MCID: NCT003
MIFTS: 23

N-Acetylglutamate Synthase Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

MalaCards: N-Acetylglutamate Synthase Deficiency, also known as hyperammonemia, type iii, is related to n-acetylglutamate synthetase deficiency. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-acetylglutamate synthase).

Wikipedia:66 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. more...

Description from OMIM:48 237310

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
21GeneTests, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
nags deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

n-acetylglutamate synthase deficiency 21 22 48
hyperammonemia, type iii 22 63
nags deficiency 22 50
hyperammonemia due to n-acetylglutamate synthetase deficiency 50
n-acetylglutamate synthetase deficiency 22


External Ids:

OMIM48 237310
ICD10 via Orphanet27 E72.2

Related Diseases for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to N-Acetylglutamate Synthase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1n-acetylglutamate synthetase deficiency10.6

Symptoms for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for N-Acetylglutamate Synthase Deficiency

Drug clinical trials:

Search ClinicalTrials for N-Acetylglutamate Synthase Deficiency

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

Search CenterWatch for N-Acetylglutamate Synthase Deficiency

Genetic Tests for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to N-Acetylglutamate Synthase Deficiency:

id Genetic test Affiliating Genes
1 N-Acetylglutamate Synthase Deficiency21 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

About this section

Animal Models for N-Acetylglutamate Synthase Deficiency or affiliated genes

About this section

Publications for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
53PubMed
See all sources

Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 13)
idTitleAuthorsYear
1
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
2
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
2011
3
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
4
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
5
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. (18753752)
2008
6
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. (15858972)
2005
7
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (15714518)
2005
8
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. (15480384)
2004
9
Mutation analysis in patients with N-acetylglutamate synthase deficiency. (12754705)
2003
10
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
11
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. (12447942)
2002
12
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (11131349)
2000
13
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. (7623444)
1995

Variations for N-Acetylglutamate Synthase Deficiency

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for N-Acetylglutamate Synthase Deficiency:

65
id Symbol AA change Variation ID SNP ID
1NAGSp.Cys200ArgVAR_023505
2NAGSp.Ala279ProVAR_023506
3NAGSp.Ser410ProVAR_023507
4NAGSp.Leu430ProVAR_023508
5NAGSp.Trp484ArgVAR_023509
6NAGSp.Ala518ThrVAR_023510

Clinvar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1NAGSNAGS, 1-BP DEL, 1025GdeletionPathogenic
2NAGSNM_153006.2(NAGS): c.971G> A (p.Trp324Ter)single nucleotide variantPathogenicrs104894604GRCh37Chr 17, 42083952: 42083952
3NAGSNAGS, IVS3AS, A-T, -2single nucleotide variantPathogenic
4NAGSNAGS, 1-BP INS, 1306TinsertionPathogenic
5NAGSNM_153006.2(NAGS): c.835G> A (p.Ala279Thr)single nucleotide variantPathogenicrs121912591GRCh37Chr 17, 42083525: 42083525
6NAGSNM_153006.2(NAGS): c.1289T> C (p.Leu430Pro)single nucleotide variantPathogenicrs104894605GRCh37Chr 17, 42084979: 42084979
7NAGSNM_153006.2(NAGS): c.1450T> C (p.Trp484Arg)single nucleotide variantPathogenicrs104894606GRCh37Chr 17, 42085140: 42085140
8NAGSNM_153006.2(NAGS): c.1299G> C (p.Glu433Asp)single nucleotide variantPathogenicrs104894607GRCh37Chr 17, 42084989: 42084989

Expression for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with N-Acetylglutamate Synthase Deficiency

Search GEO for disease gene expression data for N-Acetylglutamate Synthase Deficiency.

Pathways for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section

Compounds for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section

GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section

Products for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for N-Acetylglutamate Synthase Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet