MCID: WRN002
MIFTS: 49

Wernicke-Korsakoff Syndrome

Categories: Eye diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Wernicke-Korsakoff Syndrome

MalaCards integrated aliases for Wernicke-Korsakoff Syndrome:

Name: Wernicke-Korsakoff Syndrome 57 12 73 20 53 15 17 70
Korsakoff Syndrome 12 54 44
Transketolase Defect 57 70
Korsakoff's Syndrome 12 73
Alcohol-Induced Encephalopathy 57
Alcohol Induced Encephalopathy 70
Korsakoff's Psychosis 12
Korsakov's Psychosis 12
Korsakov Psychosis 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
wernicke-korsakoff syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:10915
OMIM® 57 277730
MeSH 44 D020915
NCIt 50 C35764
SNOMED-CT 67 69482004
MedGen 41 C0349464
UMLS 70 C0349464 C2931917 C2931918

Summaries for Wernicke-Korsakoff Syndrome

GARD : 20 Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's syndrome represents the "chronic" phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait ( ataxia ), and abnormal eye movements ( nystagmus ). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases ( cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease. Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.

MalaCards based summary : Wernicke-Korsakoff Syndrome, also known as korsakoff syndrome, is related to wernicke encephalopathy and anterograde amnesia, and has symptoms including ataxia and ophthalmoplegia. An important gene associated with Wernicke-Korsakoff Syndrome is TKT (Transketolase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Folic acid and Thiamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thalamus, and related phenotypes are ptosis and ataxia

Disease Ontology : 12 A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has material basis in thiamine deficiency.

NINDS : 53 Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. Symptoms include mental confusion, vision problems, coma, hypothermia, low blood pressure, and lack of muscle coordination (ataxia). Korsakoff syndrome (also called Korsakoff's amnesic syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages nerve cells and supporting cells in the brain and spinal cord, as well as the part of the brain involved with memory. Symptoms include amnesia, tremor, coma, disorientation, and vision problems, The disorder's main features are problems in acquiring new information or establishing new memories, and in retrieving previous memories. Although Wernicke's and Korsakoff's are related disorders, some scientists believe them to be different stages of the same disorder, which is called Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the "acute" phase of the disorder and Korsakoff's amnesic syndrome represents the disorder progressing to a "chronic" or long-lasting stage.

Wikipedia : 73 Wernicke-Korsakoff syndrome (WKS) is the combined presence of Wernicke encephalopathy (WE) and alcoholic... more...

More information from OMIM: 277730

Related Diseases for Wernicke-Korsakoff Syndrome

Diseases related to Wernicke-Korsakoff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 wernicke encephalopathy 32.4 TPK1 TKT THTPA SLC19A3 SLC19A2
2 anterograde amnesia 30.8 FOXB1 BDNF
3 amnestic disorder 30.8 NGF CHAT BDNF ACHE
4 beriberi 30.7 TPK1 TKT THTPA SLC25A19 SLC19A3 SLC19A2
5 lactic acidosis 30.3 TPK1 SLC19A3 OGDH CHAT
6 megaloblastic anemia 30.2 TPK1 TKT SLC19A3 SLC19A2
7 mild cognitive impairment 30.0 CHAT BDNF
8 peripheral nervous system disease 29.8 SERPINA3 NGF CHAT BDNF ACHE
9 vascular dementia 29.7 SERPINA3 NGF CHAT ACHE
10 dementia 29.4 SERPINA3 NGF CHAT BDNF ACHE
11 cerebral beriberi 11.4
12 korsakoff's amnesic syndrome 11.3
13 encephalopathy 10.8
14 ataxia and polyneuropathy, adult-onset 10.7
15 alcohol use disorder 10.7
16 alcohol dependence 10.7
17 pathologic nystagmus 10.6
18 kearns-sayre syndrome 10.5
19 subacute delirium 10.5
20 retrograde amnesia 10.4
21 ocular motor apraxia 10.4
22 polyneuropathy 10.4
23 anorexia nervosa 10.3
24 neuropathy 10.3
25 encephalitis 10.3
26 alpha-ketoglutarate dehydrogenase deficiency 10.3 OGDH DLST
27 cholinergic urticaria 10.3 SERPINA3 ACHE
28 creutzfeldt-jakob disease 10.2
29 graves disease 1 10.2
30 substance abuse 10.2
31 ileus 10.2
32 dysphagia 10.2
33 wet beriberi 10.2 TKT SLC19A3 SLC19A2
34 atypical depressive disorder 10.2 SERPINA3 BDNF
35 thiamine metabolism dysfunction syndrome 2 10.2 TPK1 SLC19A3 SLC19A2
36 neuromuscular junction disease 10.1 SERPINA3 CHAT ACHE
37 scrapie 10.1 SERPINA3 CHAT ACHE
38 supranuclear palsy, progressive, 1 10.1 SERPINA3 CHAT ACHE
39 craniopharyngioma 10.1
40 obsessive-compulsive disorder 10.1
41 storm syndrome 10.1
42 celiac disease 1 10.1
43 lymphoma, hodgkin, classic 10.1
44 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
45 leukemia, acute myeloid 10.1
46 lymphoma, non-hodgkin, familial 10.1
47 major affective disorder 8 10.1
48 major affective disorder 9 10.1
49 leptin deficiency or dysfunction 10.1
50 exanthem 10.1

Graphical network of the top 20 diseases related to Wernicke-Korsakoff Syndrome:



Diseases related to Wernicke-Korsakoff Syndrome

Symptoms & Phenotypes for Wernicke-Korsakoff Syndrome

Human phenotypes related to Wernicke-Korsakoff Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 ataxia 31 HP:0001251
3 ophthalmoplegia 31 HP:0000602
4 memory impairment 31 HP:0002354
5 psychosis 31 HP:0000709
6 coma 31 HP:0001259
7 polyneuropathy 31 HP:0001271
8 horizontal nystagmus 31 HP:0000666
9 delirium 31 HP:0031258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
ocular muscle abnormalities
coma (if untreated)

Neurologic Peripheral Nervous System:
polyneuropathy

Head And Neck Eyes:
ophthalmoplegia
horizontal nystagmus
ptosis (rare)
lateral rectus palsy

Neurologic Behavioral Psychiatric Manifestations:
confusion
disorientation
stupor
impaired memory
agitated delirium
more

Clinical features from OMIM®:

277730 (Updated 20-May-2021)

UMLS symptoms related to Wernicke-Korsakoff Syndrome:


ataxia; ophthalmoplegia

MGI Mouse Phenotypes related to Wernicke-Korsakoff Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ACHE BDNF CHAT DLST FOXB1 NGF
2 growth/size/body region MP:0005378 10 ACHE BDNF CHAT DLST FOXB1 LUZP1
3 mortality/aging MP:0010768 9.8 ACHE BDNF CHAT DLST FOXB1 LUZP1
4 nervous system MP:0003631 9.44 ACHE BDNF CHAT DLST FOXB1 LUZP1

Drugs & Therapeutics for Wernicke-Korsakoff Syndrome

Drugs for Wernicke-Korsakoff Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
3 Trace Elements Phase 4
4 Nutrients Phase 4
5 Vitamin B9 Phase 4
6 Folate Phase 4
7 Vitamin B Complex Phase 4
8 Micronutrients Phase 4
9 Vitamins Phase 4
10 Thiamin Phase 4
11
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
12
Ethanol Approved Phase 2, Phase 3 64-17-5 702
13 Analgesics Phase 2, Phase 3
14 Anti-Arrhythmia Agents Phase 2, Phase 3
15 Anesthetics Phase 2, Phase 3
16 Hormones Phase 2, Phase 3
17 Anticonvulsants Phase 2, Phase 3
18 Tocolytic Agents Phase 2, Phase 3
19 calcium channel blockers Phase 2, Phase 3
20 Calcium, Dietary Phase 2, Phase 3
21
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
22 pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimum Thiamine Intervention (OpT In) for Treatment and Prevention of Wernicke-Korsakoff Syndrome (WKS): A Randomised Controlled Trial Completed NCT02788552 Phase 4 Thiamine Hydrochloride
2 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
3 From Uncomplicated Alcoholism to Korsakoff's Syndrome: Clinical, Genetic, Neuropsychological and Brain Examinations Unknown status NCT01455207
4 Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study Recruiting NCT03724136

Search NIH Clinical Center for Wernicke-Korsakoff Syndrome

Cochrane evidence based reviews: korsakoff syndrome

Genetic Tests for Wernicke-Korsakoff Syndrome

Anatomical Context for Wernicke-Korsakoff Syndrome

MalaCards organs/tissues related to Wernicke-Korsakoff Syndrome:

40
Brain, Eye, Thalamus, Hypothalamus, Spinal Cord, Kidney, Liver

Publications for Wernicke-Korsakoff Syndrome

Articles related to Wernicke-Korsakoff Syndrome:

(show top 50) (show all 597)
# Title Authors PMID Year
1
Nucleotide and predicted amino acid sequence of a cDNA clone encoding part of human transketolase. 57 54 61
1567394 1992
2
Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes. 57 54
8838793 1996
3
Cloning of human transketolase cDNAs and comparison of the nucleotide sequence of the coding region in Wernicke-Korsakoff and non-Wernicke-Korsakoff individuals. 57 61
8419340 1993
4
Transketolase abnormality in cultured fibroblasts from familial chronic alcoholic men and their male offspring. 57 61
3558815 1987
5
An erythrocyte transketolase isoenzyme pattern associated with the Wernicke-Korsakoff syndrome. 57 61
6434322 1984
6
Wernicke-Korsakoff syndrome in monozygotic twins: a biochemical peculiarity. 61 57
7197998 1981
7
Genetic factors in Wernicke-Korsakoff syndrome. 61 57
391073 1979
8
Abnormality of a thiamine-requiring enzyme in patients with Wernicke-Korsakoff syndrome. 57 61
927453 1977
9
Human erythrocyte transketolase: no evidence for variants. 57
3829425 1987
10
Wernicke's encephalopathy: a more common disease than realised. A neuropathological study of 51 cases. 57
438830 1979
11
Optimum nutrition: thiamin, biotin and pantothenate. 54 61
10466187 1999
12
A transketolase assembly defect in a Wernicke-Korsakoff syndrome patient. 61 54
9194907 1997
13
Molecular genetics of transketolase in the pathogenesis of the Wernicke-Korsakoff syndrome. 61 54
7596328 1995
14
Heterogeneous expression of transketolase in rat brain. 54 61
7861132 1995
15
Thiamine-dependent enzyme changes in the brains of alcoholics: relationship to the Wernicke-Korsakoff syndrome. 61 54
8279670 1993
16
An enzymatic and immunochemical analysis of transketolase in fibroblasts from Wernicke-Korsakoff syndrome. 54 61
8445392 1993
17
Wernicke-Korsakoff Syndrome in Hyperemesis Gravidarum: A Case Report and Literature Review. 61
33791058 2021
18
High emotional experience during autobiographical retrieval in women with Korsakoff syndrome. 61
33563089 2021
19
Nonalcoholic Wernicke-Korsakoff Syndrome Resulting From Psychosis. 61
33620916 2021
20
Low rates of thiamine prescribing in adult patients with alcohol-related diagnoses in the emergency department. 61
33780650 2021
21
Behavioural effects of light intervention in people with Korsakoff Syndrome: A pilot study. 61
33682627 2021
22
Unraveling Apathy in Korsakoff Syndrome Patients Receiving Long-Term Care With and Without Cerebrovascular Comorbidity. 61
33196105 2021
23
Cerebellar and cortical TLR4 activation and behavioral impairments in Wernicke-Korsakoff Syndrome: Pharmacological effects of oleoylethanolamide. 61
33271211 2020
24
A reappraisal of acute doses of benzodiazepines as a model of anterograde amnesia. 61
33368617 2020
25
Intragastric Balloon: a Retrospective Evaluation of 5874 Patients on Tolerance, Complications, and Efficacy in Different Degrees of Overweight. 61
32959329 2020
26
Hyperemesis-induced Wernicke-Korsakoff Syndrome due to Hypergastrinemia during Long-term Treatment with Proton Pump Inhibitors. 61
32669503 2020
27
A Case of Wernicke-Korsakoff Syndrome Initially Diagnosed as Autoimmune Limbic Encephalitis: Differential Diagnosis of Delirium and Short-Term Memory Deficits. 61
33031649 2020
28
From psychosis to Wernicke encephalopathy: a case of hunger strike in prison. 61
32589087 2020
29
Wernicke-Korsakoff Syndrome in a Patient With Celiac Disease and Obsessive-Compulsive Disorder: A Case Report. 61
31739995 2020
30
Wernicke-Korsakoff Syndrome: A Case Series in Liaison Psychiatry. 61
32391987 2020
31
Caregivers' perspectives on good care for nursing home residents with Korsakoff syndrome. 61
32436458 2020
32
[Wernicke Korsakoff Syndrome in a Pregnant Woman - the Interesting Case]. 61
32330989 2020
33
Sex Differences in Korsakoff's Syndrome for Inhibition but Not for Episodic Memory or Flexibility. 61
31943522 2020
34
Thiamine (vitamin B1) in septic shock: a targeted therapy. 61
32148929 2020
35
[The 473rd case: renal failure, abdominal pain, and mental abnormality]. 61
31887844 2020
36
[The knowledge of resident doctors on diagnostics, etiology and treatment of Wernicke encephalopathy]. 61
33184816 2020
37
The image of memory: relationship between autobiographical memory and mental imagery in Korsakoff syndrome. 61
31994909 2020
38
Wernicke-Korsakoff syndrome associated with mtDNA disease. 61
32821290 2020
39
The Inferior Colliculus in Alcoholism and Beyond. 61
33362482 2020
40
Repurposing Treatment of Wernicke-Korsakoff Syndrome for Th-17 Cell Immune Storm Syndrome and Neurological Symptoms in COVID-19: Thiamine Efficacy and Safety, In-Vitro Evidence and Pharmacokinetic Profile. 61
33737877 2020
41
Confabulations in Cases of Dementia: Atypical Early Sign of Alzheimer's Disease or Misleading Feature in Dementia Diagnosis? 61
33117224 2020
42
Atrophic mammillary bodies with hypointensities on susceptibility-weighted images: A case-study in Korsakoff syndrome. 61
31683051 2020
43
Prevalence and Improvement of Caine-Positive Wernicke-Korsakoff Syndrome in Psychiatric Inpatient Admissions. 61
31607504 2020
44
Wernicke's encephalopathy - from basic science to clinical practice. Part 1: Understanding the role of thiamine. 61
33447357 2020
45
Vitamin D supplementation after malnutrition associated with time-related increase of cancer diagnoses: A cohort study of 389 patients with Wernicke-Korsakoff syndrome. 61
31310957 2019
46
Hyperemesis gravidarum causing Wernicke-Korsakoff syndrome: A rare complication. 61
31215137 2019
47
A view from the acute hospital: managing patients with alcohol problems. 61
31498680 2019
48
Future Thinking in Korsakoff Syndrome. 61
31044226 2019
49
Preserved re-experience of discrete emotions: Amnesia and executive function. 61
29411941 2019
50
Wernicke Encephalopathy-Clinical Pearls. 61
31171116 2019

Variations for Wernicke-Korsakoff Syndrome

Expression for Wernicke-Korsakoff Syndrome

Search GEO for disease gene expression data for Wernicke-Korsakoff Syndrome.

Pathways for Wernicke-Korsakoff Syndrome

Pathways related to Wernicke-Korsakoff Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 TPK1 TKTL2 TKTL1 TKT THTPA SLC25A19
2
Show member pathways
11.96 TPK1 THTPA SLC25A19 SLC19A3 SLC19A2
3 11.44 NGF CHAT BDNF
4
Show member pathways
11.35 TKTL2 TKTL1 TKT OGDH DLST
5
Show member pathways
11.31 TKTL2 TKTL1 TKT
6 10.86 SLC19A3 SLC19A2
7
Show member pathways
10.8 CHAT ACHE
8 10.64 TPK1 THTPA
9 10.48 CHAT ACHE
10 10.1 CHAT ACHE

GO Terms for Wernicke-Korsakoff Syndrome

Cellular components related to Wernicke-Korsakoff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxoglutarate dehydrogenase complex GO:0045252 8.62 OGDH DLST

Biological processes related to Wernicke-Korsakoff Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.75 NGF FOXB1 BDNF
2 neurotrophin TRK receptor signaling pathway GO:0048011 9.57 NGF BDNF
3 2-oxoglutarate metabolic process GO:0006103 9.56 OGDH DLST
4 nerve development GO:0021675 9.55 NGF BDNF
5 neurotransmitter biosynthetic process GO:0042136 9.54 CHAT ACHE
6 generation of precursor metabolites and energy GO:0006091 9.54 THTPA OGDH DLST
7 thalamus development GO:0021794 9.52 OGDH FOXB1
8 nerve growth factor signaling pathway GO:0038180 9.51 NGF BDNF
9 lysine catabolic process GO:0006554 9.49 OGDH DLST
10 positive regulation of collateral sprouting GO:0048672 9.48 NGF BDNF
11 vitamin transport GO:0051180 9.46 SLC19A3 SLC19A2
12 vitamin transmembrane transport GO:0035461 9.43 SLC19A3 SLC19A2
13 succinyl-CoA metabolic process GO:0006104 9.4 OGDH DLST
14 thiamine metabolic process GO:0006772 9.33 TPK1 TKTL1 THTPA
15 histone succinylation GO:0106077 9.32 OGDH DLST
16 thiamine transport GO:0015888 9.26 SLC19A3 SLC19A2
17 thiamine transmembrane transport GO:0071934 9.13 SLC25A19 SLC19A3 SLC19A2
18 thiamine-containing compound metabolic process GO:0042723 9.02 TPK1 THTPA SLC25A19 SLC19A3 SLC19A2

Molecular functions related to Wernicke-Korsakoff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thiamine transmembrane transporter activity GO:0015234 9.33 SLC25A19 SLC19A3 SLC19A2
2 vitamin transmembrane transporter activity GO:0090482 9.32 SLC19A3 SLC19A2
3 nerve growth factor receptor binding GO:0005163 9.26 NGF BDNF
4 transketolase activity GO:0004802 9.13 TKTL2 TKTL1 TKT
5 thiamine pyrophosphate binding GO:0030976 8.92 TKTL2 TKTL1 TKT OGDH

Sources for Wernicke-Korsakoff Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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