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ORPHA:65284

Biotin-thiamine-responsive basal ganglia disease

low confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,076

Trials

0

Interventional, condition-specific

Researchers

1,223

Distinct authors in sample

Gene link

SLC19A3

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC19A3

  2. LiteraturePresent

    1,076 matched papers (790 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Lethargy; Facial palsy; Inability to walk) Source

  4. Animal modelPresent

    4 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 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 (SLC19A3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0011841

  • Lethargy
  • Facial palsy
  • Inability to walk
  • Dystonia
  • Gait ataxia

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

1 associated chemical · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Biotin · therapeutic

Pathways: Vitamin digestion and absorption; Metabolism; Vitamin B1 (thiamin) metabolism; Metabolism of water-soluble vitamins and cofactors; Metabolism of vitamins and cofactors

MyDisease.info · MONDO:0011841

Literature

Is anyone studying this?

1,076

1,076 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,076 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).

790 in the last 10 years · low confidence

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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

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 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Biotin-thiamine-responsive basal ganglia disease — 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.

("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 (MESH:"Basal ganglia disease, biotin-responsive") OR ("SLC19A3" OR "SLC19A3 syndrome" OR "SLC19A3-related")

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (1076) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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