MCID: ALC016
MIFTS: 21

Alcohol Sensitivity, Acute

Categories: Genetic diseases, Rare diseases, Mental diseases

Aliases & Classifications for Alcohol Sensitivity, Acute

MalaCards integrated aliases for Alcohol Sensitivity, Acute:

Name: Alcohol Sensitivity, Acute 57 13
Acute Alcohol Sensitivity 53 37 29 6 40
Hangover, Susceptibility to 57 53
Susceptibility to Hangover 6
Alcohol Intolerance 53
Hangover 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
alcohol sensitivity, acute:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610251
MedGen 42 C2674838
KEGG 37 H01071
SNOMED-CT via HPO 69 263681008

Summaries for Alcohol Sensitivity, Acute

NIH Rare Diseases : 53 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, is also known as acute alcohol sensitivity. 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 related phenotypes are facial flushing after alcohol intake and delayed oxidation of acetaldehyde

Description from OMIM: 610251

Related Diseases for Alcohol Sensitivity, Acute

Diseases in the Alcohol Abuse family:

Alcohol Sensitivity, Acute

Symptoms & Phenotypes for Alcohol Sensitivity, Acute

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alcohol Sensitivity, Acute:

32
# Description HPO Frequency HPO Source Accession
1 facial flushing after alcohol intake 32 HP:0001033
2 delayed oxidation of acetaldehyde 32 HP:0003533

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 Anti-Infective Agents Phase 2
4 Anti-Infective Agents, Local Phase 2
5 Central Nervous System Depressants Phase 2
6 Sulforafan Phase 2
7 Antidotes Phase 2
8 Protective Agents Phase 2
9
Sulforaphane Investigational, Nutraceutical Phase 2 142825-10-3, 4478-93-7 5350

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 29 ALDH2

Anatomical Context for Alcohol Sensitivity, Acute

MalaCards organs/tissues related to Alcohol Sensitivity, Acute:

41
Skin

Publications for Alcohol Sensitivity, Acute

Articles related to Alcohol Sensitivity, Acute:

# Title Authors Year
1
Circadian modulation of acute alcohol sensitivity but not acute tolerance in Drosophila. ( 21721855 )
2011

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 Pathogenic,protective,risk factor rs671 GRCh37 Chromosome 12, 112241766: 112241766
2 ALDH2 NM_000690.3(ALDH2): c.1510G> A (p.Glu504Lys) single nucleotide variant Pathogenic,protective,risk factor rs671 GRCh38 Chromosome 12, 111803962: 111803962

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:

37
# 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 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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