MCID: NCT003
MIFTS: 15

N-Acetylglutamate Synthase Deficiency malady

Metabolic category

Summaries for N-Acetylglutamate Synthase Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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: N-Acetylglutamate Synthase Deficiency, also known as hyperammonemia, type iii, is related to n-acetylglutamate synthetase deficiency and acetyl-carnitine deficiency. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-acetylglutamate synthase).

Wikipedia:64 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. more...

Description from OMIM:47 237310

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

Sources:
21Genetics Home Reference, 49Orphanet, 20GeneTests, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
nags deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

n-acetylglutamate synthase deficiency 20 21 47
hyperammonemia, type iii 21 61
nags deficiency 21 49
hyperammonemia due to n-acetylglutamate synthetase deficiency 49
n-acetylglutamate synthetase deficiency 21


External Ids:

OMIM47 237310
ICD10 via Orphanet26 E72.2

Related Diseases for N-Acetylglutamate Synthase Deficiency

Sources:
17GeneCards, 18GeneDecks
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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
2acetyl-carnitine deficiency10.1

Clinical Features for N-Acetylglutamate Synthase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

237310

Clinical synopsis from OMIM:

237310

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests
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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

Animal Models for N-Acetylglutamate Synthase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for N-Acetylglutamate Synthase Deficiency

Sources:
51PubMed
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Articles related to N-Acetylglutamate Synthase Deficiency:

idTitleAuthorsYear
1
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
2
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
3
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. (17703373)
2007
4
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
5
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. (7623444)
1995

Genetic Variations for N-Acetylglutamate Synthase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for N-Acetylglutamate Synthase Deficiency:

63
id Symbol AA change Variation SNP ID
1NAGSp.Cys200ArgVAR_023505
2NAGSp.Ala279ProVAR_023506
3NAGSp.Ser410ProVAR_023507
4NAGSp.Leu430ProVAR_023508
5NAGSp.Trp484ArgVAR_023509
6NAGSp.Ala518ThrVAR_023510

Expression for genes affiliated with N-Acetylglutamate Synthase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with N-Acetylglutamate Synthase Deficiency

GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

Products for genes affiliated with N-Acetylglutamate Synthase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for N-Acetylglutamate Synthase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet