UCD
MCID: URC002
MIFTS: 50

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 39 12 15
Urea Cycle Disorders, Inborn 45 74
Urea Cycle Disorders 25 54
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 12
Disorder of the Urea Cycle Metabolism 30
Disorder of Urea Cycle Metabolism 12
Urea Cycle Defect 12
Ucd 54

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD9CM 36 270.6
MeSH 45 D056806
NCIt 51 C84785
SNOMED-CT 69 36444000
ICD10 34 E72.2 E72.20
UMLS 74 C0154246

Summaries for Urea Cycle Disorder

NIH Rare Diseases : 54 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 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 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 carbamide peroxide and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 : 77 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 44)
# Related Disease Score Top Affiliating Genes
1 argininosuccinic aciduria 32.4 ASL ASS1 NAGS OTC SLC25A13
2 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 31.9 CPS1 NAGS OTC SLC25A15
3 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.4 ASS1 CPS1 NAGS OTC
4 ornithine transcarbamylase deficiency, hyperammonemia due to 31.1 ASL ASS1 CPS1 NAGS OTC SLC25A13
5 argininemia 31.0 ARG1 ASL ASS1 CPS1 NAGS OTC
6 citrullinemia, type ii, adult-onset 30.6 ASS1 SLC25A13
7 citrullinemia, classic 30.5 ACADS ASS1 NAGS OTC SLC25A13 SLC25A15
8 reye syndrome 30.1 ASS1 OTC
9 postpartum psychosis 30.0 ASS1 OTC
10 orotic aciduria 29.7 ASL ASS1 OTC
11 lysinuric protein intolerance 29.7 ASL ASS1
12 unicentric castleman disease 11.4
13 holocarboxylase synthetase deficiency 11.2
14 5-oxoprolinase deficiency 11.2
15 n-acetylglutamate synthase deficiency 11.2
16 citrullinemia, type ii, neonatal-onset 10.4
17 acute neonatal citrullinemia type i 10.4
18 adult-onset citrullinemia type i 10.4
19 encephalopathy 10.2
20 scleroderma, familial progressive 10.1
21 systemic scleroderma 10.1
22 dysgammaglobulinemia 10.1
23 fatty liver disease 10.0
24 hepatic encephalopathy 10.0
25 isovaleric acidemia 10.0 ACADS CPS1
26 acyl-coa dehydrogenase, short-chain, deficiency of 10.0 ACADS SLC25A13
27 acyl-coa dehydrogenase, very long-chain, deficiency of 9.9 ACADS SLC25A13
28 carnosinemia 9.9
29 cystic fibrosis 9.9
30 aceruloplasminemia 9.9
31 multiple sclerosis 9.9
32 kleine-levin hibernation syndrome 9.9
33 crigler-najjar syndrome, type i 9.9
34 infantile liver failure syndrome 1 9.9
35 pulmonary hypertension 9.9
36 acute liver failure 9.9
37 metabolic acidosis 9.9
38 inherited metabolic disorder 9.9
39 homocystinuria 9.9
40 seizure disorder 9.9
41 brain edema 9.8 OTC SLC25A13
42 carotid artery dissection 9.8 ACADS ARG1
43 propionic acidemia 9.7 ASS1 NAGS OTC SLC25A13
44 carbonic anhydrase va deficiency, hyperammonemia due to 9.2 ASS1 CPS1 NAGS OTC SLC25A13 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ACADS ASL ASS1 NAGS OTC SLC25A13
2 homeostasis/metabolism MP:0005376 9.76 ACADS ARG1 ASL ASS1 CPS1 NAGS
3 integument MP:0010771 9.35 ACADS ASL ASS1 NAGS OTC
4 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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-43-6
2
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 56-81-5 753
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
4 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Hypoglycemic Agents Phase 4
7 calcium heparin Phase 4
8 Insulin, Globin Zinc Phase 4
9 insulin Phase 4
10 glutamine Phase 3,Phase 2
11
Nitric Oxide Approved Phase 2,Not Applicable 10102-43-9 145068
12
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
13
Phenylacetic acid Approved Phase 2,Phase 1 103-82-2 999
14
Acetohydroxamic acid Approved Phase 1, Phase 2 546-88-3 1990
15
Ornithine Approved, Nutraceutical Phase 2,Phase 1 3184-13-2, 70-26-8 6262
16
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
17 Liver Extracts Phase 2,Phase 1
18 Hematinics Phase 2,Phase 1
19 arginine Phase 2,Not Applicable
20 Antimetabolites, Antineoplastic Phase 2
21 Sodium Benzoate Phase 2,Not Applicable
22 Antifungal Agents Phase 2,Not Applicable
23 Anti-Infective Agents Phase 2,Not Applicable
24 Antimetabolites Phase 2
25 Pharmaceutical Solutions Phase 1
26 Bentonite Not Applicable
27 Antidotes Not Applicable
28 Endothelium-Dependent Relaxing Factors Not Applicable
29 Respiratory System Agents Not Applicable
30 Bronchodilator Agents Not Applicable
31 Peripheral Nervous System Agents Not Applicable
32 Vasodilator Agents Not Applicable
33 Antioxidants Not Applicable
34 Autonomic Agents Not Applicable
35 Anti-Asthmatic Agents Not Applicable
36 Free Radical Scavengers Not Applicable
37 Neurotransmitter Agents Not Applicable
38 Vaccines

Interventional clinical trials:

(show top 50) (show all 58)
# 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 to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002) Unknown status NCT02489292 Phase 2
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 Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders Completed NCT00551200 Phase 2 HPN-100;BUPHENYL®
12 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
13 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
14 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
15 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
16 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
17 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Completed NCT02488044 Phase 1, Phase 2 AEB1102
18 A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients Recruiting NCT03884959 Phase 2
19 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency Recruiting NCT02991144 Phase 1, Phase 2
20 A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency Recruiting NCT03378531 Phase 2 AEB1102
21 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
22 Manipulating the Gut Microbiome Study Active, not recruiting NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
23 Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC Deficiency Not yet recruiting NCT03767270 Phase 1, Phase 2
24 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Terminated NCT01195753 Phase 2
25 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
26 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
27 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
28 Study of Treatment and Metabolism in Patients With Urea Cycle Disorders Unknown status NCT00004307 Phase 1
29 Safety and Tolerability of SYNB1020-CP-001 Completed NCT03179878 Phase 1 Placebo;SYNB1020
30 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
31 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
32 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
33 Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004386 Phase 1
34 Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004498 Phase 1
35 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Unknown status NCT02051049
36 Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
37 Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders Completed NCT02111200 Not Applicable Sodium Benzoate;Sodium Phenylbutyrate
38 Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment Completed NCT02311283
39 Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function Completed NCT01549015 Not Applicable
40 Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment Completed NCT01002469 Not Applicable
41 Neurologic Injuries in Adults With Urea Cycle Disorders Completed NCT00472732
42 Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models Completed NCT02124330 Not Applicable
43 Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) Completed NCT01610089 Not Applicable
44 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
45 Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367
46 Clinical Food Study to Evaluate the Effect of KB195 on Gut Nitrogen Metabolism in Patients With Urea Cycle Disorders Recruiting NCT03797131 Not Applicable
47 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
48 Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs) Recruiting NCT01948427
49 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
50 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048 Not Applicable

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 30

Anatomical Context for Urea Cycle Disorder

MalaCards organs/tissues related to Urea Cycle Disorder:

42
Brain, Kidney, Liver, Bone, Bone Marrow

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show all 40)
# Title Authors Year
1
Pegylated asparaginase as cause of fatal hyperammonemia in patients with latent urea cycle disorder. ( 29775236 )
2018
2
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature. ( 30007405 )
2018
3
Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. ( 30588389 )
2018
4
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( 28302489 )
2017
5
Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature. ( 28635494 )
2017
6
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. ( 28528898 )
2017
7
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. ( 28281899 )
2017
8
Peak hyperammonemia and atypical acute liver failure: the eruption of an urea cycle disorder during hyperemesis gravidarum. ( 28939132 )
2017
9
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 27377837 )
2016
10
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 26776297 )
2015
11
ERRATUM: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25941762 )
2015
12
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder. ( 26130895 )
2015
13
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
14
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction. ( 26654615 )
2015
15
Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. ( 25968590 )
2015
16
Diagnosis and treatment of urea cycle disorder in Japan. ( 25039902 )
2014
17
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. ( 24985015 )
2014
18
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25503497 )
2014
19
Urea cycle disorder drug approved. ( 23563410 )
2013
20
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
21
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. ( 22961727 )
2013
22
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
23
Urea cycle disorder--argininosuccinic lyase deficiency. ( 22784324 )
2012
24
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. ( 22685855 )
2012
25
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. ( 21642480 )
2011
26
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. ( 19684305 )
2010
27
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. ( 18209596 )
2008
28
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. ( 17436013 )
2008
29
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. ( 18516804 )
2008
30
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. ( 17621492 )
2007
31
Presentation of an acquired urea cycle disorder post liver transplantation. ( 18044746 )
2007
32
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. ( 15798789 )
2005
33
Considerations in the difficult-to-manage urea cycle disorder patient. ( 16227112 )
2005
34
Brain glutamine by MRS in a patient with urea cycle disorder and coma. ( 15664780 )
2005
35
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. ( 15050979 )
2004
36
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
37
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. ( 12777539 )
2003
38
A case study: urea cycle disorder. ( 1886557 )
1991
39
Urea cycle disorder in C3H-H-2 degree mice with juvenile steatosis of viscera. ( 2298291 )
1990
40
Ornithine methyl ester. An unusual metabolite encountered in the urine of patients with a urea cycle disorder characterized by hyperammonemia, hyperornithinemia and homocitrullinuria. ( 862180 )
1977

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
13.65 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 11.52 ARG1 ASS1 CPS1 OTC
5 11.04 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 23)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 ARG1 ASS1 CPS1 OTC
2 response to lipopolysaccharide GO:0032496 9.74 ARG1 ASS1 CPS1
3 cellular amino acid biosynthetic process GO:0008652 9.7 ASL ASS1 OTC
4 liver development GO:0001889 9.67 ARG1 ASS1 CPS1 OTC
5 response to amino acid GO:0043200 9.65 ARG1 ASS1 CPS1
6 response to glucocorticoid GO:0051384 9.61 ASS1 CPS1
7 response to peptide hormone GO:0043434 9.61 ARG1 ASS1
8 response to steroid hormone GO:0048545 9.61 ARG1 ASS1 CPS1
9 cellular response to cAMP GO:0071320 9.6 ASS1 CPS1
10 cellular amino acid metabolic process GO:0006520 9.59 ASL OTC
11 cellular response to dexamethasone stimulus GO:0071549 9.58 ARG1 ASS1
12 protein homotrimerization GO:0070207 9.58 ARG1 OTC
13 cellular response to glucagon stimulus GO:0071377 9.58 ARG1 ASS1 CPS1
14 response to growth hormone GO:0060416 9.56 ASS1 CPS1
15 citrulline biosynthetic process GO:0019240 9.54 CPS1 OTC
16 arginine biosynthetic process via ornithine GO:0042450 9.51 ASL OTC
17 response to amine GO:0014075 9.5 ARG1 ASS1 CPS1
18 cellular response to oleic acid GO:0071400 9.49 ASS1 CPS1
19 anion homeostasis GO:0055081 9.46 CPS1 OTC
20 response to zinc ion GO:0010043 9.46 ARG1 ASS1 CPS1 OTC
21 midgut development GO:0007494 9.43 ASS1 CPS1 OTC
22 arginine biosynthetic process GO:0006526 9.35 ASL ASS1 CPS1 NAGS OTC
23 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....