IllnessAlcohol intolerance, differential diagnosis

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the genetically caused forms of alcohol intolerance

AP4995

Number of genes

3 Accredited laboratory test

Examined sequence length

2,7 kb (Core-/Core-canditate-Genes)
3,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ADH1B	1128	103720	NM_000668.6	Mult
ALDH2	1554	100650	NM_000690.4	AD
ADH1C	1128	103730	NM_000669.5	Mult

Informations about the disease

Clinical Comment

Alcohol intolerance is a genetic metabolic disorder triggered by ethanol consumption. Alcohol intolerance is associated with a combination of certain ADH1B, ALDH2 and possibly ADH1C gene variants that affect the ethanol-neutralizing metabolism. Higher levels of acetaldehyde trigger the below-mentioned symptoms because the above-mentioned enzymes metabolize alcohol inefficiently. The gene variants in question are most commonly detected in people of East Asian descent, in whom alcohol intolerance is a more common problem leading to skin flushing, rashes, nausea and vomiting, diarrhea, low blood pressure, palpitations and drowsiness.

Reference: -

Synonyms

Allelic: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against (ADH1B)
Allelic: Esophageal cancer, alcohol-related, susceptibility to (ALDH2)
Allelic: Parkinson disease, susceptibility to (ADH1C)
Allelic: Sublingual nitroglycerin, susceptibility to poor response to (ALDH2)
Alcohol dependence, protection against (ADH1B)
Alcohol dependence, protection against (ADH1C)
Alcohol sensitivity, acute (ALDH2)
Hangover, susceptibility to (ALDH2)

Heredity, heredity patterns etc.

AD
Mult

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined