MCID: CRB186
MIFTS: 53

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

MalaCards integrated aliases for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

Name: Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 57
Carbamoyl Phosphate Synthetase I Deficiency 57 25 75 37
Carbamoyl-Phosphate Synthase I Deficiency Disease 25 44 73
Congenital Hyperammonemia, Type I 25 29 6
Cps I Deficiency 57 12 75
Carbamoyl Phosphate Synthetase I Deficiency Disease 12 15
Carbamoyl Phosphate Synthetase 1 Deficiency 53 75
Carbamoylphosphate Synthetase I Deficiency 57 13
Cps1d 59 75
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 53
Hyperammonemia Due to Carbamoyl Phosphate Synthetase I Deficiency 75
Carbamyl-Phosphate Synthetase I Deficiency Disease 25
Carbamoyl-Phosphate Synthetase 1 Deficiency 59
Carbamoyl-Phosphate Synthetase I Deficiency 59
Deficiency, Carbamoylphosphate Synthetase I 40
Carbamyl Phosphate Synthetase Deficiency 53
Carbamoyl-Phosphate Synthetase Deficiency 59
Carbamoyl Phosphate Synthetase Deficiency 55
Cps 1 Deficiency 53
Cps1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
carbamoyl-phosphate synthetase 1 deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Finland),<1/1000000 (United States),1-9/1000000 (Japan); Age of onset: All ages,Neonatal; Age of death: any age,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two types - lethal neonatal and less severe, late onset
prevalence of 1 in 200,000 to 1 in 800,000


HPO:

32
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

OMIM : 57 Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800). (237300)

MalaCards based summary : Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to, also known as carbamoyl phosphate synthetase i deficiency, is related to argininosuccinic aciduria and argininemia. An important gene associated with Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to is CPS1 (Carbamoyl-Phosphate Synthase 1), and among its related pathways/superpathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. The drugs Acetohydroxamic Acid and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are seizures and muscular hypotonia

UniProtKB/Swiss-Prot : 75 Carbamoyl phosphate synthetase 1 deficiency: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.

NIH Rare Diseases : 53 Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns 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 individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.

Genetics Home Reference : 25 Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). 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.

Disease Ontology : 12 An amino acid metabolic disorder that involves accumulation of ammonia in the blood.

Related Diseases for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Diseases related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 argininosuccinic aciduria 30.2 ASS1 NAGS OTC
2 argininemia 29.5 ASS1 CPS1 NAGS OTC
3 ornithine transcarbamylase deficiency, hyperammonemia due to 29.4 ASS1 CPS1 NAGS OTC
4 urea cycle disorder 27.3 ASS1 CPS1 NAGS OTC
5 nutritional deficiency disease 11.5
6 aging 10.1
7 leukodystrophy 10.1
8 3-methylglutaconic aciduria 10.1
9 postpartum psychosis 9.7 ASS1 OTC
10 citrullinemia, classic 9.6 ASS1 OTC
11 reye syndrome 9.5 ASS1 OTC
12 orotic aciduria 9.2 ASS1 OTC
13 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.0 CPS1 NAGS OTC
14 propionic acidemia 8.7 ASS1 NAGS OTC
15 carbonic anhydrase va deficiency, hyperammonemia due to 8.4 ASS1 CPS1 NAGS OTC

Graphical network of the top 20 diseases related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:



Diseases related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to

Symptoms & Phenotypes for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Symptoms via clinical synopsis from OMIM:

57
Neurologic:
seizures
ataxia
irritability
coma
lethargy
more
Abdomen Gastrointestinal:
vomiting
protein avoidance

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis

Growth:
failure to thrive

Laboratory Abnormalities:
hyperammonemia
low plasma arginine
low plasma citrulline
low urinary orotic acid
hepatic carbamoylphosphate synthetase i deficiency


Clinical features from OMIM:

237300

Human phenotypes related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 episodic ammonia intoxication 59 32 hallmark (90%) Very frequent (99-80%) HP:0001951
4 hyperammonemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001987
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
7 hypoargininemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005961
8 irritability 32 HP:0000737
9 intellectual disability 32 HP:0001249
10 ataxia 32 HP:0001251
11 lethargy 32 HP:0001254
12 coma 32 HP:0001259
13 global developmental delay 32 HP:0001263
14 stroke 32 occasional (7.5%) HP:0001297
15 failure to thrive 32 HP:0001508
16 respiratory alkalosis 32 HP:0001950
17 vomiting 32 HP:0002013
18 protein avoidance 32 HP:0002038
19 cerebral edema 32 HP:0002181
20 low plasma citrulline 32 HP:0003572

MGI Mouse Phenotypes related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.55 NAGS OTC ASS1 CPS1 HMOX2
2 integument MP:0010771 9.26 ASS1 HMOX2 NAGS OTC
3 mortality/aging MP:0010768 9.02 ASS1 CPS1 HMOX2 NAGS OTC

Drugs & Therapeutics for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Drugs for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetohydroxamic Acid Approved Phase 1, Phase 2 546-88-3 1990
2
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
3
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
4 Hematinics Phase 2
5 Liver Extracts Phase 2,Phase 1
6 Struvite Phase 1, Phase 2
7 Vaccines
8 arginine Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
4 Manipulating the Gut Microbiome Study Active, not recruiting NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
5 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
6 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
7 L-arginine Concentrations and CPS Polymorphisms in VLBW Infants Completed NCT00554866 Not Applicable
8 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to

Cochrane evidence based reviews: carbamoyl-phosphate synthase i deficiency disease

Genetic Tests for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Genetic tests related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

# Genetic test Affiliating Genes
1 Congenital Hyperammonemia, Type I 29 CPS1

Anatomical Context for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

MalaCards organs/tissues related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

41
Brain, Liver

Publications for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Articles related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

# Title Authors Year
1
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. ( 28526534 )
2017
2
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency. ( 19309799 )
2009
3
[Carbamoyl phosphate synthetase I deficiency]. ( 12013996 )
2002
4
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]. ( 12080609 )
2001
5
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. ( 11474210 )
2001
6
[Carbamoyl phosphate synthetase I deficiency]. ( 11462458 )
2001
7
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. ( 11536261 )
2001
8
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. ( 9711878 )
1998
9
Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency. ( 9323570 )
1997
10
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. ( 8273985 )
1994

Variations for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

UniProtKB/Swiss-Prot genetic disease variations for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

75 (show top 50) (show all 141)
# Symbol AA change Variation ID SNP ID
1 CPS1 p.Thr544Met VAR_006835 rs121912592
2 CPS1 p.His337Arg VAR_014077 rs28940283
3 CPS1 p.Val457Gly VAR_017562 rs371350538
4 CPS1 p.Gln810Arg VAR_017563
5 CPS1 p.Leu843Ser VAR_017564
6 CPS1 p.Arg850His VAR_030675 rs767694281
7 CPS1 p.Ser918Pro VAR_030676
8 CPS1 p.Gly79Glu VAR_063560
9 CPS1 p.Tyr212Asn VAR_063561
10 CPS1 p.Lys280Asn VAR_063562 rs753751183
11 CPS1 p.Ala438Pro VAR_063563
12 CPS1 p.Arg587His VAR_063564
13 CPS1 p.Gly593Arg VAR_063565 rs1048119191Carbamoyl
14 CPS1 p.Glu651Lys VAR_063566
15 CPS1 p.Asn674Ile VAR_063567
16 CPS1 p.Arg780His VAR_063568 rs758724746
17 CPS1 p.Arg850Cys VAR_063569 rs1015051007Carbamoyl
18 CPS1 p.Gly982Asp VAR_063570 rs121912595
19 CPS1 p.Gln1103Arg VAR_063571
20 CPS1 p.Val1141Gly VAR_063572
21 CPS1 p.His1195Pro VAR_063573
22 CPS1 p.Ile1215Val VAR_063574 rs141373204
23 CPS1 p.Asn1241Lys VAR_063575
24 CPS1 p.Ser123Phe VAR_064062
25 CPS1 p.Thr471Asn VAR_064063
26 CPS1 p.Gln678Pro VAR_064064
27 CPS1 p.Pro774Leu VAR_064065
28 CPS1 p.Pro1411Leu VAR_064066
29 CPS1 p.Arg1453Gln VAR_064067
30 CPS1 p.Arg1453Trp VAR_064068 rs933813349
31 CPS1 p.Tyr1491His VAR_064069
32 CPS1 p.Gly301Glu VAR_066104 rs973321068
33 CPS1 p.Tyr389Cys VAR_066105
34 CPS1 p.Leu390Arg VAR_066106
35 CPS1 p.Arg718Lys VAR_066107
36 CPS1 p.Arg721Gln VAR_066108 rs752339705
37 CPS1 p.Ala724Pro VAR_066109
38 CPS1 p.Ala726Thr VAR_066110
39 CPS1 p.Asp767Val VAR_066111
40 CPS1 p.Met792Ile VAR_066112
41 CPS1 p.Val978Glu VAR_066113
42 CPS1 p.Gly982Val VAR_066114 rs121912595
43 CPS1 p.Tyr984His VAR_066115
44 CPS1 p.Ile986Thr VAR_066116
45 CPS1 p.Gly987Cys VAR_066117
46 CPS1 p.Phe992Ser VAR_066118 rs990390709
47 CPS1 p.Asn1016Ser VAR_066119 rs749238466
48 CPS1 p.Pro1017Leu VAR_066120
49 CPS1 p.Thr1022Ile VAR_066121
50 CPS1 p.Glu1034Gly VAR_066122

ClinVar genetic disease variations for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to:

6
(show top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPS1 CPS1, 9-BP DEL deletion Pathogenic
2 CPS1 NM_001875.4(CPS1): c.1631C> T (p.Thr544Met) single nucleotide variant Pathogenic rs121912592 GRCh37 Chromosome 2, 211465360: 211465360
3 CPS1 NM_001875.4(CPS1): c.1631C> T (p.Thr544Met) single nucleotide variant Pathogenic rs121912592 GRCh38 Chromosome 2, 210600636: 210600636
4 CPS1 NM_001875.4(CPS1): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs121912593 GRCh37 Chromosome 2, 211438025: 211438025
5 CPS1 NM_001875.4(CPS1): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs121912593 GRCh38 Chromosome 2, 210573301: 210573301
6 CPS1 NM_001875.4(CPS1): c.1010A> G (p.His337Arg) single nucleotide variant Pathogenic rs28940283 GRCh37 Chromosome 2, 211456617: 211456617
7 CPS1 NM_001875.4(CPS1): c.1010A> G (p.His337Arg) single nucleotide variant Pathogenic rs28940283 GRCh38 Chromosome 2, 210591893: 210591893
8 CPS1 CPS1, 4.2-KB DEL deletion Pathogenic
9 CPS1 NM_001875.4(CPS1): c.2945G> A (p.Gly982Asp) single nucleotide variant Pathogenic rs121912595 GRCh37 Chromosome 2, 211504769: 211504769
10 CPS1 NM_001875.4(CPS1): c.2945G> A (p.Gly982Asp) single nucleotide variant Pathogenic rs121912595 GRCh38 Chromosome 2, 210640045: 210640045
11 CPS1 CPS1, 1-BP DEL, 1528G deletion Pathogenic
12 CPS1 NM_001875.4(CPS1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs121912596 GRCh37 Chromosome 2, 211473251: 211473251
13 CPS1 NM_001875.4(CPS1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs121912596 GRCh38 Chromosome 2, 210608527: 210608527
14 CPS1 CPS1, IVS29DS, G-C, +1 single nucleotide variant Pathogenic
15 CPS1 CPS1, IVS34DS, T-C, +2 single nucleotide variant Pathogenic
16 CPS1 NM_001875.4(CPS1): c.3037_3039delGTG (p.Val1013del) deletion Pathogenic rs727502824 GRCh38 Chromosome 2, 210642561: 210642563
17 CPS1 NM_001875.4(CPS1): c.3037_3039delGTG (p.Val1013del) deletion Pathogenic rs727502824 GRCh37 Chromosome 2, 211507285: 211507287
18 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh37 Chromosome 2, 211540542: 211540542
19 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh38 Chromosome 2, 210675818: 210675818
20 CPS1 NM_001875.4(CPS1): c.-4_-3insTTC insertion Benign rs61509952 GRCh37 Chromosome 2, 211421454: 211421455
21 CPS1 NM_001875.4(CPS1): c.-4_-3insTTC insertion Benign rs61509952 GRCh38 Chromosome 2, 210556730: 210556731
22 CPS1 NM_001875.4(CPS1): c.486T> C (p.Tyr162=) single nucleotide variant Conflicting interpretations of pathogenicity rs138779023 GRCh38 Chromosome 2, 210579728: 210579728
23 CPS1 NM_001875.4(CPS1): c.486T> C (p.Tyr162=) single nucleotide variant Conflicting interpretations of pathogenicity rs138779023 GRCh37 Chromosome 2, 211444452: 211444452
24 CPS1 NM_001875.4(CPS1): c.4275-10A> G single nucleotide variant Benign/Likely benign rs41272673 GRCh37 Chromosome 2, 211541721: 211541721
25 CPS1 NM_001875.4(CPS1): c.4275-10A> G single nucleotide variant Benign/Likely benign rs41272673 GRCh38 Chromosome 2, 210676997: 210676997
26 CPS1 NM_001875.4(CPS1): c.3626T> C (p.Met1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200569046 GRCh37 Chromosome 2, 211521316: 211521316
27 CPS1 NM_001875.4(CPS1): c.3626T> C (p.Met1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200569046 GRCh38 Chromosome 2, 210656592: 210656592
28 CPS1 NM_001875.4(CPS1): c.3355G> A (p.Ala1119Thr) single nucleotide variant Benign/Likely benign rs76340296 GRCh37 Chromosome 2, 211513215: 211513215
29 CPS1 NM_001875.4(CPS1): c.3355G> A (p.Ala1119Thr) single nucleotide variant Benign/Likely benign rs76340296 GRCh38 Chromosome 2, 210648491: 210648491
30 CPS1 NM_001875.4(CPS1): c.3643A> G (p.Ile1215Val) single nucleotide variant Uncertain significance rs141373204 GRCh37 Chromosome 2, 211521333: 211521333
31 CPS1 NM_001875.4(CPS1): c.3643A> G (p.Ile1215Val) single nucleotide variant Uncertain significance rs141373204 GRCh38 Chromosome 2, 210656609: 210656609
32 CPS1 NM_001875.4(CPS1): c.2265C> A (p.Ser755=) single nucleotide variant Benign/Likely benign rs41272667 GRCh37 Chromosome 2, 211473157: 211473157
33 CPS1 NM_001875.4(CPS1): c.2265C> A (p.Ser755=) single nucleotide variant Benign/Likely benign rs41272667 GRCh38 Chromosome 2, 210608433: 210608433
34 CPS1 NM_001875.4(CPS1): c.3481-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41272669 GRCh38 Chromosome 2, 210654017: 210654017
35 CPS1 NM_001875.4(CPS1): c.3481-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41272669 GRCh37 Chromosome 2, 211518741: 211518741
36 CPS1 NM_001875.4(CPS1): c.3928-8delT deletion Likely benign rs397703682 GRCh37 Chromosome 2, 211527839: 211527839
37 CPS1 NM_001875.4(CPS1): c.3928-8delT deletion Likely benign rs397703682 GRCh38 Chromosome 2, 210663115: 210663115
38 CPS1 NM_001875.4(CPS1): c.4126G> A (p.Gly1376Ser) single nucleotide variant Benign rs140578009 GRCh37 Chromosome 2, 211539650: 211539650
39 CPS1 NM_001875.4(CPS1): c.4126G> A (p.Gly1376Ser) single nucleotide variant Benign rs140578009 GRCh38 Chromosome 2, 210674926: 210674926
40 CPS1 NM_001875.4(CPS1): c.1030A> T (p.Thr344Ser) single nucleotide variant Benign/Likely benign rs1047883 GRCh37 Chromosome 2, 211456637: 211456637
41 CPS1 NM_001875.4(CPS1): c.1030A> T (p.Thr344Ser) single nucleotide variant Benign/Likely benign rs1047883 GRCh38 Chromosome 2, 210591913: 210591913
42 CPS1 NM_001875.4(CPS1): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs200214298 GRCh37 Chromosome 2, 211444453: 211444453
43 CPS1 NM_001875.4(CPS1): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs200214298 GRCh38 Chromosome 2, 210579729: 210579729
44 CPS1 NM_001875.4(CPS1): c.-29T> G single nucleotide variant Conflicting interpretations of pathogenicity rs147937942 GRCh37 Chromosome 2, 211421429: 211421429
45 CPS1 NM_001875.4(CPS1): c.-29T> G single nucleotide variant Conflicting interpretations of pathogenicity rs147937942 GRCh38 Chromosome 2, 210556705: 210556705
46 CPS1 NM_001875.4(CPS1): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs150314086 GRCh37 Chromosome 2, 211421462: 211421462
47 CPS1 NM_001875.4(CPS1): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs150314086 GRCh38 Chromosome 2, 210556738: 210556738
48 CPS1 NM_001875.4(CPS1): c.945C> G (p.Asn315Lys) single nucleotide variant Uncertain significance rs761974037 GRCh38 Chromosome 2, 210590904: 210590904
49 CPS1 NM_001875.4(CPS1): c.945C> G (p.Asn315Lys) single nucleotide variant Uncertain significance rs761974037 GRCh37 Chromosome 2, 211455628: 211455628
50 CPS1 NM_001875.4(CPS1): c.1021T> G (p.Leu341Val) single nucleotide variant Uncertain significance rs138424013 GRCh38 Chromosome 2, 210591904: 210591904

Expression for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Search GEO for disease gene expression data for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to.

Pathways for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Pathways related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to according to KEGG:

37
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
2 Alanine, aspartate and glutamate metabolism hsa00250
3 Nitrogen metabolism hsa00910

Pathways related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ASS1 CPS1 HMOX2 NAGS OTC
2
Show member pathways
13.11 ASS1 CPS1 NAGS OTC
3
Show member pathways
11.78 ASS1 CPS1 NAGS OTC
4 11.39 ASS1 CPS1 OTC
5 10.87 ASS1 CPS1
6
Show member pathways
10.67 ASS1 CPS1 NAGS OTC
7
Show member pathways
10.3 ASS1 CPS1 NAGS OTC

GO Terms for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

Cellular components related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ASS1 CPS1 NAGS OTC
2 mitochondrial matrix GO:0005759 8.8 CPS1 NAGS OTC

Biological processes related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.69 ASS1 CPS1 OTC
2 liver development GO:0001889 9.63 ASS1 CPS1 OTC
3 response to lipopolysaccharide GO:0032496 9.59 ASS1 CPS1
4 response to toxic substance GO:0009636 9.58 ASS1 CPS1
5 response to glucocorticoid GO:0051384 9.58 ASS1 CPS1
6 cellular response to cAMP GO:0071320 9.57 ASS1 CPS1
7 cellular amino acid biosynthetic process GO:0008652 9.56 ASS1 OTC
8 cellular response to glucagon stimulus GO:0071377 9.55 ASS1 CPS1
9 response to amino acid GO:0043200 9.54 ASS1 CPS1
10 response to steroid hormone GO:0048545 9.52 ASS1 CPS1
11 response to growth hormone GO:0060416 9.49 ASS1 CPS1
12 response to amine GO:0014075 9.48 ASS1 CPS1
13 citrulline biosynthetic process GO:0019240 9.43 CPS1 OTC
14 response to zinc ion GO:0010043 9.43 ASS1 CPS1 OTC
15 primary metabolic process GO:0044238 9.4 CPS1 OTC
16 cellular response to oleic acid GO:0071400 9.37 ASS1 CPS1
17 midgut development GO:0007494 9.33 ASS1 CPS1 OTC
18 anion homeostasis GO:0055081 9.32 CPS1 OTC
19 urea cycle GO:0000050 9.26 ASS1 CPS1 NAGS OTC
20 arginine biosynthetic process GO:0006526 8.92 ASS1 CPS1 NAGS OTC

Molecular functions related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.16 ASS1 CPS1
2 phospholipid binding GO:0005543 8.96 CPS1 OTC
3 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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