UCD
MCID: URC002
MIFTS: 51

Urea Cycle Disorder (UCD) malady

Categories: Rare diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Urea Cycle Disorder

Aliases & Descriptions for Urea Cycle Disorder:

Name: Urea Cycle Disorder 38 12 14
Urea Cycle Disorders 23 50 24
Disorder of Urea Cycle Metabolism 12 29
Urea Cycle Disorders, Inborn 42 69
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 12
Urea Cycle Defect 12
Ucd 50

Classifications:



External Ids:

Disease Ontology 12 DOID:9267
ICD10 33 E72.2 E72.20
ICD9CM 35 270.6
MeSH 42 D056806
NCIt 47 C84785
SNOMED-CT 64 36444000
UMLS 69 C0154246

Summaries for Urea Cycle Disorder

NIH Rare Diseases : 50 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, is related to argininosuccinic aciduria and citrullinemia. 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 mortality/aging

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 : 71 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 38)
id Related Disease Score Top Affiliating Genes
1 argininosuccinic aciduria 11.9
2 citrullinemia 11.5
3 ornithine transcarbamylase deficiency 11.5
4 argininemia 11.2
5 unicentric castleman disease 11.1
6 carbamoylphosphate synthetase i deficiency 11.1
7 n-acetylglutamate synthase deficiency 11.1
8 citrullinemia, adult-onset type ii 11.0
9 malignant cardiac peripheral nerve sheath neoplasm 10.1 ASS1 OTC
10 osteopetrosis, autosomal recessive 2 10.1 OTC SLC25A15
11 ichthyosis, congenital, autosomal recessive 1 10.1 ASL ASS1
12 c syndrome 10.1 ASL ASS1 OTC
13 hyperammonemia 10.1
14 plasminogen activator inhibitor-1 deficiency 10.1 ASS1 SLC25A13
15 encephalopathy 10.0
16 histiocytoid hemangioma 10.0 OTC SLC25A13
17 aneurysm, intracranial berry, 1 9.9 ASL ASS1 NAGS OTC
18 chromosome xp21 deletion syndrome 9.9 ASL ASS1 CPS1 OTC
19 pulmonary hypertension, neonatal 9.9 ASS1 CPS1 NAGS OTC
20 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ACADVL ASS1 OTC
21 cystinosis, ocular nonnephropathic 9.9 ACADVL SLC25A13
22 hepatic encephalopathy 9.9
23 hepatitis 9.9
24 dysgammaglobulinemia 9.9
25 carnitine acetyltransferase deficiency 9.8 ASL ASS1 OTC SLC25A13
26 fibular hypoplasia 9.8 ACADVL SLC25A13
27 obesity, morbid, due to leptin receptor deficiency 9.8 ACADVL OTC
28 atrial fibrillation, familial, 4 9.8 ACADVL SLC25A13
29 cardiomyopathy, dilated, 1j 9.8 ARG1 ASL ASS1 NAGS OTC
30 ifih1-related aicardi-goutieres syndrome 9.8 ASL CPS1 NAGS OTC SLC25A15
31 inherited metabolic disorder 9.7
32 homocystinuria 9.7
33 orotic aciduria 9.7
34 postpartum psychosis 9.7
35 lysinuric protein intolerance 9.7
36 pulmonary hypertension 9.7
37 metabolic acidosis 9.7
38 waldenstrom macroglobulinemia 8.7 ACADVL ARG1 ASL ASS1 CPS1 NAGS

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ACADVL ARG1 ASL ASS1 CPS1 NAGS
2 mortality/aging MP:0010768 9.23 CPS1 NAGS OTC SLC25A13 ACADVL ARG1

Drugs & Therapeutics for Urea Cycle Disorder

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

(show top 50) (show all 204)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Experimental Phase 4,Phase 3,Phase 2,Phase 1 56-81-5 753
2
Heparin Approved, Investigational Phase 4,Phase 1 9005-49-6 772 46507594
3
Bevacizumab Approved, Investigational Phase 4,Phase 2 216974-75-3
4
Capecitabine Approved, Investigational Phase 4 154361-50-9 60953
5
Oxaliplatin Approved, Investigational Phase 4,Phase 2 61825-94-3 5310940 9887054 6857599, 9887054 43805
6 Angiogenesis Inhibitors Phase 4,Phase 2
7 Angiogenesis Modulating Agents Phase 4,Phase 2
8 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1
9 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
10 calcium heparin Phase 4,Phase 1
11 Hypoglycemic Agents Phase 4,Early Phase 1
12 insulin Phase 4
13 Insulin, Globin Zinc Phase 4
14 Antimetabolites Phase 4,Phase 2,Phase 1
15 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1
16 Cola Nutraceutical Phase 4,Phase 2,Phase 1
17
Acetylcholine Approved Phase 3 51-84-3 187
18 abobotulinumtoxinA Phase 3
19 Botulinum Toxins Phase 3
20 Botulinum Toxins, Type A Phase 3
21 Cholinergic Agents Phase 3
22 incobotulinumtoxinA Phase 3
23 Neuromuscular Agents Phase 3
24 Neurotransmitter Agents Phase 3
25 onabotulinumtoxinA Phase 3
26 Peripheral Nervous System Agents Phase 3,Phase 2
27 glutamine Nutraceutical Phase 3,Phase 2
28
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
29
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
30
Nitric Oxide Approved Phase 2 10102-43-9 145068
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
32
Phenylacetic acid Approved Phase 2,Phase 1 103-82-2 23690424 999
33
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
34
Mitoxantrone Approved, Investigational Phase 2 65271-80-9 4212
35
rituximab Approved Phase 2 174722-31-7 10201696
36
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
37
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
38
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
39
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
40
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
41
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
42
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
43
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
44
Mycophenolic acid Approved Phase 2 24280-93-1 446541
45
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
46
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
47
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
48
Gemcitabine Approved Phase 2 95058-81-4 60750
49
Fluorouracil Approved Phase 2 51-21-8 3385
50
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062

Interventional clinical trials:

(show top 50) (show all 104)
id Name Status NCT ID Phase
1 Enhancing Dialysis Adequacy: Effects of Intradialytic Exercise Unknown status NCT01481688 Phase 4
2 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4
3 Mechanism of Fatty Acid-induced Impairment of Glucose-simulated Insulin Secretion - Effect of Buphenyl Completed NCT00533559 Phase 4
4 OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum. Completed NCT00577031 Phase 4
5 The Clinical Effects of Korean Adapted APD in Automated Peritoneal Dialysis Patients Completed NCT01997385 Phase 4
6 Efficacy and Safety of Runzao Zhiyang Capsule to Treat Chronic Eczema Recruiting NCT02601222 Phase 4
7 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs) Active, not recruiting NCT02246218 Phase 4
8 Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3
9 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3
10 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3
11 Dysport® Adult Upper Limb Spasticity Extension Study Completed NCT01313312 Phase 3
12 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Recruiting NCT00843921 Phase 2, Phase 3
13 Caroverin and Inner Ear Diseases Suspended NCT01174979 Phase 3
14 Investigating Project of the Functional C13 Test "Pilot Study" Unknown status NCT01560897 Phase 1, Phase 2
15 Trial of E10A in Head and Neck Cancer Unknown status NCT00634595 Phase 2
16 Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders Completed NCT00551200 Phase 2
17 Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders Completed NCT00947544 Phase 2
18 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
19 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
20 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2
21 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2
22 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
23 Chemotherapy Toxicity Reduction Via Urea Cycle Support Completed NCT00223730 Phase 2
24 Study to Evaluate the Efficacy and Safety of Subsequent Treatment With the Zevalin (Ibritumomab Tiuxetan) Study in Patients With Follicular Grade I-II Lymphoma After 4 Cycles of Fludarabine-Mitoxantrone-Rituximab (FMR) Therapy Completed NCT00859001 Phase 2
25 Study to Evaluate the Efficacy and Safety of Subsequent Treatment With the Zevalin (Ibritumomab Tiuxetan) in Elderly (More Than 60 Years) Patients With Diffuse Large B Cell Lymphoma After 4 Cycles of CHOP21-Rituximab (CHOP21-R) Therapy Completed NCT00850512 Phase 2
26 A Phase II Study of BAY 43-9006 (Sorafenib) in Metastatic, Androgen-Independent Prostate Cancer Completed NCT00090545 Phase 2
27 Safety and Efficacy Study of Iodine-131 Anti-B1 Antibody Plus CHOP For Untreated Mantle Cell Lymphoma Completed NCT00992992 Phase 2
28 BAY 43-9006 (Sorafenib) to Treat Relapsed Non-Small Cell Lung Cancer Completed NCT00098254 Phase 2
29 Rapamycin and Regulatory T Cells in Kidney Transplantation Completed NCT01014234 Phase 2
30 Open Label Multicenter Study of CVP Followed by Iodine-131 Anti-B1 Antibody for Subjects With Untreated Low-Grade Non Hodgkin's Lymphoma. Completed NCT01663714 Phase 2
31 Phase II Bevacizumab, Gemcitabine and Carboplatin in Newly Diagnosed Non-Small Cell Lung Cancer Completed NCT00323869 Phase 2
32 Study of Safety and Efficacy of a Sequential Regimen Consisting of Three Cycles of Fludarabine Followed by Tositumomab and Iodine I 131 Tositumomab Completed NCT00933335 Phase 2
33 PEAK: Panitumumab Plus mFOLFOX6 vs. Bevacizumab Plus mFOLFOX6 for First Line Treatment of Metastatic Colorectal Cancer (mCRC) Patients With Wild-Type Kirsten Rat Sarcoma-2 Virus (KRAS) Tumors Completed NCT00819780 Phase 2
34 Depsipeptide to Treat Patients With Cutaneous T-Cell Lymphoma and Peripheral T-Cell Lymphoma Completed NCT00007345 Phase 2
35 A Study of AMG 951 [rhApo2L/TRAIL] in Subjects With Previously Untreated Non-Small Cell Lung Cancer (NSCLC) Treated With Chemotherapy +/- Bevacizumab Completed NCT00508625 Phase 2
36 SOFIA-LTT Study: A Study of Intermittent Long Term Treatment With PEGASYS (Peginterferon Alfa-2a (40KD)) in Patients With HBeAg Negative Chronic Hepatitis B (CHB). Completed NCT00442572 Phase 2
37 Cetuximab Plus Conformal Thoracic Radiotherapy in Patients (Pts) With Inoperable or Unresectable Locally Advanced Non-Small Cell Lung Cancer (LA - NSCLC) Completed NCT00673738 Phase 2
38 Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002) Recruiting NCT02489292 Phase 2
39 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315 Phase 2
40 Manipulating the Gut Microbiome Study Recruiting NCT03181828 Phase 1, Phase 2
41 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency Recruiting NCT02991144 Phase 1, Phase 2
42 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Recruiting NCT02488044 Phase 1, Phase 2
43 Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2
44 A Study to Detect V-Raf Murine Sarcoma Viral Oncogene Homolog B1 (BRAF) V600 Mutation on Cell-Free Deoxyribonucleic Acid (cfDNA) From Plasma in Participants With Advanced Melanoma Recruiting NCT02768207 Phase 2
45 Study of Baricitinib, a JAK1/2 Inhibitor, in Chronic Graft-Versus-Host Disease After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT02759731 Phase 1, Phase 2
46 Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2
47 FLT3 Ligand Immunotherapy and Stereotactic Radiotherapy for Advanced Non-small Cell Lung Cancer Recruiting NCT02839265 Phase 2
48 Trial of Oral Glutamine on Mitochondrial Function in CKD Recruiting NCT02838979 Phase 2
49 Monoclonal Antibody 3F8 and Sargramostim in Treating Patients With Neuroblastoma Active, not recruiting NCT00072358 Phase 2
50 Phase II Study of Decitabine and Cytarabine for Older Patients With Newly Diagnosed Acute Myeloid Leukemia (AML) Active, not recruiting NCT01829503 Phase 2

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:

id Genetic test Affiliating Genes
1 Disorder of the Urea Cycle Metabolism 29
2 Urea Cycle Disorders 24

Anatomical Context for Urea Cycle Disorder

MalaCards organs/tissues related to Urea Cycle Disorder:

39
Liver, Brain, Kidney

Publications for Urea Cycle Disorder

Articles related to Urea Cycle Disorder:

(show top 50) (show all 56)
id 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
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. ( 28281899 )
2017
3
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( 28302489 )
2017
4
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 27377837 )
2016
5
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. ( 26776297 )
2015
6
Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. ( 25968590 )
2015
7
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder. ( 26130895 )
2015
8
ERRATUM: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25941762 )
2015
9
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
10
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction. ( 26654615 )
2015
11
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. ( 24985015 )
2014
12
Diagnosis and treatment of urea cycle disorder in Japan. ( 25039902 )
2014
13
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. ( 25503497 )
2014
14
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. ( 22961727 )
2013
15
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
16
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
17
Urea cycle disorder drug approved. ( 23563410 )
2013
18
Urea cycle disorder--argininosuccinic lyase deficiency. ( 22784324 )
2012
19
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. ( 22403018 )
2012
20
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. ( 22685855 )
2012
21
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. ( 22099885 )
2012
22
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. ( 22402328 )
2012
23
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. ( 21642480 )
2011
24
New insights in nutritional management and amino acid supplementation in urea cycle disorders. ( 20299258 )
2010
25
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. ( 20025860 )
2010
26
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
27
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. ( 19684305 )
2010
28
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. ( 18562231 )
2008
29
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. ( 17436013 )
2008
30
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. ( 18209596 )
2008
31
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. ( 18516804 )
2008
32
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. ( 17621492 )
2007
33
Presentation of an acquired urea cycle disorder post liver transplantation. ( 18044746 )
2007
34
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. ( 17765814 )
2007
35
[Urea cycle disorders in adult patients]. ( 18033025 )
2007
36
Brain glutamine by MRS in a patient with urea cycle disorder and coma. ( 15664780 )
2005
37
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
38
Considerations in the difficult-to-manage urea cycle disorder patient. ( 16227112 )
2005
39
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. ( 15798789 )
2005
40
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. ( 15050979 )
2004
41
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
42
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. ( 12777539 )
2003
43
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. ( 12812952 )
2003
44
Urea cycle disorders in Thai infants: a report of 5 cases. ( 12403252 )
2002
45
Long-term correction of urea cycle disorders. ( 11148551 )
2001
46
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( 9686352 )
1998
47
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( 7773204 )
1995
48
[Molecular basis of urea cycle disorders]. ( 8464164 )
1993
49
Urea Cycle Disorders Overview ( 20301396 )
1993
50
Plasma glutamine concentration: a guide in the management of urea cycle disorders. ( 1640294 )
1992

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ACADVL ARG1 ASL ASS1 CPS1 NAGS
2
Show member pathways
13.38 ARG1 ASL ASS1 CPS1 NAGS OTC
3
Show member pathways
11.95 ARG1 ASL ASS1 CPS1 NAGS OTC
4 11.58 ARG1 ASS1 CPS1 OTC
5 11.09 ASL ASS1 CPS1
6
Show member pathways
10.94 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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADVL CPS1 NAGS OTC
2 mitochondrial inner membrane GO:0005743 9.35 ACADVL CPS1 OTC SLC25A13 SLC25A15
3 mitochondrial nucleoid GO:0042645 9.26 ACADVL CPS1
4 mitochondrion GO:0005739 9.17 ACADVL ASS1 CPS1 NAGS OTC SLC25A13

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.72 ARG1 CPS1 OTC
2 liver development GO:0001889 9.61 ARG1 CPS1 OTC
3 cellular response to glucagon stimulus GO:0071377 9.54 ARG1 CPS1
4 response to amino acid GO:0043200 9.52 ARG1 CPS1
5 response to steroid hormone GO:0048545 9.51 ARG1 CPS1
6 cellular amino acid biosynthetic process GO:0008652 9.5 ASL ASS1 OTC
7 protein homotrimerization GO:0070207 9.49 ARG1 OTC
8 nitrogen compound metabolic process GO:0006807 9.48 CPS1 UPB1
9 response to amine GO:0014075 9.46 ARG1 CPS1
10 response to zinc ion GO:0010043 9.43 ARG1 CPS1 OTC
11 midgut development GO:0007494 9.4 CPS1 OTC
12 citrulline biosynthetic process GO:0019240 9.37 CPS1 OTC
13 arginine biosynthetic process GO:0006526 9.26 ASL ASS1 NAGS OTC
14 urea cycle GO:0000050 9.17 ARG1 ASL ASS1 CPS1 NAGS OTC
15 anion homeostasis GO:0055081 9.16 CPS1 OTC

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

id 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
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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