MCID: ALC016
MIFTS: 25

Alcohol Sensitivity, Acute

Categories: Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Alcohol Sensitivity, Acute

MalaCards integrated aliases for Alcohol Sensitivity, Acute:

Name: Alcohol Sensitivity, Acute 58 13
Acute Alcohol Sensitivity 54 38 30 6 41
Hangover, Susceptibility to 58 54
Susceptibility to Hangover 6
Alcohol Intolerance 54
Hangover 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
aldh2*1 and aldh2*2 are inactive alleles found more commonly in asians


HPO:

33
alcohol sensitivity, acute:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610251
KEGG 38 H01071
MedGen 43 C2674838
SNOMED-CT via HPO 70 263681008

Summaries for Alcohol Sensitivity, Acute

NIH Rare Diseases : 54 Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently. It is most common in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism that doesn't allow aldehyde dehydrogenase (ALDH) to metabolize acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains, or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.

MalaCards based summary : Alcohol Sensitivity, Acute, also known as acute alcohol sensitivity, is related to hypereosinophilic syndrome. An important gene associated with Alcohol Sensitivity, Acute is ALDH2 (Aldehyde Dehydrogenase 2 Family Member), and among its related pathways/superpathways is Glycolysis / Gluconeogenesis. The drugs Ethanol and Fomepizole have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are facial flushing after alcohol intake and reduced acetaldehyde dehydrogenase activity

Description from OMIM: 610251

Related Diseases for Alcohol Sensitivity, Acute

Diseases in the Alcohol Abuse family:

Alcohol Sensitivity, Acute

Diseases related to Alcohol Sensitivity, Acute via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 9.8

Symptoms & Phenotypes for Alcohol Sensitivity, Acute

Human phenotypes related to Alcohol Sensitivity, Acute:

33
# Description HPO Frequency HPO Source Accession
1 facial flushing after alcohol intake 33 HP:0001033
2 reduced acetaldehyde dehydrogenase activity 33 HP:0003533

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
facial flushing after alcohol intake

Metabolic Features:
excessive acetaldehyde accumulation after alcohol consumption

Neurologic Behavioral Psychiatric Manifestations:
increased intoxicating symptoms after alcohol consumption
aldh2*2 carriers suffer more severe hangovers

Laboratory Abnormalities:
enzymatically inactive aldh2
delayed oxidation of acetaldehyde

Clinical features from OMIM:

610251

Drugs & Therapeutics for Alcohol Sensitivity, Acute

Drugs for Alcohol Sensitivity, Acute (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Fomepizole Approved, Vet_approved Phase 2 7554-65-6 3406
3
Sulforaphane Investigational Phase 2 4478-93-7, 142825-10-3 5350
4 Sulforafan Phase 2
5 Central Nervous System Depressants Phase 2
6 Anti-Infective Agents Phase 2
7 Anti-Infective Agents, Local Phase 2
8 Protective Agents Phase 2
9 Antidotes Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevention of Alcohol Intolerance Completed NCT01845220 Phase 2 Broccoli Sprout Extract;Placebo
2 Phase IIa Study of Fomepizole for Acetaldehyde Toxicity After Ethanol Exposure in Subjects With Altered Ethanol Metabolism Completed NCT00661141 Phase 2 Antizol;Placebo

Search NIH Clinical Center for Alcohol Sensitivity, Acute

Genetic Tests for Alcohol Sensitivity, Acute

Genetic tests related to Alcohol Sensitivity, Acute:

# Genetic test Affiliating Genes
1 Acute Alcohol Sensitivity 30 ALDH2

Anatomical Context for Alcohol Sensitivity, Acute

MalaCards organs/tissues related to Alcohol Sensitivity, Acute:

42
Skin, Liver

Publications for Alcohol Sensitivity, Acute

Articles related to Alcohol Sensitivity, Acute:

(show all 16)
# Title Authors Year
1
Circadian modulation of acute alcohol sensitivity but not acute tolerance in Drosophila. ( 21721855 )
2011
2
Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. ( 20010786 )
2010
3
Major genetic components underlying alcoholism in Korean population. ( 18056758 )
2008
4
Pharmacokinetic and pharmacodynamic basis for partial protection against alcoholism in Asians, heterozygous for the variant ALDH2*2 gene allele. ( 17885622 )
2007
5
Etomidate and propofol-hyposensitive GABAA receptor beta3(N265M) mice show little changes in acute alcohol sensitivity but enhanced tolerance and withdrawal. ( 17350761 )
2007
6
Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. ( 16440063 )
2006
7
Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. ( 16046871 )
2005
8
Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. ( 15654505 )
2005
9
Hangover symptoms in Asian Americans with variations in the aldehyde dehydrogenase (ALDH2) gene. ( 10627091 )
2000
10
Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians. ( 10780266 )
1999
11
The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion. ( 8903321 )
1996
12
The aldehyde dehydrogenase ALDH2*2 allele exhibits dominance over ALDH2*1 in transduced HeLa cells. ( 7593603 )
1995
13
Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. ( 2987944 )
1985
14
Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. ( 4065146 )
1985
15
Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. ( 6582480 )
1984
16
Structural mutation in a major human aldehyde dehydrogenase gene results in loss of enzyme activity. ( 7180842 )
1982

Variations for Alcohol Sensitivity, Acute

ClinVar genetic disease variations for Alcohol Sensitivity, Acute:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH2 NM_000690.3(ALDH2): c.1510G> A (p.Glu504Lys) single nucleotide variant drug response,protective,risk factor rs671 GRCh37 Chromosome 12, 112241766: 112241766
2 ALDH2 NM_000690.3(ALDH2): c.1510G> A (p.Glu504Lys) single nucleotide variant drug response,protective,risk factor rs671 GRCh38 Chromosome 12, 111803962: 111803962
3 ALDH2 NM_000690.3(ALDH2): c.802C> T (p.Arg268Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 112229871: 112229871
4 ALDH2 NM_000690.3(ALDH2): c.802C> T (p.Arg268Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 111792067: 111792067

Expression for Alcohol Sensitivity, Acute

Search GEO for disease gene expression data for Alcohol Sensitivity, Acute.

Pathways for Alcohol Sensitivity, Acute

Pathways related to Alcohol Sensitivity, Acute according to KEGG:

38
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

GO Terms for Alcohol Sensitivity, Acute

Sources for Alcohol Sensitivity, Acute

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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