UCD
MCID: URC002
MIFTS: 51

Urea Cycle Disorder (UCD)

Categories: Blood diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Urea Cycle Disorder

MalaCards integrated aliases for Urea Cycle Disorder:

Name: Urea Cycle Disorder 12 15 37
Urea Cycle Disorders, Inborn 43 71
Urea Cycle Disorders 24 52
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 12
Disorder of the Urea Cycle Metabolism 29
Disorder of Urea Cycle Metabolism 12
Urea Cycle Defect 12
Ucd 52

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD9CM 34 270.6
MeSH 43 D056806
NCIt 49 C84785
SNOMED-CT 67 36444000
ICD10 32 E72.2
UMLS 71 C0154246

Summaries for Urea Cycle Disorder

NIH Rare Diseases : 52 A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle . These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.

MalaCards based summary : Urea Cycle Disorder, also known as urea cycle disorders, inborn, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and argininosuccinic aciduria. An important gene associated with Urea Cycle Disorder is OTC (Ornithine Carbamoyltransferase), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs Heparin and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

Wikipedia : 74 The urea cycle (also known as the ornithine cycle) is a cycle of biochemical reactions that produces... more...

GeneReviews: NBK1217

Related Diseases for Urea Cycle Disorder

Diseases related to Urea Cycle Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 32.9 SLC25A15 OTC NAGS CPS1 ASS1 ASL
2 argininosuccinic aciduria 32.6 SLC7A7 SLC25A15 SLC25A13 OTC NAGS MMD
3 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 32.5 SLC25A2 SLC25A15 SLC25A13 OTC NAGS CPS1
4 ornithine transcarbamylase deficiency, hyperammonemia due to 32.2 SLC25A15 SLC25A13 OTC NAGS MMD CPS1
5 argininemia 31.5 SLC7A7 SLC25A15 SLC25A13 PRODH OTC NAGS
6 citrullinemia, classic 31.4 SLC7A7 SLC25A2 SLC25A15 SLC25A13 SLC25A12 OTC
7 carbonic anhydrase va deficiency, hyperammonemia due to 31.3 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
8 inherited metabolic disorder 31.1 PRODH NAGS MMD CRYAA
9 hepatic encephalopathy 30.6 SLC25A13 GLUL ASS1
10 postpartum psychosis 30.4 OTC ASS1
11 methylmalonic acidemia 30.4 PRODH OTC NAGS MMD CPS1
12 isovaleric acidemia 30.3 NAGS MMD CPS1
13 brain edema 30.2 SLC25A13 OTC GLUL
14 lysinuric protein intolerance 30.2 SLC7A7 PRODH OTC NAGS ASS1 ASL
15 reye syndrome 30.2 PRODH OTC GLUL ASS1
16 maple syrup urine disease 30.2 PRODH OTC NAGS MMD ASL
17 organic acidemia 30.1 PRODH NAGS MMD HLCS
18 propionic acidemia 30.1 OTC NAGS MMD HLCS CPS1 ASS1
19 phenylketonuria 30.1 PRODH OTC ASS1
20 homocystinuria 30.0 OTC MMD CRYAA
21 orotic aciduria 29.6 SLC7A7 PRODH OTC NAGS CPS1 ASS1
22 citrullinemia, type ii, adult-onset 29.6 SLC25A2 SLC25A15 SLC25A13 SLC25A12 OTC NAGS
23 disorder of urea cycle metabolism and ammonia detoxification 12.8
24 n-acetylglutamate synthase deficiency 11.8
25 unicentric castleman disease 11.5
26 holocarboxylase synthetase deficiency 11.4
27 5-oxoprolinase deficiency 11.4
28 ocular motor apraxia 10.6
29 acute neonatal citrullinemia type i 10.5
30 adult-onset citrullinemia type i 10.5
31 encephalopathy 10.5
32 alacrima, achalasia, and mental retardation syndrome 10.3
33 ornithinemia 10.3
34 scleroderma, familial progressive 10.3
35 systemic scleroderma 10.3
36 tyrosinemia 10.3 SLC25A13 OTC FAH
37 epileptic encephalopathy, early infantile, 39 10.3 SLC25A13 SLC25A12
38 hepatic coma 10.3
39 cystinuria 10.2 SLC7A7 PRODH OTC
40 acute liver failure 10.2
41 tyrosinemia, type i 10.2 OTC NAGS FAH ASL
42 3-methylcrotonyl-coa carboxylase deficiency 10.2 SLC25A13 MMD HLCS
43 multiple carboxylase deficiency 10.2 OTC MMD HLCS
44 ataxia and polyneuropathy, adult-onset 10.2
45 isolated methylmalonic acidemia 10.2
46 dysgammaglobulinemia 10.1
47 dementia 10.1
48 diffuse scleroderma 10.1
49 connective tissue disease 10.1
50 collagen disease 10.1

Comorbidity relations with Urea Cycle Disorder via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Alcoholic Liver Cirrhosis Deficiency Anemia
Heart Disease Hepatic Encephalopathy
Portal Hypertension

Graphical network of the top 20 diseases related to Urea Cycle Disorder:



Diseases related to Urea Cycle Disorder

Symptoms & Phenotypes for Urea Cycle Disorder

GenomeRNAi Phenotypes related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.53 ARG2 CRYAA FAH GLUL HLCS PRODH
2 Decreased viability GR00381-A-1 9.53 PRODH SLC7A7
3 Decreased viability GR00381-A-2 9.53 SLC7A7
4 Decreased viability GR00386-A-1 9.53 ARG2 SLC25A13 SLC25A2
5 Decreased viability GR00402-S-2 9.53 CRYAA SLC7A7

MGI Mouse Phenotypes related to Urea Cycle Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ABCB11 ASL ASS1 FAH GLUL MMD
2 growth/size/body region MP:0005378 9.93 ABCB11 ASL ASS1 FAH GLUL HLCS
3 homeostasis/metabolism MP:0005376 9.8 ABCB11 ARG1 ARG2 ASL ASS1 CPS1
4 mortality/aging MP:0010768 9.47 ABCB11 ARG1 ASL ASS1 CPS1 FAH

Drugs & Therapeutics for Urea Cycle Disorder

Drugs for Urea Cycle Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2 4-phenylbutyric acid Phase 4
3 Insulin, Globin Zinc Phase 4
4 insulin Phase 4
5 calcium heparin Phase 4
6
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
7 glutamine Phase 3
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Phenylacetic acid Approved Phase 2 103-82-2 999
11
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
12
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
13
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
14
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
15
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
16 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
17
Glycerol Approved, Investigational Phase 1, Phase 2 56-81-5 753
18
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
19
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
20
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
21 Antifungal Agents Phase 2
22 Sodium Benzoate Phase 2
23 Anti-Infective Agents Phase 2
24 Antimetabolites Phase 2
25 Hormones Phase 1, Phase 2
26 Methylprednisolone Acetate Phase 1, Phase 2
27 Antineoplastic Agents, Hormonal Phase 1, Phase 2
28 Hormone Antagonists Phase 1, Phase 2
29 glucocorticoids Phase 1, Phase 2
30 Anti-Inflammatory Agents Phase 1, Phase 2
31 Protective Agents Phase 1, Phase 2
32
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
33 Pharmaceutical Solutions Phase 1
34 Bentonite Approved
35
Nitric Oxide Approved 10102-43-9 145068
36 Antidotes
37 Respiratory System Agents
38 Antioxidants
39 Anti-Asthmatic Agents
40 Endothelium-Dependent Relaxing Factors
41 Vasodilator Agents
42 Bronchodilator Agents
43 Neurotransmitter Agents
44 Trace Elements
45 Vitamins
46 Micronutrients
47 Vaccines

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI®) in Pediatric Subjects Under Two Years of Age With Urea Cycle Disorders (UCDs) Completed NCT02246218 Phase 4 RAVICTI
2 Long Term Use of HPN-100 in Urea Cycle Disorders Completed NCT01257737 Phase 4 HPN-100
3 Mechanism of Fatty Acid-induced Impairment of Glucose-stimulated Insulin Secretion - Effect of Buphenyl Completed NCT00533559 Phase 4 sodium phenylbutyrate;Placebo
4 A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
5 A Phase 3, Open-Label Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3 HPN-100
6 A Phase 3, Randomized, Double-Blind, Cross-Over, Active-Controlled Study of the Efficacy and Safety of HPN-100, Glyceryl Tri-(4-phenylbutyrate), for the Treatment of Adults With Urea Cycle Disorders (Help UCD) Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
7 A Switch-Over, Open-Label Study of the Safety, Pharmacokinetics, and Efficacy of HPN-100, Followed by Long-Term Treatment With HPN-100, in Pediatric Subjects Under 6 Years of Age With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
8 A Double-Blind, Randomized, Placebo-Controlled, Crossover Trial of Phenylbutyrate in the Treatment of Maple Syrup Urine Disease Completed NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
9 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
10 Prospective, Open Label, Multicenter, Efficacy and Safety Study of Several Infusions of HepaStem in Urea Cycle Disorders Paediatric Patients Unknown status NCT02489292 Phase 2
11 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
12 A Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders Completed NCT00551200 Phase 2 HPN-100;BUPHENYL®
13 A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Promethera HepaStem in Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Paediatric Patients. Completed NCT01765283 Phase 1, Phase 2
14 A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
15 A Phase 2, Fixed-Sequence, Open-Label, Switch-Over Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children 6-17 Years of Age With Urea Cycle Disorders, With a Long-Term Safety Extension Completed NCT00947544 Phase 2 HPN-100;NaPBA
16 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
17 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
18 Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
19 A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects With A Urea Cycle Disorder With Inadequate Control on Standard of Care Recruiting NCT03933410 Phase 2 KB195
20 A Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients Recruiting NCT03884959 Phase 2
21 A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency Active, not recruiting NCT02991144 Phase 1, Phase 2 Oral prednisone
22 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
23 A Double Blind, Placebo Controlled, Dose Escalation Trial of Glycerol Phenylbutyrate Corrector Therapy for Cystic Fibrosis Suspended NCT02323100 Phase 1, Phase 2 Ravicti low dose;Ravicti high dose;Placebo
24 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
25 Open, Prospective, Historic-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Infusion of Liver Cell Suspension (HHLivC) in Children With Urea Cycle Disorders. Terminated NCT01195753 Phase 2
26 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
27 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type II/III Spinal Muscular Atrophy Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
28 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type I Spinal Muscular Atrophy Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
29 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
30 A Phase 1/2 Single Ascending Dose Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intravenously Administered MRT5201 in Subjects With Ornithine Transcarbamylase Deficiency Withdrawn NCT03767270 Phase 1, Phase 2
31 The Use of Human Hepatocyte Transplantation as a Life Support Bridge in Terminal Liver Failure. Withdrawn NCT00805610 Phase 1, Phase 2
32 Therapeutic and Metabolic Studies of Urea Cycle Disorders: Part A: Nitrogen Flux and Ureagenesis; Part B (Closed): Phase I Adenovirus Vector-Mediated Gene Therapy for Ornithine Transcarbamylase Deficiency Unknown status NCT00004307 Phase 1
33 A Study of Glyceryl Tri-(4-phenylbutyrate) Administered Orally as a Single Dose, and Twice Daily for Seven Consecutive Days to Subjects With Hepatic Impairment With Cirrhosis and to a Control Group Completed NCT00986895 Phase 1 HPN-100
34 A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics Completed NCT03179878 Phase 1 Placebo;SYNB1020
35 Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients With MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
36 Safety and Tolerability of Phenylbutyrate in Inclusion Body Myositis Not yet recruiting NCT04421677 Phase 1 Phenylbutyrate Oral Tablet
37 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
38 Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004498 Phase 1
39 Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004386 Phase 1
40 Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment Completed NCT02311283
41 Pilot Feasibility Study in Healthy Subjects and Healthy Asymptomatic Subjects Genetically Disposed to Urea Cycle Disorders to Evaluate the Use of 13 C Isotope Ratio Measurement Completed NCT01002469
42 An Open Label Pilot Study to Evaluate the Effect of KB195, a Novel Prebiotic Gluco-Oligosaccharide Mixture, in the Diet of Patients With Urea Cycle Disorders on Gut Nitrogen Metabolism Completed NCT03797131
43 Comparative Efficacy of Phenylbutyrate vs. Benzoate in Urea Cycle Disorders Completed NCT02111200 Sodium Benzoate;Sodium Phenylbutyrate
44 Long-term Safety Follow-up Study of Patients Having Received Infusions of HepaStem Completed NCT02051049
45 Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models Completed NCT02124330
46 Open, Prospective, Diagnostic, Multicentre Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD), and Carriers of UCD Mutations, to Evaluate in Vivo Ureagenesis Measured After a Single Application of Sodium [1,2-13C]-Acetate Completed NCT01549015
47 Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy Completed NCT00472732
48 Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria Completed NCT02252770
49 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367
50 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048

Search NIH Clinical Center for Urea Cycle Disorder

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Urea Cycle Disorder cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: urea cycle disorders, inborn

Genetic Tests for Urea Cycle Disorder

Genetic tests related to Urea Cycle Disorder:

# Genetic test Affiliating Genes
1 Disorder of the Urea Cycle Metabolism 29

Anatomical Context for Urea Cycle Disorder

MalaCards organs/tissues related to Urea Cycle Disorder:

40
Liver, Brain, Kidney, Testes, Endothelial

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show top 50) (show all 256)
# Title Authors PMID Year
1
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. 24 61
24881970 2014
2
The incidence of urea cycle disorders. 61 24
23972786 2013
3
Early clinical manifestations and eating patterns in patients with urea cycle disorders. 24 61
22424941 2012
4
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. 24 61
22541557 2012
5
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. 24 61
18647279 2008
6
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. 61 24
17538087 2007
7
The Role of RRT in Hyperammonemic Patients. 24
27197910 2016
8
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. 24
25875215 2015
9
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. 24
24880889 2014
10
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. 24
23780642 2014
11
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. 24
23649895 2013
12
Ammonia toxicity to the brain. 24
23109059 2013
13
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. 24
22901741 2013
14
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 24
21802329 2011
15
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 24
21542954 2011
16
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. 24
23776373 2011
17
Glutamine as a mediator of ammonia neurotoxicity: A critical appraisal. 24
20654582 2010
18
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. 24
19287347 2009
19
Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia. 24
18683079 2008
20
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. 24
18562231 2008
21
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo. 24
18186079 2008
22
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 24
18392553 2008
23
Neurological implications of urea cycle disorders. 24
18038189 2007
24
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 24
16059747 2005
25
Arginases I and II: do their functions overlap? 24
15050972 2004
26
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 24
12594532 2003
27
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. 24
11407344 2001
28
Current strategies for the management of neonatal urea cycle disorders. 24
11148547 2001
29
Proceedings of a consensus conference for the management of patients with urea cycle disorders. 24
11148544 2001
30
Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. 24
10405441 1999
31
Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy. 24
9224507 1995
32
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. 61
31943503 2020
33
Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female. 61
32252669 2020
34
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency. 61
32359471 2020
35
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency. 61
31749211 2020
36
Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission. 61
32207085 2020
37
ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder. 61
32280145 2020
38
A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency. 61
32095520 2020
39
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency? 61
31707633 2020
40
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures. 61
30907007 2019
41
Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. 61
31738301 2019
42
Robust, Long-Term Culture of Endoderm-Derived Hepatic Organoids for Disease Modeling. 61
31522975 2019
43
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review. 61
31441224 2019
44
Perspectives on urea cycle disorder management: Results of a clinician survey. 61
31377149 2019
45
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. 61
31326288 2019
46
A Case of Atypical Adult Presentation of Urea Cycle Disorder. 61
31532938 2019
47
Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome. 61
31337745 2019
48
Postbariatric Surgery Hyperammonemia: A Rare Cause of Encephalopathy. 61
31620519 2019
49
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation. 61
30848473 2019
50
Is there any relationship between mutation in CPS1 Gene and pregnancy loss? 61
31435610 2019

Variations for Urea Cycle Disorder

Expression for Urea Cycle Disorder

Search GEO for disease gene expression data for Urea Cycle Disorder.

Pathways for Urea Cycle Disorder

Pathways related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH OTC
2
Show member pathways
13.58 SLC25A2 SLC25A15 PRODH OTC NAGS GLUL
3 12.32 SLC25A12 GLUL ASS1 ARG2 ARG1
4
Show member pathways
12.18 OTC NAGS GLUL CPS1 ASS1 ASL
5 11.66 OTC GLUL FAH CPS1 ASS1 ARG2
6
Show member pathways
11.39 PRODH ARG2 ARG1
7 11.23 GLUL CPS1 ASS1 ASL
8
Show member pathways
10.88 OTC NAGS CPS1 ASS1 ASL ARG2
9
Show member pathways
10.64 OTC NAGS GLUL CPS1 ASS1 ASL
10
Show member pathways
10.59 ASS1 ASL

GO Terms for Urea Cycle Disorder

Cellular components related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.55 PRODH OTC NAGS CPS1 ARG2
2 mitochondrial inner membrane GO:0005743 9.5 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH OTC
3 mitochondrion GO:0005739 9.4 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH OTC

Biological processes related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.93 OTC CPS1 ASS1 ARG1
2 response to amino acid GO:0043200 9.73 CPS1 ASS1 ARG1
3 liver development GO:0001889 9.71 OTC CPS1 ASS1 ARG1
4 response to steroid hormone GO:0048545 9.69 CPS1 ASS1 ARG1
5 cellular response to glucagon stimulus GO:0071377 9.67 CPS1 ASS1 ARG1
6 nitrogen compound metabolic process GO:0006807 9.63 GLUL CPS1
7 L-glutamate transmembrane transport GO:0015813 9.62 SLC25A13 SLC25A12
8 response to growth hormone GO:0060416 9.62 CPS1 ASS1
9 glutamate metabolic process GO:0006536 9.61 NAGS GLUL
10 aspartate transmembrane transport GO:0015810 9.61 SLC25A13 SLC25A12
11 L-aspartate transmembrane transport GO:0070778 9.6 SLC25A13 SLC25A12
12 arginine catabolic process GO:0006527 9.59 FAH ARG1
13 arginine metabolic process GO:0006525 9.58 ARG2 ARG1
14 malate-aspartate shuttle GO:0043490 9.58 SLC25A13 SLC25A12
15 citrulline biosynthetic process GO:0019240 9.57 OTC CPS1
16 cellular amino acid biosynthetic process GO:0008652 9.56 OTC GLUL ASS1 ASL
17 mitochondrial L-ornithine transmembrane transport GO:1990575 9.55 SLC25A2 SLC25A15
18 cellular response to oleic acid GO:0071400 9.54 CPS1 ASS1
19 response to amine GO:0014075 9.54 CPS1 ASS1 ARG1
20 arginine biosynthetic process via ornithine GO:0042450 9.52 OTC ASL
21 midgut development GO:0007494 9.5 OTC CPS1 ASS1
22 response to biotin GO:0070781 9.48 OTC HLCS
23 anion homeostasis GO:0055081 9.46 OTC CPS1
24 response to zinc ion GO:0010043 9.46 OTC CPS1 ASS1 ARG1
25 arginine catabolic process to ornithine GO:0019547 9.43 ARG2 ARG1
26 urea cycle GO:0000050 9.28 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1
27 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL

Molecular functions related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.85 HLCS GLUL FAH CPS1 ASL
2 manganese ion binding GO:0030145 9.54 GLUL ARG2 ARG1
3 ATP transmembrane transporter activity GO:0005347 9.51 SLC25A13 SLC25A12
4 amino acid binding GO:0016597 9.49 OTC ASS1
5 L-glutamate transmembrane transporter activity GO:0005313 9.48 SLC25A13 SLC25A12
6 ligase activity GO:0016874 9.46 HLCS GLUL CPS1 ASS1
7 glutamate binding GO:0016595 9.43 GLUL CPS1
8 L-aspartate transmembrane transporter activity GO:0015183 9.4 SLC25A13 SLC25A12
9 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 9.32 ARG2 ARG1
10 identical protein binding GO:0042802 9.28 SLC25A13 SLC25A12 OTC HLCS GLUL CRYAA
11 L-ornithine transmembrane transporter activity GO:0000064 9.26 SLC25A2 SLC25A15
12 arginase activity GO:0004053 8.96 ARG2 ARG1

Sources for Urea Cycle Disorder

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