CPS1D
MCID: CRB186
MIFTS: 51

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

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory 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 74 37
Carbamoyl Phosphate Synthetase I Deficiency Disease 12 15 17
Carbamoyl-Phosphate Synthase I Deficiency Disease 25 44 72
Congenital Hyperammonemia, Type I 25 29 6
Cps I Deficiency 57 12 74
Carbamoyl Phosphate Synthetase 1 Deficiency 53 74
Carbamoylphosphate Synthetase I Deficiency 57 13
Cps1d 59 74
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 53
Hyperammonemia Due to Carbamoyl Phosphate Synthetase I Deficiency 74
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


External Ids:

Disease Ontology 12 DOID:9280
OMIM 57 237300
KEGG 37 H00164
MeSH 44 D020165
NCIt 50 C84612
ICD10 via Orphanet 34 E72.2
UMLS via Orphanet 73 C0751753
Orphanet 59 ORPHA147
UMLS 72 C0751753

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

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. In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual disability. In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.

MalaCards based summary : Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to, also known as carbamoyl phosphate synthetase i deficiency, is related to ornithine transcarbamylase deficiency, hyperammonemia due to and argininosuccinic aciduria. 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 Glutamic acid and Hematinics 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.

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.

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)

KEGG : 37
Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia.

UniProtKB/Swiss-Prot : 74 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...

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ornithine transcarbamylase deficiency, hyperammonemia due to 31.5 OTC NAGS CPS1 ASS1
2 argininosuccinic aciduria 31.4 OTC NAGS ASS1
3 argininemia 31.0 OTC NAGS CPS1 ASS1
4 reye syndrome 29.8 OTC ASS1
5 carbonic anhydrase va deficiency, hyperammonemia due to 29.4 OTC NAGS CPS1 ASS1
6 urea cycle disorder 28.9 OTC NAGS CPS1 ASS1
7 nutritional deficiency disease 11.8
8 autosomal recessive disease 10.4
9 ocular motor apraxia 10.4
10 abdominal obesity-metabolic syndrome 1 10.4
11 organic acidemia 10.2
12 leukodystrophy 10.2
13 respiratory failure 10.2
14 encephalopathy 10.2
15 3-methylglutaconic aciduria 10.2
16 premenstrual tension 10.2
17 learning disability 10.2
18 cerebral atrophy 10.2
19 fibrosis of extraocular muscles, congenital, 1 10.2
20 cystic fibrosis 10.2
21 stroke, ischemic 10.2
22 exanthem 10.2
23 cerebrovascular disease 10.2
24 48,xyyy 10.2
25 hypotonia 10.2
26 n-acetylglutamate synthase deficiency 10.0
27 alacrima, achalasia, and mental retardation syndrome 10.0
28 hematopoietic stem cell transplantation 10.0
29 retinitis pigmentosa 11 9.9
30 metatarsus adductus 9.9
31 postpartum psychosis 9.8 OTC ASS1
32 orotic aciduria 9.5 OTC ASS1
33 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.5 OTC NAGS CPS1
34 citrullinemia, classic 9.4 OTC NAGS ASS1
35 propionic acidemia 9.3 OTC NAGS ASS1

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:

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

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 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ASS1 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
2 Hematinics Phase 2
3
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
4 Liver Extracts Phase 1
5 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
2 Open, Prospective, Uncontrolled, Multicentre Study to Evaluate The Safety and Efficacy of Multiple Applications of Liver Cell Suspension Into The Portal Vein in Children With Urea Cycle Disorders (UCDs) Completed NCT00718627 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 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
5 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
6 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367
7 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:

(show all 42)
# Title Authors PMID Year
1
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. 38 8 71
9711878 1998
2
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? 8 71
19793055 2009
3
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 8 71
17310273 2007
4
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. 8 71
8486760 1993
5
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. 38 71
11474210 2001
6
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. 38 8
8273985 1994
7
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. 71
25410056 2014
8
A longitudinal study of urea cycle disorders. 8
25135652 2014
9
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. 8
21120950 2011
10
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 8
20142522 2010
11
Urea Cycle Disorders Overview 71
20301396 2003
12
Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. 8
1414247 1992
13
Estimated frequency of urea cycle enzymopathies in Japan. 8
2063931 1991
14
Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity. 8
3792387 1986
15
Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl. 8
3759432 1986
16
Mammalian urea cycle enzymes. 8
3545062 1986
17
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. 8
6427608 1984
18
A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase. 8
6851228 1983
19
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. 8
7078580 1982
20
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. 8
7246541 1981
21
Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency. 8
7234771 1981
22
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms. 8
197778 1977
23
Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. 8
165404 1975
24
Lethal neonatal deficiency of carbamyl phosphate synthetase. 8
4811018 1974
25
Neuropathological observations in a patient with carbamylphosphate-synthetase deficiency and in two sibs. 8
4111816 1972
26
Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. 8
5471650 1970
27
Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage. 8
5356974 1969
28
[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency]. 38
30512161 2018
29
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. 38
28888854 2017
30
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. 38
28526534 2017
31
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. 38
28658158 2017
32
Citrulline for urea cycle disorders in Japan. 38
27613354 2017
33
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. 9
20004862 2010
34
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency. 38
19309799 2009
35
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. 9
15863597 2005
36
[Carbamoyl phosphate synthetase I deficiency]. 38
12013996 2002
37
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]. 38
12080609 2001
38
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. 38
11536261 2001
39
[Carbamoyl phosphate synthetase I deficiency]. 38
11462458 2001
40
Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency. 38
9323570 1997
41
Prospective treatment of urea cycle disorders. 9
1720458 1991
42
Alteration of urinary carnitine profile induced by benzoate administration. 9
1863104 1991

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

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

6 (show top 50) (show all 211)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPS1 NM_001875.5(CPS1): c.3980G> A (p.Cys1327Tyr) single nucleotide variant Pathogenic rs1553518389 2:211527899-211527899 2:210663175-210663175
2 CPS1 NM_001875.5(CPS1): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs759201450 2:211469901-211469901 2:210605177-210605177
3 CPS1 NM_001875.5(CPS1): c.3784C> T (p.Arg1262Ter) single nucleotide variant Pathogenic rs1414143303 2:211525236-211525236 2:210660512-210660512
4 CPS1 NM_001875.5(CPS1): c.1529del (p.Gly510fs) deletion Pathogenic rs764384490 2:211464263-211464264 2:210599541-210599541
5 CPS1 CPS1, 9-BP DEL deletion Pathogenic
6 CPS1 NM_001875.5(CPS1): c.1631C> T (p.Thr544Met) single nucleotide variant Pathogenic rs121912592 2:211465360-211465360 2:210600636-210600636
7 CPS1 NM_001875.5(CPS1): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs121912593 2:211438025-211438025 2:210573301-210573301
8 CPS1 NM_001875.5(CPS1): c.1010A> G (p.His337Arg) single nucleotide variant Pathogenic rs28940283 2:211456617-211456617 2:210591893-210591893
9 CPS1 CPS1, 4.2-KB DEL deletion Pathogenic
10 CPS1 NM_001875.5(CPS1): c.2945G> A (p.Gly982Asp) single nucleotide variant Pathogenic rs121912595 2:211504769-211504769 2:210640045-210640045
11 CPS1 CPS1, 1-BP DEL, 1528G deletion Pathogenic
12 CPS1 NM_001875.5(CPS1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs121912596 2:211473251-211473251 2:210608527-210608527
13 CPS1 NM_001875.5(CPS1): c.3558+1G> C single nucleotide variant Pathogenic 2:211518827-211518827 2:210654103-210654103
14 CPS1 NM_001875.5(CPS1): c.3031_3033GTG[2] (p.Val1013del) short repeat Pathogenic rs727502824 2:211507285-211507287 2:210642561-210642563
15 CPS1 NM_001875.5(CPS1): c.2549G> A (p.Arg850His) single nucleotide variant Pathogenic 2:211476998-211476998 2:210612274-210612274
16 CPS1 NM_001875.5(CPS1): c.2596G> T (p.Glu866Ter) single nucleotide variant Pathogenic 2:211481174-211481174 2:210616450-210616450
17 CPS1 NM_001875.5(CPS1): c.2161C> T (p.Arg721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202107577 2:211471634-211471634 2:210606910-210606910
18 CPS1 NM_001875.5(CPS1): c.1926del (p.Asp642fs) deletion Pathogenic/Likely pathogenic rs1326644714 2:211469915-211469915 2:210605191-210605191
19 CPS1 NM_001875.5(CPS1): c.209_216dup (p.Phe73fs) duplication Likely pathogenic rs1553509010 2:211438104-211438111 2:210573380-210573387
20 CPS1 NM_001875.5(CPS1): c.2883_2895del (p.Tyr962fs) deletion Likely pathogenic rs1375304341 2:211503927-211503939 2:210639203-210639215
21 CPS1 NM_001875.5(CPS1): c.2227del (p.Ala742_Leu743insTer) deletion Likely pathogenic rs781088670 2:211473116-211473117 2:210608395-210608395
22 CPS1 NM_001875.5(CPS1): c.2392-1G> T single nucleotide variant Likely pathogenic rs755882799 2:211476840-211476840 2:210612116-210612116
23 CPS1 NM_001875.5(CPS1): c.3185del (p.Asn1062fs) deletion Likely pathogenic rs1553517122 2:211512627-211512628 2:210647906-210647906
24 CPS1 NM_001875.5(CPS1): c.1775dup (p.Gly594fs) duplication Likely pathogenic rs1341782266 2:211466992-211466992 2:210602269-210602269
25 CPS1 NM_001875.5(CPS1): c.594_595del (p.Asn199fs) deletion Likely pathogenic rs1553509924 2:211447404-211447406 2:210582682-210582683
26 CPS1 NM_001875.5(CPS1): c.763G> T (p.Glu255Ter) single nucleotide variant Likely pathogenic rs756021170 2:211454881-211454881 2:210590157-210590157
27 CPS1 NM_001875.5(CPS1): c.1086+1G> A single nucleotide variant Likely pathogenic rs1553511326 2:211456694-211456694 2:210591970-210591970
28 CPS1 NM_001875.5(CPS1): c.3375del (p.Cys1126fs) deletion Likely pathogenic rs1553517224 2:211513231-211513232 2:210648511-210648511
29 CPS1 NM_001875.5(CPS1): c.798del (p.Asn267fs) deletion Likely pathogenic rs1553510944 2:211454912-211454913 2:210590192-210590192
30 CPS1 NM_001875.5(CPS1): c.4003-1G> C single nucleotide variant Likely pathogenic rs1553518720 2:211532909-211532909 2:210668185-210668185
31 CPS1 NM_001875.5(CPS1): c.4101+2T> C single nucleotide variant Likely pathogenic rs767575696 2:211533010-211533010 2:210668286-210668286
32 CPS1 NM_001875.5(CPS1): c.3559-2A> G single nucleotide variant Likely pathogenic rs766584384 2:211521247-211521247 2:210656523-210656523
33 CPS1 NM_001875.5(CPS1): c.4002+2T> A single nucleotide variant Likely pathogenic rs1553518395 2:211527923-211527923 2:210663199-210663199
34 CPS1 NM_001875.5(CPS1): c.4003-2A> T single nucleotide variant Likely pathogenic rs1553518719 2:211532908-211532908 2:210668184-210668184
35 CPS1 NM_001875.5(CPS1): c.711+1G> C single nucleotide variant Likely pathogenic rs1553510520 2:211452872-211452872 2:210588148-210588148
36 CPS1 NM_001875.5(CPS1): c.126+1G> A single nucleotide variant Likely pathogenic rs1553507183 2:211421584-211421584 2:210556860-210556860
37 CPS1 NM_001875.5(CPS1): c.25A> T (p.Lys9Ter) single nucleotide variant Likely pathogenic rs1553507167 2:211421482-211421482 2:210556758-210556758
38 CPS1 NM_001875.5(CPS1): c.1312G> C (p.Ala438Pro) single nucleotide variant Likely pathogenic rs772497399 2:211460259-211460259 2:210595535-210595535
39 CPS1 NM_001875.5(CPS1): c.2429A> G (p.Gln810Arg) single nucleotide variant Likely pathogenic rs1553513864 2:211476878-211476878 2:210612154-210612154
40 CPS1 NM_001875.5(CPS1): c.2391+1G> A single nucleotide variant Likely pathogenic rs1553513433 2:211473284-211473284 2:210608560-210608560
41 CPS1 NM_001875.5(CPS1): c.4056del (p.Thr1353fs) deletion Likely pathogenic rs1553518726 2:211532961-211532962 2:210668239-210668239
42 CPS1 NM_001875.5(CPS1): c.1323dup (p.Asp442Ter) duplication Likely pathogenic rs1553511789 2:211460267-211460267 2:210595546-210595546
43 CPS1 NM_001875.5(CPS1): c.1263+5G> C single nucleotide variant Likely pathogenic rs1275489342 2:211459335-211459335 2:210594611-210594611
44 CPS1 NM_001875.5(CPS1): c.1187C> A (p.Ser396Ter) single nucleotide variant Likely pathogenic rs961015305 2:211459254-211459254 2:210594530-210594530
45 CPS1 NM_001875.5(CPS1): c.712C> T (p.Arg238Ter) single nucleotide variant Likely pathogenic rs761225695 2:211454830-211454830 2:210590106-210590106
46 CPS1 NM_001875.5(CPS1): c.301del (p.Ile101fs) deletion Likely pathogenic rs1553509303 2:211441133-211441134 2:210576410-210576410
47 CPS1 NM_001875.5(CPS1): c.3G> T (p.Met1Ile) single nucleotide variant Likely pathogenic rs1553507155 2:211421460-211421460 2:210556736-210556736
48 CPS1 NM_001875.4(CPS1): c.3558_3558+1dup duplication Likely pathogenic rs1553517670 2:211518824-211518824 2:210654102-210654103
49 CPS1 NM_001875.5(CPS1): c.3141+1G> A single nucleotide variant Likely pathogenic rs1553516660 2:211507390-211507390 2:210642666-210642666
50 CPS1 NM_001875.5(CPS1): c.1760G> A (p.Arg587His) single nucleotide variant Likely pathogenic rs1553512642 2:211466978-211466978 2:210602254-210602254

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

74 (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 rs155351386
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 rs155351264
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 rs155351951
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 rs155351342
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 rs155351644
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

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
13.41 OTC NAGS HMOX2 CPS1 ASS1
2
Show member pathways
11.78 OTC NAGS CPS1 ASS1
3 11.39 OTC CPS1 ASS1
4 10.88 CPS1 ASS1
5
Show member pathways
10.67 OTC NAGS CPS1 ASS1
6
Show member pathways
10.3 OTC NAGS CPS1 ASS1

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 OTC NAGS CPS1 ASS1
2 mitochondrial matrix GO:0005759 8.8 OTC NAGS CPS1

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 9.71 OTC CPS1 ASS1
2 liver development GO:0001889 9.61 OTC CPS1 ASS1
3 response to lipopolysaccharide GO:0032496 9.58 CPS1 ASS1
4 response to toxic substance GO:0009636 9.58 CPS1 ASS1
5 response to glucocorticoid GO:0051384 9.57 CPS1 ASS1
6 cellular response to cAMP GO:0071320 9.56 CPS1 ASS1
7 cellular amino acid biosynthetic process GO:0008652 9.55 OTC ASS1
8 response to amino acid GO:0043200 9.52 CPS1 ASS1
9 response to steroid hormone GO:0048545 9.51 CPS1 ASS1
10 cellular response to glucagon stimulus GO:0071377 9.49 CPS1 ASS1
11 response to growth hormone GO:0060416 9.48 CPS1 ASS1
12 response to amine GO:0014075 9.46 CPS1 ASS1
13 response to zinc ion GO:0010043 9.43 OTC CPS1 ASS1
14 citrulline biosynthetic process GO:0019240 9.4 OTC CPS1
15 cellular response to oleic acid GO:0071400 9.37 CPS1 ASS1
16 midgut development GO:0007494 9.33 OTC CPS1 ASS1
17 anion homeostasis GO:0055081 9.32 OTC CPS1
18 urea cycle GO:0000050 9.26 OTC NAGS CPS1 ASS1
19 arginine biosynthetic process GO:0006526 8.92 OTC NAGS CPS1 ASS1

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 CPS1 ASS1
2 phospholipid binding GO:0005543 8.96 OTC CPS1
3 amino acid binding GO:0016597 8.62 OTC ASS1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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