ORPHA:1195
Congenital atransferrinemia
Also known as: Congenital hypotransferrinemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
309
71.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,124
Distinct authors in sample
Gene link
TF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
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:0008846
- MeSH:C538259
- OMIM:209300
- UMLS:C0521802
- NCIT:C125693
Additional Mondo synonyms (5)
atransferrinemia · congenital atransferrinemia · congenital hypotransferrinemia · familial hypotransferrinemia · hereditary atransferrinemia
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TF
- LiteraturePresent
309 matched papers (136 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 trialPresent
1 matched on ClinicalTrials.gov
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 (TF).
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?
309
309 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.
309 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).
136 in the last 10 years · medium confidence · 71.9th percentile (publications denominator)
Phrase hits: 309 · MeSH hits: 0
Who's working on it?
1,124
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Berry GT4 papers · 2021
Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 02Beutler E4 papers · 2007
The Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
Papers in Europe PMC - 03Iolascon A4 papers · 2024
Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università degli Studi di Napoli Federico II Napoli Italy.
Papers in Europe PMC - 04Kaplan J4 papers · 2011Papers in Europe PMC
- 05Muckenthaler MU4 papers · 2024
the Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, 69120 Heidelberg, Germany.
Papers in Europe PMC - 06Anderson GJ3 papers · 2021
Iron Metabolism Laboratory, The Queensland Institute of Medical Research, Royal Brisbane Hospital, Australia. gregA@qimr.edu.au
Papers in Europe PMC - 07Aslan D3 papers · 2022
Hematology Unit, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdagutf@superonline.com
Papers in Europe PMC - 08Beaumont C3 papers · 2013Papers in Europe PMC
- 09Biondi A3 papers · 2007Papers in Europe PMC
- 10Demirbas D3 papers · 2021
Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 atransferrinemia" OR "Congenital hypotransferrinemia" OR "atransferrinemia" OR "familial hypotransferrinemia" OR "hereditary atransferrinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital atransferrinemia" OR "Congenital hypotransferrinemia" OR "atransferrinemia" OR "familial hypotransferrinemia" OR "hereditary atransferrinemia" OR "TF"
Recall-expansion terms: TF
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (309) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T16:39:38.009Z