Details of Disease

General Information of Disease (ID: DISKPI9G)

• Disease Name: Biotin-responsive basal ganglia disease
• Synonyms: basal ganglia disease, biotin-responsive; THMD2; encephalopathy, thiamine-responsive; thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); biotin-thiamine-responsive basal ganglia disease; BBGD; thiamine-responsive encephalopathy; thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); BTBGD
• Disease Hierarchy:
  DIS2OFSP: Thiamine-responsive dysfunction syndrome
  DISD715V: Hereditary neurological disease
  DISQ7PDT: Neurotoxicity
  DIS2IRZ8: Basal ganglia disorder
  DISKPI9G: Biotin-responsive basal ganglia disease
• Disease Identifiers:
  MONDO ID: MONDO_0011841
  MESH ID: C537658
  UMLS CUI: C1843807
  OMIM ID: 607483
  MedGen ID: 375289
  Orphanet ID: 65284
  SNOMED CT ID: 703522009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC19A3	TT9BTWM	Definitive	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC19A3	DT39CEA	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TPK1	OTCHPUD0	Strong	Genetic Variation	[3]
SLC19A3	OTOWP1CT	Definitive	Autosomal recessive	[2]

References

• [1] Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26.
• [2] Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med. 2009 Apr 23;360(17):1792-4. doi: 10.1056/NEJMc0809100.
• [3] Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.Clin Chim Acta. 2019 Dec;499:13-15. doi: 10.1016/j.cca.2019.07.034. Epub 2019 Aug 9.