Treatment with preoperative FLOT/Durvalumab plus postoperative Durvalumab for Resectable Gastroesophageal Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-522263-14-00·Authorised·A Phase 2/3 Randomized, Double Blind, Placebo-Controlled, Dose Ranging Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants with Huntington’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524418-27-00·Authorised·A Phase 1/2, dose escalation and expansion study of TRI-611, an oral ALK molecular glue degrader in participants with advanced ALK-positive NSCLC
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523435-18-00·Authorised·Colchicine for the Reduction of Dependency and Vascular Events after an Acute Intracerebral Hemorrhage (CoVasc-ICH2)
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Familial pseudohyperkalemia — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Familial pseudohyperkalemia" OR "PSHK2" OR "pseudohyperkalemia, familial, 2, due to red cell leak") OR (MESH:"Pseudohyperkalemia, Familial, 2, due to Red Cell Leak") OR ("ABCB6" OR "ABCB6 syndrome" OR "ABCB6-related")MeSH descriptor terms unioned into the query: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial pseudohyperkalemia" OR "PSHK2" OR "pseudohyperkalemia, familial, 2, due to red cell leak"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1403) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:31:27.668Z