NAGSD
MCID: NCT003
MIFTS: 43

N-Acetylglutamate Synthase Deficiency (NAGSD)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

MalaCards integrated aliases for N-Acetylglutamate Synthase Deficiency:

Name: N-Acetylglutamate Synthase Deficiency 57 74 20 43 73 36 13
Nags Deficiency 57 20 43 58 73 54
Hyperammonemia, Type Iii 43 29 6 71
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 57 20 73
N-Acetylglutamate Synthetase Deficiency 57 43 73
Nagsd 57 73
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 58
N-Acetyl Glutamate Synthetase Deficiency 20
Deficiency, N-Acetylglutamate Synthase 39
Nag Synthetase Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
hyperammonemia due to n-acetylglutamate synthase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype depending on residual enzyme activity
patients with null mutations have neonatal onset within 72 hours of birth
early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency
patients with residual enzyme activity have childhood or adult onset
can be effectively treated with n-carbamylglutamate


HPO:

31
n-acetylglutamate synthase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for N-Acetylglutamate Synthase Deficiency

MedlinePlus Genetics : 43 N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of 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 brain is especially sensitive to the effects of excess ammonia.The signs and symptoms of N-acetylglutamate synthase deficiency often become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have difficulty controlling his or her breathing rate or body temperature. Severely affected babies may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency do not appear until later in life. Some people with this form of the disorder notice that eating high-protein foods, such as meat, affects how they feel, although they may not know why. In many affected adults, illness or other stress can trigger episodes of vomiting, lack of coordination, headaches, confusion, behavioral changes, or coma.

MalaCards based summary : N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to aspartylglucosaminuria and carbonic anhydrase va deficiency, hyperammonemia due to, and has symptoms including seizures, lethargy and respiratory distress. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways is Arginine biosynthesis. The drug carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are vomiting and infantile muscular hypotonia

GARD : 20 N-acetylglutamate synthase deficiency (NAGS) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with NAGS are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up in the blood. NAGS and other similar disorders are a type of metabolic condition known as a urea cycle disorder. Signs and symptoms in newborns with NAGS may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. NAGS is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion. Treatment may include maintaining a low protein diet and using medications that provide alternative routes to remove ammonia from the body.

OMIM® : 57 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency (237300), since the CPS1 enzyme (608307) has an absolute requirement for NAGS (Caldovic et al., 2007). (237310) (Updated 05-Mar-2021)

KEGG : 36 N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma.

UniProtKB/Swiss-Prot : 73 N-acetylglutamate synthase deficiency: Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness.

Wikipedia : 74 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle... more...

Related Diseases for N-Acetylglutamate Synthase Deficiency

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 aspartylglucosaminuria 11.2
2 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
3 urea cycle disorder 10.6
4 encephalopathy 10.4
5 ocular motor apraxia 10.3
6 metabolic acidosis 10.2
7 diarrhea 10.2
8 liver disease 10.2
9 movement disease 10.2
10 patent ductus venosus 10.2
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 autosomal recessive disease 10.2
13 organic acidemia 10.2
14 non-alcoholic fatty liver disease 10.2
15 headache 10.2
16 carnitine deficiency, systemic primary 10.0
17 bacterial sepsis 10.0
18 fatty liver disease 10.0
19 neonatal abstinence syndrome 10.0
20 hypoglycemia 10.0

Graphical network of the top 20 diseases related to N-Acetylglutamate Synthase Deficiency:



Diseases related to N-Acetylglutamate Synthase Deficiency

Symptoms & Phenotypes for N-Acetylglutamate Synthase Deficiency

Human phenotypes related to N-Acetylglutamate Synthase Deficiency:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
2 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
3 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
4 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
5 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
6 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
7 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
8 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
9 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
10 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
11 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
12 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
13 hyperglutaminemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003217
14 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
15 hyperalaninemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003348
16 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
17 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
18 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
19 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
20 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
21 mood changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001575
22 acute hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008281
23 seizure 31 occasional (7.5%) HP:0001250
24 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
25 hepatomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0002240
26 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
27 stereotypy 58 31 very rare (1%) Very rare (<4-1%) HP:0000733
28 myelodysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002863
29 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
30 cerebral ischemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002637
31 encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001298
32 respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002098
33 diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0002014
34 polyneuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001271
35 paraplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0010550
36 echolalia 58 31 very rare (1%) Very rare (<4-1%) HP:0010529
37 psychotic episodes 58 31 very rare (1%) Very rare (<4-1%) HP:0000725
38 delirium 58 31 very rare (1%) Very rare (<4-1%) HP:0031258
39 reye syndrome-like episodes 58 31 very rare (1%) Very rare (<4-1%) HP:0006582
40 hyperammonemia 58 31 Very frequent (99-80%) HP:0001987
41 confusion 58 31 Occasional (29-5%) HP:0001289
42 seizures 58 Occasional (29-5%)
43 behavioral abnormality 58 Very rare (<4-1%)
44 aggressive behavior 31 HP:0000718
45 increased level of l-glutamic acid in blood 31 HP:0410068

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
lethargy
coma
confusion
neurobehavioral changes associated with hyperammonemia
more
Laboratory Abnormalities:
hyperammonemia
increased serum glutamine
decreased or absent serum citrulline
normal urinary orotic acid

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Growth Other:
failure to thrive

Respiratory:
respiratory distress

Abdomen Gastrointestinal:
vomiting, recurrent

Clinical features from OMIM®:

237310 (Updated 05-Mar-2021)

UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:


seizures, lethargy, respiratory distress, vomiting, recurrent

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

Drugs for N-Acetylglutamate Synthase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

Genetic Tests for N-Acetylglutamate Synthase Deficiency

Genetic tests related to N-Acetylglutamate Synthase Deficiency:

# Genetic test Affiliating Genes
1 Hyperammonemia, Type Iii 29 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

MalaCards organs/tissues related to N-Acetylglutamate Synthase Deficiency:

40
Liver

Publications for N-Acetylglutamate Synthase Deficiency

Articles related to N-Acetylglutamate Synthase Deficiency:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. 6 57 54 61
17421020 2007
2
Mutation analysis in patients with N-acetylglutamate synthase deficiency. 57 6 61 54
12754705 2003
3
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 57 61 6 54
12594532 2003
4
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate. 57 6
9877039 1998
5
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. 61 54 57
7623444 1995
6
A longitudinal study of urea cycle disorders. 57
25135652 2014
7
Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome. 57
10626533 1999
8
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders. 57
1405478 1992
9
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. 57
2044610 1991
10
Late-onset form of partial N-acetylglutamate synthetase deficiency. 57
2373115 1990
11
N-acetylglutamate synthetase deficiency, a second patient. 57
3139931 1988
12
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. 57
7453791 1981
13
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. 54 61
19533169 2010
14
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. 54 61
18414145 2008
15
Site-directed mutagenesis studies of acetylglutamate synthase delineate the site for the arginine inhibitor. 61 54
18319063 2008
16
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. 61 54
18753752 2008
17
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. 54 61
17703373 2007
18
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset. 54 61
17510757 2007
19
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 61 54
15878741 2005
20
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. 54 61
15714518 2005
21
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. 54 61
15858972 2005
22
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. 61 54
15480384 2004
23
Mammalian N-acetylglutamate synthase. 54 61
15050968 2004
24
N-acetylglutamate and its changing role through evolution. 54 61
12633501 2003
25
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. 61 54
12447942 2002
26
Cloning and expression of the human N-acetylglutamate synthase gene. 61 54
12459178 2002
27
N-acetylglutamate synthetase (NAGS) deficiency. 54 61
7741005 1994
28
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase. 61
33574402 2021
29
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. 61
33231058 2020
30
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency]. 61
33306822 2020
31
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature. 61
33036647 2020
32
Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family. 61
32021803 2020
33
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. 61
31196016 2019
34
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. 61
30337552 2018
35
Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report. 61
30443462 2018
36
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 61
29094226 2018
37
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature. 61
29364180 2018
38
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. 61
28888854 2017
39
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. 61
28281899 2017
40
Citrulline for urea cycle disorders in Japan. 61
27613354 2017
41
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. 61
28275973 2017
42
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. 61
27147233 2017
43
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. 61
27771289 2016
44
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. 61
27570737 2016
45
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 61
27037498 2016
46
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 61
27215558 2016
47
Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders. 61
30034506 2016
48
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. 61
25787344 2015
49
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. 61
25994872 2015
50
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency. 61
25354943 2014

Variations for N-Acetylglutamate Synthase Deficiency

ClinVar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAGS NM_153006.3(NAGS):c.971G>A (p.Trp324Ter) SNV Pathogenic 2428 rs104894604 17:42083952-42083952 17:44006584-44006584
2 NAGS NM_153006.3(NAGS):c.916-2A>T SNV Pathogenic 2429 rs730880267 17:42083895-42083895 17:44006527-44006527
3 NAGS NM_153006.3(NAGS):c.1307dup (p.Thr439fs) Duplication Pathogenic 2430 rs730880303 17:42084996-42084997 17:44007628-44007629
4 NAGS NM_153006.3(NAGS):c.835G>A (p.Ala279Thr) SNV Pathogenic 2431 rs121912591 17:42083525-42083525 17:44006157-44006157
5 NAGS NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) SNV Pathogenic 2432 rs104894605 17:42084979-42084979 17:44007611-44007611
6 NAGS NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg) SNV Pathogenic 2433 rs104894606 17:42085140-42085140 17:44007772-44007772
7 NAGS NM_153006.3(NAGS):c.1299G>C (p.Glu433Asp) SNV Pathogenic 2434 rs104894607 17:42084989-42084989 17:44007621-44007621
8 NAGS NM_153006.3(NAGS):c.570G>A (p.Trp190Ter) SNV Pathogenic 529424 rs755257734 17:42083148-42083148 17:44005780-44005780
9 NAGS NM_153006.3(NAGS):c.34del (p.Ala12fs) Deletion Pathogenic 851292 17:42082063-42082063 17:44004695-44004695
10 NAGS NM_153006.3(NAGS):c.1096+2T>G SNV Pathogenic 931446 17:42084079-42084079 17:44006711-44006711
11 NAGS NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter) SNV Pathogenic 946249 17:42084708-42084708 17:44007340-44007340
12 NAGS NM_153006.3(NAGS):c.569G>A (p.Trp190Ter) SNV Pathogenic 952278 17:42083147-42083147 17:44005779-44005779
13 NAGS NM_153006.3(NAGS):c.1025del (p.Arg342fs) Deletion Pathogenic 2427 rs730880266 17:42084006-42084006 17:44006638-44006638
14 NAGS NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) SNV Pathogenic 957890 17:42084982-42084982 17:44007614-44007614
15 NAGS NM_153006.3(NAGS):c.1097-2A>G SNV Likely pathogenic 970970 17:42084689-42084689 17:44007321-44007321
16 NAGS NM_153006.3(NAGS):c.1268+2T>C SNV Likely pathogenic 623195 rs202041339 17:42084864-42084864 17:44007496-44007496
17 NAGS NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs) Insertion Likely pathogenic 590819 rs1567941557 17:42082133-42082134 17:44004765-44004766
18 NAGS NM_153006.3(NAGS):c.1268+1G>A SNV Likely pathogenic 647331 rs1597866317 17:42084863-42084863 17:44007495-44007495
19 NAGS NM_153006.3(NAGS):c.612A>G (p.Val204=) SNV Conflicting interpretations of pathogenicity 387973 rs139907815 17:42083190-42083190 17:44005822-44005822
20 NAGS NM_153006.3(NAGS):c.246G>A (p.Pro82=) SNV Conflicting interpretations of pathogenicity 386611 rs747154237 17:42082277-42082277 17:44004909-44004909
21 NAGS NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) SNV Conflicting interpretations of pathogenicity 377250 rs185863881 17:42082405-42082405 17:44005037-44005037
22 NAGS NM_153006.3(NAGS):c.1281C>G (p.Ala427=) SNV Conflicting interpretations of pathogenicity 323449 rs371886833 17:42084971-42084971 17:44007603-44007603
23 NAGS NM_153006.3(NAGS):c.722T>C (p.Val241Ala) SNV Conflicting interpretations of pathogenicity 731254 rs201142696 17:42083412-42083412 17:44006044-44006044
24 NAGS NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) SNV Conflicting interpretations of pathogenicity 784582 rs140481641 17:42084810-42084810 17:44007442-44007442
25 NAGS NM_153006.3(NAGS):c.1302C>T (p.Pro434=) SNV Conflicting interpretations of pathogenicity 323450 rs150004962 17:42084992-42084992 17:44007624-44007624
26 NAGS NM_153006.3(NAGS):c.1274A>G (p.Asn425Ser) SNV Uncertain significance 971792 17:42084964-42084964 17:44007596-44007596
27 NAGS NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys) SNV Uncertain significance 423967 rs915618486 17:42085136-42085136 17:44007768-44007768
28 NAGS NM_153006.3(NAGS):c.8C>G (p.Thr3Arg) SNV Uncertain significance 990474 17:42082039-42082039 17:44004671-44004671
29 NAGS NM_153006.3(NAGS):c.25G>A (p.Val9Ile) SNV Uncertain significance 990475 17:42082056-42082056 17:44004688-44004688
30 NAGS NM_153006.3(NAGS):c.34G>C (p.Ala12Pro) SNV Uncertain significance 426209 rs759453873 17:42082065-42082065 17:44004697-44004697
31 NAGS NM_153006.3(NAGS):c.719C>T (p.Ser240Leu) SNV Uncertain significance 990476 17:42083409-42083409 17:44006041-44006041
32 NAGS NM_153006.3(NAGS):c.715G>A (p.Val239Ile) SNV Uncertain significance 639741 rs143427275 17:42083405-42083405 17:44006037-44006037
33 NAGS NM_153006.3(NAGS):c.534G>A (p.Pro178=) SNV Uncertain significance 648992 rs539061299 17:42083112-42083112 17:44005744-44005744
34 NAGS NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys) SNV Uncertain significance 640286 rs201703838 17:42084828-42084828 17:44007460-44007460
35 NAGS NM_153006.3(NAGS):c.1270T>A (p.Tyr424Asn) SNV Uncertain significance 529423 rs1555620800 17:42084960-42084960 17:44007592-44007592
36 NAGS NM_153006.3(NAGS):c.504_505delinsTT (p.Met169Leu) Indel Uncertain significance 840787 17:42083082-42083083 17:44005714-44005715
37 NAGS NM_153006.3(NAGS):c.744G>T (p.Trp248Cys) SNV Uncertain significance 957889 17:42083434-42083434 17:44006066-44006066
38 NAGS NM_153006.3(NAGS):c.1171C>G (p.Leu391Val) SNV Uncertain significance 852706 17:42084765-42084765 17:44007397-44007397
39 NAGS NM_153006.3(NAGS):c.1113C>A (p.Phe371Leu) SNV Uncertain significance 857258 17:42084707-42084707 17:44007339-44007339
40 NAGS NM_153006.3(NAGS):c.1263C>G (p.Ser421=) SNV Uncertain significance 888958 17:42084857-42084857 17:44007489-44007489
41 NAGS NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg) SNV Uncertain significance 888959 17:42084997-42084997 17:44007629-44007629
42 NAGS NM_153006.3(NAGS):c.1554C>G (p.Ala518=) SNV Uncertain significance 889640 17:42085918-42085918 17:44008550-44008550
43 NAGS NM_153006.3(NAGS):c.*43A>G SNV Uncertain significance 889641 17:42086012-42086012 17:44008644-44008644
44 NAGS NM_153006.3(NAGS):c.*90G>A SNV Uncertain significance 889642 17:42086059-42086059 17:44008691-44008691
45 NAGS NM_153006.3(NAGS):c.*115G>A SNV Uncertain significance 889643 17:42086084-42086084 17:44008716-44008716
46 NAGS NM_153006.3(NAGS):c.8C>T (p.Thr3Met) SNV Uncertain significance 890598 17:42082039-42082039 17:44004671-44004671
47 NAGS NM_153006.3(NAGS):c.190G>A (p.Ala64Thr) SNV Uncertain significance 890599 17:42082221-42082221 17:44004853-44004853
48 NAGS NM_153006.3(NAGS):c.429G>A (p.Val143=) SNV Uncertain significance 891154 17:42083007-42083007 17:44005639-44005639
49 NAGS NM_153006.3(NAGS):c.630C>T (p.Asn210=) SNV Uncertain significance 891155 17:42083208-42083208 17:44005840-44005840
50 NAGS NM_153006.3(NAGS):c.721G>A (p.Val241Met) SNV Uncertain significance 891156 17:42083411-42083411 17:44006043-44006043

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

73
# Symbol AA change Variation ID SNP ID
1 NAGS p.Cys200Arg VAR_023505 rs118822341
2 NAGS p.Ala279Pro VAR_023506
3 NAGS p.Ser410Pro VAR_023507
4 NAGS p.Leu430Pro VAR_023508 rs104894605
5 NAGS p.Trp484Arg VAR_023509 rs104894606
6 NAGS p.Ala518Thr VAR_023510 rs745511282

Expression for N-Acetylglutamate Synthase Deficiency

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

Pathways for N-Acetylglutamate Synthase Deficiency

Pathways related to N-Acetylglutamate Synthase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220

GO Terms for N-Acetylglutamate Synthase Deficiency

Cellular components related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.62 SLC22A6 SLC13A3

Biological processes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.16 SLC22A6 SLC13A3
2 anion transmembrane transport GO:0098656 8.96 SLC22A6 SLC13A3
3 alpha-ketoglutarate transport GO:0015742 8.62 SLC22A6 SLC13A3

Molecular functions related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.62 SLC22A6 SLC13A3

Sources for N-Acetylglutamate Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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