Aliases & Classifications for Acetylation, Slow

MalaCards integrated aliases for Acetylation, Slow:

Name: Acetylation, Slow 58
Isoniazid Inactivation, Slow 58
Slow Acetylator Phenotype 58
Inh Inactivation, Slow 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acetylation, slow:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 243400
MedGen 43 C0878587
SNOMED-CT via HPO 70 258211005

Summaries for Acetylation, Slow

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

Description 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 9.8
2 breast cancer 9.8

Symptoms & Phenotypes for Acetylation, Slow

Human phenotypes related to Acetylation, Slow:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Acetylation, Slow

Search Clinical Trials , NIH Clinical Center for Acetylation, Slow

Genetic Tests for Acetylation, Slow

Anatomical Context for Acetylation, Slow

Publications for Acetylation, Slow

Articles related to Acetylation, Slow:

# Title Authors Year
1
Commentary: Reflections on G. M. Lower and colleagues' 1979 study associating slow acetylator phenotype with urinary bladder cancer: meta-analysis, historical refinements of the hypothesis, and lessons learned. ( 17510073 )
2007
2
Verified predominance of slow acetylator phenotype N-acetyltransferase 2 (NAT2) in a Hmong population residing in Minnesota. ( 16799928 )
2006
3
Association of N-acetyl transferase 2 gene polymorphism and slow acetylator phenotype with young onset and late onset Parkinson's disease among Indians. ( 16141799 )
2005
4
The T341C (Ile114Thr) polymorphism of N-acetyltransferase 2 yields slow acetylator phenotype by enhanced protein degradation. ( 15564878 )
2004
5
Proteasomal degradation of N-acetyltransferase 1 is prevented by acetylation of the active site cysteine: a mechanism for the slow acetylator phenotype and substrate-dependent down-regulation. ( 15039438 )
2004
6
Slow acetylator phenotype and genotype in HIV-positive patients with sulphamethoxazole hypersensitivity. ( 12580987 )
2003

Variations for Acetylation, Slow

ClinVar genetic disease variations for Acetylation, Slow:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NAT2 NM_000015.2(NAT2): c.590G> A (p.Arg197Gln) single nucleotide variant drug response rs1799930 GRCh37 Chromosome 8, 18258103: 18258103
2 NAT2 NM_000015.2(NAT2): c.590G> A (p.Arg197Gln) single nucleotide variant drug response rs1799930 GRCh38 Chromosome 8, 18400593: 18400593
3 NAT2 NM_000015.2(NAT2): c.341T> C (p.Ile114Thr) single nucleotide variant drug response rs1801280 GRCh37 Chromosome 8, 18257854: 18257854
4 NAT2 NM_000015.2(NAT2): c.341T> C (p.Ile114Thr) single nucleotide variant drug response rs1801280 GRCh38 Chromosome 8, 18400344: 18400344
5 NAT2 NM_000015.2(NAT2): c.803G= (p.Arg268=) single nucleotide variant drug response rs1208 GRCh37 Chromosome 8, 18258316: 18258316
6 NAT2 NM_000015.2(NAT2): c.803G= (p.Arg268=) single nucleotide variant drug response rs1208 GRCh38 Chromosome 8, 18400806: 18400806
7 NAT2 NM_000015.2(NAT2): c.857G> A (p.Gly286Glu) single nucleotide variant drug response rs1799931 GRCh37 Chromosome 8, 18258370: 18258370
8 NAT2 NM_000015.2(NAT2): c.857G> A (p.Gly286Glu) single nucleotide variant drug response rs1799931 GRCh38 Chromosome 8, 18400860: 18400860
9 NAT2 NM_000015.2(NAT2): c.191G> A (p.Arg64Gln) single nucleotide variant drug response rs1801279 GRCh37 Chromosome 8, 18257704: 18257704
10 NAT2 NM_000015.2(NAT2): c.191G> A (p.Arg64Gln) single nucleotide variant drug response rs1801279 GRCh38 Chromosome 8, 18400194: 18400194

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
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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