Aliases & Classifications for Acetylation, Slow

MalaCards integrated aliases for Acetylation, Slow:

Name: Acetylation, Slow 57
Inh Inactivation, Slow 57 6
Isoniazid Inactivation, Slow 57
Slow Acetylator Phenotype 57

Characteristics:

OMIM®:

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


HPO:

31
acetylation, slow:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 243400
MedGen 41 C0878587
SNOMED-CT via HPO 68 258211005

Summaries for Acetylation, Slow

MalaCards based summary : Acetylation, Slow, also known as inh inactivation, slow, is related to bladder cancer and allergic disease. An important gene associated with Acetylation, Slow is NAT2 (N-Acetyltransferase 2). Affiliated tissues include liver and breast, and related phenotype is abnormality of metabolism/homeostasis.

More information from OMIM: 243400

Related Diseases for Acetylation, Slow

Diseases related to Acetylation, Slow via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bladder cancer 10.3
2 allergic disease 10.2
3 type 1 diabetes mellitus 10.0
4 microvascular complications of diabetes 3 10.0
5 microvascular complications of diabetes 4 10.0
6 microvascular complications of diabetes 6 10.0
7 microvascular complications of diabetes 7 10.0
8 axonal neuropathy 10.0
9 hereditary late-onset parkinson disease 10.0

Graphical network of the top 20 diseases related to Acetylation, Slow:



Diseases related to Acetylation, Slow

Symptoms & Phenotypes for Acetylation, Slow

Human phenotypes related to Acetylation, Slow:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Misc:
variation in drug therapy response
arylamine n-acetyltransferase polymorphism
susceptibility to chemical toxicity or carcinogenicity

Lab:
polymorphic rapid or slow acetylation of: isoniazid (inh), sulfadimidine, hydralazine, dapsone, procaine amide, sulfapyridine, reduced metabolite of nitrazepam, metabolite of caffeine

Clinical features from OMIM®:

243400 (Updated 20-May-2021)

Drugs & Therapeutics for Acetylation, Slow

Search Clinical Trials , NIH Clinical Center for Acetylation, Slow

Genetic Tests for Acetylation, Slow

Anatomical Context for Acetylation, Slow

MalaCards organs/tissues related to Acetylation, Slow:

40
Liver, Breast

Publications for Acetylation, Slow

Articles related to Acetylation, Slow:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia. 57 6
18043717 2008
2
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. 6 57
16416399 2006
3
Diverse point mutations in the human gene for polymorphic N-acetyltransferase. 6 57
2068113 1991
4
Inheritance and drug response. 57
12571261 2003
5
Pharmacogenomics--drug disposition, drug targets, and side effects. 57
12571262 2003
6
The mosaic that is our genome. 57
12540910 2003
7
Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. 6
12351146 2002
8
Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. 6
10667461 2000
9
Relationship between polymorphism of N-acetyltransferase gene and susceptibility to colorectal carcinoma in a Chinese population. 57
9918135 1998
10
Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients. 57
9660060 1998
11
NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans. 6
8807666 1996
12
Diet, acetylator phenotype, and risk of colorectal neoplasia. 57
8637343 1996
13
Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations. 6
9156695 1996
14
Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. 57
7668286 1995
15
Ethnic distribution of slow acetylator mutations in the polymorphic N-acetyltransferase (NAT2) gene. 57
7920692 1994
16
Chromosomal localization of human genes for arylamine N-acetyltransferase. 57
8110178 1994
17
Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans. 6
8102597 1993
18
An improved method for genotyping of N-acetyltransferase polymorphism by polymerase chain reaction. 57
8102908 1993
19
Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: application to metabolic epidemiology. 6
8460648 1993
20
Molecular genotyping of N-acetylation polymorphism to predict phenotype. 57
1427770 1992
21
Acetylation pharmacogenetics. The slow acetylator phenotype is caused by decreased or absent arylamine N-acetyltransferase in human liver. 57
2312737 1990
22
Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver. 6
1968463 1990
23
N-acetylation pharmacogenetics: a gene deletion causes absence of arylamine N-acetyltransferase in liver of slow acetylator rabbits. 57
2594784 1989
24
N-acetyltransferase. 57
2664821 1989
25
Linkage of Nat and Es-1 in the mouse and development of strains congenic for N-acetyltransferase. 57
3209851 1988
26
Polymorphic acetylation of sulphamethazine in a Zimbabwe population. 57
3351888 1988
27
Acetylation phenotype in colorectal carcinoma. 57
3815349 1987
28
Kinetics of arylamine N-acetyltransferase in tissues from rapid and slow acetylator mice. 57
3802387 1987
29
Role of aromatic amine acetyltransferase in human colorectal cancer. 57
3778197 1986
30
Further evidence for the lack of association between acetylator phenotype and systemic lupus erythematosus. 57
3707628 1986
31
The relationship between the acetylator and the sparteine hydroxylation polymorphisms. 57
3712391 1986
32
A simple test for acetylator phenotype using caffeine. 6
6721992 1984
33
N-acetyltransferase polymorphism in Thailand. 57
6479991 1984
34
Acetylator phenotypes in Papua New Guinea. 57
6842533 1983
35
The effect of the acetylator phenotype on the metabolism of sulphasalazine in man. 57
6133000 1983
36
Relationship between the genetically determined acetylator phenotype and DNA damage induced by hydralazine and 2-aminofluorene in cultured rabbit hepatocytes. 57
6951172 1982
37
Biochemical characterization of genetically variant aromatic amine N-acetyltransferases in A/J and C57BL/6J mice. 57
6976964 1982
38
Genetic regulation of aromatic amine N-acetylation in inbred mice. 57
6976963 1982
39
Characterization of human lymphocyte N-acetyltransferase and its relationship to the isoniazid acetylator polymorphism. 57
7225085 1980
40
Inheritance of acetylator phenotype in mice. 57
6970808 1980
41
Acetylator phenotype in idiopathic systemic lupus erythematosus. 57
7378086 1980
42
Procainamide-induced lupus erythematosus-like syndrome in relation to acetylator phenotype and plasma levels of procainamide. 57
92167 1979
43
Effect of acetylator phenotype on the rate at which procainamide induces antinuclear antibodies and the lupus syndrome. 57
306574 1978
44
Normal distribution of acetylation phenotypes in systemic lupus erythematosus. 57
637885 1978
45
Diabetic dimorphism according to acetylator status. 57
340001 1978
46
Monoacetylhydrazine as a metabolite of isoniazid in man. 57
913027 1977
47
Acetylator phenotype in diabetic neuropathy. 57
871863 1977
48
A simplified micromethod for the determination of the acetylator phenotype. 57
894203 1977
49
Diphenylhydantoin intoxication. A complication of isoniazid therapy. 57
5414058 1970
50
Human variability in the metabolism of sulfamethazine. 57
5366288 1969

Variations for Acetylation, Slow

ClinVar genetic disease variations for Acetylation, Slow:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NAT2 NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) SNV drug response 722 rs1799930 GRCh37: 8:18258103-18258103
GRCh38: 8:18400593-18400593
2 NAT2 NM_000015.2(NAT2):c.341T>C (p.Ile114Thr) SNV drug response 723 rs1801280 GRCh37: 8:18257854-18257854
GRCh38: 8:18400344-18400344
3 NAT2 NM_000015.2(NAT2):c.857G>A (p.Gly286Glu) SNV drug response 725 rs1799931 GRCh37: 8:18258370-18258370
GRCh38: 8:18400860-18400860
4 NAT2 NM_000015.3(NAT2):c.191G>A (p.Arg64Gln) SNV drug response 726 rs1801279 GRCh37: 8:18257704-18257704
GRCh38: 8:18400194-18400194
5 NAT2 NM_000015.3(NAT2):c.803= (p.Arg268=) SNV drug response 724 rs1208 GRCh37: 8:18258316-18258316
GRCh38: 8:18400806-18400806

Expression for Acetylation, Slow

Search GEO for disease gene expression data for Acetylation, Slow.

Pathways for Acetylation, Slow

GO Terms for Acetylation, Slow

Sources for Acetylation, Slow

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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