Potassium deficiency disease
diseaseOn this page
Also known as hypokalemia
Summary
Potassium deficiency disease (MONDO:0003019) is a disease with 19 GWAS associations across 6 studies and 17 clinical trials. Top therapeutic interventions include hydrochlorothiazide, potassium chloride, and potassium. A subtype of mineral metabolism disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 19
- Clinical trials: 17
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | potassium deficiency disease |
| Mondo ID | MONDO:0003019 |
| MeSH | D007008 |
| DOID | DOID:4500 |
| ICD-10-CM | E87.6 |
| NCIT | C34939 |
| SNOMED CT | 43339004 |
| UMLS | C1514284 |
| MedGen | 271346 |
| Is cancer (heuristic) | no |
Also known as: hypokalemia
Data availability: 19 GWAS associations (6 studies) · 1 HPO phenotype.
Disease family
This is a subtype of mineral metabolism disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › mineral metabolism disease › potassium deficiency disease
Related subtypes (12): iron metabolism disease, phosphorus metabolism disease, calcium metabolic disease, spondyloepiphyseal dysplasia with congenital joint dislocations, diastrophic dysplasia, multiple epiphyseal dysplasia type 4, atelosteogenesis type II, achondrogenesis type IB, chondrodysplasia with joint dislocations, gPAPP type, spondyloepimetaphyseal dysplasia, PAPSS2 type, acquired mineral metabolism disease, sulfur metabolism disease
Subtypes (1): hypokalemic periodic paralysis
Genetics & variants
GWAS landscape
19 GWAS associations across 6 studies. Top hits map to 9 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs6563624 | 3e-32 | B3GLCT - RXFP2 | T | 0.1 |
| chr13:32179733 | 3e-27 | G | 0.1 | |
| rs880315 | 6e-20 | CASZ1 | T | 0.08 |
| rs60772526 | 2e-19 | HOTTIP | C | 0.12 |
| rs569550 | 6e-18 | LSP1 | T | 0.08 |
| rs4980379 | 2e-16 | LSP1 | C | 0.08 |
| rs4918060 | 2e-14 | SH3PXD2A | C | 0.09 |
| rs2643826 | 3e-14 | RNU1-96P - Y_RNA | C | 0.07 |
| rs35021474 | 4e-14 | KCNK3 | C | 0.07 |
| rs10857147 | 9e-13 | PRDM8 - FGF5 | A | 0.07 |
| chr7:27322352 | 2e-12 | T | 0.17 | |
| rs80176668 | 8e-12 | TARID | A | 0.18 |
| rs7726795 | 2e-11 | FBN2 | T | 0.06 |
| rs17038648 | 3e-11 | LEF1 | C | 0.28 |
| rs1032466 | 8e-07 | ATL1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475755 | Verma A | 2024 | 23,659 | 402,078 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475754 | Verma A | 2024 | 10,895 | 101,696 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479944 | Verma A | 2024 | 10,895 | 101,696 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477411 | Verma A | 2024 | 2,763 | 53,922 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652206 | Liu TY | 2025 | 2,531 | 219,134 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435774 | Zhou W | 2018 | 1,430 | 401,506 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 14 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 14 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 9 |
| intergenic_variant | 2 |
| unknown | 2 |
| non_coding_transcript_exon_variant | 1 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs6563624 | 13 | 31619754 | T>A,C,G | 0.447 | intergenic_variant | B3GLCT - RXFP2 | 3e-32 | Tier 4: intronic/intergenic |
| chr13:32179733 | 0.442 | 3e-27 | Tier 4: intronic/intergenic | |||||
| rs880315 | 1 | 10736809 | T>C,G | 0.325 | intron_variant | CASZ1 | 6e-20 | Tier 4: intronic/intergenic |
| rs60772526 | 7 | 27206377 | C>G,T | 0.123 | non_coding_transcript_exon_variant | HOTTIP | 2e-19 | Tier 4: intronic/intergenic |
| rs569550 | 11 | 1865838 | T>G | 0.361 | intron_variant | LSP1 | 6e-18 | Tier 4: intronic/intergenic |
| rs4980379 | 11 | 1867384 | C>A,T | 0.363 | intron_variant | LSP1 | 2e-16 | Tier 4: intronic/intergenic |
| rs4918060 | 10 | 103846529 | C>A,G,T | 0.106 | intron_variant | SH3PXD2A | 2e-14 | Tier 4: intronic/intergenic |
| rs2643826 | 3 | 27521497 | C>T | 0.471 | regulatory_region_variant | RNU1-96P - Y_RNA | 3e-14 | Tier 3: regulatory |
| rs35021474 | 2 | 26693976 | C>G,T | 0.459 | intron_variant | KCNK3 | 4e-14 | Tier 4: intronic/intergenic |
| rs10857147 | 4 | 80259918 | A>T | 0.249 | intergenic_variant | PRDM8 - FGF5 | 9e-13 | Tier 4: intronic/intergenic |
| chr7:27322352 | 0.05 | 2e-12 | Tier 4: intronic/intergenic | |||||
| rs80176668 | 6 | 133748827 | A>G | 0.103 | intron_variant | TARID | 8e-12 | Tier 4: intronic/intergenic |
| rs7726795 | 5 | 128529392 | T>A,C | 0.366 | intron_variant | FBN2 | 2e-11 | Tier 4: intronic/intergenic |
| rs17038648 | 4 | 108140367 | C>T | 0.032 | intron_variant | LEF1 | 3e-11 | Tier 4: intronic/intergenic |
| rs1032466 | 14 | 50607743 | A>C,G | 0.05 | intron_variant | ATL1 | 8e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 17.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE4 | 8 |
| Not specified | 8 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03833089 | PHASE4 | ACTIVE_NOT_RECRUITING | Targeted Potassium Levels for Prevention of ICD Therapy |
| NCT06736184 | PHASE4 | NOT_YET_RECRUITING | the Cardioprotective Effects of Improving Potassium Variability in Maintenance Hemodialysis Patients |
| NCT00605202 | PHASE4 | COMPLETED | Effect of Licorice and Hydrochlorothiazide on Plasma Potassium |
| NCT00718068 | PHASE4 | COMPLETED | Safety of Continuous Potassium Chloride Infusion in Critical Care |
| NCT02015962 | PHASE4 | UNKNOWN | Comparison of Enteral Versus Intravenous Potassium Supplementation |
| NCT02082717 | PHASE4 | TERMINATED | The Impact of Neut During Potassium Chloride Replacement on Pain and Incidence of Phlebitis |
| NCT02721095 | PHASE4 | UNKNOWN | Efficacy of KCl Plus 0.9%NaCl Compare With KCl Plus 0.45%NaCl |
| NCT02926989 | PHASE4 | COMPLETED | Intravenous Fluids in Hospitalised Children |
| NCT02709031 | PHASE1/PHASE2 | UNKNOWN | Cicletanine in Hypertension With Diabetes: Added Magnesium Preserves Potassium and Sodium |
| NCT04278404 | Not specified | RECRUITING | Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS) |
| NCT06569589 | Not specified | RECRUITING | Tissue Sodium Quantification in Patients With Primary Aldosteronism: See Sodium to Treat |
| NCT01431326 | Not specified | COMPLETED | Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care |
| NCT01572454 | Not specified | COMPLETED | Comparison of Dexmedetomidine and Remifentanil Infusion During CABG |
| NCT04426994 | Not specified | COMPLETED | Hypomagnesemia Associated With Proton-Pump Inhibitor Use |
| NCT04428827 | Not specified | UNKNOWN | Outcome of Patients With Primary Aldosteronism |
| NCT05118022 | Not specified | COMPLETED | Artificial Intelligence Identified Dyskalemia Using Electrocardiogram (AIDE) |
| NCT05184998 | Not specified | COMPLETED | Description of the Clinical Outcomes of Hospitalized Patients With Heart Failure With Different Serum Potassium Levels |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| HYDROCHLOROTHIAZIDE | 4 | 1 |
| POTASSIUM CHLORIDE | 4 | 1 |
| POTASSIUM | 3 | 2 |
| BLOOD, WHOLE | 3 | 1 |
| LICORICE | 3 | 1 |
| MAGNESIUM | 3 | 1 |
| CICLETANINE | 2 | 1 |