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ORPHA:49827

Thiamine-responsive megaloblastic anemia syndrome

low confidenceDisorder

Also known as: Rogers syndrome · TRMA · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss

Publications

8,848

Trials

0

Interventional, condition-specific

Researchers

1,034

Distinct authors in sample

Gene link

SLC19A2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

THMD1 · thiamine metabolism dysfunction syndrome 1 · thiamine-responsive anemia syndrome · thiamine-responsive megaloblastic anemia syndrome · thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness · thiamine-responsive myelodysplasia

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — SLC19A2

  2. LiteraturePresent

    8,848 matched papers (6,442 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Sensorineural hearing impairment; Retinal dystrophy; Visual loss) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 1 for broader category megaloblastic anemia

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 (SLC19A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

45

Associated phenotypes · MONDO:0009575

  • Sensorineural hearing impairment
  • Retinal dystrophy
  • Visual loss
  • Optic atrophy
  • Stroke

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,848

8,848 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,848 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,442 in the last 10 years · low confidence

Phrase hits: 179 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,034

Distinct author names in 179 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.

  1. 01
    Mandel H6 papers · 2006
    Papers in Europe PMC
  2. 02
    Cohen N5 papers · 2002
    Papers in Europe PMC
  3. 03
    Faccenda E4 papers · 2019

    Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  4. 04
    Neufeld EJ4 papers · 2001

    Division of Hematology, Children's Hospital, Boston, Massachusetts 02115, USA. ellis.neufeld@tch.harard.edu

    Papers in Europe PMC
  5. 05
    Pawson AJ4 papers · 2019

    Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  6. 06
    Peters JA4 papers · 2019

    Neuroscience Division, Medical Education Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY, UK.

    Papers in Europe PMC
  7. 07
    Sharman JL4 papers · 2019

    Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  8. 08
    Alexander SP3 papers · 2017

    School of Biomedical Sciences, University of Nottingham Medical School, Nottingham, NG7 2UH, UK.

    Papers in Europe PMC
  9. 09
    Baron D3 papers · 2003

    Department of Molecular Genetics, the Rappaport Institute for Research in the Medical Sciences and the B. Rappaport Faculty of Medicine, The Technion-Israel Institute of Technology, Haifa, Israel.

    Papers in Europe PMC
  10. 10
    Barrett T3 papers · 1999
    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for megaloblastic anemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

1 interventional trial matched megaloblastic anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: megaloblastic anemia

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (4)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Thiamine-responsive megaloblastic anemia syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Thiamine-responsive megaloblastic anemia syndrome" OR "Rogers syndrome" OR "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" OR "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss" OR "THMD1" OR "thiamine metabolism dysfunction syndrome 1" OR "thiamine-responsive anemia syndrome" OR "thiamine-responsive myelodysplasia") OR (MESH:"Thiamine responsive megaloblastic anemia syndrome") OR ("SLC19A2" OR "SLC19A2 syndrome" OR "SLC19A2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Thiamine responsive megaloblastic anemia syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Thiamine-responsive megaloblastic anemia syndrome" OR "Rogers syndrome" OR "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" OR "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss" OR "THMD1" OR "thiamine metabolism dysfunction syndrome 1" OR "thiamine-responsive anemia syndrome" OR "thiamine-responsive myelodysplasia" OR "Thiamine responsive megaloblastic anemia syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"megaloblastic anemia"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TRMA

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
  • Publication count (8848) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:18:07.378Z