ORPHA:572543
RFVT2-related riboflavin transporter deficiency
Also known as: RTD2 · Riboflavin transporter deficiency 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
Is anyone studying this?
18
18 papers have ever been indexed 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=183) is 38.
18 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
17 in the last 10 years · medium confidence · 38.3th percentile (publications denominator)
Is a treatment being tested?
0
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).
Data as of 26 July 2026
0
no matched trials for riboflavin transporter deficiency, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (SLC52A3).
GenCC classification: Definitive.
Who's working on it?
135
Distinct author names in 18 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.
- 01Lan L2 papers · 2026
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Papers in Europe PMC - 02Xiong F2 papers · 2026
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Papers in Europe PMC - 03Yu L2 papers · 2026
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Papers in Europe PMC - 04Abdelhay S1 paper · 2022
Department of Pediatric, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.
Papers in Europe PMC - 05Abdulwahab F1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 06Abouelhoda M1 paper · 2023
Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mabouelhoda@kfshrc.edu.sa.
Papers in Europe PMC - 07Abuyousef O1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 08Alamr M1 paper · 2022
Genetic and Metabolic Department, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.
Papers in Europe PMC - 09Albaradie R1 paper · 2022
Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Ammar Bin Thabit Street, Dammam, 31444, Kingdom of Saudi Arabia.
Papers in Europe PMC - 10Albreacan M1 paper · 2023
Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category riboflavin transporter deficiency also has no matched interventional trial. See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"RFVT2-related riboflavin transporter deficiency" OR "Riboflavin transporter deficiency 2" OR "Brown-Vialetto-Van Laere syndrome 1" OR "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" OR "SLC52A3 Brown-Vialetto-van Laere syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RFVT2-related riboflavin transporter deficiency" OR "Riboflavin transporter deficiency 2" OR "Brown-Vialetto-Van Laere syndrome 1" OR "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" OR "SLC52A3 Brown-Vialetto-van Laere syndrome" OR "SLC52A3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:211530 UMLS:C0796274 NCIT:C133724
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: RTD2
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