MCID: BRB001
MIFTS: 46

Beriberi

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

Aliases & Classifications for Beriberi

MalaCards integrated aliases for Beriberi:

Name: Beriberi 12 77 54 38 56 45 15 17 74
Thiamine Deficiency 54 56 17 74
Vitamin B1 Deficiency 54

Classifications:



External Ids:

Disease Ontology 12 DOID:13725
KEGG 38 H01566
ICD9CM 36 265.0
MeSH 45 D001602
NCIt 51 C34418
SNOMED-CT 69 36656008
ICD10 34 E51 E51.1 E51.9

Summaries for Beriberi

NIH Rare Diseases : 54 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 are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. The drugs leucovorin and Metformin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 77 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 127)
# Related Disease Score Top Affiliating Genes
1 wernicke encephalopathy 32.3 SLC19A3 TKT
2 wernicke-korsakoff syndrome 29.8 SLC19A2 TKT
3 wet beriberi 12.6
4 dry beriberi 12.6
5 thiamine deficiency disease 12.3
6 cerebral beriberi 12.2
7 korsakoff's amnesic syndrome 11.3
8 heart disease 10.7
9 encephalopathy 10.4
10 neuropathy 10.4
11 polyneuropathy 10.3
12 rere-related disorders 10.3
13 guillain-barre syndrome 10.2
14 lactic acidosis 10.2
15 pulmonary hypertension 10.1
16 cardiogenic shock 10.1
17 leukemia 10.1
18 metabolic acidosis 10.0
19 end stage renal failure 10.0
20 lymphoma 10.0
21 pathologic nystagmus 10.0
22 allergic encephalomyelitis 10.0
23 degos 'en cocarde' erythrokeratoderma 10.0
24 hypoxia 10.0
25 alcohol dependence 9.9
26 infantile liver failure syndrome 1 9.9
27 liver disease 9.9
28 hepatorenal syndrome 9.9
29 dementia 9.9
30 epilepsy 9.9
31 glioma 9.9
32 laryngeal adductor paralysis 9.9
33 schizophrenia 9.9
34 graves disease 1 9.9
35 myocardial infarction 9.9
36 malaria 9.9
37 microvascular complications of diabetes 3 9.9
38 microvascular complications of diabetes 4 9.9
39 microvascular complications of diabetes 6 9.9
40 microvascular complications of diabetes 7 9.9
41 leptin deficiency or dysfunction 9.9
42 angina pectoris 9.9
43 congestive heart failure 9.9
44 dilated cardiomyopathy 9.9
45 spinal stenosis 9.9
46 short bowel syndrome 9.9
47 hemopericardium 9.9
48 pericardial effusion 9.9
49 critical illness polyneuropathy 9.9
50 optic nerve disease 9.9

Graphical network of the top 20 diseases related to Beriberi:



Diseases related to Beriberi

Symptoms & Phenotypes for Beriberi

GenomeRNAi Phenotypes related to Beriberi according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.5 EPHA3
2 Decreased viability GR00107-A-1 9.5 TPK1
3 Decreased viability GR00173-A 9.5 TPK1
4 Decreased viability GR00221-A-3 9.5 TPK1
5 Decreased viability GR00221-A-4 9.5 EPHA3 TPK1
6 Decreased viability GR00240-S-1 9.5 TPK1
7 Decreased viability GR00301-A 9.5 EPHA3
8 Decreased viability GR00342-S-1 9.5 EPHA3 TPK1
9 Decreased viability GR00342-S-2 9.5 TPK1
10 Decreased viability GR00342-S-3 9.5 TPK1
11 Decreased viability GR00381-A-1 9.5 TPK1
12 Decreased viability GR00402-S-2 9.5 EPHA3 TPK1

MGI Mouse Phenotypes related to Beriberi:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 EPHA3 SH3GL1 SLC19A2 SLC19A3 TKT

Drugs & Therapeutics for Beriberi

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4,Not Applicable 58-05-9 143 6006
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
4
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-16-6, 59-43-8 1130
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
6 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Nutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Folate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Vitamin B9 Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Thiamin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Cytochrome P-450 Enzyme Inhibitors Phase 4
15 Anti-Infective Agents Phase 4
16 Anti-Infective Agents, Urinary Phase 4
17 Renal Agents Phase 4
18 Hypoglycemic Agents Phase 4
19 Antimalarials Phase 4
20 Antiparasitic Agents Phase 4
21 Folic Acid Antagonists Phase 4
22 Antiprotozoal Agents Phase 4
23
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
24
Ethanol Approved Phase 2, Phase 3 64-17-5 702
25
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
26 Anticonvulsants Phase 2, Phase 3
27 Peripheral Nervous System Agents Phase 2, Phase 3
28 Tocolytic Agents Phase 2, Phase 3
29 Anti-Arrhythmia Agents Phase 2, Phase 3
30 Calcium, Dietary Phase 2, Phase 3
31 Anesthetics Phase 2, Phase 3
32 Central Nervous System Depressants Phase 2, Phase 3
33 Analgesics Phase 2, Phase 3
34 Hormones Phase 2, Phase 3
35 calcium channel blockers Phase 2, Phase 3
36 pyruvate Phase 2,Not Applicable
37 Protective Agents Phase 2
38
Iron Approved, Experimental Phase 1 7439-89-6, 15438-31-0 27284 23925
39
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
40
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
41
Cobalamin Experimental Not Applicable 13408-78-1 6857388
42 Vitamin B12 Not Applicable
43 Vitamin B 12 Not Applicable
44 Hematinics 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 The Effect of SLC19A3 Inhibition on the Pharmacokinetics of Thiamine Recruiting NCT03746106 Phase 4 Trimethoprim;Metformin
6 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4 Thiamine Hydrochloride
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 Withdrawn 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 74 / NDF-RT 52 :


Cochrane evidence based reviews: beriberi

Genetic Tests for Beriberi

Anatomical Context for Beriberi

MalaCards organs/tissues related to Beriberi:

42
Heart, Brain, Liver, Kidney, Monocytes, T Cells, Endothelial

Publications for Beriberi

Articles related to Beriberi:

(show top 50) (show all 1047)
# Title Authors Year
1
Starvation-induced diplopia and weakness: a case of beriberi and Wernicke's encephalopathy. ( 30610031 )
2019
2
Dry Beriberi Due to Thiamine Deficiency Associated with Peripheral Neuropathy and Wernicke's Encephalopathy Mimicking Guillain-Barré syndrome: A Case Report and Review of the Literature. ( 30862772 )
2019
3
Beriberi neuropathy in oncological setting. ( 30873682 )
2019
4
Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature. ( 30984730 )
2019
5
Retrospective analysis of thiamine deficiency in allogeneic stem cell transplant patients. ( 30392066 )
2019
6
Thiamine deficiency observed in a cancer patient's caregiver. ( 30696506 )
2019
7
Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. ( 31019473 )
2019
8
Thiamine deficiency in the bereaved after cancer-related spousal loss. ( 31104649 )
2019
9
Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient. ( 29128624 )
2018
10
Beriberi Outbreak Among Unauthorised Immigrants in a Detention Camp in Malaysia. ( 29159485 )
2018
11
Wet Beriberi Associated with Hikikomori Syndrome. ( 29188542 )
2018
12
Wet beriberi with multiple organ failure remarkably reversed by thiamine administration: A case report and literature review. ( 29489643 )
2018
13
Gastrointestinal beriberi: a forme fruste of Wernicke's encephalopathy? ( 29982183 )
2018
14
Beriberi disease in an 11-year-old girl with total colectomy. ( 30397502 )
2018
15
The Wrong Turn to Tijuana: Dry Beriberi after Gastric Bypass Surgery with Incidental Spinal Stenosis. ( 30519179 )
2018
16
Acute Flaccid Paralysis- Don't Forget Beriberi Neuropathy. ( 30569499 )
2018
17
Review of thiamine deficiency disorders: Wernicke encephalopathy and Korsakoff psychosis. ( 30281514 )
2018
18
Stabilization of the hypoxia-inducible transcription Factor-1 alpha (HIF-1α) in thiamine deficiency is mediated by pyruvate accumulation. ( 30008376 )
2018
19
Myocardial ischemia in an adolescent secondary to nutritional thiamine deficiency. ( 29686552 )
2018
20
Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency. ( 29715193 )
2018
21
Subclinical thiamine deficiency identified by preoperative evaluation in an ovarian cancer patient: Diagnosis and the need for preoperative thiamine measurement. ( 30168403 )
2018
22
Re-emergence of thiamine deficiency disease in the Pacific islands (2014-15): A case-control study. ( 29879174 )
2018
23
The medial vestibular nuclei, a vulnerable target in thiamine deficiency. ( 29143209 )
2018
24
Subclinical thiamine deficiency in patients with abdominal cancer. ( 29277168 )
2018
25
Microglial activation and vascular responses that are associated with early thalamic neurodegeneration resulting from thiamine deficiency. ( 29427613 )
2018
26
Prevalence and predictors of postoperative thiamine deficiency after vertical sleeve gastrectomy. ( 29803410 )
2018
27
The 11th pitfall: thiamine deficiency. ( 29934922 )
2018
28
Prevalence and predictors of postoperative thiamine deficiency after vertical sleeve gastrectomy. ( 29960866 )
2018
29
Missing the early signs of thiamine deficiency. A case associated with a liquid-only diet. ( 30092713 )
2018
30
Thiamine deficiency and cardiovascular disorders. ( 30143411 )
2018
31
Thiamine Deficiency: An Important Consideration in Critically Ill Patients. ( 30146080 )
2018
32
Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs. ( 30151974 )
2018
33
Thiamine deficiency contributes to synapse and neural circuit defects. ( 30231926 )
2018
34
Thiamine Deficiency Induced Dietary Disparity Promotes Oxidative Stress and Neurodegeneration. ( 30319188 )
2018
35
Fatty acid signatures connect thiamine deficiency with the diet of the Atlantic salmon (Salmo salar) feeding in the Baltic Sea. ( 30369636 )
2018
36
Prevalence of thiamine deficiency in older hospitalized patients. ( 30464433 )
2018
37
A pivotal role for thiamine deficiency in the expression of neuroinflammation markers in models of alcohol-related brain damage. ( 30589435 )
2018
38
A Patient With Thiamine Deficiency Exhibiting Muscle Edema Suggested by MRI. ( 30619043 )
2018
39
Shoshin beriberi-thiamine responsive pulmonary hypertension in exclusively breastfed infants: A study from northern India. ( 28228301 )
2017
40
Acute beriberi neuropathy mimicking Guillain-Barré syndrome after a strict vegetarian diet. ( 28761634 )
2017
41
Dutch Research on Beriberi: I. Christiaan Eijkman's Research and Evaluation of Kanehiro Takaki's Diet Reforms of the Japanese Navy. ( 30549780 )
2017
42
Thiamine deficiency in metronidazole-induced encephalopathy: A metabolic correlation? ( 28716273 )
2017
43
Progressive encephalopathy associated with nutritional deficiencies: Identifying patients at high risk for developing thiamine deficiency. ( 27693006 )
2017
44
B-cell lymphoma, thiamine deficiency, and lactic acidosis. ( 28127139 )
2017
45
Consideration of alternative causes of lactic acidosis: Thiamine deficiency in malignancy. ( 28539246 )
2017
46
Thiamine Deficiency Leading to Refractory Lactic Acidosis in a Pediatric Patient. ( 29119026 )
2017
47
Lactic Acidosis as Presenting Symptom of Thiamine Deficiency in Children with Hematologic Malignancy. ( 31073437 )
2017
48
Thiamine deficiency, oxidative metabolic pathways and ethanol-induced neurotoxicity: how poor nutrition contributes to the alcoholic syndrome, as Marchiafava-Bignami disease. ( 28225048 )
2017
49
Outbreak of thiamine deficiency in cats associated with the feeding of defective dry food. ( 26783020 )
2017
50
Thiamine deficiency appears uncommon in patients with Myeloproliferative Neoplasms. ( 27135305 )
2017

Variations for Beriberi

Expression for Beriberi

Search GEO for disease gene expression data for Beriberi.

Pathways for Beriberi

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 vitamin transport GO:0051180 9.32 SLC19A2 SLC19A3
2 vitamin transmembrane transport GO:0035461 9.26 SLC19A2 SLC19A3
3 thiamine transmembrane transport GO:0071934 9.16 SLC19A2 SLC19A3
4 thiamine transport GO:0015888 8.96 SLC19A2 SLC19A3
5 thiamine-containing compound metabolic process GO:0042723 8.8 SLC19A2 SLC19A3 TPK1

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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