MCID: NCT003
MIFTS: 20

N-Acetylglutamate Synthase Deficiency malady

Metabolic diseases category

Summaries for N-Acetylglutamate Synthase Deficiency

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-acetylglutamate synthase).

Wikipedia:63 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:
20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
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 46
hyperammonemia, type iii 21 60
nags deficiency 21 48
hyperammonemia due to n-acetylglutamate synthetase deficiency 48
n-acetylglutamate synthetase deficiency 21


External Ids:

OMIM46 237310
ICD10 via Orphanet26 E72.2

Related Diseases for N-Acetylglutamate Synthase Deficiency

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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

Clinical Features for N-Acetylglutamate Synthase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

237310

Clinical synopsis from OMIM:

237310

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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Sources:
5CenterWatch, 41NIH 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

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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

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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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Genetic Variations for N-Acetylglutamate Synthase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for N-Acetylglutamate Synthase Deficiency:

62
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

Expression for genes affiliated with N-Acetylglutamate Synthase Deficiency

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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

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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet