MCID: BRB001
MIFTS: 44

Beriberi

Categories: Cardiovascular diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Beriberi

MalaCards integrated aliases for Beriberi:

Name: Beriberi 12 74 20 36 54 44 15 17 71 32
Thiamine Deficiency 20 54 17 71 32
Vitamin B1 Deficiency 20

Classifications:



External Ids:

Disease Ontology 12 DOID:13725
KEGG 36 H01566
ICD9CM 34 265.0
MeSH 44 D001602
NCIt 50 C34418
SNOMED-CT 67 267491008
ICD10 32 E51 E51.1
UMLS 71 C0005122 C0039841

Summaries for Beriberi

GARD : 20 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.

MalaCards based summary : Beriberi, also known as thiamine deficiency, is related to dry beriberi and wernicke encephalopathy. An important gene associated with Beriberi is TKT (Transketolase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Levoleucovorin and Metformin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and cortex.

Disease Ontology : 12 A thiamine deficiency disease that is characterized by being severe and chronic.

KEGG : 36 Beriberi is the classical syndrome caused by thiamine (vitamin B1) deficiency. Beriberi has two major clinical manifestations, dry beriberi characterized by neurologic manifestations that include peripheral neuropathy and acute encephalopathy, and wet beriberi with cardiovascular involvement including high cardiac output heart failure. Rarely, a fulminant or pernicious variant, termed Shoshin beriberi may occur, and is characterized by cardiovascular collapse. Appropriate management of this form is mandatory since thiamine supplementation leads to rapid recovery while untreated forms are fatal.

Wikipedia : 74 Thiamine deficiency is a medical condition of low levels of thiamine (vitamin B1). A severe and chronic... more...

Related Diseases for Beriberi

Diseases in the Beriberi family:

Dry Beriberi

Diseases related to Beriberi via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 285)
# Related Disease Score Top Affiliating Genes
1 dry beriberi 31.3 TKT SLC35F3 SLC25A19 SLC19A3 SLC19A2 OGDH
2 wernicke encephalopathy 31.1 TPK1 TKT THTPA SLC19A3 SLC19A2
3 wet beriberi 30.8 TKT SLC35F3 SLC19A3 SLC19A2 HACL1 EPHA3
4 thiamine-responsive megaloblastic anemia syndrome 29.6 SLC19A3 SLC19A2
5 megaloblastic anemia 29.4 TPK1 TKT SLC19A3 SLC19A2
6 biotin deficiency 29.3 SLC5A6 SLC19A3
7 thiamine deficiency disease 29.3 TPK1 TKT THTPA SLC35F3 SLC25A19 SLC19A3
8 wernicke-korsakoff syndrome 29.2 TPK1 TKT THTPA SLC25A19 SLC19A3 SLC19A2
9 thiamine metabolism dysfunction syndrome 2 28.9 TPK1 SLC5A6 SLC19A3 SLC19A2
10 korsakoff's amnesic syndrome 11.2
11 cerebral beriberi 11.1
12 lactic acidosis 10.5
13 polyneuropathy 10.4
14 encephalopathy 10.4
15 neuropathy 10.4
16 metabolic acidosis 10.4
17 alcohol dependence 10.3
18 peripheral nervous system disease 10.3
19 cardiogenic shock 10.2
20 neuroblastoma 10.2
21 subacute delirium 10.2
22 heart disease 10.2
23 pathologic nystagmus 10.2
24 kearns-sayre syndrome 10.1
25 leptin deficiency or dysfunction 10.1
26 pulmonary edema 10.1
27 guillain-barre syndrome 10.1
28 paresthesia 10.1
29 cerebellar degeneration 10.1
30 pulmonary hypertension 10.1
31 alcohol use disorder 10.1
32 folate malabsorption, hereditary 10.1 SLC19A3 SLC19A2
33 ataxia and polyneuropathy, adult-onset 10.0
34 congestive heart failure 10.0
35 huntington disease 10.0
36 ptosis 10.0
37 hepatic coma 10.0
38 hepatic encephalopathy 10.0
39 allergic encephalomyelitis 10.0
40 atrial standstill 1 10.0
41 graves disease 1 10.0
42 cardiac arrest 10.0
43 short bowel syndrome 10.0
44 acute kidney failure 10.0
45 myopathy 10.0
46 pellagra 10.0
47 amyotrophic lateral sclerosis 1 10.0
48 leukemia, acute lymphoblastic 10.0
49 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
50 chorea, childhood-onset, with psychomotor retardation 10.0

Graphical network of the top 20 diseases related to Beriberi:



Diseases related to Beriberi

Symptoms & Phenotypes for Beriberi

Drugs & Therapeutics for Beriberi

Drugs for Beriberi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
4 Cytochrome P-450 Enzyme Inhibitors Phase 4
5 Folic Acid Antagonists Phase 4
6 Anti-Infective Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9 Hypoglycemic Agents Phase 4
10 Antimalarials Phase 4
11 Pharmaceutical Solutions Phase 4
12
Ethanol Approved Phase 2, Phase 3 64-17-5 702
13
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
14 Anticonvulsants Phase 2, Phase 3
15 Anesthetics Phase 2, Phase 3
16 Hormones Phase 2, Phase 3
17 calcium channel blockers Phase 2, Phase 3
18 Analgesics Phase 2, Phase 3
19 Calcium, Dietary Phase 2, Phase 3
20 Anti-Arrhythmia Agents Phase 2, Phase 3
21 Tocolytic Agents Phase 2, Phase 3
22
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 70-16-6, 59-43-8 1130
25 Trace Elements Phase 2
26 Micronutrients Phase 2
27 Vitamins Phase 2
28 Vitamin B Complex Phase 2
29 Folate Phase 2
30 Vitamin B9 Phase 2
31 Thiamin Phase 2
32 Nutrients Phase 2
33 Protective Agents Phase 2
34 pyruvate Phase 2
35
Iron Approved Phase 1 7439-89-6 23925 29936
36
Thiamine Pyrophosphate Phase 1 136-09-4 1132 5431

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery - a Pilot Study Unknown status NCT01524315 Phase 4 Vitamin B1-ratiopharm;Placebo
2 Thiamin Deficiency in Obese Thai Children Completed NCT02464865 Phase 4 Thiamine 1;Thiamine 2
3 The Effect of SLC19A3 Inhibition on the Pharmacokinetics of Thiamine Recruiting NCT03746106 Phase 4 Trimethoprim;Metformin
4 The Thiamine Administration After Cardiac Surgery Trial Recruiting NCT04641104 Phase 4 Thiamine 500 MG;Placebo
5 Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Congenital Heart Disease Surgery With Cardiopulmonary Bypass Procedure and Oral Thyroid Supplementation Active, not recruiting NCT04453761 Phase 4 Neurobion;Placebo
6 A Prospective Randomised Controlled Trial of the Effect of Magnesium Sulphate Administration on Red Cell Transketolase Activity in Alcohol Dependent Patients at Risk of Wernicke Korsakoff Syndrome Treated With Thiamine Completed NCT03466528 Phase 2, Phase 3 Magnesium Sulfate;Pabrinex
7 Randomized Placebo Controlled Trial of High Dose Intravenous Thiamine for the Prevention of Delirium in Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT03263442 Phase 2 Thiamine;Normal saline
8 Thiamine as a Renal Protective Agent in Septic Shock: A Randomized, Controlled Study Recruiting NCT03550794 Phase 2 Thiamine Hydrochloride;Placebo
9 Randomized, Double-blind, Placebo-controlled Trial of the Effect of Thiamine on Oxygen Consumption After In-hospital Cardiac Arrest. Recruiting NCT02974257 Phase 2 Thiamine
10 Thiamin Fortified Fish Sauce as a Means of Combating Infantile Beriberi in Rural Cambodia Completed NCT02221063 Phase 1
11 Pharmacokinetics of Thiamine in Breastfeeding Mothers and Infants Completed NCT01864057 Phase 1 thiamine hydrochloride 100 mg
12 Thiamine Supplementation in Heart Failure: a Pilot Randomized Controlled Crossover Trial Active, not recruiting NCT03228030 Phase 1
13 Thiamine Supplementation in Patients With Septic Shock: A Randomized, Double Blind, Placebo Controlled Trial Withdrawn NCT03122678 Phase 1 Thiamine;Placebos
14 Determination Study of Dry Beriberi in Patients Native to the Comoro Archipelago, in Mayotte (MABECO). Unknown status NCT00934349
15 The Relation Between Acute Changes in the Systemic Inflammatory Response, Thiamine and Magnesium Concentrations and Transketolase Activity After Elective Knee Arthroplasty. Completed NCT03554668
16 The Prevalence of Thiamin Deficiency in Ambulatory Patients With Heart Failure Completed NCT00953823
17 A Study to Establish a Case Definition of Thiamine Responsive Disorders (TRD) Among Infants in Lao PDR Active, not recruiting NCT03626337 Thiamine 100 MG/ML
18 Improving Estimates of the Global Burden of Thiamine Deficiency Disorders and Approaches to Their Control: Trial of Thiamine Supplementation in Cambodia Active, not recruiting NCT03616288

Search NIH Clinical Center for Beriberi

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Thiamine hydrochloride
Thiamine Mononitrate

Cochrane evidence based reviews: beriberi

Genetic Tests for Beriberi

Anatomical Context for Beriberi

MalaCards organs/tissues related to Beriberi:

40
Heart, Brain, Cortex, Thalamus, Kidney, Endothelial, Cerebellum

Publications for Beriberi

Articles related to Beriberi:

(show top 50) (show all 2405)
# Title Authors PMID Year
1
Thiamine deficiency-related brain dysfunction in chronic liver failure. 61 54
19067139 2009
2
Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. 61 54
15687431 2005
3
Neuronal localization of the 25-kDa specific thiamine triphosphatase in rodent brain. 54 61
15120844 2004
4
Thiamine deficiency and malaria in adults from southeast Asia. 61 54
10028983 1999
5
Clinical relevance of thiamine status amongst hospitalized elderly patients. 54 61
9933732 1999
6
Thiamine deficiency decreases steady-state transketolase and pyruvate dehydrogenase but not alpha-ketoglutarate dehydrogenase mRNA levels in three human cell types. 54 61
9521628 1998
7
Thiamine pyrophosphate effect and normalized erythrocyte transketolase activity ratio in Wernicke-Korsakoff patients and acute alcoholics undergoing detoxification. 61 54
8949966 1996
8
Thiamine pyrophosphate-requiring enzymes are altered during pyrithiamine-induced thiamine deficiency in cultured human lymphoblasts. 61 54
8683340 1996
9
Brain thiamine, its phosphate esters, and its metabolizing enzymes in Alzheimer's disease. 61 54
8619543 1996
10
Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes. 61 54
8838793 1996
11
Reduced activities of thiamine-dependent enzymes in brains of alcoholics in the absence of Wernicke's encephalopathy. 54 61
7485819 1995
12
Thiamine deficiency in cultured neuroblastoma cells: effect on mitochondrial function and peripheral benzodiazepine receptors. 61 54
7722487 1995
13
Heterogeneous expression of transketolase in rat brain. 61 54
7861132 1995
14
The thiamine-dependent hysteretic behavior of human transketolase: implications for thiamine deficiency. 61 54
7861245 1995
15
Thiamine utilization in the pathogenesis of alcohol-induced brain damage. 54 61
8974347 1994
16
Cloning of human transketolase cDNAs and comparison of the nucleotide sequence of the coding region in Wernicke-Korsakoff and non-Wernicke-Korsakoff individuals. 54 61
8419340 1993
17
Alcohol use and dementia: new research directions. 61
33394727 2021
18
Thiamine-responsive acute severe pulmonary hypertension in exclusively breastfeeding infants: a prospective observational study. 61
32883659 2021
19
Thiamine-producing lactic acid bacteria and their potential use in the prevention of neurodegenerative diseases. 61
33547923 2021
20
[Refeeding syndrome]. 61
33549330 2021
21
Patient-Centric Assessment of Thiamine Status in Dried Blood Volumetric Absorptive Microsamples Using LC-MS/MS Analysis. 61
33405897 2021
22
Refeeding syndrome in a woman with pancreatitis: a case report. 61
33535848 2021
23
Region-selective permeability of the blood-brain barrier to α-aminoisobutyric acid during thiamine deficiency and following its reversal. 61
33245475 2021
24
A Case of Thiamine Deficiency Post Roux-en-Y Gastric Bypass Surgery. 61
32931764 2021
25
Thiamine deficiency unrelated to alcohol consumption in high-income countries: a literature review. 61
33576090 2021
26
Assessment of salt intake to consider salt as a fortification vehicle for thiamine in Cambodia. 61
33415757 2021
27
Thiamine fortification strategies in low- and middle-income settings: a review. 61
33496051 2021
28
An Unusual Presentation of Catatonia in Non-alcoholic Wernicke Encephalopathy. 61
33564534 2021
29
Don't seek, don't find: The diagnostic challenge of Wernicke's encephalopathy. 61
32551830 2021
30
Thiamine deficiency in a dog associated with exclusive consumption of boiled sweet potato (Ipomoea batatas): Serial changes in clinical findings, magnetic resonance imaging findings and blood lactate and thiamine concentrations. 61
32966700 2021
31
Gayet Wernicke's encephalopathy with cortical damage following a subtotal gastrectomy: An uncommon association. 61
33204379 2021
32
[Anorexia nervosa: Abnormalities in hematological and biochemical parameters]. 61
33461787 2021
33
Sensorineural Hearing Loss and Wernicke Encephalopathy: A Case Report and Literature Review. 61
32521993 2021
34
High proportion of thiamine deficiency in referred cancer patients with delirium: a retrospective descriptive study. 61
33514871 2021
35
Modeling thiamine fortification: a case study from Kuria atoll, Republic of Kiribati. 61
33438290 2021
36
Association between thiamine deficiency and hyperlactatemia among critically ill patients with diabetes infected by SARS-CoV-2. 61
33448683 2021
37
Alcohol Withdrawal Syndrome in Neurocritical Care Unit: Nicotine Replacement Therapy and Thiamine Deficiency. 61
33403577 2021
38
Alcohol Withdrawal Syndrome in Neurocritical Care Unit: Nicotine Replacement Therapy and Thiamine Deficiency. 61
33403578 2021
39
Thiamine Status in Children with Septic Shock from a Developing Country: A Prospective Case-Control Study. 61
33381852 2020
40
The rediscovery of thiamine deficiency disorders at a secondary level mission hospital in Northeast India. 61
33385182 2020
41
Pathophysiology, prevention, and treatment of beriberi after gastric surgery. 61
32388553 2020
42
Erythrocyte transketolase activity coefficient (ETKAC) assay protocol for the assessment of thiamine status. 61
33354793 2020
43
The Effect of Chronic Ethanol Exposure and Thiamine Deficiency on Myelin-related Genes in the Cortex and the Cerebellum. 61
33067870 2020
44
Thiamine deficiency disorders: a clinical perspective. 61
33305487 2020
45
Prevalence of thiamine deficiency is significant in patients undergoing primary bariatric surgery. 61
33478908 2020
46
Comparison of Thiamin Diphosphate High-Performance Liquid Chromatography and Erythrocyte Transketolase Assays for Evaluating Thiamin Status in Malaria Patients without Beriberi. 61
32996449 2020
47
Cerebellar and cortical TLR4 activation and behavioral impairments in Wernicke-Korsakoff Syndrome: Pharmacological effects of oleoylethanolamide. 61
33271211 2020
48
Rare case of Marchiafava-Bignami disease due to thiamine deficiency and malnutrition. 61
33303506 2020
49
Blood thiamine pyrophosphate concentration and its correlation with the stage of diabetic retinopathy. 61
32715366 2020
50
Wernicke's Encephalopathy in Alcohol Use Disorder Patients after Liver Transplantation: A Case Series and Review of Literature. 61
33255603 2020

Variations for Beriberi

Expression for Beriberi

Search GEO for disease gene expression data for Beriberi.

GO Terms for Beriberi

Biological processes related to Beriberi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 SLC5A6 SLC25A19 SLC19A3 SLC19A2
2 generation of precursor metabolites and energy GO:0006091 9.43 THTPA OGDH
3 vitamin transport GO:0051180 9.37 SLC19A3 SLC19A2
4 thiamine transmembrane transport GO:0071934 9.33 SLC25A19 SLC19A3 SLC19A2
5 vitamin transmembrane transport GO:0035461 9.32 SLC19A3 SLC19A2
6 thiamine metabolic process GO:0006772 9.26 TPK1 THTPA
7 thiamine transport GO:0015888 9.13 SLC35F3 SLC19A3 SLC19A2
8 thiamine-containing compound metabolic process GO:0042723 9.02 TPK1 THTPA SLC25A19 SLC19A3 SLC19A2

Molecular functions related to Beriberi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.43 TKT THTPA HACL1
2 vitamin transmembrane transporter activity GO:0090482 9.16 SLC19A3 SLC19A2
3 thiamine pyrophosphate binding GO:0030976 9.13 TKT OGDH HACL1
4 thiamine transmembrane transporter activity GO:0015234 8.8 SLC25A19 SLC19A3 SLC19A2

Sources for Beriberi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....