Iron metabolism disease
disease diseaseOn this page
Also known as disorder of iron metabolismdisorder, iron metabolismdisorders, iron metabolismiron metabolism disordermetabolism disorder, ironmetabolism disorders, iron
Summary
Iron metabolism disease (MONDO:0002279) is a disease with 19 GWAS associations across 7 studies and 16 clinical trials. Top therapeutic interventions include beta carotene, deferasirox, and deferiprone. 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: 16
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | iron metabolism disease |
| Mondo ID | MONDO:0002279 |
| MeSH | D019189 |
| DOID | DOID:2351 |
| ICD-10-CM | E83.1 |
| SNOMED CT | 30913008 |
| UMLS | C0012715 |
| MedGen | 8438 |
| Is cancer (heuristic) | no |
Also known as: disorder of iron metabolism · disorder, iron metabolism · disorders, iron metabolism · iron metabolism disorder · metabolism disorder, iron · metabolism disorders, iron
Data availability: 19 GWAS associations (7 studies).
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 › iron metabolism disease
Related subtypes (12): phosphorus metabolism disease, potassium deficiency 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 (2): hemosiderosis, neurodegeneration with brain iron accumulation
Genetics & variants
GWAS landscape
19 GWAS associations across 7 studies. Top hits map to 13 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr6:25488583 | 1e-323 | C | 1.5 | |
| rs181058325 | 1e-323 | CMAHP, CARMIL1 | A | 1.34 |
| rs1800562 | 4e-71 | HFE, H2BC4 | ? | 4.12 |
| rs80215559 | 1e-23 | SLC17A2 | T | 1.67 |
| chr6:26668278 | 8e-19 | A | 1.81 | |
| rs77375493 | 1e-15 | JAK2 | G | 1.88 |
| rs1045539487 | 4e-13 | TAFA5 | G | 3.47 |
| chr22:37460449 | 2e-12 | C | 0.2 | |
| rs855791 | 2e-12 | TMPRSS6 | A | 0.18 |
| rs569809555 | 3e-12 | SOCS5P1 - GRM3 | C | 2.78 |
| rs190823084 | 4e-12 | MBOAT1 - E2F3 | G | 2.29 |
| rs189563348 | 5e-12 | SERPINB11 | A | 4.87 |
| rs186155253 | 8e-12 | U2AF1 | A | 3.52 |
| rs2294915 | 9e-12 | PNPLA3 | C | 0.19 |
| rs536135107 | 1e-11 | PUM2 | T | 1.8 |
| rs738409 | 2e-11 | PNPLA3 | C | 0.2 |
| chr6:28373034 | 2e-11 | A | 1.25 | |
| rs370909140 | 2e-11 | DDIT4L-AS1 - EMCN | A | 3.96 |
| rs150338909 | 3e-11 | AGO2 | G | 3.19 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90726936 | Kim HI | 2026 | 8,021 | 36,005 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90475743 | Verma A | 2024 | 2,940 | 446,492 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435765 | Zhou W | 2018 | 669 | 406,834 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90479935 | Verma A | 2024 | 408 | 121,002 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481630 | Verma A | 2024 | 408 | 121,002 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476484 | Verma A | 2024 | 245 | 59,402 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90837455 | Koyama S | 2025 | 0 | 0 | Genetics and context for precision health in Greater Boston. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 4 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 15 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 6 |
| low_freq (0.01-0.05) | 4 |
| rare (<0.01) | 9 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| unknown | 4 |
| missense_variant | 4 |
| intergenic_variant | 3 |
| synonymous_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr6:25488583 | 0.088 | 1e-323 | Tier 4: intronic/intergenic | |||||
| rs181058325 | 6 | 25314369 | A>G | 0.048 | intron_variant | CMAHP, CARMIL1 | 1e-323 | Tier 4: intronic/intergenic |
| rs1800562 | 6 | 26092913 | G>A,T | 0.05 | missense_variant | HFE, H2BC4 | 4e-71 | Tier 1: coding |
| rs80215559 | 6 | 25917997 | T>C | 0.025 | intron_variant | SLC17A2 | 1e-23 | Tier 4: intronic/intergenic |
| chr6:26668278 | 0.027 | 8e-19 | Tier 4: intronic/intergenic | |||||
| rs77375493 | 9 | 5073770 | G>A,C,T | 0 | missense_variant | JAK2 | 1e-15 | Tier 1: coding |
| rs1045539487 | 22 | 48830197 | G>A | 0 | intergenic_variant | TAFA5 | 4e-13 | Tier 4: intronic/intergenic |
| chr22:37460449 | 0.424 | 2e-12 | Tier 4: intronic/intergenic | |||||
| rs855791 | 22 | 37066896 | A>C,G,T | 0.384 | missense_variant | TMPRSS6 | 2e-12 | Tier 1: coding |
| rs569809555 | 7 | 86223460 | C>A | 0 | intron_variant | SOCS5P1 - GRM3 | 3e-12 | Tier 4: intronic/intergenic |
| rs190823084 | 6 | 20363492 | G>A | 0.001 | intergenic_variant | MBOAT1 - E2F3 | 4e-12 | Tier 4: intronic/intergenic |
| rs189563348 | 18 | 63721792 | A>C | 0.001 | intron_variant | SERPINB11 | 5e-12 | Tier 4: intronic/intergenic |
| rs186155253 | 21 | 43105055 | A>G | 0.001 | intron_variant | U2AF1 | 8e-12 | Tier 4: intronic/intergenic |
| rs2294915 | 22 | 43945024 | C>G,T | 0.238 | intron_variant | PNPLA3 | 9e-12 | Tier 4: intronic/intergenic |
| rs536135107 | 2 | 20314771 | T>C | 0.001 | intron_variant | PUM2 | 1e-11 | Tier 4: intronic/intergenic |
| rs738409 | 22 | 43928847 | C>A,G,T | 0.225 | missense_variant | PNPLA3 | 2e-11 | Tier 1: coding |
| chr6:28373034 | 0.028 | 2e-11 | Tier 4: intronic/intergenic | |||||
| rs370909140 | 4 | 100326955 | A>C,G | 0 | intergenic_variant | DDIT4L-AS1 - EMCN | 2e-11 | Tier 4: intronic/intergenic |
| rs150338909 | 8 | 140549133 | G>A | 0 | synonymous_variant | AGO2 | 3e-11 | 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: 16.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 12 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06151548 | PHASE4 | UNKNOWN | Effect of Krill Oil Supplementation on Red Blood Cell Physiology Against Changes in Markers of Iron Metabolism. |
| NCT02882477 | PHASE2/PHASE3 | UNKNOWN | Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy |
| NCT01927913 | PHASE2 | WITHDRAWN | Treatment of Iron Overload Requiring Chelation Therapy |
| NCT03013439 | PHASE1 | COMPLETED | Dose-escalation Trial of the Safety, Pharmacokinetics, and Pharmacodynamics of Iron Isomaltoside (Monofer®) |
| NCT04008147 | Not specified | RECRUITING | Hepcidin and Glucose Metabolism |
| NCT05586867 | Not specified | RECRUITING | Study of Markers of Iron Metabolism and Their Relationship With Phosphocalcic and Hepatic Metabolism and Inflammation in Hemodialysis Patients |
| NCT06213402 | Not specified | RECRUITING | RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) |
| NCT06250595 | Not specified | RECRUITING | European Rare Blood Disorders Platform (ENROL) |
| NCT00687518 | Not specified | UNKNOWN | Effects of Intravenous Injection of Erythropoietin on Hepcidin Pharmacokinetics in Healthy Volunteers |
| NCT01477112 | Not specified | COMPLETED | Low Dose β-carotene Supplementation Diminishes Oxidative Stress in Type 2 Diabetics and Healthy Individuals |
| NCT03276247 | Not specified | COMPLETED | Iron Status in Women of Reproductive Age Reproductive Age |
| NCT03317873 | Not specified | COMPLETED | The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study |
| NCT03512743 | Not specified | UNKNOWN | Association of Serum Ferritin and Bone Mineral Density With Bone Metabolism in Chinese Healthy Postmenopausal Women |
| NCT03990181 | Not specified | COMPLETED | Inhibiting Dietary Iron Absorption in Subjects With Hereditary Hemochromatosis by a Natural Polyphenol Supplement |
| NCT04458662 | Not specified | COMPLETED | Iron and Muscular Damage: FEmale Metabolism and Menstrual Cycle During Exercise |
| NCT05510440 | Not specified | UNKNOWN | Supplementation With Altha-aminoacids and Systemiec Inflammatory Response in Long-distance Runners. |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BETA CAROTENE | 4 | 1 |
| DEFERASIROX | 4 | 1 |
| DEFERIPRONE | 4 | 1 |
| FERROUS FUMARATE | 4 | 1 |
| SITAGLIPTIN | 4 | 1 |
| DEFERITAZOLE | 2 | 1 |