MCID: NCT003
MIFTS: 24

N-Acetylglutamate Synthase Deficiency malady

Genetic diseases, Metabolic diseases, Rare diseases categories
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Summaries for N-Acetylglutamate Synthase Deficiency

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Genetics Home Reference:21 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 based summary: N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to n-acetylglutamate synthetase deficiency, and has symptoms including An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-acetylglutamate synthase).

Wikipedia:65 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. more...

Description from OMIM:46 237310

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

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Sources:
21Genetics Home Reference, 48Orphanet, 62UMLS, 20GeneTests, 46OMIM, 26ICD10 via Orphanet
See all sources

N-Acetylglutamate Synthase Deficiency, Aliases & Descriptions:

Name: N-Acetylglutamate Synthase Deficiency 20 21 46 62
Nags Deficiency 21 48 62
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 48 62
 
N-Acetyl Glutamate Synthetase Deficiency 62
N-Acetylglutamate Synthetase Deficiency 21
Hyperammonemia, Type Iii 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
nags deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

OMIM46 237310
ICD10 via Orphanet26 E72.2

Related Diseases for N-Acetylglutamate Synthase Deficiency

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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

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Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

HPO human phenotypes related to N-Acetylglutamate Synthase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 aggressive behavior HP:0000718
3 seizures HP:0001250
4 lethargy HP:0001254
5 coma HP:0001259
6 confusion HP:0001289
7 failure to thrive HP:0001508
8 hyperammonemia HP:0001987
9 vomiting HP:0002013
10 respiratory distress HP:0002098
11 cognitive impairment HP:0100543

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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Drug clinical trials:

Search ClinicalTrials for N-Acetylglutamate Synthase Deficiency

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

Genetic Tests for N-Acetylglutamate Synthase Deficiency

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Genetic tests related to N-Acetylglutamate Synthase Deficiency:

id Genetic test Affiliating Genes
1 N-Acetylglutamate Synthase Deficiency20 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

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Animal Models for N-Acetylglutamate Synthase Deficiency or affiliated genes

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Publications for N-Acetylglutamate Synthase Deficiency

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Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 14)
idTitleAuthorsYear
1
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn N-acetylglutamate synthase deficiency. (25354943)
2014
2
Low Dose of Carglumic Acid for Treatment of Hyperammonemia due to N-Acetylglutamate Synthase Deficiency. (25228620)
2014
3
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
4
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
2011
5
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
6
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
7
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. (18753752)
2008
8
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (15714518)
2005
9
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. (15480384)
2004
10
Mutation analysis in patients with N-acetylglutamate synthase deficiency. (12754705)
2003
11
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
12
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. (12447942)
2002
13
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (11131349)
2000
14
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. (7623444)
1995

Variations for N-Acetylglutamate Synthase Deficiency

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

64
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:

6
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

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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

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Compounds for genes affiliated with N-Acetylglutamate Synthase Deficiency

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GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

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Products for genes affiliated with N-Acetylglutamate Synthase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for N-Acetylglutamate Synthase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet