UCD
MCID: URC002
MIFTS: 51

Urea Cycle Disorder (UCD) malady

Metabolic diseases, Endocrine diseases, Muscle diseases categories

Summaries for Urea Cycle Disorder

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 ornithine carbamoyltransferase deficiency and argininosuccinic aciduria. An important gene associated with Urea Cycle Disorder is OTC (ornithine carbamoyltransferase), and among its related pathways are Alanine, aspartate and glutamate metabolism and glutamine degradation I. The compounds benzoate and argininosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and liver.

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:63 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, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 30LifeMap Discovery™, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

urea cycle disorder 8 10 30
urea cycle disorders 19 42 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 60
tibial muscular dystrophy, tardive 60
urea cycle disorders, inborn 60
tibial muscular dystrophy 60
urea cycle defect 8
ucd 42


External Ids:

Disease Ontology8 DOID:9267
ICD9CM27 270.6
MeSH34 D056806
SNOMED-CT56 36444000
NCIt39 C84785
ICD1025 E72.2

Related Diseases for Urea Cycle Disorder

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17GeneCards, 18GeneDecks
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Diseases related to Urea Cycle Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1ornithine carbamoyltransferase deficiency30.5OTC
2argininosuccinic aciduria30.5OTC, ASL
3citrullinemia30.5SLC25A13, OTC, ASS1, ASL
4carbamoyl phosphate synthetase i deficiency disease30.4OTC, NAGS
5hepatitis30.4ASL, OTC
6hyperargininemia30.4ASL, ASS1, OTC
7hepatic encephalopathy30.4SLC25A13, ASS1
8adult-onset citrullinemia type ii30.4SLC25A13, ASS1
9lysinuric protein intolerance30.2ASL, ASS1, OTC
10hyperammonemia multi-gene panels30.1NAGS, SLC25A13, SLC25A15, OTC, ASS1, ASL
11udd distal myopathy10.7
12thyroid hormone plasma membrane transport defect10.6
13distal myopathy markesbery-griggs type10.5
14muscular dystrophy10.5
15patent foramen ovale10.4
16glanzmann's thrombasthenia10.4
17takayasu's arteritis10.4
18atrioventricular septal defect10.4
19congenital diaphragmatic hernia10.4
20atrial heart septal defect10.4
21congenital heart defect10.4
22hereditary folate malabsorption10.4
23zap70-related severe combined immunodeficiency10.4
24acro-pectoro-renal field defect10.4
25ankle defects short stature10.4
26axial mesodermal dysplasia spectrum10.4
27branchial arch defects10.4
28cardioskeletal syndrome kuwaiti type10.4
29sacral defect with anterior meningocele10.4
30caudal regression syndrome10.4
31chylomicron retention disease10.4
32x-linked creatine deficiency10.4
33cystinosis, ocular nonnephropathic10.4
34hmg coa lyase deficiency10.4
35imerslund-grasbeck syndrome10.4
36defective apolipoprotein b-10010.4
37diaphragmatic hernia upper limb defects10.4
38peroxisome disorders10.4
39heart defect, tongue hamartoma and polysyndactyly10.4
40hermansky pudlak syndrome 210.4
41heterotaxy10.4
42red cell phospholipid defect with hemolysis10.4
43hyperthermia induced defects10.4
44lateral body wall defect10.4
45laterality defects dominant10.4
46limb reduction defect10.4
47overgrowth radial ray defect arthrogryposis10.4
48paraomphalocele10.4
49reductional transverse limb defects10.4
50renal agenesis meningomyelocele mullerian defect10.4

Graphical network of the top 20 diseases related to Urea Cycle Disorder:



Diseases related to urea cycle disorder

Clinical Features for Urea Cycle Disorder

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Drugs & Therapeutics for Urea Cycle Disorder

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Urea Cycle Disorder

Drug clinical trials:

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Search NIH Clinical Center for Urea Cycle Disorder

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Urea Cycle Disorder:

32
Brain, Thyroid, Liver

Animal Models for Urea Cycle Disorder or affiliated genes

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Publications for Urea Cycle Disorder

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50PubMed
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Articles related to Urea Cycle Disorder:

(show all 43)
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
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. (10869432)
2000
34
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. (9686352)
1998
35
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. (7773204)
1995
36
Molecular basis of urea cycle disorders]. (8464164)
1993
37
Plasma glutamine concentration: a guide in the management of urea cycle disorders. (1640294)
1992
38
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. (2012137)
1991
39
Prospective treatment of urea cycle disorders. (1720458)
1991
40
A case study: urea cycle disorder. (1886557)
1991
41
Urea cycle disorder in C3H-H-2 degree mice with juvenile steatosis of viscera. (2298291)
1990
42
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
43
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

Genetic Variations for Urea Cycle Disorder

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Expression for genes affiliated with Urea Cycle Disorder

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1BioGPS, 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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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Urea Cycle Disorder

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Urea Cycle Disorder according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1benzoate4410.1OTC, NAGS
2argininosuccinic acid44 2411.0ASL, ASS1
3guanidinoacetate4410.0ASS1, ASL
4delta(1)pyrroline-5-carboxylate4410.0OTC, ASS1
5l-citrulline28 1111.0ASS1, OTC
6phosphoenolpyruvate44 1110.8ASS1, OTC
7n-acetylglutamate449.8ASL, OTC, NAGS
8l-arginine28 11 2411.8ASL, ASS1
9ammonium449.7OTC, ASS1, ASL
10L-Aspartic Acid11 2410.7ASS1, SLC25A13
11malate449.6ASL, OTC
12l-ornithine28 1110.5OTC, SLC25A2, SLC25A15
13sodium benzoate49 210.5NAGS, OTC, ASS1, ASL
14phenylacetic acid49 44 2411.5NAGS, OTC, ASS1, ASL
15carbamoyl phosphate449.4ASL, ASS1, OTC, NAGS
16citrulline44 2410.3SLC25A13, OTC, ASS1, ASL
17aspartate449.1SLC25A13, OTC, ASS1, ASL
18arginine449.0NAGS, OTC, ASS1, ASL
19glutamate448.9NAGS, SLC25A13, OTC, ASS1, ASL
20urea44 11 2410.6NAGS, SLC25A13, SLC25A15, OTC, ASS1, ASL
21ornithine44 249.5ASL, ASS1, OTC, SLC25A2, SLC25A15, 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 proton-transporting ATP synthase complexGO:0057538.5ATP5G3, ATP5G1, ATP5G2
2proton-transporting ATP synthase complex, coupling factor F(o)GO:0452638.4ATP5G3, ATP5G1, ATP5G2
3mitochondrial inner membraneGO:0057437.9ATP5G1, SLC25A13, SLC25A15, SLC25A2, OTC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.5NAGS, OTC, ASS1
2mitochondrial ornithine transportGO:0000669.2SLC25A2, SLC25A15
3ATP synthesis coupled proton transportGO:0159869.1ATP5G3, ATP5G2
4ATP hydrolysis coupled proton transportGO:0159918.4ATP5G2, ATP5G1, ATP5G3
5urea cycleGO:0000508.4ASL, ASS1, OTC, SLC25A2, SLC25A15, NAGS
6cellular nitrogen compound metabolic processGO:0346418.3NAGS, SLC25A15, SLC25A2, OTC, ASS1, ASL
7small molecule metabolic processGO:0442817.1ATP5G1, NAGS, SLC25A13, SLC25A15, SLC25A2, OTC

Molecular functions related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1L-ornithine transmembrane transporter activityGO:0000649.2SLC25A2, SLC25A15
2hydrogen ion transmembrane transporter activityGO:0150788.5ATP5G3, ATP5G1, ATP5G2
3lipid bindingGO:0082898.5ATP5G3, ATP5G1, ATP5G2
4transporter activityGO:0052158.0ATP5G2, ATP5G1, ATP5G3, SLC25A13

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet