RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:65284

Biotin-thiamine-responsive basal ganglia disease

medium confidenceDisorder

Also known as: BBGD · BTBGD · Biotin-responsive basal ganglia disease

Publications

283

80.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,223

Distinct authors in sample

Gene link

SLC19A3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by subacute with confusion, , and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.

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)

THMD2 · biotin-responsive basal ganglia disease · biotin-thiamine-responsive basal ganglia disease · encephalopathy, thiamine-responsive · thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type) · thiamine-responsive encephalopathy

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.

  1. Gene identifiedPresent

    Definitive — SLC19A3

  2. LiteraturePresent

    283 matched papers (223 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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 (SLC19A3).

GenCC classification: Definitive.

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?

283

283 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.

283 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).

223 in the last 10 years · medium confidence · 80.4th percentile (publications denominator)

Phrase hits: 283 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,223

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.

  1. 01
    Alfadhel M14 papers · 2024

    Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.

    Papers in Europe PMC
  2. 02
    Tabarki B10 papers · 2023

    Division of Pediatric Neurology, Department of Pediatrics, Riyadh Military Hospital, Kingdom of Saudi Arabia.

    Papers in Europe PMC
  3. 03
    Alsharhan H5 papers · 2026

    From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.

    Papers in Europe PMC
  4. 04
    Marafi D5 papers · 2026

    From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.

    Papers in Europe PMC
  5. 05
    Sharma S5 papers · 2024

    Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi.

    Papers in Europe PMC
  6. 06
    Albash B4 papers · 2026

    From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.

    Papers in Europe PMC
  7. 07
    Artuch R4 papers · 2021

    2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.

    Papers in Europe PMC
  8. 08
    Liu Y4 papers · 2021

    Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.

    Papers in Europe PMC
  9. 09
    Ortigoza-Escobar JD4 papers · 2020

    1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  10. 10
    Saini AG4 papers · 2022

    Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, India.

    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.

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.

Open the complete matched 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 2026-07-26

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.

"Biotin-thiamine-responsive basal ganglia disease" OR "BTBGD" OR "Biotin-responsive basal ganglia disease" OR "THMD2" OR "encephalopathy, thiamine-responsive" OR "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)" OR "thiamine-responsive encephalopathy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Basal ganglia disease, biotin-responsive

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

"Biotin-thiamine-responsive basal ganglia disease" OR "BTBGD" OR "Biotin-responsive basal ganglia disease" OR "THMD2" OR "encephalopathy, thiamine-responsive" OR "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)" OR "thiamine-responsive encephalopathy" OR "Basal ganglia disease, biotin-responsive" OR "SLC19A3"

Recall-expansion terms: SLC19A3

Interventional trials matched via: recall-expansion (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BBGD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "thiamine-responsive encephalopathy" also appears on ORPHA:199348

Ingested 2026-07-27T01:16:55.662Z