WERNICKE-KORSAKOFF SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: ALCOHOL-INDUCED ENCEPHALOPATHY
TRANSKETOLASE DEFECT
Number of Symptoms 18
OrphanetNr:
OMIM Id: 277730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000602) Ophthalmoplegia 56 / 7739
2
 (HPO:0000666) Horizontal nystagmus 32 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0001488) Bilateral ptosis 42 / 7739
5
 (HPO:0001271) Polyneuropathy 56 / 7739
6
 (HPO:0001289) Confusion 36 / 7739
7
 (HPO:0000709) Psychosis 61 / 7739
8
 (HPO:0001259) Coma 65 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0002354) Memory impairment 63 / 7739
11
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
12
 (OMIM) Lateral rectus palsy 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Impaired memory 2 / 7739
15
 (OMIM) Agitated delirium 1 / 7739
16
 (OMIM) Ocular muscle abnormalities 1 / 7739
17
 (MedDRA:10042264) Stupor 1 / 7739
18
 (OMIM) Korsakoff's psychosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Coy et al. (1996) noted that thiamine deficiency is associated with 2 neurologic disorders, beriberi and Wernicke-Korsakoff syndrome. Beriberi is caused by lack of dietary thiamine and its symptoms include myocardial failure, reversible by thiamine treatment. Wernicke-Korsakoff syndrome ...
Molecular genetics OMIM In comparing the nucleotide sequence of the transketolase coding region in fibroblasts derived from 2 Wernicke-Korsakoff patients with that of 2 nonalcoholic controls, Abedinia et al. (1992) could find no differences.

A variant transketolase enzyme has ...
Population genetics OMIM Studies of a nonalcoholic Amish family suggested that the transketolase abnormality may occur in nonalcoholic populations and that it is present in both male and female sibs. This might be expected with autosomal recessive inheritance. Europeans are more ...