OTCD
MCID: ORN003
MIFTS: 65

Ornithine Carbamoyltransferase Deficiency (OTCD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Ornithine Carbamoyltransferase Deficiency

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Ornithine transcarbamylase (otc) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. the nervous system is especially sensitive to the effects of excess ammonia. mutations in the otc gene cause otc deficiency. otc deficiency is an x-linked disorder. last updated: 6/3/2011

MalaCards: Ornithine Carbamoyltransferase Deficiency, also known as ornithine transcarbamylase deficiency, is related to hepatitis and carbamoyl phosphate synthetase i deficiency disease, and has symptoms including hyperammonemia, gastric/pyloric stenosis and hepatocellular liver disease/hepatic failure. An important gene associated with Ornithine Carbamoyltransferase Deficiency is OTC (ornithine carbamoyltransferase), and among its related pathways are Carbon metabolism and Arginine and proline metabolism. The compounds sodium phenylbutyrate and n-acetylglutamate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

Disease Ontology:8 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Genetics Home Reference:21 Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Wikipedia:65 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

Description from OMIM:47 311250

GeneReviews summary for otc-def

Aliases & Classifications for Ornithine Carbamoyltransferase Deficiency

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discoveryâ„¢, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
ornithine carbamoyltransferase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

ornithine carbamoyltransferase deficiency 8 19 43 22 10 49 31 62
ornithine transcarbamylase deficiency 8 9 19 43 21 47 45 49
ornithine carbamoyltransferase deficiency disease 21 45
ornithine transcarbamylase 9 20
otc deficiency 19 43
deficiency of citrulline phosphorylase 8
oct deficiency 49
otc deficency 49
otcd 43


External Ids:

Disease Ontology8 DOID:9271
OMIM47 311250
MeSH35 D020163
SNOMED-CT58 124249000, 80908008
MESH via Orphanet36 D020163
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet59 80908008
UMLS via Orphanet63 C0268542

Related Diseases for Ornithine Carbamoyltransferase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Ornithine Carbamoyltransferase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.5CPS1, OTC
2carbamoyl phosphate synthetase i deficiency disease30.5OTC, CPS1
3propionic acidemia30.2HMGCL, UPB1, OTC
4cerebritis10.5
5acrodermatitis10.4
6acrodermatitis enteropathica10.4
7enteropathica10.4
8alzheimer's disease10.4
9attention deficit hyperactivity disorder10.3
10acute pancreatitis10.3
11orotic aciduria10.3
12alkaptonuria10.3
13neuroblastoma10.3
14pancreatitis10.3
15chorea10.3
16acute liver failure10.3
17status epilepticus10.3
18congenital adrenal hyperplasia10.3
19hyperargininemia10.3
20retinitis pigmentosa10.3
21duchenne muscular dystrophy10.3
22type 1 diabetes mellitus10.3
23argininosuccinic aciduria10.3
24chronic granulomatous disease10.3
25adenosine deaminase deficiency10.3
26brain edema10.3
27diabetes mellitus10.3
28encephalomalacia10.3
29hypertension10.3
30influenza10.3
31intracranial hypertension10.3
32muscular dystrophy10.3
33retinitis10.3
34urea cycle disorder10.3
35x-linked disease10.3
36ataxia10.3
37hyperlysinemia10.2
38hepatoblastoma10.2
39myeloma10.2
40mental retardation epilepsy10.1
41mental retardation10.1
42cerebral atrophy10.1
43rhyns syndrome10.0DYNLT3, OTC
44reye syndrome10.0OTC, HMGCL
45methylmalonic acidemia10.0OTC, HMGCL
46maple syrup urine disease10.0OTC, HMGCL
47homocystinuria10.0HMGCL, OTC
48metabolic syndrome x10.0CPS1, OTC
49hyperammonemia multi-gene panels9.9OTC, UPB1, CPS1, HMGCL

Graphical network of the top 20 diseases related to Ornithine Carbamoyltransferase Deficiency:



Diseases related to ornithine carbamoyltransferase deficiency

Symptoms for Ornithine Carbamoyltransferase Deficiency

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Symptoms:

49 (show all 7)
  • hyperammonemia
  • gastric/pyloric stenosis
  • hepatocellular liver disease/hepatic failure
  • hypoglycemia
  • aminoacid metabolism anomalies/aminoaciduria
  • splenomegaly
  • storage liver disease

Drugs & Therapeutics for Ornithine Carbamoyltransferase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discoveryâ„¢, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Ornithine Carbamoyltransferase Deficiency

Search NIH Clinical Center for Ornithine Carbamoyltransferase Deficiency

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Ornithine Carbamoyltransferase Deficiency:
Hepatocyte transplantation for treatment of liver disorders
Promethera
Embryonic/Adult Cultured Cells Related to Ornithine Carbamoyltransferase Deficiency:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053

Genetic Tests for Ornithine Carbamoyltransferase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Ornithine Carbamoyltransferase Deficiency:

id Genetic test Affiliating Genes
1 Ornithine Transcarbamylase Deficiency20 OTC
2 Ornithine Carbamoyltransferase Deficiency22

Anatomical Context for Ornithine Carbamoyltransferase Deficiency

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Sources:
31LifeMap Discoveryâ„¢, 33MalaCards
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MalaCards organs/tissues related to Ornithine Carbamoyltransferase Deficiency:

33
Liver, Testes, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Ornithine Carbamoyltransferase Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate

Animal Models for Ornithine Carbamoyltransferase Deficiency or affiliated genes

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Publications for Ornithine Carbamoyltransferase Deficiency

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Sources:
52PubMed
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Articles related to Ornithine Carbamoyltransferase Deficiency:

(show all 38)
idTitleAuthorsYear
1
A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder. (24199608)
2013
2
Late-onset ornithine carbamoyltransferase deficiency accompanying acute pancreatitis and hyperammonemia. (24073003)
2013
3
Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency. (24142276)
2013
4
Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry. (23085206)
2013
5
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. (22563224)
2012
6
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. (23278509)
2012
7
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. (20127982)
2010
8
Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman. (16435206)
2005
9
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. (12974280)
2003
10
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. (12974275)
2003
11
Neurological outcome of patients with ornithine carbamoyltransferase deficiency. (11806886)
2002
12
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals. (11432394)
2001
13
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. (11596657)
2001
14
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. (11286382)
2001
15
Ornithine carbamoyltransferase deficiency. (11124797)
2001
16
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia. (11804205)
2001
17
Ornithine carbamoyltransferase deficiency presenting with chorea in a female. (11196111)
2000
18
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. (11117428)
2000
19
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. (11117427)
2000
20
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (10070622)
1999
21
Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency. (10388475)
1999
22
Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation. (10399103)
1999
23
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. (9501271)
1998
24
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. (9266354)
1997
25
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. (8750014)
1995
26
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. (8777776)
1995
27
Sudden onset of ornithine carbamoyltransferase deficiency after aspirin ingestion. (8295421)
1993
28
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. (1779634)
1991
29
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity. (1779638)
1991
30
Rett's syndrome and ornithine carbamoyltransferase deficiency. (2122091)
1990
31
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity. (2612006)
1989
32
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. (2795358)
1989
33
Rett's syndrome and ornithine carbamoyltransferase deficiency. (2890926)
1987
34
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events. (3816076)
1987
35
Valproate toxicity and ornithine carbamoyltransferase deficiency. (2878165)
1986
36
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency. (6441862)
1984
37
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. (6823424)
1983
38
Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme. (7389139)
1980

Variations for Ornithine Carbamoyltransferase Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ornithine Carbamoyltransferase Deficiency:

64 (show all 111)
id Symbol AA change Variation ID SNP ID
1OTCp.Arg26GlnVAR_004843
2OTCp.Gly39CysVAR_004844
3OTCp.Arg40CysVAR_004845
4OTCp.Arg40HisVAR_004846
5OTCp.Thr44IleVAR_004848
6OTCp.Leu45ProVAR_004849
7OTCp.Leu45ValVAR_004850
8OTCp.Asn47IleVAR_004852
9OTCp.Gly50ArgVAR_004853
10OTCp.Tyr55AspVAR_004854
11OTCp.Met56ThrVAR_004855
12OTCp.Ser60LeuVAR_004856
13OTCp.Leu63ProVAR_004857
14OTCp.Gly79GluVAR_004858
15OTCp.Gly83AspVAR_004860
16OTCp.Gly83ArgVAR_004861
17OTCp.Glu87LysVAR_004862
18OTCp.Lys88AsnVAR_004863
19OTCp.Ser90ArgVAR_004864
20OTCp.Arg92GlnVAR_004865
21OTCp.Thr93AlaVAR_004866
22OTCp.Arg94ThrVAR_004867
23OTCp.Gly100AspVAR_004868
24OTCp.Ala102GluVAR_004870
25OTCp.His117LeuVAR_004872
26OTCp.His117ArgVAR_004873
27OTCp.Thr125MetVAR_004874
28OTCp.Asp126GlyVAR_004875
29OTCp.Arg129HisVAR_004876
30OTCp.Leu139SerVAR_004877
31OTCp.Arg141ProVAR_004878
32OTCp.Arg141GlnVAR_004879
33OTCp.Leu148PheVAR_004880
34OTCp.Ile159ThrVAR_004881
35OTCp.Asn161SerVAR_004882
36OTCp.Gly162ArgVAR_004883
37OTCp.His168GlnVAR_004884
38OTCp.His168ArgVAR_004885
39OTCp.Ile172MetVAR_004886
40OTCp.Ala174ProVAR_004887
41OTCp.Asp175ValVAR_004888
42OTCp.Tyr176CysVAR_004889
43OTCp.Thr178MetVAR_004890
44OTCp.Gln180HisVAR_004892
45OTCp.Glu181GlyVAR_004893
46OTCp.His182LeuVAR_004894
47OTCp.Tyr183CysVAR_004895
48OTCp.Tyr183AspVAR_004896
49OTCp.Gly188ArgVAR_004897
50OTCp.Ser192ArgVAR_004898
51OTCp.Gly195ArgVAR_004899
52OTCp.Asp196ValVAR_004900
53OTCp.Asp196TyrVAR_004901
54OTCp.Gly197GluVAR_004902
55OTCp.Leu201ProVAR_004903
56OTCp.His202TyrVAR_004904
57OTCp.Ser203CysVAR_004905
58OTCp.Met206ArgVAR_004906
59OTCp.Ser207ArgVAR_004907
60OTCp.Ala208ThrVAR_004908
61OTCp.Ala209ValVAR_004909
62OTCp.Met213LysVAR_004910
63OTCp.Gln216GluVAR_004911
64OTCp.Pro220AlaVAR_004912
65OTCp.Pro225LeuVAR_004913
66OTCp.Pro225ArgVAR_004914
67OTCp.Pro225ThrVAR_004915
68OTCp.Thr242IleVAR_004916
69OTCp.Leu244GlnVAR_004917
70OTCp.Thr247LysVAR_004918
71OTCp.His255ProVAR_004919
72OTCp.Asp263GlyVAR_004920
73OTCp.Asp263AsnVAR_004921
74OTCp.Thr264AlaVAR_004922
75OTCp.Thr264IleVAR_004923
76OTCp.Ser267ArgVAR_004924
77OTCp.Met268ThrVAR_004925
78OTCp.Gly269GluVAR_004926
79OTCp.Arg277GlnVAR_004929
80OTCp.Arg277TrpVAR_004930
81OTCp.His302LeuVAR_004931
82OTCp.His302GlnVAR_004932
83OTCp.His302TyrVAR_004933
84OTCp.Cys303ArgVAR_004934
85OTCp.Cys303TyrVAR_004935
86OTCp.Leu304PheVAR_004936
87OTCp.Arg320LeuVAR_004938
88OTCp.Arg330GlyVAR_004939
89OTCp.Ala336SerVAR_004940
90OTCp.Val337LeuVAR_004941
91OTCp.Val339LeuVAR_004942
92OTCp.Ser340ProVAR_004943
93OTCp.Thr343LysVAR_004944
94OTCp.Tyr345CysVAR_004946
95OTCp.Tyr345AspVAR_004947
96OTCp.Phe354CysVAR_004948
97OTCp.Ile172PheVAR_009233
98OTCp.Gly188ValVAR_009234
99OTCp.Gly197ArgVAR_009235
100OTCp.Ala140ProVAR_010605
101OTCp.Asn198LysVAR_010606
102OTCp.His214TyrVAR_010607
103OTCp.Thr262LysVAR_010608
104OTCp.Trp265LeuVAR_010609
105OTCp.Glu326LysVAR_010610
106OTCp.Ile160SerVAR_012651
107OTCp.Leu191PheVAR_012652
108OTCp.Met206IleVAR_012653
109OTCp.Leu301PheVAR_012654
110OTCp.Pro305HisVAR_012655
111OTCp.Leu341ProVAR_012657

Clinvar genetic disease variations for Ornithine Carbamoyltransferase Deficiency:

1 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1OTCOTC, DELdeletionPathogenic
2OTCNM_000531.5(OTC): c.422G> A (p.Arg141Gln)single nucleotide variantPathogenicrs68026851GRCh37Chr X, 38260563: 38260563
3OTCNM_000531.5(OTC): c.421C> T (p.Arg141Ter)single nucleotide variantPathogenicrs67960011GRCh37Chr X, 38260562: 38260562
4OTCNM_000531.5(OTC): c.332T> C (p.Leu111Pro)single nucleotide variantPathogenicrs1800324GRCh37Chr X, 38240628: 38240628
5OTCNM_000531.5(OTC): c.646C> G (p.Gln216Glu)single nucleotide variantPathogenicrs72558423GRCh37Chr X, 38262976: 38262976
6OTCNM_000531.5(OTC): c.460G> T (p.Glu154Ter)single nucleotide variantPathogenicrs72556267GRCh37Chr X, 38260601: 38260601
7OTCNM_000531.5(OTC): c.134T> C (p.Leu45Pro)single nucleotide variantPathogenicrs72554312GRCh37Chr X, 38226600: 38226600
8OTCNM_000531.5(OTC): c.77G> A (p.Arg26Gln)single nucleotide variantPathogenicrs68031618GRCh37Chr X, 38212026: 38212026
9OTCOTC, ARG245TRPundetermined variantPathogenic
10OTCNM_000531.5(OTC): c.717+2T> Csingle nucleotide variantPathogenicrs72558431GRCh37Chr X, 38268050: 38268050
11OTCOTC, GTA-GTG, INTRON 7undetermined variantPathogenic
12OTCNM_000531.5(OTC): c.387-2A> Tsingle nucleotide variantPathogenicrs66556380GRCh37Chr X, 38260526: 38260526
13OTCNM_000531.5(OTC): c.829C> T (p.Arg277Trp)single nucleotide variantPathogenicrs72558454GRCh37Chr X, 38268240: 38268240
14OTCNM_000531.5(OTC): c.674C> T (p.Pro225Leu)single nucleotide variantPathogenicrs67120076GRCh37Chr X, 38268005: 38268005
15OTCNM_000531.5(OTC): c.259G> A (p.Glu87Lys)single nucleotide variantPathogenicrs72554338GRCh37Chr X, 38229091: 38229091
16OTCNM_000531.5(OTC): c.148G> T (p.Gly50Ter)single nucleotide variantPathogenicrs67486158GRCh37Chr X, 38226614: 38226614
17OTCNM_000531.5(OTC): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs66626662GRCh37Chr X, 38260625: 38260625
18OTCOTC, 1-BP DEL, 403GdeletionPathogenic
19OTCOTC, IVS2, G-A, -1single nucleotide variantPathogenic
20OTCNM_000531.5(OTC): c.236G> A (p.Gly79Glu)single nucleotide variantPathogenicrs72554331GRCh37Chr X, 38229068: 38229068
21OTCNM_000531.5(OTC): c.281G> C (p.Arg94Thr)single nucleotide variantPathogenicrs72554345GRCh37Chr X, 38229113: 38229113
22OTCNM_000531.5(OTC): c.912G> T (p.Leu304Phe)single nucleotide variantPathogenicrs72558465GRCh37Chr X, 38271159: 38271159
23OTCNM_000531.5(OTC): c.1033T> G (p.Tyr345Asp)single nucleotide variantPathogenicrs66469337GRCh37Chr X, 38280303: 38280303
24OTCNM_000531.5(OTC): c.386G> A (p.Arg129His)single nucleotide variantPathogenicrs66656800GRCh37Chr X, 38240682: 38240682
25OTCNM_000531.5(OTC): c.444G> C (p.Leu148Phe)single nucleotide variantPathogenicrs66741318GRCh37Chr X, 38260585: 38260585
26OTCNM_000531.5(OTC): c.617T> G (p.Met206Arg)single nucleotide variantPathogenicrs72558412GRCh37Chr X, 38262947: 38262947
27OTCNM_000531.5(OTC): c.118C> T (p.Arg40Cys)single nucleotide variantPathogenicrs72554307GRCh37Chr X, 38226584: 38226584
28OTCNM_000531.5(OTC): c.119G> A (p.Arg40His)single nucleotide variantPathogenicrs72554308GRCh37Chr X, 38226585: 38226585

Expression for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ornithine Carbamoyltransferase Deficiency

Search GEO for disease gene expression data for Ornithine Carbamoyltransferase Deficiency.

Pathways for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
50PathCards, 30KEGG, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.2OTC, CPS1
2
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
9.2OTC, CPS1
3
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
9.2OTC, CPS1
4
Show member pathways
8.1CPS1, UPB1, HMGCL, OTC

Compounds for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
51PharmGKB, 45Novoseek, 3BitterDB, 24HMDB, 11DrugBank
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Compounds related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1sodium phenylbutyrate519.5OTC, CPS1
2n-acetylglutamate459.4CPS1, OTC
3sodium benzoate51 310.4OTC, CPS1
4carbamate459.3CPS1, OTC
5phenylacetic acid51 45 2411.3OTC, CPS1
6carbamoyl phosphate459.3OTC, CPS1
7citrulline45 2410.2CPS1, OTC
8urea45 24 1111.2OTC, CPS1
9Ammonia249.0UPB1, CPS1
10pyrimidine45 249.9OTC, UPB1, CPS1
11ornithine45 249.9OTC, DYNLT3, CPS1
12carbon dioxide45 249.8UPB1, CPS1

GO Terms for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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16Gene Ontology
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Cellular components related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.6OTC, HMGCL, CPS1
2mitochondrial matrixGO:0057598.3OTC, HMGCL, CPS1

Biological processes related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1citrulline biosynthetic processGO:0192409.4OTC, CPS1
2midgut developmentGO:0074949.3OTC, CPS1
3urea cycleGO:0000509.3CPS1, OTC
4response to zinc ionGO:0100439.3OTC, CPS1
5cellular nitrogen compound metabolic processGO:0346419.2OTC, CPS1
6liver developmentGO:0018899.1OTC, HMGCL
7response to starvationGO:0425948.9HMGCL, CPS1
8small molecule metabolic processGO:0442818.1CPS1, UPB1, HMGCL, OTC

Molecular functions related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.2OTC, CPS1

Products for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ornithine Carbamoyltransferase Deficiency

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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