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 37 12 14
Urea Cycle Disorders, Inborn 41 69
Urea Cycle Disorders 23 49
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 12
Disorder of the Urea Cycle Metabolism 28
Disorder of Urea Cycle Metabolism 12
Urea Cycle Defect 12
Ucd 49

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD10 32 E72.2 E72.20
ICD9CM 34 270.6
MeSH 41 D056806
NCIt 46 C84785
SNOMED-CT 64 36444000
UMLS 69 C0154246

Summaries for Urea Cycle Disorder

NIH Rare Diseases : 49 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. Last updated: 9/10/2013

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 : 72 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 all 32)
# Related Disease Score Top Affiliating Genes
1 argininosuccinic aciduria 32.5 ASL ASS1 NAGS OTC
2 citrullinemia, type ii, adult-onset 31.6 ASS1 SLC25A13
3 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 31.6 CPS1 NAGS OTC SLC25A15
4 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.2 ASS1 CPS1 NAGS OTC
5 citrullinemia, classic 31.2 ACADS ASL ASS1 OTC SLC25A13
6 argininemia 30.4 ARG1 ASL ASS1 CPS1 NAGS OTC
7 postpartum psychosis 29.9 ASS1 OTC
8 ornithine transcarbamylase deficiency, hyperammonemia due to 29.6 ASL ASS1 CPS1 NAGS OTC SLC25A13
9 orotic aciduria 29.6 ASL ASS1 OTC
10 lysinuric protein intolerance 29.5 ASL ASS1
11 carbonic anhydrase va deficiency, hyperammonemia due to 29.3 ASS1 CPS1 NAGS OTC SLC25A15
12 unicentric castleman disease 11.2
13 n-acetylglutamate synthase deficiency 11.2
14 holocarboxylase synthetase deficiency 11.1
15 5-oxoprolinase deficiency 11.1
16 encephalopathy 10.1
17 reye syndrome 10.0 ASS1 OTC
18 isovaleric acidemia 10.0 ACADS CPS1
19 dysgammaglobulinemia 10.0
20 acyl-coa dehydrogenase, short-chain, deficiency of 10.0 ACADS SLC25A13
21 hepatitis 9.9
22 hepatic encephalopathy 9.9
23 propionic acidemia 9.9 ASS1 NAGS OTC
24 acyl-coa dehydrogenase, very long-chain, deficiency of 9.9 ACADS SLC25A13
25 brain edema 9.8 OTC SLC25A13
26 multiple sclerosis 9.8
27 infantile liver failure syndrome 1 9.8
28 pulmonary hypertension 9.8
29 acute liver failure 9.8
30 metabolic acidosis 9.8
31 inherited metabolic disorder 9.8
32 homocystinuria 9.8

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:

43
# 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 46507594 772
3 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1
4 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
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 10102-43-9 145068
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Phenylacetic acid Approved Phase 2,Phase 1 103-82-2 999
13
Acetohydroxamic Acid Approved Phase 1, 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
19 Anti-Infective Agents Phase 2
20 Antimetabolites Phase 2
21 Antimetabolites, Antineoplastic Phase 2
22 Sodium Benzoate Phase 2
23 Struvite Phase 1, Phase 2
24 arginine Nutraceutical Phase 2
25 Pharmaceutical Solutions Phase 1
26 Antidotes
27 Bentonite
28 Anti-Asthmatic Agents
29 Antioxidants
30 Autonomic Agents
31 Bronchodilator Agents
32 Endothelium-Dependent Relaxing Factors
33 Neurotransmitter Agents
34 Peripheral Nervous System Agents
35 Respiratory System Agents
36 Vasodilator Agents
37 Vaccines

Interventional clinical trials:

(show top 50) (show all 54)

# Name Status NCT ID Phase Drugs
1 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
2 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
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 Recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
9 Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders Completed NCT00551200 Phase 2 HPN-100;BUPHENYL®
10 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
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 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
29 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
30 Safety and Tolerability of SYNB1020-CP-001 Active, not recruiting NCT03179878 Phase 1 Placebo;SYNB1020
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 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
38 Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment Completed NCT01002469
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
41 Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) Completed NCT01610089
42 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
43 PCORI Urea Cycle Disorder Study Recruiting NCT02740153
44 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
45 Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs) Recruiting NCT01948427
46 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
47 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048
48 Orphan Europe Carbaglu® Surveillance Protocol Recruiting NCT03409003
49 Nitric Oxide Supplementation in Argininosuccinic Aciduria Recruiting NCT02252770
50 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Active, not recruiting NCT02051049

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 28

Anatomical Context for Urea Cycle Disorder

MalaCards organs/tissues related to Urea Cycle Disorder:

38
Liver, Brain, Kidney, Bone, Bone Marrow

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show top 50) (show all 58)
# Title Authors Year
1
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. ( 28528898 )
2017
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
Peak hyperammonemia and atypical acute liver failure: the eruption of an urea cycle disorder during hyperemesis gravidarum. ( 28939132 )
2017
5
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. ( 28281899 )
2017
6
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 27377837 )
2016
7
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder. ( 26130895 )
2015
8
Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. ( 25968590 )
2015
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
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
12
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction. ( 26654615 )
2015
13
Diagnosis and treatment of urea cycle disorder in Japan. ( 25039902 )
2014
14
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25503497 )
2014
15
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. ( 24985015 )
2014
16
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
17
Urea cycle disorder drug approved. ( 23563410 )
2013
18
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
19
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. ( 22961727 )
2013
20
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
21
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. ( 22685855 )
2012
22
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. ( 22099885 )
2012
23
Urea cycle disorder--argininosuccinic lyase deficiency. ( 22784324 )
2012
24
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. ( 22403018 )
2012
25
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. ( 21642480 )
2011
26
New insights in nutritional management and amino acid supplementation in urea cycle disorders. ( 20299258 )
2010
27
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. ( 19684305 )
2010
28
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. ( 20025860 )
2010
29
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
30
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. ( 18209596 )
2008
31
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. ( 17436013 )
2008
32
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. ( 18516804 )
2008
33
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. ( 18562231 )
2008
34
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. ( 17765814 )
2007
35
Presentation of an acquired urea cycle disorder post liver transplantation. ( 18044746 )
2007
36
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. ( 17621492 )
2007
37
[Urea cycle disorders in adult patients]. ( 18033025 )
2007
38
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
39
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. ( 15798789 )
2005
40
Considerations in the difficult-to-manage urea cycle disorder patient. ( 16227112 )
2005
41
Brain glutamine by MRS in a patient with urea cycle disorder and coma. ( 15664780 )
2005
42
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. ( 15050979 )
2004
43
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
44
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. ( 12812952 )
2003
45
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. ( 12777539 )
2003
46
Urea cycle disorders in Thai infants: a report of 5 cases. ( 12403252 )
2002
47
Long-term correction of urea cycle disorders. ( 11148551 )
2001
48
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( 9686352 )
1998
49
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( 7773204 )
1995
50
Urea Cycle Disorders Overview ( 20301396 )
1993

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
13.38 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
10.52 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 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.74 ARG1 CPS1 OTC
2 liver development GO:0001889 9.63 ARG1 CPS1 OTC
3 mitochondrial transport GO:0006839 9.56 SLC25A13 SLC25A15
4 cellular response to glucagon stimulus GO:0071377 9.55 ARG1 CPS1
5 response to steroid hormone GO:0048545 9.54 ARG1 CPS1
6 cellular amino acid biosynthetic process GO:0008652 9.54 ASL ASS1 OTC
7 response to amino acid GO:0043200 9.52 ARG1 CPS1
8 protein homotrimerization GO:0070207 9.51 ARG1 OTC
9 nitrogen compound metabolic process GO:0006807 9.49 CPS1 UPB1
10 response to amine GO:0014075 9.48 ARG1 CPS1
11 midgut development GO:0007494 9.43 CPS1 OTC
12 response to zinc ion GO:0010043 9.43 ARG1 CPS1 OTC
13 citrulline biosynthetic process GO:0019240 9.4 CPS1 OTC
14 arginine biosynthetic process GO:0006526 9.35 ASL ASS1 CPS1 NAGS OTC
15 arginine biosynthetic process via ornithine GO:0042450 9.32 ASL OTC
16 urea cycle GO:0000050 9.17 ARG1 ASL ASS1 CPS1 NAGS OTC
17 anion homeostasis GO:0055081 9.16 CPS1 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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27 GO
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32 ICD10
33 ICD10 via Orphanet
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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