MCID: ORN006
MIFTS: 61

Ornithine Transcarbamylase Deficiency malady

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

Aliases & Classifications for Ornithine Transcarbamylase Deficiency

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Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Ornithine Transcarbamylase Deficiency:

Name: Ornithine Transcarbamylase Deficiency 49 10 11 21 45 23 47 51 32 67
Ornithine Carbamoyltransferase Deficiency 32 10 21 45 22 12 51 65 67
Otc Deficiency 21 45 22 51 67
Ornithine Carbamoyltransferase Deficiency Disease 23 47 24 36
Ornithine Transcarbamylase 11 22
Otcd 45 67
 
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 67
Hyperammonemia Due to Ornithine Transcarbamylase Deficiency 22
Ornithine Carbamoyl Transferase Deficiency 22
Deficiency of Citrulline Phosphorylase 10
Oct Deficiency 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 311250
Disease Ontology10 DOID:9271
Orphanet51 664
SNOMED-CT59 124249000, 80908008
MESH via Orphanet37 D020163
ICD10 via Orphanet28 E72.4
UMLS via Orphanet66 C0268542

Summaries for Ornithine Transcarbamylase Deficiency

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UniProtKB/Swiss-Prot:67 Ornithine carbamoyltransferase deficiency: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.

MalaCards based summary: Ornithine Transcarbamylase Deficiency, also known as ornithine carbamoyltransferase deficiency, is related to argininemia 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 Alanine, aspartate and glutamate metabolism. Affiliated tissues include liver, testes and brain.

Disease Ontology:10 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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

OMIM:49 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

Wikipedia:68 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 60)
idRelated DiseaseScoreTop Affiliating Genes
1argininemia30.0ASL, ASS1, OTC
2argininosuccinic aciduria30.0ASL, ASS1, OTC
3orotic aciduria29.7ASL, ASS1, DPYD, OTC
4encephalopathy10.9
5hyperammonemia10.8
6hepatitis10.6
7urea cycle disorder10.6
8cerebritis10.6
9x-linked disease10.6
10amino acid metabolic disorder10.5
11nutritional deficiency disease10.5
12prion disease10.5
13genetic brain disorders10.5
14inborn amino acid metabolism disorder10.5
15anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.5
16acrodermatitis enteropathica10.5
17acrodermatitis10.5
18central nervous system disease10.5
19enteropathica10.5
20central pontine myelinolysis10.4
21neuroblastoma10.3
22alkaptonuria10.3
23attention deficit-hyperactivity disorder10.3
24acute pancreatitis10.3
25hepatocellular carcinoma10.3
26carbamoylphosphate synthetase i deficiency10.3
27adult syndrome10.3
28spinal and bulbar muscular atrophy of kennedy10.3
29acute liver failure10.3
30chronic granulomatous disease10.3
31retinitis pigmentosa10.3
32mitral valve insufficiency10.3
33status epilepticus10.3
34pharyngoconjunctival fever10.3
35cortical blindness10.3
36metabolic syndrome x10.3
37brain edema10.3
38congenital adrenal hyperplasia10.3
39encephalomalacia10.3
40influenza10.3
41intracranial hypertension10.3
42pancreatitis10.3
43retinitis10.3
44ataxia10.3
45hyperlysinemia10.2
46duchenne muscular dystrophy10.2
47hepatoblastoma10.2
48muscular dystrophy10.2
49myeloma10.2
50mental retardation epilepsy10.1

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:

 51 (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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Drugs for Ornithine Transcarbamylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ornithineapproved, nutraceuticalPhase 2, Phase 13170-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
2Glutamic AcidNutraceuticalPhase 2187

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1N-Carbamylglutamate (Carbaglu) In The Treatment Of HyperammonemiaRecruitingNCT00843921Phase 2, Phase 3
2Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersCompletedNCT00718627Phase 2
3Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
4Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaRecruitingNCT01599286Phase 2
5Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
6Study of Treatment and Metabolism in Patients With Urea Cycle DisordersRecruitingNCT00004307Phase 1
7Hepatocyte Transplantation for Liver Based Metabolic DisordersRecruitingNCT01345578Phase 1
8Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004498Phase 1
9Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004386Phase 1
10Neurologic Injuries in Adults With Urea Cycle DisordersCompletedNCT00472732
11Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRITerminatedNCT01569568
12The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

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


Cochrane evidence based reviews: Ornithine Carbamoyltransferase Deficiency Disease

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 Deficiency22 OTC
2 Ornithine Carbamoyltransferase Deficiency24

Anatomical Context for Ornithine Transcarbamylase Deficiency

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MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

33
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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Publications for Ornithine Transcarbamylase Deficiency

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Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. (25994866)
2015
2
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. (26067829)
2015
3
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. (25434494)
2015
4
Early intervention for late-onset ornithine transcarbamylase deficiency. (25711267)
2015
5
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. (26059767)
2015
6
Intracranial Pressure Monitoring Demonstrates that : in a Child with Ornithine Transcarbamylase Deficiency. (26427994)
2015
7
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. (24881970)
2014
8
Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency]. (25297582)
2014
9
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. (24485820)
2014
10
Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency]. (24711021)
2014
11
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. (25011434)
2014
12
Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency. (20422467)
2010
13
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. (19567648)
2009
14
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. (18262815)
2008
15
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. (17210820)
2007
16
Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. (17845164)
2007
17
Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. (17596675)
2007
18
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. (16575347)
2006
19
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency. (17065101)
2006
20
Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency. (16601906)
2006
21
Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information. (16453063)
2006
22
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
23
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. (14705115)
2004
24
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
25
Ornithine transcarbamylase deficiency: a urea cycle defect. (12788037)
2003
26
Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. (14607061)
2003
27
Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency. (12898242)
2003
28
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. (14567964)
2003
29
Hyperammonaemic coma after valproate therapy as adult onset of ornithine transcarbamylase deficiency]. (11852003)
2002
30
An autopsy case of ornithine transcarbamylase deficiency. (11891099)
2002
31
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. (12175784)
2002
32
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. (11286510)
2001
33
Preimplantation diagnosis for ornithine transcarbamylase deficiency. (12804198)
2000
34
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. (10064660)
1999
35
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood. (9703419)
1998
36
Living related liver transplantation for patients with ornithine transcarbamylase deficiency]. (9223881)
1997
37
Long-term treatment of girls with ornithine transcarbamylase deficiency. (8778603)
1996
38
Anesthetic management of a patient with ornithine transcarbamylase deficiency]. (8847794)
1996
39
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. (8903337)
1996
40
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. (8985493)
1996
41
Gene therapy for ornithine transcarbamylase deficiency. (8677801)
1996
42
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. (7797025)
1995
43
Valproate as a cause of hyperammonemia in heterozygotes with ornithine-transcarbamylase deficiency. (7898728)
1995
44
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. (7860066)
1995
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:

67 (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:

5 (show all 32)
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
29OTCNM_000531.5(OTC): c.72_77+18deldeletionPathogenicGRCh37Chr X, 38212021: 38212044
30OTCNM_000531.5(OTC): c.238A> G (p.Lys80Glu)single nucleotide variantPathogenicrs72554332GRCh37Chr X, 38229070: 38229070
31OTCNM_000531.5(OTC): c.540+2T> Csingle nucleotide variantPathogenicrs67367843GRCh37Chr X, 38260683: 38260683
32OTCNM_000531.5(OTC): c.140A> C (p.Asn47Thr)single nucleotide variantPathogenicrs67939655GRCh37Chr X, 38226606: 38226606

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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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:00057439.3CPOX, CPS1, OTC
2cytoplasmGO:00057376.4ASL, ASS1, CPOX, CPS1, CYBB, DPYD

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:004245010.4ASL, OTC
2citrulline biosynthetic processGO:001924010.2CPS1, OTC
3anion homeostasisGO:005508110.2CPS1, OTC
4response to amineGO:001407510.1ASS1, CPS1
5response to amino acidGO:004320010.1ASS1, CPS1
6response to steroid hormoneGO:004854510.1ASS1, CPS1
7response to glucocorticoidGO:005138410.1ASS1, CPS1
8response to growth hormoneGO:006041610.1ASS1, CPS1
9cellular response to cAMPGO:007132010.1ASS1, CPS1
10cellular response to glucagon stimulusGO:007137710.1ASS1, CPS1
11cellular response to oleic acidGO:007140010.0ASS1, CPS1
12liver developmentGO:00018899.7ASS1, CPS1, OTC
13midgut developmentGO:00074949.7ASS1, CPS1, OTC
14response to zinc ionGO:00100439.7ASS1, CPS1, OTC
15arginine biosynthetic processGO:00065269.7ASL, ASS1, CPS1
16urea cycleGO:00000509.3ASL, ASS1, CPS1, OTC
17polyamine metabolic processGO:00065959.3ASL, ASS1, CPS1, OTC
18response to toxic substanceGO:00096369.3ASS1, CPS1
19response to drugGO:00424939.2ASS1, CPS1, OTC
20cellular nitrogen compound metabolic processGO:00346418.8ASL, ASS1, CPS1, OTC
21small molecule metabolic processGO:00442817.4ASL, ASS1, CPOX, CPS1, DPYD, OTC

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

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.9CPS1, OTC
2amino acid bindingGO:00165979.6ASS1, OTC
3flavin adenine dinucleotide bindingGO:00506609.4CYBB, DPYD

Sources for Ornithine Transcarbamylase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet