MCID: ORN006
MIFTS: 64

Ornithine Transcarbamylase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Ornithine Transcarbamylase Deficiency

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Ornithine Transcarbamylase Deficiency, Aliases & Descriptions:

Name: Ornithine Transcarbamylase Deficiency 45 9 10 19 41 21 43 47 30
Ornithine Carbamoyltransferase Deficiency 30 9 19 41 11 47 60
Ornithine Carbamoyltransferase Deficiency Disease 21 43 22
Otc Deficiency 19 41 47
 
Ornithine Transcarbamylase 10 20
Oct Deficiency 41 47
Deficiency of Citrulline Phosphorylase 9
Otcd 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
ornithine transcarbamylase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Finland),1-9/100000 (United States); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 311250
Disease Ontology9 DOID:9271
MeSH33 D020163
SNOMED-CT55 80908008, 124249000
Orphanet47 664
MESH via Orphanet34 D020163
ICD10 via Orphanet26 E72.2
UMLS via Orphanet61 C0268542

Summaries for Ornithine Transcarbamylase Deficiency

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OMIM:45 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

MalaCards based summary: Ornithine Transcarbamylase Deficiency, also known as ornithine carbamoyltransferase deficiency, is related to adenosine deaminase deficiency and argininosuccinic aciduria, and has symptoms including hepatic failure, splenomegaly and hypoglycemia. An important gene associated with Ornithine Transcarbamylase Deficiency is OTC (ornithine carbamoyltransferase), and among its related pathways are Alanine and aspartate metabolism and Purine metabolism. The compounds carbamate and delta(1)pyrroline-5-carboxylate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

Disease Ontology:9 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

NIH Rare Diseases:41 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

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

GeneReviews summary for otc-def

Related Diseases for Ornithine Transcarbamylase Deficiency

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Diseases related to Ornithine Transcarbamylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency31.0ADA
2argininosuccinic aciduria30.8ASL, OTC
3hepatitis30.8OTC, ASL, CPS1
4carbamoylphosphate synthetase i deficiency30.8CPS1, OTC
5urea cycle disorder30.8ASS1, ASL
6chronic granulomatous disease30.6ADA, OTC
7argininemia30.5ASS1, ASL, OTC
8orotic aciduria30.1ASS1, ASL, DPYD, OTC
9cerebritis10.5
10acrodermatitis enteropathica10.5
11acrodermatitis10.5
12enteropathica10.5
13reye syndrome10.4OTC
14alkaptonuria10.3
15attention deficit-hyperactivity disorder10.3
16neuroblastoma10.3
17acute pancreatitis10.3
18duchenne muscular dystrophy10.3
19acute liver failure10.3
20retinitis pigmentosa10.3
21status epilepticus10.3
22congenital adrenal hyperplasia10.3
23cortical blindness10.3
24brain edema10.3
25encephalomalacia10.3
26influenza10.3
27intracranial hypertension10.3
28muscular dystrophy10.3
29pancreatitis10.3
30retinitis10.3
31x-linked disease10.3
32ataxia10.3
33blindness10.3
34hyperlysinemia10.2
35hepatoblastoma10.2
36myeloma10.2
37propionicacidemia10.2ASS1, OTC
38hypercholesterolemia, familial10.1OTC, ADA
39mental retardation epilepsy10.1
40mental retardation10.1
41cerebral atrophy10.1
42chickenpox10.1ADA, DPYD
43citrullinemia10.0OTC, ASL, ASS1
44lysinuric protein intolerance10.0ASS1, ASL, OTC
45galactosemia9.9OTC, CPOX
46hyperammonemia multi-gene panels9.8CPS1, ASS1, ASL, OTC
47hemolytic anemia9.8CPOX, ADA
48hepatocellular carcinoma9.8OTC, DPYD, ASS1
49brain disease9.8OTC, DPYD, CPOX
50metabolic syndrome x9.5OTC, DPYD, ASS1, ADA, CPS1

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



Diseases related to ornithine transcarbamylase deficiency

Symptoms for Ornithine Transcarbamylase Deficiency

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Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Symptoms:

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

HPO human phenotypes related to Ornithine Transcarbamylase Deficiency:

(show all 24)
id Description Frequency HPO Source Accession
1 hepatic failure hallmark (90%) HP:0001399
2 splenomegaly hallmark (90%) HP:0001744
3 hypoglycemia hallmark (90%) HP:0001943
4 hyperammonemia hallmark (90%) HP:0001987
5 pyloric stenosis hallmark (90%) HP:0002021
6 aminoaciduria hallmark (90%) HP:0003355
7 stroke rare (5%) HP:0001297
8 irritability HP:0000737
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 lethargy HP:0001254
12 coma HP:0001259
13 global developmental delay HP:0001263
14 x-linked recessive inheritance HP:0001419
15 failure to thrive HP:0001508
16 respiratory alkalosis HP:0001950
17 episodic ammonia intoxication HP:0001951
18 hyperammonemia HP:0001987
19 vomiting HP:0002013
20 protein avoidance HP:0002038
21 episodic ataxia HP:0002131
22 cerebral edema HP:0002181
23 hyperglutaminemia HP:0003217
24 low plasma citrulline HP:0003572

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Ornithine Transcarbamylase Deficiency

Search NIH Clinical Center for Ornithine Transcarbamylase Deficiency

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Ornithine Transcarbamylase Deficiency:
Hepatocyte transplantation for treatment of liver disorders
Promethera
Embryonic/Adult Cultured Cells Related to Ornithine Transcarbamylase Deficiency:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053

Genetic Tests for Ornithine Transcarbamylase Deficiency

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Genetic tests related to Ornithine Transcarbamylase Deficiency:

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

Anatomical Context for Ornithine Transcarbamylase Deficiency

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MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

31
Liver, Testes, Brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Ornithine Transcarbamylase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Ornithine Transcarbamylase Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.2ADA, ASS1, ASL, OTC, CPS1
2MP:00053767.9OTC, ASL, ASS1, ADA, CPS1

Publications for Ornithine Transcarbamylase Deficiency

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Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency. (20422467)
2010
2
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). (20036594)
2010
3
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. (19567648)
2009
4
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. (18262815)
2008
5
Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients. (18030415)
2008
6
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. (17210820)
2007
7
Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. (17845164)
2007
8
Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. (17596675)
2007
9
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. (16575347)
2006
10
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency. (17065101)
2006
11
Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency. (16601906)
2006
12
Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information. (16453063)
2006
13
Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: report of a case. (16341494)
2005
14
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. (15781198)
2005
15
Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations. (15692798)
2005
16
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. (14705115)
2004
17
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. (15466081)
2004
18
Ornithine transcarbamylase deficiency: a urea cycle defect. (12788037)
2003
19
Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. (14607061)
2003
20
Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency. (12898242)
2003
21
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. (14567964)
2003
22
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma. (12514690)
2003
23
Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency. (12651832)
2003
24
Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. (12647200)
2003
25
Hyperammonaemic coma after valproate therapy as adult onset of ornithine transcarbamylase deficiency]. (11852003)
2002
26
An autopsy case of ornithine transcarbamylase deficiency. (11891099)
2002
27
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. (12175784)
2002
28
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. (11286510)
2001
29
Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency. (11241058)
2001
30
Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. (11276280)
2001
31
Preimplantation diagnosis for ornithine transcarbamylase deficiency. (12804198)
2000
32
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. (10064660)
1999
33
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood. (9703419)
1998
34
Living related liver transplantation for patients with ornithine transcarbamylase deficiency]. (9223881)
1997
35
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. (9143919)
1997
36
Long-term treatment of girls with ornithine transcarbamylase deficiency. (8778603)
1996
37
Anesthetic management of a patient with ornithine transcarbamylase deficiency]. (8847794)
1996
38
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. (8903337)
1996
39
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. (8985493)
1996
40
Gene therapy for ornithine transcarbamylase deficiency. (8677801)
1996
41
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. (7797025)
1995
42
Valproate as a cause of hyperammonemia in heterozygotes with ornithine-transcarbamylase deficiency. (7898728)
1995
43
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. (7860066)
1995
44
Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice. (8372069)
1993
45
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. (2035531)
1991
46
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. (2012137)
1991
47
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency. (2037279)
1991
48
Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion. (2208768)
1990
49
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. (2843770)
1988
50
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. (3170748)
1988

Variations for Ornithine Transcarbamylase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Ornithine Transcarbamylase Deficiency:

62 (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 Transcarbamylase Deficiency:

6 (show all 28)
id Gene Variation 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 Transcarbamylase Deficiency

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

Pathways for genes affiliated with Ornithine Transcarbamylase Deficiency

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Pathways related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ASL, ASS1
2
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.3DPYD, ADA
3
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
9.2ASS1, ASL, OTC
49.1ASL, ASS1, CPS1
5
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.7ASS1, ASL, OTC, CPS1
6
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
8.7ASL, ASS1, CPS1, OTC
7
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.7OTC, CPS1, ASL, ASS1
8
Show member pathways
6.7DPYD, ASL, ASS1, ADA, CPS1, CPOX

Compounds for genes affiliated with Ornithine Transcarbamylase Deficiency

About this section
Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

(show all 46)
idCompoundScoreTop Affiliating Genes
1carbamate4310.0OTC, CPS1
2delta(1)pyrroline-5-carboxylate4310.0ASS1, OTC
3Canavaninosuccinate2410.0ASS1, ASL
4l-citrulline28 1210.9ASS1, OTC
5argininosuccinic acid43 2410.9ASL, ASS1
6guanidinoacetate439.9ASS1, ASL
7malate439.9OTC, ASL
8allopurinol43 49 1211.9OTC, ADA
9l-arginine28 24 1211.8ASS1, ASL
10orotic acid43 24 1211.8OTC, DPYD
11iron-sulfur439.8OTC, DPYD
12Ammonia249.8ADA, CPS1
13phosphoenolpyruvate43 1210.8ASS1, OTC
14adenylosuccinate439.7ASS1, DPYD
15n-acetylglutamate439.7CPS1, ASL, OTC
16purine nucleoside439.6DPYD, ADA
17acetyl-l-carnitine439.6OTC, CPOX
18deoxycytidine43 2410.6DPYD, ADA
19ammonium439.6OTC, ASL, ASS1
20cytidine43 24 1211.6DPYD, ADA
21sodium phenylbutyrate499.6CPS1, ASS1, OTC
22xanthine43 2410.5ADA, DPYD
23purine43 2410.4DPYD, ADA
24nucleoside439.3ADA, DPYD
25carbon dioxide43 2410.3CPOX, CPS1
26citrate439.2ASL, CPOX
27vincristine43 49 1211.2DPYD, ADA
28sodium benzoate49 210.2OTC, ASL, ASS1, CPS1
29phenylacetic acid49 43 2411.2CPS1, ASS1, ASL, OTC
30carbamoyl phosphate439.2OTC, ASL, ASS1, CPS1
31citrulline43 2410.1OTC, ASL, ASS1, CPS1
32urea43 24 1211.1CPS1, ASS1, ASL, OTC
33glutamine439.1CPS1, ADA, ASL, OTC
34creatinine439.0OTC, ASL, ASS1, ADA
35aspartate439.0ADA, ASS1, ASL, OTC
36lactate439.0CPOX, ADA, OTC
37pyrimidine43 249.9CPS1, ADA, DPYD, OTC
38leucine438.9OTC, ASS1, CPOX
39nitric oxide43 24 1210.7CPOX, ASS1, ASL, OTC
40dexamethasone43 49 28 1211.6CPOX, ADA, ASS1, ASL
41ornithine43 249.5CPS1, ASS1, ASL, DPYD, OTC
42alanine438.5CPOX, CPS1, ADA, ASS1
43Water248.4ADA, CPS1, CPOX
44glutamate438.2OTC, ASL, ASS1, ADA, CPOX
45atp43 289.2CPOX, CPS1, ADA, ASS1, OTC
46arginine437.8CPOX, CPS1, ADA, ASS1, ASL, OTC

GO Terms for genes affiliated with Ornithine Transcarbamylase Deficiency

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Cellular components related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.8OTC, CPS1, CPOX

Biological processes related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1citrulline biosynthetic processGO:00192409.7OTC, CPS1
2arginine biosynthetic processGO:00065269.7OTC, ASS1
3midgut developmentGO:00074949.6CPS1, OTC
4liver developmentGO:00018899.6OTC, ADA
5response to zinc ionGO:00100439.5OTC, CPS1
6nucleobase-containing small molecule metabolic processGO:00550869.0DPYD, ADA
7urea cycleGO:00000508.9OTC, ASL, ASS1, CPS1
8cellular nitrogen compound metabolic processGO:00346418.9CPS1, ASS1, ASL, OTC
9small molecule metabolic processGO:00442816.9CPOX, CPS1, ADA, ASS1, ASL, DPYD

Molecular functions related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.6OTC, CPS1

Products for genes affiliated with Ornithine Transcarbamylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ornithine Transcarbamylase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet