biotin-responsive basal ganglia disease
Findings
No curated finding names biotin-responsive basal ganglia disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
Definition from the Mondo Disease Ontology (MONDO:0011841), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pyramidal signHPOHP:0007256
- 2 of 2 reported patients
- ComaHPOHP:0001259
- 10 of 10 reported patients
- Developmental regressionHPOHP:0002376
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 15 of 15 reported patients
- Loss of speechHPOHP:0002371
- 2 of 2 reported patients
- Cogwheel rigidityHPOHP:0002396
Show the remaining 12
- Babinski signHPOHP:0003487
- 5 of 10 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- MutismHPOHP:0002300
- 1 of 2 reported patients
- PtosisHPOHP:0000508
- 1 of 2 reported patients
- VomitingHPOHP:0002013
- 5 of 10 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC19A3HGNC:16266
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: biotin-responsive basal ganglia disease
- Also called
- BBGDbiotin-thiamine-responsive basal ganglia diseaseBTBGDencephalopathy, thiamine-responsivethiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)thiamine-responsive encephalopathyTHMD2