ORPHA:332
Congenital intrinsic factor deficiency
Also known as: Congenital pernicious anemia · Gastric intrinsic factor deficiency · Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency · IFD · Intrinsic factor deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
288
72.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,014
Distinct authors in sample
Gene link
CBLIF
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009852
- MeSH:C563242
- OMIM:261000
- UMLS:C2062370
Additional Mondo synonyms (6)
congenital intrinsic factor deficiency · congenital pernicious anaemia · congenital pernicious anemia · gastric intrinsic factor deficiency · hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency · hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
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.”
2/6 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
Strong — CBLIF
- LiteraturePresent
288 matched papers (142 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (CBLIF).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
288
288 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
288 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
142 in the last 10 years · medium confidence · 72.8th percentile (publications denominator)
Phrase hits: 288 · MeSH hits: 0
Who's working on it?
1,014
Distinct author names in 200 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.
- 01Lahner E9 papers · 2026
Department of Surgical-Medical Sciences and Translational Medicine, Digestive and Liver Disease Unit, Sant'Andrea Hospital, Sapienza University of Rome, 00185 Roma, Italy.
Papers in Europe PMC - 02Sun A8 papers · 2025
Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan.
Papers in Europe PMC - 03Annibale B7 papers · 2026
Department of Surgical-Medical Sciences and Translational Medicine, Digestive and Liver Disease Unit, Sant'Andrea Hospital, Sapienza University of Rome, 00185 Roma, Italy.
Papers in Europe PMC - 04Chiang CP7 papers · 2025
Department of Dentistry, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
Papers in Europe PMC - 05Lenti MV7 papers · 2025
First Department of Medicine, Istituto di Ricovero e Cura a Carattere Scientifico San Matteo Hospital Foundation, University of Pavia, Piazzale Golgi 19, 27100 Pavia, Italy.
Papers in Europe PMC - 06Yu-Fong Chang J7 papers · 2025
Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan.
Papers in Europe PMC - 07Di Sabatino A6 papers · 2025
First Department of Medicine, Istituto di Ricovero e Cura a Carattere Scientifico San Matteo Hospital Foundation, University of Pavia, Piazzale Golgi 19, 27100 Pavia, Italy.
Papers in Europe PMC - 08Tanner SM6 papers · 2013
The Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA
Papers in Europe PMC - 09Wu YH6 papers · 2025
Department of Dentistry, Far Eastern Memorial Hospital, New Taipei City, Taiwan.
Papers in Europe PMC - 10Wang YP5 papers · 2025
Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Congenital intrinsic factor deficiency" OR "Congenital pernicious anemia" OR "Gastric intrinsic factor deficiency" OR "Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" OR "Intrinsic factor deficiency" OR "congenital pernicious anaemia" OR "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital intrinsic factor deficiency" OR "Congenital pernicious anemia" OR "Gastric intrinsic factor deficiency" OR "Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" OR "Intrinsic factor deficiency" OR "congenital pernicious anaemia" OR "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency" OR "CBLIF"
Recall-expansion terms: CBLIF
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IFD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:26:35.981Z