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MCID: ORN008
MIFTS: 58

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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MalaCards integrated aliases for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

Name: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 57 38
Ornithine Carbamoyltransferase Deficiency 57 38 12 24 53 59 75 29 6 15 40 73
Ornithine Transcarbamylase Deficiency 57 12 24 53 25 59 75 37 13 55
Otc Deficiency 57 24 53 59 75
Ornithine Carbamoyltransferase Deficiency Disease 25 55 44
Otcd 53 75
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 75
Deficiency of Citrulline Phosphorylase 12
Ornithine Transcarbamylase 13
Oct Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
ornithine transcarbamylase deficiency
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Australia),1-9/100000 (Finland),1-9/1000000 (Canada),1-9/100000 (United States),1-9/100000 (Worldwide); Age of onset: All ages,Neonatal; Age of death: any age,infantile;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
two types - lethal neonatal and less severe, late onset
clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood
carrier females may present with postpartum hyperammonemia
some carrier females have episodes of significant hyperammonemia in infancy or childhood
prevalence of 1 in 40,000 to 1 in 80,000


HPO:

32
ornithine transcarbamylase deficiency, hyperammonemia due to:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance for otc deficiency is complete in hemizygous males...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


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Summaries for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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NIH Rare Diseases : 53 Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood. Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures, or coma. When not treated, the disease can lead to development delay, intellectual disability, and liver damage. Less frequently, symptoms of OTC deficiency begin later in life (the late-onset form) and are less severe. This form occurs in both males and females. Symptoms of this form may include episodes of delirium, erratic behavior, a reduced level of consciousness, headaches, vomiting, and seizures. OTC is caused by mutations in the OTC gene and inheritance is X-linked. Treatment involves removing protein from the diet, taking certain medications, and having hemodialysis if needed for extremely high blood ammonia levels.

MalaCards based summary : Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to, also known as ornithine carbamoyltransferase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and argininosuccinic aciduria, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to is OTC (Ornithine Carbamoyltransferase), and among its related pathways/superpathways are Arginine biosynthesis and Metabolism. The drugs Acetohydroxamic Acid and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain, and related phenotypes are splenomegaly and aminoaciduria

Disease Ontology : 12 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Genetics Home Reference : 25 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.

OMIM : 57 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800). (311250)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Ornithine transcarbamylase deficiency (AKA OTC deficiency) is the most common urea cycle disorder in... more...

GeneReviews: NBK154378
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Related Diseases for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 30.1 ASS1 CPS1 NAGS OTC
2 argininosuccinic aciduria 30.1 ASL ASS1 NAGS OTC
3 argininemia 29.5 ASL ASS1 CPS1 NAGS OTC
4 orotic aciduria 28.8 ASL ASS1 DPYD OTC
5 propionic acidemia 28.6 ASS1 NAGS OTC
6 postpartum psychosis 10.2 ASS1 OTC
7 attention deficit-hyperactivity disorder 10.0
8 alkaptonuria 10.0
9 neuroblastoma 10.0
10 aging 10.0
11 hepatitis 10.0
12 acute pancreatitis 10.0
13 pancreatitis 10.0
14 encephalopathy 10.0
15 reye syndrome 10.0 ASS1 OTC
16 infantile liver failure syndrome 1 9.9
17 acute liver failure 9.9
18 lysinuric protein intolerance 9.8 ASL ASS1
19 citrullinemia, type ii, adult-onset 9.8 ASS1 SLC25A13
20 pyrimidine metabolic disorder 9.8 DPYD UPB1
21 beta-ureidopropionase deficiency 9.8 DPYD UPB1
22 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.3 CPS1 NAGS OTC
23 autosomal recessive disease 9.3 ASS1 SLC25A13
24 citrullinemia, classic 9.1 ASL ASS1 OTC SLC25A13
25 carbonic anhydrase va deficiency, hyperammonemia due to 8.9 ASS1 CPS1 NAGS OTC
26 urea cycle disorder 7.1 ASL ASS1 CPS1 NAGS OTC SLC25A13

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



Diseases related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to
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Symptoms & Phenotypes for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
coma
lethargy
cerebral edema
episodic ataxia
more
Abdomen Gastrointestinal:
vomiting
protein avoidance

Laboratory Abnormalities:
hyperammonemia
high plasma glutamine
low plasma arginine
low plasma citrulline
high plasma asparagine
more
Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
irritability

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis


Clinical features from OMIM:

311250

Human phenotypes related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
3 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
4 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
5 hyperammonemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001987
6 pyloric stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002021
7 intellectual disability 32 HP:0001249
8 seizures 32 HP:0001250
9 ataxia 32 HP:0001251
10 failure to thrive 32 HP:0001508
11 global developmental delay 32 HP:0001263
12 vomiting 32 HP:0002013
13 irritability 32 HP:0000737
14 coma 32 HP:0001259
15 stroke 32 occasional (7.5%) HP:0001297
16 lethargy 32 HP:0001254
17 cerebral edema 32 HP:0002181
18 episodic ammonia intoxication 32 HP:0001951
19 hyperglutaminemia 32 HP:0003217
20 episodic ataxia 32 HP:0002131
21 protein avoidance 32 HP:0002038
22 respiratory alkalosis 32 HP:0001950
23 low plasma citrulline 32 HP:0003572

UMLS symptoms related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:


lethargy, seizures, vomiting
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Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetohydroxamic Acid Approved Phase 1, Phase 2,Phase 2 546-88-3 1990
2
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
3
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
4 Hematinics Phase 2
5 Liver Extracts Phase 2,Phase 1
6 Struvite Phase 1, Phase 2
7 Vaccines

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
2 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
3 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
4 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency Recruiting NCT02991144 Phase 1, Phase 2
5 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
6 Manipulating the Gut Microbiome Study Active, not recruiting NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
7 Urease Inhibitor Drug Treatment for Urea Cycle Disorders Not yet recruiting NCT02670889 Phase 1, Phase 2 Acetohydroxamic Acid;Isotopic Intravenous [13C]-Urea
8 Study of Treatment and Metabolism in Patients With Urea Cycle Disorders Unknown status NCT00004307 Phase 1
9 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
10 Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004498 Phase 1
11 Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency Terminated NCT00004386 Phase 1
12 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI Completed NCT01569568
13 Neurologic Injuries in Adults With Urea Cycle Disorders Completed NCT00472732
14 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
15 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:
Hepatocyte transplantation for treatment of liver disorders
Promethera
Embryonic/Adult Cultured Cells Related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:
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

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Genetic Tests for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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Genetic tests related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

# Genetic test Affiliating Genes
1 Ornithine Carbamoyltransferase Deficiency 29 OTC
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Anatomical Context for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

About this section

MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

41
Liver, Brain, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate
Sources

Publications for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

About this section

Articles related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

(show all 40)
# Title Authors Year
1
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency. ( 28107167 )
2017
2
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency. ( 25123069 )
2014
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
Late-onset ornithine carbamoyltransferase deficiency accompanying acute pancreatitis and hyperammonemia. ( 24073003 )
2013
6
A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder. ( 24199608 )
2013
7
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. ( 23278509 )
2012
8
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. ( 22563224 )
2012
9
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. ( 20127982 )
2010
10
Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman. ( 16435206 )
2005
11
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. ( 12974275 )
2003
12
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. ( 12974280 )
2003
13
Neurological outcome of patients with ornithine carbamoyltransferase deficiency. ( 11806886 )
2002
14
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. ( 11596657 )
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: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. ( 11286382 )
2001
18
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals. ( 11432394 )
2001
19
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. ( 11117427 )
2000
20
Ornithine carbamoyltransferase deficiency presenting with chorea in a female. ( 11196111 )
2000
21
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. ( 11117428 )
2000
22
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. ( 10070622 )
1999
23
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
24
Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation. ( 10399103 )
1999
25
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. ( 9501271 )
1998
26
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. ( 9266354 )
1997
27
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. ( 8750014 )
1995
28
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. ( 8777776 )
1995
29
Sudden onset of ornithine carbamoyltransferase deficiency after aspirin ingestion. ( 8295421 )
1993
30
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity. ( 1779638 )
1991
31
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. ( 1779634 )
1991
32
Rett's syndrome and ornithine carbamoyltransferase deficiency. ( 2122091 )
1990
33
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. ( 2795358 )
1989
34
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity. ( 2612006 )
1989
35
Rett's syndrome and ornithine carbamoyltransferase deficiency. ( 2890926 )
1987
36
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events. ( 3816076 )
1987
37
Valproate toxicity and ornithine carbamoyltransferase deficiency. ( 2878165 )
1986
38
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency. ( 6441862 )
1984
39
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. ( 6823424 )
1983
40
Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme. ( 7389139 )
1980
Sources

Variations for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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UniProtKB/Swiss-Prot genetic disease variations for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

75 (show top 50) (show all 111)
# Symbol AA change Variation ID SNP ID
1 OTC p.Arg26Gln VAR_004843 rs68031618
2 OTC p.Gly39Cys VAR_004844 rs72554306
3 OTC p.Arg40Cys VAR_004845 rs72554307
4 OTC p.Arg40His VAR_004846 rs72554308
5 OTC p.Thr44Ile VAR_004848 rs72554310
6 OTC p.Leu45Pro VAR_004849 rs72554312
7 OTC p.Leu45Val VAR_004850 rs72554311
8 OTC p.Asn47Ile VAR_004852 rs67939655
9 OTC p.Gly50Arg VAR_004853 rs67486158
10 OTC p.Tyr55Asp VAR_004854 rs72554319
11 OTC p.Met56Thr VAR_004855 rs72554320
12 OTC p.Ser60Leu VAR_004856 rs72554323
13 OTC p.Leu63Pro VAR_004857 rs72554324
14 OTC p.Gly79Glu VAR_004858 rs72554331
15 OTC p.Gly83Asp VAR_004860 rs72554337
16 OTC p.Gly83Arg VAR_004861 rs72554336
17 OTC p.Glu87Lys VAR_004862 rs72554338
18 OTC p.Lys88Asn VAR_004863 rs72554339
19 OTC p.Ser90Arg VAR_004864 rs72554342
20 OTC p.Arg92Gln VAR_004865 rs66550389
21 OTC p.Thr93Ala VAR_004866 rs72554344
22 OTC p.Arg94Thr VAR_004867 rs72554345
23 OTC p.Gly100Asp VAR_004868 rs72554349
24 OTC p.Ala102Glu VAR_004870 rs72554350
25 OTC p.His117Leu VAR_004872 rs66539573
26 OTC p.His117Arg VAR_004873 rs66539573
27 OTC p.Thr125Met VAR_004874 rs72554356
28 OTC p.Asp126Gly VAR_004875 rs72554358
29 OTC p.Arg129His VAR_004876 rs66656800
30 OTC p.Leu139Ser VAR_004877 rs72556259
31 OTC p.Arg141Pro VAR_004878 rs68026851
32 OTC p.Arg141Gln VAR_004879 rs68026851
33 OTC p.Leu148Phe VAR_004880 rs66741318
34 OTC p.Ile159Thr VAR_004881 rs72556269
35 OTC p.Asn161Ser VAR_004882 rs72556271
36 OTC p.Gly162Arg VAR_004883 rs66626662
37 OTC p.His168Gln VAR_004884 rs72556276
38 OTC p.His168Arg VAR_004885 rs66867430
39 OTC p.Ile172Met VAR_004886 rs72556280
40 OTC p.Ala174Pro VAR_004887 rs72556281
41 OTC p.Asp175Val VAR_004888 rs68033093
42 OTC p.Tyr176Cys VAR_004889 rs72556283
43 OTC p.Thr178Met VAR_004890 rs72556284
44 OTC p.Gln180His VAR_004892 rs72556287
45 OTC p.Glu181Gly VAR_004893 rs72556290
46 OTC p.His182Leu VAR_004894 rs72556291
47 OTC p.Tyr183Cys VAR_004895 rs72556293
48 OTC p.Tyr183Asp VAR_004896 rs72556292
49 OTC p.Gly188Arg VAR_004897 rs72556294
50 OTC p.Ser192Arg VAR_004898 rs72556298

ClinVar genetic disease variations for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

6
(show top 50) (show all 119)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTC OTC, DEL deletion Pathogenic
2 OTC NM_000531.5(OTC): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs68026851 GRCh37 Chromosome X, 38260563: 38260563
3 OTC NM_000531.5(OTC): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs68026851 GRCh38 Chromosome X, 38401310: 38401310
4 OTC NM_000531.5(OTC): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs67960011 GRCh37 Chromosome X, 38260562: 38260562
5 OTC NM_000531.5(OTC): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs67960011 GRCh38 Chromosome X, 38401309: 38401309
6 OTC NM_000531.5(OTC): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs1800324 GRCh37 Chromosome X, 38240628: 38240628
7 OTC NM_000531.5(OTC): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs1800324 GRCh38 Chromosome X, 38381375: 38381375
8 OTC NM_000531.5(OTC): c.646C> G (p.Gln216Glu) single nucleotide variant Pathogenic rs72558423 GRCh37 Chromosome X, 38262976: 38262976
9 OTC NM_000531.5(OTC): c.646C> G (p.Gln216Glu) single nucleotide variant Pathogenic rs72558423 GRCh38 Chromosome X, 38403723: 38403723
10 OTC NM_000531.5(OTC): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs72556267 GRCh37 Chromosome X, 38260601: 38260601
11 OTC NM_000531.5(OTC): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs72556267 GRCh38 Chromosome X, 38401348: 38401348
12 OTC NM_000531.5(OTC): c.134T> C (p.Leu45Pro) single nucleotide variant Pathogenic rs72554312 GRCh37 Chromosome X, 38226600: 38226600
13 OTC NM_000531.5(OTC): c.134T> C (p.Leu45Pro) single nucleotide variant Pathogenic rs72554312 GRCh38 Chromosome X, 38367347: 38367347
14 OTC NM_000531.5(OTC): c.77G> A (p.Arg26Gln) single nucleotide variant Pathogenic rs68031618 GRCh37 Chromosome X, 38212026: 38212026
15 OTC NM_000531.5(OTC): c.77G> A (p.Arg26Gln) single nucleotide variant Pathogenic rs68031618 GRCh38 Chromosome X, 38352773: 38352773
16 OTC OTC, ARG245TRP undetermined variant Pathogenic
17 OTC NM_000531.5(OTC): c.717+2T> C single nucleotide variant Pathogenic rs72558431 GRCh37 Chromosome X, 38268050: 38268050
18 OTC NM_000531.5(OTC): c.717+2T> C single nucleotide variant Pathogenic rs72558431 GRCh38 Chromosome X, 38408797: 38408797
19 OTC OTC, IVS7DS, A-G, +3 single nucleotide variant Pathogenic
20 OTC NM_000531.5(OTC): c.387-2A> T single nucleotide variant Pathogenic rs66556380 GRCh37 Chromosome X, 38260526: 38260526
21 OTC NM_000531.5(OTC): c.387-2A> T single nucleotide variant Pathogenic rs66556380 GRCh38 Chromosome X, 38401273: 38401273
22 OTC NM_000531.5(OTC): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs72558454 GRCh37 Chromosome X, 38268240: 38268240
23 OTC NM_000531.5(OTC): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs72558454 GRCh38 Chromosome X, 38408987: 38408987
24 OTC NM_000531.5(OTC): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs67120076 GRCh37 Chromosome X, 38268005: 38268005
25 OTC NM_000531.5(OTC): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs67120076 GRCh38 Chromosome X, 38408752: 38408752
26 OTC NM_000531.5(OTC): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs72554338 GRCh37 Chromosome X, 38229091: 38229091
27 OTC NM_000531.5(OTC): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs72554338 GRCh38 Chromosome X, 38369838: 38369838
28 OTC NM_000531.5(OTC): c.148G> T (p.Gly50Ter) single nucleotide variant Pathogenic rs67486158 GRCh37 Chromosome X, 38226614: 38226614
29 OTC NM_000531.5(OTC): c.148G> T (p.Gly50Ter) single nucleotide variant Pathogenic rs67486158 GRCh38 Chromosome X, 38367361: 38367361
30 OTC NM_000531.5(OTC): c.484G> A (p.Gly162Arg) single nucleotide variant Pathogenic rs66626662 GRCh37 Chromosome X, 38260625: 38260625
31 OTC NM_000531.5(OTC): c.484G> A (p.Gly162Arg) single nucleotide variant Pathogenic rs66626662 GRCh38 Chromosome X, 38401372: 38401372
32 OTC OTC, 1-BP DEL, 403G deletion Pathogenic
33 OTC OTC, IVS2, G-A, -1 single nucleotide variant Pathogenic
34 OTC NM_000531.5(OTC): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs72554331 GRCh37 Chromosome X, 38229068: 38229068
35 OTC NM_000531.5(OTC): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs72554331 GRCh38 Chromosome X, 38369815: 38369815
36 OTC NM_000531.5(OTC): c.281G> C (p.Arg94Thr) single nucleotide variant Pathogenic rs72554345 GRCh37 Chromosome X, 38229113: 38229113
37 OTC NM_000531.5(OTC): c.281G> C (p.Arg94Thr) single nucleotide variant Pathogenic rs72554345 GRCh38 Chromosome X, 38369860: 38369860
38 OTC NM_000531.5(OTC): c.912G> T (p.Leu304Phe) single nucleotide variant Pathogenic rs72558465 GRCh37 Chromosome X, 38271159: 38271159
39 OTC NM_000531.5(OTC): c.912G> T (p.Leu304Phe) single nucleotide variant Pathogenic rs72558465 GRCh38 Chromosome X, 38411906: 38411906
40 OTC NM_000531.5(OTC): c.1033T> G (p.Tyr345Asp) single nucleotide variant Pathogenic rs66469337 GRCh37 Chromosome X, 38280303: 38280303
41 OTC NM_000531.5(OTC): c.1033T> G (p.Tyr345Asp) single nucleotide variant Pathogenic rs66469337 GRCh38 Chromosome X, 38421050: 38421050
42 OTC NM_000531.5(OTC): c.386G> A (p.Arg129His) single nucleotide variant Pathogenic rs66656800 GRCh37 Chromosome X, 38240682: 38240682
43 OTC NM_000531.5(OTC): c.386G> A (p.Arg129His) single nucleotide variant Pathogenic rs66656800 GRCh38 Chromosome X, 38381429: 38381429
44 OTC NM_000531.5(OTC): c.444G> C (p.Leu148Phe) single nucleotide variant Pathogenic rs66741318 GRCh37 Chromosome X, 38260585: 38260585
45 OTC NM_000531.5(OTC): c.444G> C (p.Leu148Phe) single nucleotide variant Pathogenic rs66741318 GRCh38 Chromosome X, 38401332: 38401332
46 OTC NM_000531.5(OTC): c.617T> G (p.Met206Arg) single nucleotide variant Pathogenic rs72558412 GRCh37 Chromosome X, 38262947: 38262947
47 OTC NM_000531.5(OTC): c.617T> G (p.Met206Arg) single nucleotide variant Pathogenic rs72558412 GRCh38 Chromosome X, 38403694: 38403694
48 OTC NM_000531.5(OTC): c.118C> T (p.Arg40Cys) single nucleotide variant Likely pathogenic rs72554307 GRCh37 Chromosome X, 38226584: 38226584
49 OTC NM_000531.5(OTC): c.118C> T (p.Arg40Cys) single nucleotide variant Likely pathogenic rs72554307 GRCh38 Chromosome X, 38367331: 38367331
50 OTC NM_000531.5(OTC): c.119G> A (p.Arg40His) single nucleotide variant Pathogenic rs72554308 GRCh37 Chromosome X, 38226585: 38226585

Copy number variations for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262149 X 31500000 37500000 Copy number OTC Ornithine transcarbamylase deficiency
Sources

Expression for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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Search GEO for disease gene expression data for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to.
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Pathways for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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Pathways related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to according to KEGG:

37
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.56 ASL ASS1 CPS1 DPYD NAGS OTC
2
Viral mRNA Translation 66
Show member pathways
 13.3 ASL ASS1 CPS1 NAGS OTC
3
Carbon metabolism 37
Show member pathways
 11.88 ASL ASS1 CPS1 NAGS OTC
4
Amino Acid metabolism 1
11.5 ASS1 CPS1 OTC
5
beta-Alanine metabolism (KEGG) 37
Show member pathways
 11.01 DPYD UPB1
6
Alanine, aspartate and glutamate metabolism 37
10.98 ASL ASS1 CPS1
7
Arginine biosynthesis 37
Show member pathways
 10.77 ASL ASS1 CPS1 NAGS OTC
8
Pantothenate and CoA biosynthesis 37
10.74 DPYD UPB1
9
Beta-alanine metabolism (TR) 22
Show member pathways
 10.69 DPYD UPB1
10
Alanine and aspartate metabolism 1
Show member pathways
 10.52 ASL ASS1
11
Urea cycle and metabolism of amino groups 1
Show member pathways
 10.4 ASL ASS1 CPS1 NAGS OTC
Sources

GO Terms for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 CPS1 OTC SLC25A13
2 mitochondrial matrix GO:0005759 9.13 CPS1 NAGS OTC
3 mitochondrion GO:0005739 9.02 ASS1 CPS1 NAGS OTC SLC25A13

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.77 ASS1 CPS1 OTC
2 liver development GO:0001889 9.69 ASS1 CPS1 OTC
3 response to toxic substance GO:0009636 9.61 ASS1 CPS1
4 response to glucocorticoid GO:0051384 9.61 ASS1 CPS1
5 cellular response to cAMP GO:0071320 9.6 ASS1 CPS1
6 cellular response to glucagon stimulus GO:0071377 9.58 ASS1 CPS1
7 response to amino acid GO:0043200 9.58 ASS1 CPS1
8 cellular amino acid biosynthetic process GO:0008652 9.58 ASL ASS1 OTC
9 response to steroid hormone GO:0048545 9.57 ASS1 CPS1
10 nitrogen compound metabolic process GO:0006807 9.56 CPS1 UPB1
11 response to growth hormone GO:0060416 9.55 ASS1 CPS1
12 pyrimidine nucleoside catabolic process GO:0046135 9.54 DPYD UPB1
13 response to amine GO:0014075 9.52 ASS1 CPS1
14 citrulline biosynthetic process GO:0019240 9.49 CPS1 OTC
15 arginine biosynthetic process via ornithine GO:0042450 9.48 ASL OTC
16 primary metabolic process GO:0044238 9.46 CPS1 OTC
17 cellular response to oleic acid GO:0071400 9.43 ASS1 CPS1
18 response to zinc ion GO:0010043 9.43 ASS1 CPS1 OTC
19 beta-alanine biosynthetic process GO:0019483 9.37 DPYD UPB1
20 urea cycle GO:0000050 9.35 ASL ASS1 CPS1 NAGS OTC
21 midgut development GO:0007494 9.33 ASS1 CPS1 OTC
22 anion homeostasis GO:0055081 9.32 CPS1 OTC
23 arginine biosynthetic process GO:0006526 9.02 ASL ASS1 CPS1 NAGS OTC

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.13 ASL CPS1 DPYD
2 amino acid binding GO:0016597 8.62 ASS1 OTC
Sources

Sources for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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