MCID: URC002
MIFTS: 50

Urea Cycle Disorder

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Urea Cycle Disorder

MalaCards integrated aliases for Urea Cycle Disorder:

Name: Urea Cycle Disorder 38 12 15
Urea Cycle Disorders, Inborn 44 73
Urea Cycle Disorders 24 53
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 53

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD10 33 E72.2 E72.20
ICD9CM 35 270.6
MeSH 44 D056806
NCIt 50 C84785
SNOMED-CT 68 36444000
UMLS 73 C0154246

Summaries for Urea Cycle Disorder

NIH Rare Diseases : 53 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 argininosuccinic aciduria and citrullinemia, type ii, adult-onset. 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 Glycerol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are homeostasis/metabolism and integument

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

GeneReviews:

Related Diseases for Urea Cycle Disorder

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 argininosuccinic aciduria 32.2 ASL ASS1 NAGS OTC
2 citrullinemia, type ii, adult-onset 31.6 ASS1 SLC25A13
3 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 31.3 CPS1 NAGS OTC SLC25A15
4 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 30.9 ASS1 CPS1 NAGS OTC
5 citrullinemia, classic 30.0 ACADS ASL ASS1 OTC SLC25A13
6 postpartum psychosis 30.0 ASS1 OTC
7 argininemia 29.5 ARG1 ASL ASS1 CPS1 NAGS OTC
8 orotic aciduria 29.5 ASL ASS1 OTC
9 lysinuric protein intolerance 29.1 ASL ASS1
10 ornithine transcarbamylase deficiency, hyperammonemia due to 28.3 ASL ASS1 CPS1 NAGS OTC SLC25A13
11 unicentric castleman disease 11.2
12 n-acetylglutamate synthase deficiency 11.2
13 holocarboxylase synthetase deficiency 11.1
14 encephalopathy 10.1
15 reye syndrome 10.0 ASS1 OTC
16 isovaleric acidemia 10.0 ACADS CPS1
17 dysgammaglobulinemia 10.0
18 acyl-coa dehydrogenase, short-chain, deficiency of 10.0 ACADS SLC25A13
19 hepatitis 9.9
20 hepatic encephalopathy 9.9
21 propionic acidemia 9.8 ASS1 NAGS OTC
22 multiple sclerosis 9.8
23 infantile liver failure syndrome 1 9.8
24 pulmonary hypertension 9.8
25 acute liver failure 9.8
26 metabolic acidosis 9.8
27 inherited metabolic disorder 9.8
28 homocystinuria 9.8
29 acyl-coa dehydrogenase, very long-chain, deficiency of 9.8 ACADS SLC25A13
30 carotid artery dissection 9.5 ACADS ARG1
31 carbonic anhydrase va deficiency, hyperammonemia due to 9.0 ASS1 CPS1 NAGS OTC SLC25A15

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

MGI Mouse Phenotypes related to Urea Cycle Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 ACADS ARG1 ASL ASS1 CPS1 NAGS
2 integument MP:0010771 9.35 ACADS ASL ASS1 NAGS OTC
3 mortality/aging MP:0010768 9.23 ACADS ARG1 ASL ASS1 CPS1 NAGS

Drugs & Therapeutics for Urea Cycle Disorder

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 56-81-5 753
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 calcium heparin Phase 4
6 Hypoglycemic Agents Phase 4
7 insulin Phase 4
8 Insulin, Globin Zinc Phase 4
9 glutamine Nutraceutical Phase 3,Phase 2
10
Nitric Oxide Approved Phase 2,Not Applicable 10102-43-9 145068 160954
11
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
12
Phenylacetic acid Approved Phase 2,Phase 1 103-82-2 999
13
Acetohydroxamic Acid Approved Phase 1, Phase 2,Phase 2 546-88-3 1990
14
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
15
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
16 Hematinics Phase 2,Phase 1
17 Liver Extracts Phase 2,Phase 1
18 Antifungal Agents Phase 2,Not Applicable
19 Anti-Infective Agents Phase 2,Not Applicable
20 Antimetabolites Phase 2
21 Antimetabolites, Antineoplastic Phase 2
22 Sodium Benzoate Phase 2,Not Applicable
23 Struvite Phase 1, Phase 2
24 arginine Nutraceutical Phase 2,Not Applicable
25 Pharmaceutical Solutions Phase 1
26 Antidotes Not Applicable
27 Bentonite Not Applicable
28 Anti-Asthmatic Agents Not Applicable
29 Antioxidants Not Applicable
30 Autonomic Agents Not Applicable
31 Bronchodilator Agents Not Applicable
32 Endothelium-Dependent Relaxing Factors Not Applicable
33 Neurotransmitter Agents Not Applicable
34 Peripheral Nervous System Agents Not Applicable
35 Respiratory System Agents Not Applicable
36 Vasodilator Agents Not Applicable
37 Vaccines

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4 HPN-100
2 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders Completed NCT02246218 Phase 4 RAVICTI
3 Mechanism of Fatty Acid-induced Impairment of Glucose-simulated Insulin Secretion - Effect of Buphenyl Completed NCT00533559 Phase 4 sodium phenylbutyrate;Placebo
4 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
5 Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3 HPN-100
6 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
7 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
8 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
9 Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders Completed NCT00947544 Phase 2 HPN-100;NaPBA
10 Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders Completed NCT00551200 Phase 2 HPN-100;BUPHENYL®
11 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
12 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
13 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
14 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
15 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
16 Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002) Recruiting NCT02489292 Phase 2
17 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency Recruiting NCT02991144 Phase 1, Phase 2
18 A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency Recruiting NCT03378531 Phase 2 AEB1102
19 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Recruiting NCT02488044 Phase 1, Phase 2 AEB1102
20 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
21 Manipulating the Gut Microbiome Study Active, not recruiting NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
22 Urease Inhibitor Drug Treatment for Urea Cycle Disorders Not yet recruiting NCT02670889 Phase 1, Phase 2 Acetohydroxamic Acid;Isotopic Intravenous [13C]-Urea
23 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Terminated NCT01195753 Phase 2
24 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
25 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
26 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
27 Study of Treatment and Metabolism in Patients With Urea Cycle Disorders Unknown status NCT00004307 Phase 1
28 Safety and Tolerability of SYNB1020-CP-001 Completed NCT03179878 Phase 1 Placebo;SYNB1020
29 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
30 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
31 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
32 Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004386 Phase 1
33 Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004498 Phase 1
34 Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
35 Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders Completed NCT02111200 Not Applicable Sodium Benzoate;Sodium Phenylbutyrate
36 Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment Completed NCT02311283
37 Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function Completed NCT01549015 Not Applicable
38 Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment Completed NCT01002469 Not Applicable
39 Neurologic Injuries in Adults With Urea Cycle Disorders Completed NCT00472732
40 Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models Completed NCT02124330 Not Applicable
41 Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) Completed NCT01610089 Not Applicable
42 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
43 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
44 Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs) Recruiting NCT01948427
45 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
46 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048 Not Applicable
47 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003
48 Nitric Oxide Supplementation in Argininosuccinic Aciduria Recruiting NCT02252770 Not Applicable
49 The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Recruiting NCT01780168
50 PCORI Urea Cycle Disorder Study Active, not recruiting NCT02740153

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:

41
Liver, Brain, Kidney, Bone, Bone Marrow

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show top 50) (show all 63)
# Title Authors Year
1
Pegylated asparaginase as cause of fatal hyperammonemia in patients with latent urea cycle disorder. ( 29775236 )
2018
2
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( 28302489 )
2017
3
Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature. ( 28635494 )
2017
4
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. ( 28528898 )
2017
5
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. ( 28281899 )
2017
6
Peak hyperammonemia and atypical acute liver failure: the eruption of an urea cycle disorder during hyperemesis gravidarum. ( 28939132 )
2017
7
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. ( 27663197 )
2016
8
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 27377837 )
2016
9
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 26776297 )
2015
10
ERRATUM: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25941762 )
2015
11
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder. ( 26130895 )
2015
12
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
13
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction. ( 26654615 )
2015
14
Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. ( 25968590 )
2015
15
Diagnosis and treatment of urea cycle disorder in Japan. ( 25039902 )
2014
16
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. ( 24985015 )
2014
17
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25503497 )
2014
18
Molecular diagnosis of urea cycle disorders: current global scenario. ( 24772957 )
2013
19
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. ( 24144944 )
2013
20
The incidence of urea cycle disorders. ( 23972786 )
2013
21
Urea cycle disorder drug approved. ( 23563410 )
2013
22
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
23
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. ( 22961727 )
2013
24
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. ( 22403018 )
2012
25
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. ( 22099885 )
2012
26
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
27
Urea cycle disorder--argininosuccinic lyase deficiency. ( 22784324 )
2012
28
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. ( 22685855 )
2012
29
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. ( 21642480 )
2011
30
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. ( 20025860 )
2010
31
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
32
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. ( 19684305 )
2010
33
New insights in nutritional management and amino acid supplementation in urea cycle disorders. ( 20299258 )
2010
34
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. ( 18209596 )
2008
35
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. ( 18562231 )
2008
36
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. ( 17436013 )
2008
37
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. ( 17765814 )
2007
38
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. ( 17621492 )
2007
39
Presentation of an acquired urea cycle disorder post liver transplantation. ( 18044746 )
2007
40
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. ( 17538087 )
2007
41
[Urea cycle disorders in adult patients]. ( 18033025 )
2007
42
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. ( 15798789 )
2005
43
Considerations in the difficult-to-manage urea cycle disorder patient. ( 16227112 )
2005
44
Brain glutamine by MRS in a patient with urea cycle disorder and coma. ( 15664780 )
2005
45
Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. ( 16237708 )
2005
46
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. ( 15050979 )
2004
47
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. ( 12948741 )
2003
48
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. ( 12812952 )
2003
49
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. ( 12777539 )
2003
50
Urea cycle disorders in Thai infants: a report of 5 cases. ( 12403252 )
2002

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
13.59 ACADS ARG1 ASL ASS1 CPS1 NAGS
2
Show member pathways
13.35 ARG1 ASL ASS1 CPS1 NAGS OTC
3
Show member pathways
12.02 ACADS ARG1 ASL ASS1 CPS1 NAGS
4 11.58 ARG1 ASS1 CPS1 OTC
5 11.09 ASL ASS1 CPS1
6
Show member pathways
10.85 ARG1 ASL ASS1 CPS1 NAGS OTC
7
Show member pathways
10.55 ASL ASS1
8
Show member pathways
10.48 ARG1 ASL ASS1 CPS1 NAGS OTC

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 inner membrane GO:0005743 9.46 CPS1 OTC SLC25A13 SLC25A15
2 mitochondrial matrix GO:0005759 9.26 ACADS CPS1 NAGS OTC
3 mitochondrion GO:0005739 9.17 ACADS ASS1 CPS1 NAGS OTC SLC25A13

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.86 ARG1 ASS1 CPS1 OTC
2 response to lipopolysaccharide GO:0032496 9.76 ARG1 ASS1 CPS1
3 cellular amino acid biosynthetic process GO:0008652 9.71 ASL ASS1 OTC
4 liver development GO:0001889 9.67 ARG1 ASS1 CPS1 OTC
5 cellular response to glucagon stimulus GO:0071377 9.65 ARG1 ASS1 CPS1
6 response to amino acid GO:0043200 9.63 ARG1 ASS1 CPS1
7 response to glucocorticoid GO:0051384 9.62 ASS1 CPS1
8 mitochondrial transport GO:0006839 9.62 SLC25A13 SLC25A15
9 response to peptide hormone GO:0043434 9.61 ARG1 ASS1
10 cellular response to cAMP GO:0071320 9.61 ASS1 CPS1
11 response to steroid hormone GO:0048545 9.61 ARG1 ASS1 CPS1
12 cellular response to dexamethasone stimulus GO:0071549 9.6 ARG1 ASS1
13 protein homotrimerization GO:0070207 9.59 ARG1 OTC
14 nitrogen compound metabolic process GO:0006807 9.58 CPS1 UPB1
15 response to growth hormone GO:0060416 9.57 ASS1 CPS1
16 citrulline biosynthetic process GO:0019240 9.55 CPS1 OTC
17 arginine biosynthetic process via ornithine GO:0042450 9.52 ASL OTC
18 primary metabolic process GO:0044238 9.51 CPS1 OTC
19 response to amine GO:0014075 9.5 ARG1 ASS1 CPS1
20 cellular response to oleic acid GO:0071400 9.49 ASS1 CPS1
21 response to zinc ion GO:0010043 9.46 ARG1 ASS1 CPS1 OTC
22 midgut development GO:0007494 9.43 ASS1 CPS1 OTC
23 anion homeostasis GO:0055081 9.4 CPS1 OTC
24 arginine biosynthetic process GO:0006526 9.35 ASL ASS1 CPS1 NAGS OTC
25 urea cycle GO:0000050 9.17 ARG1 ASL ASS1 CPS1 NAGS OTC

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

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Urea Cycle Disorder

3 CDC
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69 SNOMED-CT via HPO
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