Details of Disease

General Information of Disease (ID: DISONDW6)

• Disease Name: Thiamine deficiency
• Synonyms: thiamine deficiency; Beri Beri; vitamin B1 deficiency
• Disease Class: 5B55-5B5F: Vitamin deficiency
• Definition: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.|Editor note: check if beriberi should be made a subclass of TD
• Disease Hierarchy:
  DISH9AYM: Vitamin B deficiency
  DISONDW6: Thiamine deficiency
• ICD Code: ICD-11: ICD-11: 5B5A
• Disease Identifiers:
  MONDO ID: MONDO_0006676
  MESH ID: D001602
  UMLS CUI: C0005122
  MedGen ID: 543
  SNOMED CT ID: 36656008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Thiamine Hydrochloride	DM3185A	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TKT	TT04R7I	Limited	Altered Expression	[2]
SLC19A3	TT9BTWM	moderate	Biomarker	[3]
SLC19A2	TT2A1DZ	Strong	Biomarker	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35F3	DTEHSG0	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDP1	OT82RTMT	Limited	Biomarker	[6]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] Treatment of rats with the JAK-2 inhibitor fedratinib does not lead to experimental Wernicke's encephalopathy.Neurosci Lett. 2017 Mar 6;642:163-167. doi: 10.1016/j.neulet.2017.01.041. Epub 2017 Jan 18.
• [3] Drug-nutrient interactions: discovering prescription drug inhibitors of the thiamine transporter ThTR-2 (SLC19A3).Am J Clin Nutr. 2020 Jan 1;111(1):110-121. doi: 10.1093/ajcn/nqz255.
• [4] Molecular genetics of alcohol-related brain damage.Alcohol Alcohol. 2009 Mar-Apr;44(2):166-70. doi: 10.1093/alcalc/agn101. Epub 2008 Dec 18.
• [5] Genetic implication of a novel thiamine transporter in human hypertension. J Am Coll Cardiol. 2014 Apr 22;63(15):1542-55.
• [6] Stabilization of the hypoxia-inducible transcription Factor-1 alpha (HIF-1) in thiamine deficiency is mediated by pyruvate accumulation.Toxicol Appl Pharmacol. 2018 Sep 15;355:180-188. doi: 10.1016/j.taap.2018.07.004. Epub 2018 Jul 6.