MCID: BRB001
MIFTS: 45

Beriberi

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

Aliases & Classifications for Beriberi

MalaCards integrated aliases for Beriberi:

Name: Beriberi 12 76 53 37 55 44 15 73
Thiamine Deficiency 53 55 73
Vitamin B1 Deficiency 53

Classifications:



External Ids:

Disease Ontology 12 DOID:13725
ICD9CM 35 265.0
MeSH 44 D001602
NCIt 50 C34418
SNOMED-CT 68 35843007 36656008
KEGG 37 H01566

Summaries for Beriberi

NIH Rare Diseases : 53 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 wernicke encephalopathy and wernicke-korsakoff syndrome. An important gene associated with Beriberi is TKT (Transketolase), and among its related pathways/superpathways is Vitamin digestion and absorption. The drugs Thiamine and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotype is behavior/neurological.

Wikipedia : 76 Thiamine deficiency is a medical condition of low levels of thiamine (vitamin B1). A severe and chronic... more...

Related Diseases for Beriberi

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 wernicke encephalopathy 32.2 SLC19A3 TKT
2 wernicke-korsakoff syndrome 29.6 SLC19A2 TKT
3 cerebral beriberi 12.2
4 korsakoff's amnesic syndrome 11.3
5 heart disease 10.7
6 encephalopathy 10.4
7 polyneuropathy 10.3
8 neuropathy 10.3
9 lactic acidosis 10.2
10 neuroblastoma 10.2
11 pulmonary hypertension 10.1
12 cardiogenic shock 10.1
13 optic nerve disease 10.1
14 metabolic acidosis 10.0
15 guillain-barre syndrome 10.0
16 congestive heart failure 10.0
17 allergic encephalomyelitis 10.0
18 degos 'en cocarde' erythrokeratoderma 10.0
19 hypoxia 10.0
20 alcohol dependence 9.9
21 infantile liver failure syndrome 1 9.9
22 end stage renal failure 9.9
23 leukemia 9.9
24 liver disease 9.9
25 lymphoma 9.9
26 hepatorenal syndrome 9.9
27 dementia 9.9
28 epilepsy 9.9
29 peripheral nervous system disease 9.9
30 glioma 9.9
31 impotence 9.9
32 oral cavity cancer 9.9
33 schizophrenia 9.9
34 myocardial infarction 9.9
35 malaria 9.9
36 microvascular complications of diabetes 3 9.9
37 microvascular complications of diabetes 4 9.9
38 microvascular complications of diabetes 6 9.9
39 microvascular complications of diabetes 7 9.9
40 angina pectoris 9.9
41 dilated cardiomyopathy 9.9
42 morbid obesity 9.9
43 spinal stenosis 9.9
44 short bowel syndrome 9.9
45 hemopericardium 9.9
46 pericardial effusion 9.9
47 critical illness polyneuropathy 9.9
48 ischemia 9.9
49 purpura 9.9
50 myopathy 9.9

Graphical network of the top 20 diseases related to Beriberi:



Diseases related to Beriberi

Symptoms & Phenotypes for Beriberi

MGI Mouse Phenotypes related to Beriberi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 EPHA3 SLC19A2 SLC19A3 TKT TRPV3

Drugs & Therapeutics for Beriberi

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-43-8, 70-16-6 1130
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
3 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Vitamin B9 Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Thiamin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Folate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
11
Ethanol Approved Phase 2, Phase 3 64-17-5 702
12 Anticonvulsants Phase 2, Phase 3
13 calcium channel blockers Phase 2, Phase 3
14 Calcium, Dietary Phase 2, Phase 3
15 Anesthetics Phase 2, Phase 3
16 Analgesics Phase 2, Phase 3
17 Peripheral Nervous System Agents Phase 2, Phase 3
18 Central Nervous System Depressants Phase 2, Phase 3
19 Tocolytic Agents Phase 2, Phase 3
20 Anti-Arrhythmia Agents Phase 2, Phase 3
21 pyruvate Phase 2,Not Applicable
22 Protective Agents Phase 2
23
Iron Approved Phase 1 7439-89-6 23925
24
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
25
leucovorin Approved Not Applicable 58-05-9 6006 143
26
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
27
Cobalamin Experimental Not Applicable 13408-78-1 6438156
28 Hematinics Not Applicable
29 Vitamin B12 Not Applicable
30 Vitamin B 12 Not Applicable

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery Unknown status NCT01524315 Phase 4 Vitamin B1-ratiopharm;Placebo
2 Prevention of Renal Complications of Diabetes With Thiamine Unknown status NCT01725412 Phase 4
3 Thiamin Deficiency in Obese Thai Children Completed NCT02464865 Phase 4 Thiamine 1;Thiamine 2
4 A Trial of Thiamin Supplementation in Patients With Heart Failure Completed NCT00959075 Phase 4
5 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4 Thiamine Hydrochloride
6 The Effect of SLC19A3 Inhibition on the Pharmacokinetics of Thiamine Not yet recruiting NCT03746106 Phase 4 Trimethoprim;Metformin
7 Alcohol: Thiamine and or Magnesium 1 Recruiting NCT03466528 Phase 2, Phase 3 Magnesium Sulfate;Pabrinex
8 Thiamine as a Metabolic Resuscitator in Septic Shock Completed NCT01070810 Phase 1, Phase 2 D5W;Thiamine
9 Thiamine as a Renal Protective Agent in Septic Shock Recruiting NCT03550794 Phase 2 Thiamine Hydrochloride;Placebo
10 Thiamine vs. Placebo to Increase Oxygen Consumption After Cardiac Arrest Recruiting NCT02974257 Phase 2 Thiamine
11 High Dose Intravenous Thiamine for the Prevention of Delirium in Allogeneic Hematopoietic Stem Cell Transplantation Enrolling by invitation NCT03263442 Phase 2 Thiamine;Normal saline
12 Thiamin Fortified Fish Sauce as a Means of Combating Infantile Beriberi in Rural Cambodia Completed NCT02221063 Phase 1
13 Pharmacokinetics of Thiamine in Breastfeeding Mothers and Infants Completed NCT01864057 Phase 1 thiamine hydrochloride 100 mg
14 Thiamine Supplementation in Heart Failure: a Pilot Randomized Controlled Crossover Trial Recruiting NCT03228030 Phase 1
15 Thiamine Supplementation in Patients With Septic Shock Recruiting NCT03122678 Phase 1 Thiamine;Placebos
16 Study of Dry Beriberi in Mayotte, Comoro Archipelago Unknown status NCT00934349
17 Thiamin (Vitamin B1) Levels in Eating Disorder Adolescent Patients Unknown status NCT02164487
18 From Uncomplicated Alcoholism to Korsakoff's Syndrome Unknown status NCT01455207 Not Applicable
19 The Prevalence of Thiamin Deficiency in Ambulatory Patients With Heart Failure Completed NCT00953823
20 Thiamine Supplement in Patients With Severe Hyperthyroidism Completed NCT02767245 Not Applicable Thiamine
21 Natural Versus Synthetic Vitamin B Complexes in Human Completed NCT03444155 Not Applicable
22 Systemic Inflammatory Response: Thiamine and Magnesium Status (Sir TaM Study) Recruiting NCT03554668
23 Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study Recruiting NCT03724136 Not Applicable
24 Trial of Thiamine Supplementation in Cambodia Not yet recruiting NCT03616288 Not Applicable
25 Thiamine Responsive Disorders (TRD) Among Infants in Lao PDR Not yet recruiting NCT03626337 Thiamine 100 MG/ML

Search NIH Clinical Center for Beriberi

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: beriberi

Genetic Tests for Beriberi

Anatomical Context for Beriberi

MalaCards organs/tissues related to Beriberi:

41
Heart, Brain, Liver, Kidney, T Cells, B Cells, Monocytes

Publications for Beriberi

Articles related to Beriberi:

(show top 50) (show all 1038)
# Title Authors Year
1
Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient. ( 29128624 )
2018
2
Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency. ( 29715193 )
2018
3
Wet beriberi with multiple organ failure remarkably reversed by thiamine administration: A case report and literature review. ( 29489643 )
2018
4
Gastrointestinal beriberi: a forme fruste of Wernicke's encephalopathy? ( 29982183 )
2018
5
Beriberi disease in an 11-year-old girl with total colectomy. ( 30397502 )
2018
6
The Wrong Turn to Tijuana: Dry Beriberi after Gastric Bypass Surgery with Incidental Spinal Stenosis. ( 30519179 )
2018
7
Review of thiamine deficiency disorders: Wernicke encephalopathy and Korsakoff psychosis. ( 30281514 )
2018
8
Stabilization of the hypoxia-inducible transcription Factor-1 alpha (HIF-1α) in thiamine deficiency is mediated by pyruvate accumulation. ( 30008376 )
2018
9
Subclinical thiamine deficiency identified by preoperative evaluation in an ovarian cancer patient: Diagnosis and the need for preoperative thiamine measurement. ( 30168403 )
2018
10
The medial vestibular nuclei, a vulnerable target in thiamine deficiency. ( 29143209 )
2018
11
Subclinical thiamine deficiency in patients with abdominal cancer. ( 29277168 )
2018
12
Microglial activation and vascular responses that are associated with early thalamic neurodegeneration resulting from thiamine deficiency. ( 29427613 )
2018
13
Myocardial ischemia in an adolescent secondary to nutritional thiamine deficiency. ( 29686552 )
2018
14
Prevalence and predictors of postoperative thiamine deficiency after vertical sleeve gastrectomy. ( 29803410 )
2018
15
Re-emergence of thiamine deficiency disease in the Pacific islands (2014-15): A case-control study. ( 29879174 )
2018
16
The 11th pitfall: thiamine deficiency. ( 29934922 )
2018
17
Prevalence and predictors of postoperative thiamine deficiency after vertical sleeve gastrectomy. ( 29960866 )
2018
18
Missing the early signs of thiamine deficiency. A case associated with a liquid-only diet. ( 30092713 )
2018
19
Thiamine deficiency and cardiovascular disorders. ( 30143411 )
2018
20
Thiamine Deficiency: An Important Consideration in Critically Ill Patients. ( 30146080 )
2018
21
Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs. ( 30151974 )
2018
22
Thiamine deficiency contributes to synapse and neural circuit defects. ( 30231926 )
2018
23
Thiamine Deficiency Induced Dietary Disparity Promotes Oxidative Stress and Neurodegeneration. ( 30319188 )
2018
24
Fatty acid signatures connect thiamine deficiency with the diet of the Atlantic salmon (Salmo salar) feeding in the Baltic Sea. ( 30369636 )
2018
25
Retrospective analysis of thiamine deficiency in allogeneic stem cell transplant patients. ( 30392066 )
2018
26
Prevalence of thiamine deficiency in older hospitalized patients. ( 30464433 )
2018
27
Beriberi Outbreak Among Unauthorised Immigrants in a Detention Camp in Malaysia. ( 29159485 )
2017
28
Thiamine deficiency, oxidative metabolic pathways and ethanol-induced neurotoxicity: how poor nutrition contributes to the alcoholic syndrome, as Marchiafava-Bignami disease. ( 28225048 )
2017
29
Wet Beriberi Associated with Hikikomori Syndrome. ( 29188542 )
2017
30
Shoshin beriberi-thiamine responsive pulmonary hypertension in exclusively breastfed infants: A study from northern India. ( 28228301 )
2017
31
Acute beriberi neuropathy mimicking Guillain-BarrAc syndrome after a strict vegetarian diet. ( 28761634 )
2017
32
Dutch Research on Beriberi: I. Christiaan Eijkman's Research and Evaluation of Kanehiro Takaki's Diet Reforms of the Japanese Navy. ( 30549780 )
2017
33
Consideration of alternative causes of lactic acidosis: Thiamine deficiency in malignancy. ( 28539246 )
2017
34
Thiamine Deficiency Leading to Refractory Lactic Acidosis in a Pediatric Patient. ( 29119026 )
2017
35
B-cell lymphoma, thiamine deficiency, and lactic acidosis. ( 28127139 )
2017
36
Moradi H, Said HM. Functional thiamine deficiency in end-stage renal disease: malnutrition despite ample nutrients. Kidney Int. 2016;90:252-254. ( 29153143 )
2017
37
High rate of thiamine deficiency among inpatients with cancer referred for psychiatric consultation: results of a single site prevalence study. ( 27228202 )
2017
38
The influence of infantile thiamine deficiency on primary dentition. ( 27312377 )
2017
39
Thiamine Deficiency and Neurodegeneration: the Interplay Among Oxidative Stress, Endoplasmic Reticulum Stress, and Autophagy. ( 27596507 )
2017
40
Progressive encephalopathy associated with nutritional deficiencies: Identifying patients at high risk for developing thiamine deficiency. ( 27693006 )
2017
41
The effect of subclinical infantile thiamine deficiency on motor function in preschool children. ( 28133900 )
2017
42
Chronic Ethanol Consumption and Thiamine Deficiency Modulate β-Amyloid Peptide Level and Oxidative Stress in the Brain. ( 28182200 )
2017
43
Thiamine deficiency induces endoplasmic reticulum stress and oxidative stress in human neurons derived from induced pluripotent stem cells. ( 28193519 )
2017
44
Prevalence of clinical thiamine deficiency in individuals with medically complicated obesity. ( 28215312 )
2017
45
Thiamine deficiency in cats. ( 28283638 )
2017
46
Visual Loss, Retinal Hemorrhages, and Optic Disc Edema Resulting From Thiamine Deficiency Following Bariatric Surgery Complicated by Prolonged Vomiting. ( 28331457 )
2017
47
Comparative effects of EtOH consumption and thiamine deficiency on cognitive impairment, oxidative damage, and β-amyloid peptide overproduction in the brain. ( 28342849 )
2017
48
The Spectrum of Vestibular and Ocular Motor Abnormalities in Thiamine Deficiency. ( 28365885 )
2017
49
Alcohol and thiamine deficiency trigger differential mitochondrial transition pore opening mediating cellular death. ( 28417285 )
2017
50
A Large Outbreak of Thiamine Deficiency Among Illegal Gold Miners in French Guiana. ( 28500804 )
2017

Variations for Beriberi

Expression for Beriberi

Search GEO for disease gene expression data for Beriberi.

Pathways for Beriberi

Pathways related to Beriberi according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10 SLC19A2 SLC19A3

GO Terms for Beriberi

Cellular components related to Beriberi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.62 HACL1 TKT

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.54 SLC19A2 SLC19A3 TRPV3
2 vitamin transport GO:0051180 9.32 SLC19A2 SLC19A3
3 vitamin transmembrane transport GO:0035461 9.26 SLC19A2 SLC19A3
4 thiamine-containing compound metabolic process GO:0042723 9.16 SLC19A2 SLC19A3
5 thiamine transmembrane transport GO:0071934 8.96 SLC19A2 SLC19A3
6 thiamine transport GO:0015888 8.62 SLC19A2 SLC19A3

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

# Name GO ID Score Top Affiliating Genes
1 cofactor binding GO:0048037 9.16 HACL1 TKT
2 vitamin transmembrane transporter activity GO:0090482 8.96 SLC19A2 SLC19A3
3 thiamine transmembrane transporter activity GO:0015234 8.62 SLC19A2 SLC19A3

Sources for Beriberi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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