Pernicious anemia
disease diseaseOn this page
Also known as acquired pernicious anaemiaacquired pernicious anemiaAddison anaemiaAddison anemiaAddison's anemiaAddison-Biermer anaemiaAddison-Biermer anemiaanaemia perniciousanemia perniciousBiermer anaemiaBiermer anemiaBiermer diseaseintrinsic factor deficiencyjuvenile onset pernicious anaemiajuvenile onset pernicious anemia
Summary
Pernicious anemia (MONDO:0008228) is a disease with 8 GWAS associations across 12 studies and 4 clinical trials. Top therapeutic interventions include hydroxocobalamin. A subtype of megaloblastic anemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 8
- Clinical trials: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pernicious anemia |
| Mondo ID | MONDO:0008228 |
| EFO | EFO:0005576 |
| MeSH | D000752 |
| OMIM | 170900 |
| Orphanet | 120 |
| DOID | DOID:13381 |
| ICD-10-CM | D51.0 |
| NCIT | C2871 |
| SNOMED CT | 84027009 |
| UMLS | C0002892 |
| MedGen | 1531 |
| GARD | 0027356 |
| Is cancer (heuristic) | no |
Also known as: acquired pernicious anaemia · acquired pernicious anemia · Addison anaemia · Addison anemia · Addison’s anemia · Addison-Biermer anaemia · Addison-Biermer anemia · anaemia pernicious · anemia pernicious · Biermer anaemia · Biermer anemia · Biermer disease · intrinsic factor deficiency · juvenile onset pernicious anaemia · juvenile onset pernicious anemia · pernicious anemia
Data availability: 8 GWAS associations (12 studies).
Disease family
This is a subtype of megaloblastic anemia. 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 body system or component › hematologic disorder › anemia › macrocytic anemia › megaloblastic anemia › pernicious anemia
Related subtypes (5): hereditary folate malabsorption, formiminoglutamic aciduria, Imerslund-Grasbeck syndrome, constitutional megaloblastic anemia with severe neurologic disease, vitamin B12- and folate-independent constitutional megaloblastic anemia
Genetics & variants
GWAS landscape
8 GWAS associations across 12 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs377695939 | 1e-13 | LINC02713 - CNTN5 | G | 3.36 |
| rs575640865 | 3e-13 | ICE1 - HMGB3P3 | C | 3.31 |
| rs146734497 | 9e-13 | TMEM72-AS1, TMEM72 | C | 2.36 |
| rs541051646 | 5e-12 | LGR6 - UBE2T | C | 4.58 |
| rs537837866 | 1e-11 | LINC02028 | T | 4.37 |
| rs576359040 | 2e-11 | MARCHF1 | T | 3.08 |
| rs569863531 | 4e-11 | ZNF731P - VN1R17P | G | 3.94 |
| rs567953174 | 4e-11 | POU2F3 | G | 3.01 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473117 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 3,496 | 454,944 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90014450 | Glanville KP | 2021 | 1,555 | 324,074 | Investigating Pleiotropy Between Depression and Autoimmune Diseases Using the UK Biobank. |
| GCST90077789 | Backman JD | 2021 | 1,382 | 330,372 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081775 | Backman JD | 2021 | 1,382 | 330,372 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90477449 | Verma A | 2024 | 1,218 | 449,047 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90077790 | Backman JD | 2021 | 1,182 | 327,870 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081776 | Backman JD | 2021 | 1,182 | 327,870 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90435798 | Zhou W | 2018 | 754 | 390,026 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90014451 | Glanville KP | 2021 | 423 | 324,074 | Investigating Pleiotropy Between Depression and Autoimmune Diseases Using the UK Biobank. |
| GCST90479961 | Verma A | 2024 | 211 | 121,521 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
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 | 0 |
| Tier 4: intronic/intergenic | 8 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 8 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 5 |
| intergenic_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs377695939 | 11 | 98020608 | G>A,C | 0 | intergenic_variant | LINC02713 - CNTN5 | 1e-13 | Tier 4: intronic/intergenic |
| rs575640865 | 5 | 5779781 | C>T | 0 | intergenic_variant | ICE1 - HMGB3P3 | 3e-13 | Tier 4: intronic/intergenic |
| rs146734497 | 10 | 44915979 | C>T | 0 | intron_variant | TMEM72-AS1, TMEM72 | 9e-13 | Tier 4: intronic/intergenic |
| rs541051646 | 1 | 202321326 | C>T | 0 | intergenic_variant | LGR6 - UBE2T | 5e-12 | Tier 4: intronic/intergenic |
| rs537837866 | 3 | 194033732 | T>C | 0.001 | intron_variant | LINC02028 | 1e-11 | Tier 4: intronic/intergenic |
| rs576359040 | 4 | 164130238 | T>C | 0 | intron_variant | MARCHF1 | 2e-11 | Tier 4: intronic/intergenic |
| rs569863531 | 1 | 247222389 | G>A,T | 0 | intron_variant | ZNF731P - VN1R17P | 4e-11 | Tier 4: intronic/intergenic |
| rs567953174 | 11 | 120246854 | G>A | 0 | intron_variant | POU2F3 | 4e-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: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03372447 | PHASE4 | COMPLETED | Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia |
| NCT03655223 | Not specified | ENROLLING_BY_INVITATION | Early Check: Expanded Screening in Newborns |
| NCT03941184 | Not specified | COMPLETED | Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity |
| NCT04239521 | Not specified | COMPLETED | The Epidemiology, Management, and the Associated Burden of Related Conditions in Alopecia Areata |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| HYDROXOCOBALAMIN | 4 | 1 |
Related Atlas pages
- Drugs: Hydroxocobalamin