UCD
MCID: URC002
MIFTS: 51

Urea Cycle Disorder (UCD)

Categories: Blood diseases, Metabolic diseases, Nephrological 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 44 70
Urea Cycle Disorders 25 20
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 20

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD9CM 34 270.6
MeSH 44 D056806
NCIt 50 C84785
SNOMED-CT 67 36444000
ICD10 32 E72.2
UMLS 70 C0154246

Summaries for Urea Cycle Disorder

GARD : 20 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 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. An important gene associated with Urea Cycle Disorder is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, cortex and brain, 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 : 73 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 134)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 32.2 SLC25A15 OTC NAGS CPS1 ASS1
2 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 31.6 SLC25A2 SLC25A15 SLC25A13 OTC NAGS CPS1
3 ornithine transcarbamylase deficiency, hyperammonemia due to 31.3 SLC25A15 SLC25A13 OTC NAGS FAH CPS1
4 carbonic anhydrase va deficiency, hyperammonemia due to 31.0 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
5 argininosuccinic aciduria 30.9 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
6 citrullinemia, classic 30.9 SLC7A7 SLC25A2 SLC25A15 SLC25A13 SLC25A12 OTC
7 argininemia 30.7 SLC7A7 SLC25A15 SLC25A13 PRODH PAH OTC
8 propionic acidemia 30.6 PAH OTC NAGS CPS1 ASS1
9 postpartum psychosis 30.4 OTC ASS1
10 inherited metabolic disorder 30.4 SERPINA1 PRODH NAGS CRYAA
11 methylmalonic acidemia 30.4 PRODH PAH OTC NAGS CPS1
12 citrullinemia, type ii, adult-onset 29.9 SLC25A2 SLC25A15 SLC25A13 SLC25A12 NAGS CPS1
13 crigler-najjar syndrome, type i 29.9 SERPINA1 OTC FAH ABCB11
14 lysinuric protein intolerance 29.9 SLC7A7 PRODH OTC NAGS ASS1 ASL
15 phenylketonuria 29.8 PRODH PAH OTC ASS1 ADSL
16 orotic aciduria 29.7 SLC7A7 OTC NAGS CPS1 ASS1 ASL
17 maple syrup urine disease 29.5 PRODH PAH OTC NAGS CPS1 ASS1
18 disorder of urea cycle metabolism and ammonia detoxification 11.5
19 n-acetylglutamate synthase deficiency 11.4
20 unicentric castleman disease 11.2
21 ocular motor apraxia 10.4
22 encephalopathy 10.3
23 scleroderma, familial progressive 10.2
24 isolated methylmalonic acidemia 10.2
25 reye syndrome 10.2 PRODH OTC ASS1
26 developmental and epileptic encephalopathy 39 10.2 SLC25A13 SLC25A12
27 systemic scleroderma 10.2
28 histidine metabolism disease 10.2 PRODH ADSL
29 tyrosinemia, type ii 10.2 NAGS FAH CPS1
30 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
31 ochronosis 10.2 FAH CRYAA
32 3-methylcrotonyl-coa carboxylase deficiency 10.2 SLC25A13 PRODH ADSL
33 type 2 diabetes mellitus 10.2
34 cystinuria 10.2 SLC7A7 PRODH OTC
35 bile duct cysts 10.1 SERPINA1 ABCB11
36 ataxia and polyneuropathy, adult-onset 10.1
37 hepatic coma 10.1
38 ornithinemia 10.1
39 diabetes mellitus 10.1
40 glutaric acidemia i 10.1
41 exanthem 10.1
42 metabolic acidosis 10.1
43 organic acidemia 10.1
44 status epilepticus 10.1
45 abdominal obesity-metabolic syndrome 1 10.1 PAH OTC FAH
46 autosomal recessive disease 10.1 SLC25A13 PRODH CRYAA ASS1
47 glycine encephalopathy 10.0 SLC7A7 PRODH NAGS GAMT
48 cerebral creatine deficiency syndrome 2 10.0 GAMT ADSL
49 galactosemia i 10.0 SLC25A13 PAH CRYAA
50 mastitis 10.0

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 GR00240-S-1 9.5 ADSL
2 Decreased viability GR00249-S 9.5 ARG2 CRYAA FAH PRODH SLC25A15 SLC7A7
3 Decreased viability GR00381-A-1 9.5 PRODH SLC7A7
4 Decreased viability GR00381-A-2 9.5 SLC7A7
5 Decreased viability GR00386-A-1 9.5 ARG2 SLC25A13 SLC25A2
6 Decreased viability GR00402-S-2 9.5 CRYAA SLC7A7

MGI Mouse Phenotypes related to Urea Cycle Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ABCB11 ASL ASS1 CPS1 FAH GAMT
2 homeostasis/metabolism MP:0005376 10.03 ABCB11 ARG1 ARG2 ASL ASS1 CPS1
3 mortality/aging MP:0010768 9.86 ABCB11 ADSL ARG1 ASL ASS1 CPS1
4 renal/urinary system MP:0005367 9.23 ASL FAH GAMT OTC PAH SLC25A13

Drugs & Therapeutics for Urea Cycle Disorder

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Phenylacetic acid Approved Phase 2 103-82-2 999
4
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
5
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
6 Anti-Infective Agents Phase 2
7 Antifungal Agents Phase 2
8 Sodium Benzoate Phase 2
9 Antimetabolites Phase 2
10 glutamine Phase 2
11 Liver Extracts Phase 2
12
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
13 Pharmaceutical Solutions Phase 1
14 Bentonite Approved
15
Nitric Oxide Approved 10102-43-9 145068
16
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
17
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
18 Antidotes
19 Neurotransmitter Agents
20 Respiratory System Agents
21 Anti-Asthmatic Agents
22 Vasodilator Agents
23 Antioxidants
24 Endothelium-Dependent Relaxing Factors
25 Bronchodilator Agents
26 carnitine
27 Trace Elements
28 Micronutrients
29 Vitamins
30 4-phenylbutyric acid Early Phase 1
31 Protective Agents Early Phase 1
32 Vaccines

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Long Term Use of HPN-100 in Urea Cycle Disorders Completed NCT01257737 Phase 4 HPN-100
2 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
3 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
4 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)
5 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
6 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
7 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
8 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
9 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
10 Prospective, Open Label, Multicenter, Efficacy and Safety Study of Several Infusions of HepaStem in Urea Cycle Disorders Paediatric Patients Completed NCT02489292 Phase 2
11 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
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, 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
16 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
17 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
18 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
19 A Prospective, Open Label, Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients Withdrawn NCT03884959 Phase 2
20 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
21 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
22 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
23 Safety and Tolerability of Phenylbutyrate in Inclusion Body Myositis Active, not recruiting NCT04421677 Phase 1 Phenylbutyrate Oral Tablet
24 Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004498 Phase 1
25 Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004386 Phase 1
26 Comparative Efficacy of Phenylbutyrate vs. Benzoate in Urea Cycle Disorders Completed NCT02111200 Sodium Benzoate;Sodium Phenylbutyrate
27 Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models Completed NCT02124330
28 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
29 Comparative Effectiveness of Therapy in Rare Diseases: Liver Transplantation vs. Conservative Management of Urea Cycle Disorders Completed NCT02740153
30 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
31 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
32 Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment Completed NCT02311283
33 Long-term Safety Follow-up Study of Patients Having Received Infusions of HepaStem Completed NCT02051049
34 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Completed NCT03721367
35 Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism Completed NCT04248062
36 Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria Completed NCT02252770
37 Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy Completed NCT00472732
38 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003
39 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
40 Systemic Biomarkers of Brain Injury From Hyperammonemia Recruiting NCT04602325
41 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
42 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048
43 A Collection of Case Studies in Infants With Urea Cycle Disorders (UCD) to Evaluate Infant Growth and the Safety of a New Medical Food for UCD Active, not recruiting NCT03911089
44 HepaStem Long-Term Safety Registry - Registry for Patients Who Have Been Administered HepaStem Enrolling by invitation NCT03343756
45 Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders Not yet recruiting NCT04612764
46 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
47 Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders Terminated NCT01541722
48 Long-Term Registry of Patients With Urea Cycle Disorders (UCDs) Terminated NCT01948427
49 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

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, Cortex, Brain, Endothelial, Prefrontal Cortex, Retina, Kidney

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show top 50) (show all 277)
# Title Authors PMID Year
1
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. 61 25
24881970 2014
2
The incidence of urea cycle disorders. 25 61
23972786 2013
3
Early clinical manifestations and eating patterns in patients with urea cycle disorders. 61 25
22424941 2012
4
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. 25 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. 61 25
18647279 2008
6
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. 25 61
17538087 2007
7
The Role of RRT in Hyperammonemic Patients. 25
27197910 2016
8
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. 25
25875215 2015
9
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. 25
24880889 2014
10
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. 25
23780642 2014
11
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. 25
23649895 2013
12
Ammonia toxicity to the brain. 25
23109059 2013
13
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. 25
22901741 2013
14
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 25
21802329 2011
15
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 25
21542954 2011
16
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. 25
23776373 2011
17
Glutamine as a mediator of ammonia neurotoxicity: A critical appraisal. 25
20654582 2010
18
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. 25
19287347 2009
19
Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia. 25
18683079 2008
20
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. 25
18562231 2008
21
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo. 25
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. 25
18392553 2008
23
Neurological implications of urea cycle disorders. 25
18038189 2007
24
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 25
16059747 2005
25
Arginases I and II: do their functions overlap? 25
15050972 2004
26
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 25
12594532 2003
27
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. 25
11407344 2001
28
Current strategies for the management of neonatal urea cycle disorders. 25
11148547 2001
29
Proceedings of a consensus conference for the management of patients with urea cycle disorders. 25
11148544 2001
30
Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. 25
10405441 1999
31
Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy. 25
9224507 1995
32
Arginase-1 deficiency in neural cells does not contribute to neurodevelopment or functional outcomes after sciatic nerve injury. 61
33561495 2021
33
Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3-9 exons of OTC gene. 61
33550136 2021
34
Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia. 61
32770317 2021
35
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. 61
33789861 2021
36
[A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy]. 61
33627582 2021
37
Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI. 61
32920938 2021
38
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome. 61
33473334 2021
39
Glucagon Receptor Inhibition Reduces Hyperammonemia and Lethality in Male Mice with Urea Cycle Disorder. 61
33513617 2021
40
Glucagon Receptor Inhibition Reduces Hyperammonemia and Lethality in Male Mice with Urea Cycle Disorder. 61
33206168 2021
41
Review and Consensus on Pharmacogenomic Testing in Psychiatry. 61
33147643 2021
42
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. 61
33231058 2020
43
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency. 61
33228018 2020
44
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients. 61
32828733 2020
45
[Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency]. 61
33210478 2020
46
High Blood Pressure in a Urea Cycle Disorder: Case Report. 61
33133764 2020
47
A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I. 61
32637322 2020
48
Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy. 61
32905004 2020
49
Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics. 61
32944429 2020
50
Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission. 61
32207085 2020

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH PAH
2
Show member pathways
13.62 SLC25A2 SLC25A15 PRODH PAH OTC NAGS
3 12.27 SLC25A12 ASS1 ARG2 ARG1
4
Show member pathways
12.08 PAH OTC NAGS CPS1 ASS1 ASL
5
Show member pathways
11.76 PRODH PAH FAH
6 11.76 OTC FAH CPS1 ASS1 ARG2 ARG1
7
Show member pathways
11.5 PRODH GAMT ARG2 ARG1
8 11.27 CPS1 ASS1 ASL ADSL
9
Show member pathways
10.93 OTC NAGS CPS1 ASS1 ASL ARG2
10
Show member pathways
10.61 OTC NAGS GAMT CPS1 ASS1 ASL
11
Show member pathways
10.57 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 mitochondrion GO:0005739 9.65 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH OTC
2 mitochondrial matrix GO:0005759 9.55 PRODH OTC NAGS CPS1 ARG2
3 mitochondrial inner membrane GO:0005743 9.17 SLC25A2 SLC25A15 SLC25A13 SLC25A12 PRODH OTC

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.93 OTC CPS1 ASS1 ARG1
2 liver development GO:0001889 9.71 OTC CPS1 ASS1 ARG1
3 response to amino acid GO:0043200 9.69 CPS1 ASS1 ARG1
4 response to steroid hormone GO:0048545 9.67 CPS1 ASS1 ARG1
5 cellular response to glucagon stimulus GO:0071377 9.65 CPS1 ASS1 ARG1
6 transport GO:0006810 9.64 SLC25A13 SLC25A12
7 L-glutamate transmembrane transport GO:0015813 9.63 SLC25A13 SLC25A12
8 response to growth hormone GO:0060416 9.62 CPS1 ASS1
9 L-phenylalanine catabolic process GO:0006559 9.62 PAH FAH
10 aspartate transmembrane transport GO:0015810 9.61 SLC25A13 SLC25A12
11 aromatic amino acid family metabolic process GO:0009072 9.61 PAH FAH
12 L-aspartate transmembrane transport GO:0070778 9.6 SLC25A13 SLC25A12
13 arginine catabolic process GO:0006527 9.59 FAH ARG1
14 arginine metabolic process GO:0006525 9.58 ARG2 ARG1
15 cellular response to ammonium ion GO:0071242 9.58 CPS1 ASS1
16 malate-aspartate shuttle GO:0043490 9.57 SLC25A13 SLC25A12
17 citrulline biosynthetic process GO:0019240 9.56 OTC CPS1
18 cellular amino acid biosynthetic process GO:0008652 9.56 PAH OTC ASS1 ASL
19 mitochondrial L-ornithine transmembrane transport GO:1990575 9.55 SLC25A2 SLC25A15
20 cellular response to oleic acid GO:0071400 9.54 CPS1 ASS1
21 response to amine GO:0014075 9.54 CPS1 ASS1 ARG1
22 arginine biosynthetic process via ornithine GO:0042450 9.52 OTC ASL
23 midgut development GO:0007494 9.5 OTC CPS1 ASS1
24 anion homeostasis GO:0055081 9.46 OTC CPS1
25 response to zinc ion GO:0010043 9.46 OTC CPS1 ASS1 ARG1
26 arginine catabolic process to ornithine GO:0019547 9.43 ARG2 ARG1
27 urea cycle GO:0000050 9.28 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1
28 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.77 PAH FAH CPS1 ASL ADSL
2 identical protein binding GO:0042802 9.61 SLC25A13 SLC25A12 SERPINA1 OTC CRYAA ASS1
3 amino acid binding GO:0016597 9.43 OTC ASS1
4 L-glutamate transmembrane transporter activity GO:0005313 9.4 SLC25A13 SLC25A12
5 L-aspartate transmembrane transporter activity GO:0015183 9.32 SLC25A13 SLC25A12
6 L-ornithine transmembrane transporter activity GO:0000064 9.26 SLC25A2 SLC25A15
7 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 9.16 ARG2 ARG1
8 arginase activity GO:0004053 8.62 ARG2 ARG1

Sources for Urea Cycle Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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