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NAGSD
MCID: NCT003
MIFTS: 36

N-Acetylglutamate Synthase Deficiency (NAGSD)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

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MalaCards integrated aliases for N-Acetylglutamate Synthase Deficiency:

Name: N-Acetylglutamate Synthase Deficiency 58 77 54 26 76 38 13
Nags Deficiency 58 54 26 60 76 56
Hyperammonemia, Type Iii 26 30 6 74
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 58 54 76
N-Acetylglutamate Synthetase Deficiency 58 26 76
Nagsd 58 76
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 60
N-Acetyl Glutamate Synthetase Deficiency 54
Deficiency, N-Acetylglutamate Synthase 41
N-Acetylglutamate Synthase 13
Nag Synthetase Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
hyperammonemia due to n-acetylglutamate synthase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM:

58
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:

33
n-acetylglutamate synthase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Inborn errors of metabolism


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Summaries for N-Acetylglutamate Synthase Deficiency

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NIH Rare Diseases : 54 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.

MalaCards based summary : N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to encephalopathy and movement disease, and has symptoms including seizures, respiratory distress and lethargy. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways is Arginine biosynthesis. The drugs Glutamic Acid and carbamide peroxide have been mentioned in the context of this disorder. Related phenotypes are seizures and failure to thrive

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle... more...

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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 Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.5
2 movement disease 10.3
3 aspartylglucosaminuria 10.2

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Symptoms & Phenotypes for N-Acetylglutamate Synthase Deficiency

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Human phenotypes related to N-Acetylglutamate Synthase Deficiency:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 Occasional (29-5%) HP:0001250
2 failure to thrive 60 33 Occasional (29-5%) HP:0001508
3 cognitive impairment 60 33 Occasional (29-5%) HP:0100543
4 vomiting 60 33 Frequent (79-30%) HP:0002013
5 respiratory distress 60 33 Very rare (<4-1%) HP:0002098
6 confusion 60 33 Occasional (29-5%) HP:0001289
7 coma 60 33 Occasional (29-5%) HP:0001259
8 hyperammonemia 60 33 Very frequent (99-80%) HP:0001987
9 lethargy 60 33 Occasional (29-5%) HP:0001254
10 ataxia 60 Very rare (<4-1%)
11 behavioral abnormality 60 Very rare (<4-1%)
12 global developmental delay 60 Occasional (29-5%)
13 hepatomegaly 60 Very rare (<4-1%)
14 microcephaly 60 Very rare (<4-1%)
15 stereotypy 60 Very rare (<4-1%)
16 fatigue 60 Occasional (29-5%)
17 myelodysplasia 60 Very rare (<4-1%)
18 feeding difficulties 60 Occasional (29-5%)
19 anxiety 60 Occasional (29-5%)
20 psychotic episodes 60 Very rare (<4-1%)
21 cerebral ischemia 60 Very rare (<4-1%)
22 aggressive behavior 33 HP:0000718
23 agitation 60 Occasional (29-5%)
24 headache 60 Occasional (29-5%)
25 diarrhea 60 Very rare (<4-1%)
26 stroke 60 Very rare (<4-1%)
27 insomnia 60 Occasional (29-5%)
28 encephalopathy 60 Very rare (<4-1%)
29 polyneuropathy 60 Very rare (<4-1%)
30 hyperglutaminemia 60 Occasional (29-5%)
31 nausea 60 Frequent (79-30%)
32 drowsiness 60 Occasional (29-5%)
33 reye syndrome-like episodes 60 Very rare (<4-1%)
34 hyperalaninemia 60 Occasional (29-5%)
35 poor appetite 60 Occasional (29-5%)
36 echolalia 60 Very rare (<4-1%)
37 loss of consciousness 60 Occasional (29-5%)
38 poor speech 60 Occasional (29-5%)
39 paraplegia 60 Very rare (<4-1%)
40 infantile muscular hypotonia 60 Frequent (79-30%)
41 mood changes 60 Occasional (29-5%)
42 acute hyperammonemia 60 Occasional (29-5%)
43 delirium 60 Very rare (<4-1%)
44 increased level of l-glutamic acid in blood 33 HP:0410068

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
confusion
coma
lethargy
neurobehavioral changes associated with hyperammonemia
more
Respiratory:
respiratory distress

Laboratory Abnormalities:
hyperammonemia
increased serum glutamine
decreased or absent serum citrulline
normal urinary orotic acid

Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Abdomen Gastrointestinal:
vomiting, recurrent

Clinical features from OMIM:

237310

UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:


seizures, respiratory distress, lethargy, vomiting, recurrent

GenomeRNAi Phenotypes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 8.8 NAGS SLC13A3 SLC22A6
Sources

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
2
carbamide peroxide Approved 124-43-6
3 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
2 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

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Genetic Tests for N-Acetylglutamate Synthase Deficiency

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Genetic tests related to N-Acetylglutamate Synthase Deficiency:

# Genetic test Affiliating Genes
1 Hyperammonemia, Type Iii 30 NAGS
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Anatomical Context for N-Acetylglutamate Synthase Deficiency

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Publications for N-Acetylglutamate Synthase Deficiency

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Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 28)
# Title Authors Year
1
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature. ( 29364180 )
2018
2
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. ( 30337552 )
2018
3
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. ( 27147233 )
2017
4
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. ( 28275973 )
2017
5
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. ( 27570737 )
2016
6
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. ( 25787344 )
2015
7
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. ( 25994872 )
2015
8
Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency. ( 25228620 )
2014
9
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency. ( 25354943 )
2014
10
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome. ( 24233332 )
2014
11
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. ( 23250120 )
2013
12
Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia. ( 30780843 )
2012
13
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. ( 21941437 )
2011
14
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. ( 23776373 )
2011
15
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. ( 19533169 )
2010
16
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. ( 18753752 )
2008
17
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset. ( 17510757 )
2007
18
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. ( 17703373 )
2007
19
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. ( 15714518 )
2005
20
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. ( 15858972 )
2005
21
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. ( 15480384 )
2004
22
Mutation analysis in patients with N-acetylglutamate synthase deficiency. ( 12754705 )
2003
23
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. ( 14605506 )
2003
24
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. ( 12447942 )
2002
25
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? ( 11131349 )
2000
26
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. ( 7623444 )
1995
27
N-acetylglutamate synthetase (NAGS) deficiency. ( 7741005 )
1994
28
N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. ( 7164912 )
1982
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Variations for N-Acetylglutamate Synthase Deficiency

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

76
# 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

ClinVar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAGS NM_153006.2(NAGS): c.1025delG (p.Arg342Profs) deletion Pathogenic rs730880266 GRCh38 Chromosome 17, 44006638: 44006638
2 NAGS NM_153006.2(NAGS): c.1025delG (p.Arg342Profs) deletion Pathogenic rs730880266 GRCh37 Chromosome 17, 42084006: 42084006
3 NAGS NM_153006.2(NAGS): c.971G> A (p.Trp324Ter) single nucleotide variant Pathogenic rs104894604 GRCh37 Chromosome 17, 42083952: 42083952
4 NAGS NM_153006.2(NAGS): c.971G> A (p.Trp324Ter) single nucleotide variant Pathogenic rs104894604 GRCh38 Chromosome 17, 44006584: 44006584
5 NAGS NM_153006.2(NAGS): c.916-2A> T single nucleotide variant Pathogenic rs730880267 GRCh38 Chromosome 17, 44006527: 44006527
6 NAGS NM_153006.2(NAGS): c.916-2A> T single nucleotide variant Pathogenic rs730880267 GRCh37 Chromosome 17, 42083895: 42083895
7 NAGS NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs) duplication Pathogenic rs730880303 GRCh38 Chromosome 17, 44007629: 44007629
8 NAGS NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs) duplication Pathogenic rs730880303 GRCh37 Chromosome 17, 42084997: 42084997
9 NAGS NM_153006.2(NAGS): c.835G> A (p.Ala279Thr) single nucleotide variant Pathogenic rs121912591 GRCh37 Chromosome 17, 42083525: 42083525
10 NAGS NM_153006.2(NAGS): c.835G> A (p.Ala279Thr) single nucleotide variant Pathogenic rs121912591 GRCh38 Chromosome 17, 44006157: 44006157
11 NAGS NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro) single nucleotide variant Pathogenic rs104894605 GRCh37 Chromosome 17, 42084979: 42084979
12 NAGS NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro) single nucleotide variant Pathogenic rs104894605 GRCh38 Chromosome 17, 44007611: 44007611
13 NAGS NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg) single nucleotide variant Pathogenic rs104894606 GRCh37 Chromosome 17, 42085140: 42085140
14 NAGS NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg) single nucleotide variant Pathogenic rs104894606 GRCh38 Chromosome 17, 44007772: 44007772
15 NAGS NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp) single nucleotide variant Pathogenic rs104894607 GRCh37 Chromosome 17, 42084989: 42084989
16 NAGS NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp) single nucleotide variant Pathogenic rs104894607 GRCh38 Chromosome 17, 44007621: 44007621
17 NAGS NM_153006.2(NAGS): c.182A> G (p.Glu61Gly) single nucleotide variant Benign/Likely benign rs113134544 GRCh37 Chromosome 17, 42082213: 42082213
18 NAGS NM_153006.2(NAGS): c.182A> G (p.Glu61Gly) single nucleotide variant Benign/Likely benign rs113134544 GRCh38 Chromosome 17, 44004845: 44004845
19 NAGS NM_153006.2(NAGS): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs55708447 GRCh37 Chromosome 17, 42084067: 42084067
20 NAGS NM_153006.2(NAGS): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs55708447 GRCh38 Chromosome 17, 44006699: 44006699
21 NAGS NM_153006.2(NAGS): c.1096+20C> G single nucleotide variant Benign rs228771 GRCh38 Chromosome 17, 44006729: 44006729
22 NAGS NM_153006.2(NAGS): c.1096+20C> G single nucleotide variant Benign rs228771 GRCh37 Chromosome 17, 42084097: 42084097
23 NAGS NM_153006.2(NAGS): c.1451+9T> C single nucleotide variant Benign rs228773 GRCh37 Chromosome 17, 42085150: 42085150
24 NAGS NM_153006.2(NAGS): c.1451+9T> C single nucleotide variant Benign rs228773 GRCh38 Chromosome 17, 44007782: 44007782
25 NAGS NM_153006.2(NAGS): c.*3C> T single nucleotide variant Benign rs186636 GRCh38 Chromosome 17, 44008604: 44008604
26 NAGS NM_153006.2(NAGS): c.*3C> T single nucleotide variant Benign rs186636 GRCh37 Chromosome 17, 42085972: 42085972
27 NAGS NM_153006.2(NAGS): c.904A> G (p.Ser302Gly) single nucleotide variant Uncertain significance rs377702343 GRCh38 Chromosome 17, 44006226: 44006226
28 NAGS NM_153006.2(NAGS): c.904A> G (p.Ser302Gly) single nucleotide variant Uncertain significance rs377702343 GRCh37 Chromosome 17, 42083594: 42083594
29 NAGS NM_153006.2(NAGS): c.1231C> A (p.Leu411Met) single nucleotide variant Uncertain significance rs199923863 GRCh38 Chromosome 17, 44007457: 44007457
30 NAGS NM_153006.2(NAGS): c.1231C> A (p.Leu411Met) single nucleotide variant Uncertain significance rs199923863 GRCh37 Chromosome 17, 42084825: 42084825
31 NAGS NM_153006.2(NAGS): c.1281C> G (p.Ala427=) single nucleotide variant Uncertain significance rs371886833 GRCh38 Chromosome 17, 44007603: 44007603
32 NAGS NM_153006.2(NAGS): c.1281C> G (p.Ala427=) single nucleotide variant Uncertain significance rs371886833 GRCh37 Chromosome 17, 42084971: 42084971
33 NAGS NM_153006.2(NAGS): c.1398G> A (p.Arg466=) single nucleotide variant Conflicting interpretations of pathogenicity rs369492320 GRCh38 Chromosome 17, 44007720: 44007720
34 NAGS NM_153006.2(NAGS): c.1398G> A (p.Arg466=) single nucleotide variant Conflicting interpretations of pathogenicity rs369492320 GRCh37 Chromosome 17, 42085088: 42085088
35 NAGS NM_153006.2(NAGS): c.1268+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201629145 GRCh38 Chromosome 17, 44007505: 44007505
36 NAGS NM_153006.2(NAGS): c.1268+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201629145 GRCh37 Chromosome 17, 42084873: 42084873
37 NAGS NM_153006.2(NAGS): c.1302C> T (p.Pro434=) single nucleotide variant Conflicting interpretations of pathogenicity rs150004962 GRCh38 Chromosome 17, 44007624: 44007624
38 NAGS NM_153006.2(NAGS): c.1302C> T (p.Pro434=) single nucleotide variant Conflicting interpretations of pathogenicity rs150004962 GRCh37 Chromosome 17, 42084992: 42084992
39 NAGS NM_153006.2(NAGS): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs754480096 GRCh38 Chromosome 17, 44004779: 44004779
40 NAGS NM_153006.2(NAGS): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs754480096 GRCh37 Chromosome 17, 42082147: 42082147
41 NAGS NM_153006.2(NAGS): c.681C> G (p.Ala227=) single nucleotide variant Uncertain significance rs886052982 GRCh38 Chromosome 17, 44005891: 44005891
42 NAGS NM_153006.2(NAGS): c.681C> G (p.Ala227=) single nucleotide variant Uncertain significance rs886052982 GRCh37 Chromosome 17, 42083259: 42083259
43 NAGS NM_153006.2(NAGS): c.807C> T (p.Ser269=) single nucleotide variant Uncertain significance rs767368629 GRCh38 Chromosome 17, 44006129: 44006129
44 NAGS NM_153006.2(NAGS): c.807C> T (p.Ser269=) single nucleotide variant Uncertain significance rs767368629 GRCh37 Chromosome 17, 42083497: 42083497
45 NAGS NM_153006.2(NAGS): c.*211C> T single nucleotide variant Benign rs640631 GRCh38 Chromosome 17, 44008812: 44008812
46 NAGS NM_153006.2(NAGS): c.*211C> T single nucleotide variant Benign rs640631 GRCh37 Chromosome 17, 42086180: 42086180
47 NAGS NM_153006.2(NAGS): c.374C> A (p.Thr125Lys) single nucleotide variant Likely benign rs185863881 GRCh37 Chromosome 17, 42082405: 42082405
48 NAGS NM_153006.2(NAGS): c.374C> A (p.Thr125Lys) single nucleotide variant Likely benign rs185863881 GRCh38 Chromosome 17, 44005037: 44005037
49 NAGS NM_153006.2(NAGS): c.1368C> G (p.Ser456=) single nucleotide variant Benign/Likely benign rs147700427 GRCh37 Chromosome 17, 42085058: 42085058
50 NAGS NM_153006.2(NAGS): c.1368C> G (p.Ser456=) single nucleotide variant Benign/Likely benign rs147700427 GRCh38 Chromosome 17, 44007690: 44007690
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Expression for N-Acetylglutamate Synthase Deficiency

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

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

38
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
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GO Terms for N-Acetylglutamate Synthase Deficiency

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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 8.62 SLC13A3 SLC22A6
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Sources for N-Acetylglutamate Synthase Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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