CPS1D
MCID: CRB186
MIFTS: 52

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to (CPS1D)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 58
Carbamoyl Phosphate Synthetase I Deficiency 58 26 76 38
Carbamoyl Phosphate Synthetase I Deficiency Disease 12 15 17
Carbamoyl-Phosphate Synthase I Deficiency Disease 26 45 74
Congenital Hyperammonemia, Type I 26 30 6
Cps I Deficiency 58 12 76
Carbamoyl Phosphate Synthetase 1 Deficiency 54 76
Carbamoylphosphate Synthetase I Deficiency 58 13
Cps1d 60 76
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 54
Hyperammonemia Due to Carbamoyl Phosphate Synthetase I Deficiency 76
Carbamyl-Phosphate Synthetase I Deficiency Disease 26
Carbamoyl-Phosphate Synthetase 1 Deficiency 60
Carbamoyl-Phosphate Synthetase I Deficiency 60
Deficiency, Carbamoylphosphate Synthetase I 41
Carbamyl Phosphate Synthetase Deficiency 54
Carbamoyl-Phosphate Synthetase Deficiency 60
Carbamoyl Phosphate Synthetase Deficiency 56
Cps 1 Deficiency 54
Cps1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


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

OMIM : 58 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 carbamide peroxide and Acetohydroxamic acid have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are seizures and muscular hypotonia

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

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

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

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...

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

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
4 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
5 hyperammonemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001987
6 episodic ammonia intoxication 60 33 hallmark (90%) Very frequent (99-80%) HP:0001951
7 hypoargininemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005961
8 stroke 33 occasional (7.5%) HP:0001297
9 intellectual disability 33 HP:0001249
10 ataxia 33 HP:0001251
11 failure to thrive 33 HP:0001508
12 global developmental delay 33 HP:0001263
13 vomiting 33 HP:0002013
14 irritability 33 HP:0000737
15 coma 33 HP:0001259
16 lethargy 33 HP:0001254
17 protein avoidance 33 HP:0002038
18 respiratory alkalosis 33 HP:0001950
19 low plasma citrulline 33 HP:0003572
20 cerebral edema 33 HP:0002181

Symptoms via clinical synopsis from OMIM:

58
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 citrulline
low plasma arginine
low urinary orotic acid
hepatic carbamoylphosphate synthetase i deficiency

Clinical features from OMIM:

237300

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.55 ASS1 CPS1 HMOX2 NAGS OTC
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
carbamide peroxide Approved Phase 2,Phase 1 124-43-6
2
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
3
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
4
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
5 Liver Extracts Phase 2,Phase 1
6 Hematinics Phase 2
7 arginine Not Applicable
8 Vaccines

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 Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
4 Manipulating the Gut Microbiome Study Terminated 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 30 CPS1

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

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

42
Brain, Liver

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

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

(show all 15)
# Title Authors Year
1
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. ( 28526534 )
2017
2
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. ( 28658158 )
2017
3
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. ( 25410056 )
2014
4
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency. ( 19309799 )
2009
5
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? ( 19793055 )
2009
6
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. ( 17310273 )
2007
7
[Carbamoyl phosphate synthetase I deficiency]. ( 12013996 )
2002
8
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. ( 11474210 )
2001
9
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. ( 11536261 )
2001
10
[Carbamoyl phosphate synthetase I deficiency]. ( 11462458 )
2001
11
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]. ( 12080609 )
2001
12
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. ( 9711878 )
1998
13
Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency. ( 9323570 )
1997
14
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. ( 8273985 )
1994
15
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. ( 8486760 )
1993

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

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

76 (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 rs772497399
12 CPS1 p.Arg587His VAR_063564
13 CPS1 p.Gly593Arg VAR_063565 rs104811919
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 rs101505100
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 rs120230677
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 rs143765165
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 387)
# 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 NM_001875.4(CPS1): c.3558+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 2, 211518827: 211518827
15 CPS1 NM_001875.4(CPS1): c.3558+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 2, 210654103: 210654103
16 CPS1 NM_001875.4(CPS1): c.4102-563G> A single nucleotide variant Likely benign rs207462825 GRCh37 Chromosome 2, 211539063: 211539063
17 CPS1 NM_001875.4(CPS1): c.4102-563G> A single nucleotide variant Likely benign rs207462825 GRCh38 Chromosome 2, 210674339: 210674339
18 CPS1 NM_001875.4(CPS1): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign rs1047883 GRCh37 Chromosome 2, 211456637: 211456637
19 CPS1 NM_001875.4(CPS1): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign rs1047883 GRCh38 Chromosome 2, 210591913: 210591913
20 CPS1 NM_001875.4(CPS1): c.1032C> T (p.Thr344=) single nucleotide variant Benign rs2229589 GRCh37 Chromosome 2, 211456639: 211456639
21 CPS1 NM_001875.4(CPS1): c.1032C> T (p.Thr344=) single nucleotide variant Benign rs2229589 GRCh38 Chromosome 2, 210591915: 210591915
22 CPS1 NM_001875.4(CPS1): c.2679C> G (p.Gly893=) single nucleotide variant Benign rs2287599 GRCh37 Chromosome 2, 211481257: 211481257
23 CPS1 NM_001875.4(CPS1): c.2679C> G (p.Gly893=) single nucleotide variant Benign rs2287599 GRCh38 Chromosome 2, 210616533: 210616533
24 CPS1 NM_001875.4(CPS1): c.4217C> A (p.Thr1406Asn) single nucleotide variant Benign rs1047891 GRCh37 Chromosome 2, 211540507: 211540507
25 CPS1 NM_001875.4(CPS1): c.4217C> A (p.Thr1406Asn) single nucleotide variant Benign rs1047891 GRCh38 Chromosome 2, 210675783: 210675783
26 CPS1 NM_001875.4(CPS1): c.937A> G (p.Met313Val) single nucleotide variant Uncertain significance rs587780323 GRCh37 Chromosome 2, 211455620: 211455620
27 CPS1 NM_001875.4(CPS1): c.937A> G (p.Met313Val) single nucleotide variant Uncertain significance rs587780323 GRCh38 Chromosome 2, 210590896: 210590896
28 CPS1 NM_001875.4(CPS1): c.2193-15G> T single nucleotide variant Benign rs2287600 GRCh37 Chromosome 2, 211473070: 211473070
29 CPS1 NM_001875.4(CPS1): c.2193-15G> T single nucleotide variant Benign rs2287600 GRCh38 Chromosome 2, 210608346: 210608346
30 CPS1 NM_001875.4(CPS1): c.2448C> T (p.Cys816=) single nucleotide variant Benign/Likely benign rs75395645 GRCh37 Chromosome 2, 211476897: 211476897
31 CPS1 NM_001875.4(CPS1): c.2448C> T (p.Cys816=) single nucleotide variant Benign/Likely benign rs75395645 GRCh38 Chromosome 2, 210612173: 210612173
32 CPS1 NM_001875.4(CPS1): c.2830-18A> G single nucleotide variant Benign rs116664530 GRCh37 Chromosome 2, 211503856: 211503856
33 CPS1 NM_001875.4(CPS1): c.2830-18A> G single nucleotide variant Benign rs116664530 GRCh38 Chromosome 2, 210639132: 210639132
34 CPS1 NM_001875.4(CPS1): c.-78956G> A single nucleotide variant Benign rs17552879 GRCh37 Chromosome 2, 211342502: 211342502
35 CPS1 NM_001875.4(CPS1): c.-78956G> A single nucleotide variant Benign rs17552879 GRCh38 Chromosome 2, 210477778: 210477778
36 CPS1 NM_001875.4(CPS1): c.3037_3039delGTG (p.Val1013del) deletion Pathogenic rs727502824 GRCh38 Chromosome 2, 210642561: 210642563
37 CPS1 NM_001875.4(CPS1): c.3037_3039delGTG (p.Val1013del) deletion Pathogenic rs727502824 GRCh37 Chromosome 2, 211507285: 211507287
38 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh37 Chromosome 2, 211540542: 211540542
39 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh38 Chromosome 2, 210675818: 210675818
40 CPS1 NM_001875.4(CPS1): c.-4_-3insTTC insertion Benign rs61509952 GRCh37 Chromosome 2, 211421454: 211421455
41 CPS1 NM_001875.4(CPS1): c.-4_-3insTTC insertion Benign rs61509952 GRCh38 Chromosome 2, 210556730: 210556731
42 CPS1 NM_001875.4(CPS1): c.167T> G (p.Met56Arg) single nucleotide variant Uncertain significance rs778958318 GRCh37 Chromosome 2, 211438062: 211438062
43 CPS1 NM_001875.4(CPS1): c.167T> G (p.Met56Arg) single nucleotide variant Uncertain significance rs778958318 GRCh38 Chromosome 2, 210573338: 210573338
44 CPS1 NM_001875.4(CPS1): c.486T> C (p.Tyr162=) single nucleotide variant Conflicting interpretations of pathogenicity rs138779023 GRCh38 Chromosome 2, 210579728: 210579728
45 CPS1 NM_001875.4(CPS1): c.486T> C (p.Tyr162=) single nucleotide variant Conflicting interpretations of pathogenicity rs138779023 GRCh37 Chromosome 2, 211444452: 211444452
46 CPS1 NM_001875.4(CPS1): c.4275-10A> G single nucleotide variant Benign/Likely benign rs41272673 GRCh37 Chromosome 2, 211541721: 211541721
47 CPS1 NM_001875.4(CPS1): c.4275-10A> G single nucleotide variant Benign/Likely benign rs41272673 GRCh38 Chromosome 2, 210676997: 210676997
48 CPS1 NM_001875.4(CPS1): c.3626T> C (p.Met1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200569046 GRCh37 Chromosome 2, 211521316: 211521316
49 CPS1 NM_001875.4(CPS1): c.3626T> C (p.Met1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200569046 GRCh38 Chromosome 2, 210656592: 210656592
50 CPS1 NM_001875.4(CPS1): c.3355G> A (p.Ala1119Thr) single nucleotide variant Benign/Likely benign rs76340296 GRCh37 Chromosome 2, 211513215: 211513215

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:

38
# 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
13.41 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 10.88 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 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.7 ASS1 CPS1 OTC
2 liver development GO:0001889 9.61 ASS1 CPS1 OTC
3 response to lipopolysaccharide GO:0032496 9.58 ASS1 CPS1
4 response to toxic substance GO:0009636 9.58 ASS1 CPS1
5 response to glucocorticoid GO:0051384 9.57 ASS1 CPS1
6 cellular response to cAMP GO:0071320 9.56 ASS1 CPS1
7 cellular amino acid biosynthetic process GO:0008652 9.55 ASS1 OTC
8 response to amino acid GO:0043200 9.54 ASS1 CPS1
9 response to steroid hormone GO:0048545 9.51 ASS1 CPS1
10 cellular response to glucagon stimulus GO:0071377 9.49 ASS1 CPS1
11 response to growth hormone GO:0060416 9.48 ASS1 CPS1
12 response to amine GO:0014075 9.46 ASS1 CPS1
13 response to zinc ion GO:0010043 9.43 ASS1 CPS1 OTC
14 citrulline biosynthetic process GO:0019240 9.4 CPS1 OTC
15 cellular response to oleic acid GO:0071400 9.37 ASS1 CPS1
16 midgut development GO:0007494 9.33 ASS1 CPS1 OTC
17 anion homeostasis GO:0055081 9.32 CPS1 OTC
18 urea cycle GO:0000050 9.26 ASS1 CPS1 NAGS OTC
19 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 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
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