Iron deficiency anemia

Summary

Iron deficiency anemia (MONDO:0001356) is a disease with 1 cohort gene and 289 clinical trials. Top therapeutic interventions include ferrous sulfate, ferric carboxymaltose, and iron sucrose.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 289

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	iron deficiency anemia
Mondo ID	MONDO:0001356
MeSH	D018798
DOID	DOID:11758
ICD-10-CM	D50
NCIT	C84484
SNOMED CT	87522002
UMLS	C0162316
MedGen	57668
Is cancer (heuristic)	no

Also known as: iron-deficiency anaemia · iron-deficiency anemia

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › microcytic anemia › hypochromic microcytic anemia › iron deficiency anemia

Related subtypes (1): anemia, hypochromic microcytic with iron overload

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
12622	NM_001063.4(TF):c.829G>A (p.Gly277Ser)	TF	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TF	Orphanet:1195	Congenital atransferrinemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TF	HGNC:11740	ENSG00000091513	P02787	Serotransferrin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TF	Serotransferrin	Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TF	Other/Unknown	no		Transferrin-like_dom, Transferrin, Transferrin_Fe_BS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
corpus callosum	1
inferior vagus X ganglion	1
medulla oblongata	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TF	249	broad	marker	inferior vagus X ganglion, medulla oblongata, corpus callosum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TF	2,217

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TF	P02787	66

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Transferrin endocytosis and recycling	1	368.4×	0.010	TF
Iron uptake and transport	1	346.1×	0.010	TF
Cargo recognition for clathrin-mediated endocytosis	1	104.8×	0.012	TF
Post-translational protein phosphorylation	1	100.2×	0.012	TF
Platelet degranulation	1	87.8×	0.012	TF
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	86.5×	0.012	TF
Clathrin-mediated endocytosis	1	85.2×	0.012	TF

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cellular response to iron ion	1	2407.4×	0.004	TF
iron ion transport	1	887.0×	0.004	TF
positive regulation of receptor-mediated endocytosis	1	802.5×	0.004	TF
multicellular organismal-level iron ion homeostasis	1	581.1×	0.004	TF
osteoclast differentiation	1	343.9×	0.005	TF
antibacterial humoral response	1	330.4×	0.005	TF
intracellular iron ion homeostasis	1	244.2×	0.006	TF
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	1	210.7×	0.006	TF
regulation of protein stability	1	125.8×	0.009	TF
cell surface receptor signaling pathway	1	64.1×	0.016	TF

Therapeutics

Drugs indicated for this disease

19 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Ascorbic Acid	Approved (phase 4)
Biotin	Approved (phase 4)
Cholecalciferol	Approved (phase 4)
Cupric Sulfate	Approved (phase 4)
Cyanocobalamin	Approved (phase 4)
Ferric Carboxymaltose	Approved (phase 4)
Ferric Derisomaltose	Approved (phase 4)
Ferric Maltol	Approved (phase 4)
Ferrous Fumarate	Approved (phase 4)
Folic Acid	Approved (phase 4)
Iron Dextran	Approved (phase 4)
Iron Sucrose	Approved (phase 4)
Magnesium Oxide	Approved (phase 4)
Niacin	Approved (phase 4)
Niacinamide	Approved (phase 4)
Riboflavin	Approved (phase 4)
Sodium Ascorbate	Approved (phase 4)
Zinc Oxide	Approved (phase 4)
Zinc Sulfate	Approved (phase 4)
Ferrous Sulfate	Phase 3 (in late-stage trials)
Ferumoxytol	Phase 3 (in late-stage trials)
IRON ISOMALTOSIDE 1000	Phase 3 (in late-stage trials)
Polyferose	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ferric Pyrophosphate Citrate, Sodium Ferric Gluconate Complex.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TF	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TF	22	Binding:13, Functional:9

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TF

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TF	22	—

Clinical trials & evidence

Clinical trials

Clinical trials: 289.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	156
PHASE3	51
PHASE4	48
PHASE2	17
PHASE1	8
PHASE2/PHASE3	5
PHASE1/PHASE2	2
EARLY_PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04168346	PHASE4	NOT_YET_RECRUITING	Preoperative Intravenous Iron Therapy in Patients With Gastric Cancer
NCT04913649	PHASE4	RECRUITING	Intravenous Iron to Treat Postoperative Anemia in Older Cardiac Surgery Patients
NCT05708170	PHASE4	NOT_YET_RECRUITING	Impact of Intravenous Iron on Musculoskeletal Function in Older Adults
NCT05929729	PHASE4	RECRUITING	Iron Deficiency Anemia (IDA) and the Brain
NCT06492512	PHASE4	RECRUITING	Oral Iron Supplementation on Alternate vs. Consecutive Days for Iron Deficiency Anemia in Pregnancy
NCT06550362	PHASE4	NOT_YET_RECRUITING	Daily Iron vs Every-other-day Iron for Pediatric Patients With IDA
NCT07053475	PHASE4	RECRUITING	IRONICA: IRON Repletion In Heart Failure - A Comparison of Oral and IV Approaches
NCT07238972	PHASE4	NOT_YET_RECRUITING	Postoperative Intravenous Ferric Derisomaltose for Prevention of Long-term Anemia After Cardiac Surgery
NCT07287371	PHASE4	NOT_YET_RECRUITING	Sucrosomial Vs Intravenous Iron for Preoperative Anemia
NCT07308769	PHASE4	RECRUITING	Efficacy and Tolerability of Sucrosomial® Iron vs Ferric Maltol in Iron Deficient Women
NCT07391371	PHASE4	NOT_YET_RECRUITING	Alternate-day Versus Daily Oral Iron Therapy in Children With Iron Deficiency Anaemia
NCT07414199	PHASE4	NOT_YET_RECRUITING	The Role of Ferric Carboxymaltose in the Treatment of Pediatric Iron Deficiency Anemia in the Emergency Department
NCT07605676	PHASE4	RECRUITING	Acupoint TENS vs Resistance Training for Iron Deficiency Anemia
NCT00199277	PHASE4	UNKNOWN	Iron Therapy in Colo-Rectal Neoplasm and Iron Deficiency Anemia: Intravenous Iron Sucrose Versus Oral Ferrous Sulphate.
NCT00298441	PHASE4	COMPLETED	Efficacy of Intravenous Iron Administration in Hemodialysis Patients
NCT00593619	PHASE4	SUSPENDED	Trial Comparing the Safety of Two Different Intravenous Iron Formulations
NCT00706667	PHASE4	TERMINATED	Intravenous Ferric Carboxymaltose (Ferinject®) With or Without Erythropoietin in Patients Undergoing Orthopaedic Surgery
NCT00802139	PHASE4	COMPLETED	Efficacy and Safety Study of Iron Sucrose and Oral Iron Acetyl-transferrin Hydroglycerin
NCT00830037	PHASE4	TERMINATED	A Clinical Trial of Oral Versus IV Iron in Patients With Chronic Kidney Disease
NCT01100879	PHASE4	TERMINATED	Ferric Carboxymaltose for Treatment of Anaemia of Cancer in Subjects With Multiple Myeloma Receiving Chemotherapy
NCT01148745	PHASE4	COMPLETED	Iron Indices and Intravenous Ferumoxytol: Time to Steady State
NCT01151592	PHASE4	WITHDRAWN	Safety Assessment of Iron Sucrose (Venofer) in Patients With Chronic Kidney Disease Who Cannot Tolerate Ferumoxytol (Feraheme) or Iron Dextran (INFed or Dexferrum)
NCT01221844	PHASE4	COMPLETED	Bovine Lactoferrin to Prevent and Cure Iron Deficiency and Iron Deficiency Anemia in Complicated Pregnancies
NCT01245777	PHASE4	COMPLETED	Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy
NCT01418898	PHASE4	UNKNOWN	Nutrient Fortified Oat Drink
NCT01864161	PHASE4	COMPLETED	Endovenous Versus Liposomal Iron in CKD
NCT01904864	PHASE4	COMPLETED	Comparison of NovaFerrum® vs Ferrous Sulfate Treatment in Young Children With Nutritional Iron Deficiency Anemia
NCT01925703	PHASE4	COMPLETED	Short-Term Effects & Safety of an Accelerated Intravenous Iron Regimen in Patients With Heart Failure
NCT01942460	PHASE4	COMPLETED	Ferumoxytol for Iron-Deficiency Anemia in Chronic Kidney Disease and Peritoneal Dialysis Patients
NCT01950247	PHASE4	COMPLETED	Evaluate the Utility of Serum Hepcidin Levels to Predict Response to Oral or IV Iron
NCT02487719	PHASE4	UNKNOWN	Different Iron Supplements for Prevention of Anemia in Pregnancy
NCT02590224	PHASE4	COMPLETED	The Effect of Iron Deficiency Anemia During Pregnancy
NCT02774057	PHASE4	UNKNOWN	Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD
NCT03112187	PHASE4	COMPLETED	FLIPS: Ferfer Liposomal Iron Performance Study
NCT03236246	PHASE4	COMPLETED	KRX-0502 (Ferric Citrate) in Subjects With NDD-CKD and IDA (The COMPASS Trial)
NCT03524651	PHASE4	COMPLETED	Ferrous Acetyl-Aspartate Casein Formulation Evaluation Over Ferrous Sulfate in Iron Deficiency Anemia
NCT03830034	PHASE4	UNKNOWN	Amino Acid Chelated Iron Versus Ferrous Fumarate in the Treatment of Iron Deficiency Anemia With Pregnancy: Randomized Controlled Trial
NCT04616092	PHASE4	UNKNOWN	Effect of Preoperative Intravenous Ferric Carboxymaltose for Clipping Surgery
NCT04627181	PHASE4	UNKNOWN	Do Iron And Vitamin B12 Injections Given Together, Improve Hemoglobin In Patients On Hemodialysis?
NCT05007899	PHASE4	COMPLETED	Alternate Day Versus Daily Oral Iron Therapy in Adolescents

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FERROUS SULFATE	4	36
FERRIC CARBOXYMALTOSE	4	23
IRON SUCROSE	4	16
FERUMOXYTOL	4	14
FERRIC DERISOMALTOSE	4	9
FERRIC MALTOL	4	5
FERROUS FUMARATE	4	4
FERRIC CITRATE	4	2
FERRIC OXYHYDROXIDE	4	2
FOLIC ACID	4	2
ASCORBIC ACID	4	1
CYANOCOBALAMIN	4	1
FERRIC AMMONIUM CITRATE	4	1
FERRIC PYROPHOSPHATE CITRATE	4	1
HYDROXOCOBALAMIN	4	1
SODIUM FERRIC GLUCONATE COMPLEX	4	1
FERRIC SULFATE	3	3
IRON ISOMALTOSIDE 1000	3	3
MALTOL	3	3
FERRIC GLUCONATE TRIHYDRATE	3	2
IRON DEXTRAN	3	2
FERROUS ASCORBATE	3	1
GELATIN	3	1
PHYTIC ACID	3	1
POLYFEROSE	3	1
SYRUP	3	1
KER-047	2	1
CHEMBL4303681	0	1
AMARANTH	0	1
VITAMIN B12	0	1