Aliases & Classifications for Acetylation, Slow

MalaCards integrated aliases for Acetylation, Slow:

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

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acetylation, slow:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 243400
SNOMED-CT via HPO 69 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). Affiliated tissues include breast, and 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 9.7
2 breast cancer 9.7

Symptoms & Phenotypes for Acetylation, Slow

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acetylation, Slow:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

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:

41
Breast

Publications for Acetylation, Slow

Articles related to Acetylation, Slow:

# Title Authors Year
1
Combined effect of CYP1B1 codon 432 polymorphism and N-acetyltransferase 2 slow acetylator phenotypes in relation to breast cancer in the Turkish population. ( 20683028 )
2010
2
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
3
Verified predominance of slow acetylator phenotype N-acetyltransferase 2 (NAT2) in a Hmong population residing in Minnesota. ( 16799928 )
2006
4
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
5
The T341C (Ile114Thr) polymorphism of N-acetyltransferase 2 yields slow acetylator phenotype by enhanced protein degradation. ( 15564878 )
2004
6
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
7
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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