UCD
MCID: URC002
MIFTS: 51

Urea Cycle Disorder (UCD) malady

Genetic diseases, Rare diseases, Endocrine diseases, Muscle diseases categories
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Summaries for Urea Cycle Disorder

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Urea Cycle Disorder, also known as urea cycle disorders, is related to argininosuccinic aciduria and ornithine carbamoyltransferase deficiency. An important gene associated with Urea Cycle Disorder is NAGS (N-acetylglutamate synthase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds benzoate and Canavaninosuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and liver, and related mouse phenotypes are growth/size/body and integument.

Disease Ontology:8 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:65 A urea cycle disorder or urea cycle defect is a genetic disorder caused by a deficiency of one of the... more...

GeneReviews summary for ucd-overview

Aliases & Classifications for Urea Cycle Disorder

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 31LifeMap Discovery™, 62UMLS, 27ICD9CM, 58SNOMED-CT, 40NCIt, 35MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Muscle diseases


Aliases & Descriptions:

urea cycle disorder 8 10 31
urea cycle disorders 19 43 20
disorder of urea cycle metabolism 8 22
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia 8
thyroid hormone plasma membrane transport defect 62
tibial muscular dystrophy, tardive 62
urea cycle disorders, inborn 62
tibial muscular dystrophy 62
urea cycle defect 8
ucd 43


External Ids:

Disease Ontology8 DOID:9267
ICD9CM27 270.6
NCIt40 C84785
SNOMED-CT58 36444000
MeSH35 D056806
ICD1025 E72.2

Related Diseases for Urea Cycle Disorder

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Urea Cycle Disorder:



Diseases related to urea cycle disorder

Symptoms for Urea Cycle Disorder

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Drugs & Therapeutics for Urea Cycle Disorder

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
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Drug clinical trials:

Search ClinicalTrials for Urea Cycle Disorder

Search NIH Clinical Center for Urea Cycle Disorder

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Urea Cycle Disorder cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Urea Cycle Disorder:
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Promethera
Embryonic/Adult Cultured Cells Related to Urea Cycle Disorder:
Hepatocytes
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053

Genetic Tests for Urea Cycle Disorder

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20GeneTests, 22GTR
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Genetic tests related to Urea Cycle Disorder:

id Genetic test Affiliating Genes
1 Urea Cycle Disorders20
2 Disorder of the Urea Cycle Metabolism22

Anatomical Context for Urea Cycle Disorder

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33MalaCards
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MalaCards organs/tissues related to Urea Cycle Disorder:

33
Brain, Thyroid, Liver

Animal Models for Urea Cycle Disorder or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Urea Cycle Disorder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1OTC, ASL, ASS1, NAGS
2MP:00107718.0OTC, ASL, ASS1, NAGS
3MP:00053867.8NAGS, ASS1, ASL, OTC

Publications for Urea Cycle Disorder

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52PubMed
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Articles related to Urea Cycle Disorder:

(show all 42)
idTitleAuthorsYear
1
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
2
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. (22961727)
2013
3
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
4
Urea cycle disorder drug approved. (23563410)
2013
5
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. (22403018)
2012
6
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. (22685855)
2012
7
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. (22099885)
2012
8
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. (22402328)
2012
9
Urea cycle disorder--argininosuccinic lyase deficiency. (22784324)
2012
10
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. (21642480)
2011
11
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. (19684305)
2010
12
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. (20025860)
2010
13
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. (20142522)
2010
14
New insights in nutritional management and amino acid supplementation in urea cycle disorders. (20299258)
2010
15
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. (18516804)
2008
16
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. (17436013)
2008
17
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. (18209596)
2008
18
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. (18562231)
2008
19
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. (17621492)
2007
20
Presentation of an acquired urea cycle disorder post liver transplantation. (18044746)
2007
21
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. (17765814)
2007
22
Urea cycle disorders in adult patients]. (18033025)
2007
23
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. (15798789)
2005
24
Considerations in the difficult-to-manage urea cycle disorder patient. (16227112)
2005
25
Brain glutamine by MRS in a patient with urea cycle disorder and coma. (15664780)
2005
26
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
27
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. (15050979)
2004
28
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. (12777539)
2003
29
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
30
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. (12812952)
2003
31
Urea cycle disorders in Thai infants: a report of 5 cases. (12403252)
2002
32
Long-term correction of urea cycle disorders. (11148551)
2001
33
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. (9686352)
1998
34
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. (7773204)
1995
35
Molecular basis of urea cycle disorders]. (8464164)
1993
36
Plasma glutamine concentration: a guide in the management of urea cycle disorders. (1640294)
1992
37
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. (2012137)
1991
38
Prospective treatment of urea cycle disorders. (1720458)
1991
39
A case study: urea cycle disorder. (1886557)
1991
40
Urea cycle disorder in C3H-H-2 degree mice with juvenile steatosis of viscera. (2298291)
1990
41
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
42
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

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Expression for genes affiliated with Urea Cycle Disorder

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Urea Cycle Disorder

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Pathways for genes affiliated with Urea Cycle Disorder

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 55Reactome
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Pathways related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ASL, ASS1
29.1ASL, ASS1
3
Show member pathways
glutamate biosynthesis II38
arginine biosynthesis IV38
8.5ASS1, ASL, OTC
4
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.1NAGS, ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
8.1OTC, ASL, ASS1, NAGS
6
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
7.1OTC, SLC25A15, SLC25A2, ASL, ASS1, NAGS
7
Show member pathways
7.1NAGS, ASS1, ASL, SLC25A2, SLC25A15, OTC

Compounds for genes affiliated with Urea Cycle Disorder

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45Novoseek, 24HMDB, 51PharmGKB, 29IUPHAR, 11DrugBank, 3BitterDB
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Compounds related to Urea Cycle Disorder according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1benzoate459.7OTC, NAGS
2Canavaninosuccinate249.4ASL, ASS1
3argininosuccinic acid45 2410.4ASL, ASS1
4guanidinoacetate459.4ASS1, ASL
5malate459.3OTC, ASL
6sodium phenylbutyrate519.3ASS1, OTC
7l-arginine29 24 1111.3ASL, ASS1
8delta(1)pyrroline-5-carboxylate459.3ASS1, OTC
9n-acetylglutamate459.3OTC, ASL, NAGS
10l-citrulline29 1110.3OTC, ASS1
11l-ornithine29 1110.2OTC, SLC25A15, SLC25A2
12pyruvate459.0OTC, ASS1
13phosphoenolpyruvate45 119.9OTC, ASS1
14ammonium458.8ASS1, ASL, OTC
15citrulline45 249.8OTC, ASL, ASS1
16creatinine458.6OTC, ASL, ASS1
17aspartate458.6ASS1, ASL, OTC
18sodium benzoate51 39.5NAGS, ASS1, ASL, OTC
19phenylacetic acid51 45 2410.5NAGS, ASS1, ASL, OTC
20carbamoyl phosphate458.5OTC, ASL, ASS1, NAGS
21arginine458.3NAGS, ASS1, ASL, OTC
22glutamate458.3NAGS, ASS1, ASL, OTC
23nitric oxide45 24 1110.2ASS1, ASL, OTC
24urea45 24 1110.0NAGS, ASS1, ASL, SLC25A15, OTC
25ornithine45 248.5OTC, SLC25A15, SLC25A2, ASL, ASS1, NAGS

GO Terms for genes affiliated with Urea Cycle Disorder

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16Gene Ontology
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Cellular components related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.4OTC, NAGS
2mitochondrial inner membraneGO:0057438.6OTC, SLC25A15, SLC25A2

Biological processes related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065268.3OTC, ASS1, NAGS
2urea cycleGO:0000507.1OTC, SLC25A15, SLC25A2, ASL, ASS1, NAGS
3small molecule metabolic processGO:0442817.1ASS1, ASL, SLC25A2, SLC25A15, OTC, NAGS
4cellular nitrogen compound metabolic processGO:0346417.0NAGS, ASS1, ASL, SLC25A2, SLC25A15, OTC

Products for genes affiliated with Urea Cycle Disorder

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Urea Cycle Disorder

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet