MCID: ORN008
MIFTS: 58

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

Name: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 53 37
Ornithine Carbamoyltransferase Deficiency 53 37 12 23 49 55 71 28 14 69
Ornithine Transcarbamylase Deficiency 53 12 23 49 24 55 71 36 13 51
Otc Deficiency 53 23 49 55 71
Ornithine Carbamoyltransferase Deficiency Disease 24 51 41
Otcd 49 71
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 71
Deficiency of Citrulline Phosphorylase 12
Ornithine Transcarbamylase 13
Oct Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
ornithine transcarbamylase deficiency, hyperammonemia due to:
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance for otc deficiency is complete in hemizygous males...

Classifications:



Summaries for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

NIH Rare Diseases : 49 Ornithine transcarbamylase (OTC) deficiency is a genetic 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. The disease most commonly occur early in babies (early-onset form), affecting more males, and rarely, females. The signs and symptoms of OTC deficiency may include lack of energy and appetite, poorly-controlled breathing rate or body temperature, unusual body movements, seizures, or coma. Complications include development delay, intellectual disability, and liver problems. Less frequently, the disease occur later in life (late-onset form) and is less severe. The late-onset form affects males and females, and is characterized by episodes of delirium, erratic behavior, or a reduced level of consciousness; headaches; vomiting; aversion to protein foods; and seizures. OTC is caused by mutations in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications, and having hemodialysis, if needed. Last updated: 7/21/2017

MalaCards based summary : Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to, also known as ornithine carbamoyltransferase deficiency, is related to argininosuccinic aciduria and carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, and has symptoms including splenomegaly, aminoaciduria and hypoglycemia. 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.

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

Genetics Home Reference : 24 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 : 53 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 : 71 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 : 72 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

GeneReviews: NBK154378

Related Diseases for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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



Diseases related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Symptoms & Phenotypes for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
coma
cerebral edema
episodic ataxia
more
Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperammonemia
high plasma glutamine
low plasma arginine
low plasma citrulline
high plasma asparagine
more
Abdomen Gastroin testinal:
vomiting
protein avoidance

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:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 aminoaciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003355
3 hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001943
4 hepatic failure 55 31 hallmark (90%) Very frequent (99-80%) HP:0001399
5 hyperammonemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001987
6 pyloric stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002021
7 seizures 31 HP:0001250
8 vomiting 31 HP:0002013
9 lethargy 31 HP:0001254
10 intellectual disability 31 HP:0001249
11 failure to thrive 31 HP:0001508
12 global developmental delay 31 HP:0001263
13 irritability 31 HP:0000737
14 coma 31 HP:0001259
15 stroke 31 occasional (7.5%) HP:0001297
16 cerebral edema 31 HP:0002181
17 episodic ammonia intoxication 31 HP:0001951
18 hyperglutaminemia 31 HP:0003217
19 episodic ataxia 31 HP:0002131
20 protein avoidance 31 HP:0002038
21 respiratory alkalosis 31 HP:0001950
22 low plasma citrulline 31 HP:0003572

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


vomiting, seizures, lethargy

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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 2 546-88-3 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 Recruiting 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
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

Genetic Tests for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

# Genetic test Affiliating Genes
1 Ornithine Carbamoyltransferase Deficiency 28 OTC

Anatomical Context for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

38
Liver, 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, Hyperammonemia Due to:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate

Publications for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

Articles related to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to:

(show all 39)
# Title Authors Year
1
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency. ( 25123069 )
2014
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
A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder. ( 24199608 )
2013
5
Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry. ( 23085206 )
2013
6
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. ( 22563224 )
2012
7
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. ( 23278509 )
2012
8
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. ( 20127982 )
2010
9
Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman. ( 16435206 )
2005
10
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. ( 12974275 )
2003
11
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. ( 12974280 )
2003
12
Neurological outcome of patients with ornithine carbamoyltransferase deficiency. ( 11806886 )
2002
13
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. ( 11596657 )
2001
14
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia. ( 11804205 )
2001
15
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. ( 11286382 )
2001
16
Ornithine carbamoyltransferase deficiency. ( 11124797 )
2001
17
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals. ( 11432394 )
2001
18
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. ( 11117427 )
2000
19
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. ( 11117428 )
2000
20
Ornithine carbamoyltransferase deficiency presenting with chorea in a female. ( 11196111 )
2000
21
Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation. ( 10399103 )
1999
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
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. ( 9501271 )
1998
25
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. ( 9266354 )
1997
26
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. ( 8750014 )
1995
27
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. ( 8777776 )
1995
28
Sudden onset of ornithine carbamoyltransferase deficiency after aspirin ingestion. ( 8295421 )
1993
29
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity. ( 1779638 )
1991
30
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. ( 1779634 )
1991
31
Rett's syndrome and ornithine carbamoyltransferase deficiency. ( 2122091 )
1990
32
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. ( 2795358 )
1989
33
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity. ( 2612006 )
1989
34
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events. ( 3816076 )
1987
35
Rett's syndrome and ornithine carbamoyltransferase deficiency. ( 2890926 )
1987
36
Valproate toxicity and ornithine carbamoyltransferase deficiency. ( 2878165 )
1986
37
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency. ( 6441862 )
1984
38
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. ( 6823424 )
1983
39
Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme. ( 7389139 )
1980

Variations for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

71 (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 all 36)
# 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.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs67960011 GRCh37 Chromosome X, 38260562: 38260562
4 OTC NM_000531.5(OTC): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs1800324 GRCh37 Chromosome X, 38240628: 38240628
5 OTC NM_000531.5(OTC): c.646C> G (p.Gln216Glu) single nucleotide variant Pathogenic rs72558423 GRCh37 Chromosome X, 38262976: 38262976
6 OTC NM_000531.5(OTC): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs72556267 GRCh37 Chromosome X, 38260601: 38260601
7 OTC NM_000531.5(OTC): c.134T> C (p.Leu45Pro) single nucleotide variant Pathogenic rs72554312 GRCh37 Chromosome X, 38226600: 38226600
8 OTC NM_000531.5(OTC): c.77G> A (p.Arg26Gln) single nucleotide variant Pathogenic rs68031618 GRCh37 Chromosome X, 38212026: 38212026
9 OTC OTC, ARG245TRP undetermined variant Pathogenic
10 OTC NM_000531.5(OTC): c.717+2T> C single nucleotide variant Pathogenic rs72558431 GRCh37 Chromosome X, 38268050: 38268050
11 OTC OTC, IVS7DS, A-G, +3 single nucleotide variant Pathogenic
12 OTC NM_000531.5(OTC): c.387-2A> T single nucleotide variant Pathogenic rs66556380 GRCh37 Chromosome X, 38260526: 38260526
13 OTC NM_000531.5(OTC): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs72558454 GRCh37 Chromosome X, 38268240: 38268240
14 OTC NM_000531.5(OTC): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic/Likely pathogenic rs67120076 GRCh37 Chromosome X, 38268005: 38268005
15 OTC NM_000531.5(OTC): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs72554338 GRCh37 Chromosome X, 38229091: 38229091
16 OTC NM_000531.5(OTC): c.148G> T (p.Gly50Ter) single nucleotide variant Pathogenic rs67486158 GRCh37 Chromosome X, 38226614: 38226614
17 OTC NM_000531.5(OTC): c.484G> A (p.Gly162Arg) single nucleotide variant Pathogenic rs66626662 GRCh37 Chromosome X, 38260625: 38260625
18 OTC OTC, 1-BP DEL, 403G deletion Pathogenic
19 OTC OTC, IVS2, G-A, -1 single nucleotide variant Pathogenic
20 OTC NM_000531.5(OTC): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs72554331 GRCh37 Chromosome X, 38229068: 38229068
21 OTC NM_000531.5(OTC): c.281G> C (p.Arg94Thr) single nucleotide variant Pathogenic rs72554345 GRCh37 Chromosome X, 38229113: 38229113
22 OTC NM_000531.5(OTC): c.912G> T (p.Leu304Phe) single nucleotide variant Pathogenic rs72558465 GRCh37 Chromosome X, 38271159: 38271159
23 OTC NM_000531.5(OTC): c.1033T> G (p.Tyr345Asp) single nucleotide variant Pathogenic rs66469337 GRCh37 Chromosome X, 38280303: 38280303
24 OTC NM_000531.5(OTC): c.386G> A (p.Arg129His) single nucleotide variant Pathogenic rs66656800 GRCh37 Chromosome X, 38240682: 38240682
25 OTC NM_000531.5(OTC): c.444G> C (p.Leu148Phe) single nucleotide variant Pathogenic rs66741318 GRCh37 Chromosome X, 38260585: 38260585
26 OTC NM_000531.5(OTC): c.617T> G (p.Met206Arg) single nucleotide variant Pathogenic rs72558412 GRCh37 Chromosome X, 38262947: 38262947
27 OTC NM_000531.5(OTC): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs72554307 GRCh37 Chromosome X, 38226584: 38226584
28 OTC NM_000531.5(OTC): c.119G> A (p.Arg40His) single nucleotide variant Pathogenic rs72554308 GRCh37 Chromosome X, 38226585: 38226585
29 OTC NM_000531.5(OTC): c.238A> G (p.Lys80Glu) single nucleotide variant Pathogenic rs72554332 GRCh37 Chromosome X, 38229070: 38229070
30 OTC NM_000531.5(OTC): c.540+2T> C single nucleotide variant Pathogenic rs67367843 GRCh37 Chromosome X, 38260683: 38260683
31 OTC NM_000531.5(OTC): c.298+1G> A single nucleotide variant Pathogenic rs68058881 GRCh37 Chromosome X, 38229131: 38229131
32 OTC NM_000531.5(OTC): c.958C> T (p.Arg320Ter) single nucleotide variant Pathogenic rs72558473 GRCh37 Chromosome X, 38271205: 38271205
33 OTC NM_000531.5(OTC): c.72_77+18del24 deletion Pathogenic rs863225061 GRCh37 Chromosome X, 38212021: 38212044
34 OTC NM_000531.5(OTC): c.254T> C (p.Ile85Thr) single nucleotide variant Likely pathogenic rs878853245 GRCh37 Chromosome X, 38229086: 38229086
35 OTC NM_000531.5(OTC): c.517C> G (p.Leu173Val) single nucleotide variant Pathogenic rs1131692152 GRCh38 Chromosome X, 38401405: 38401405
36 OTC NM_000531.5(OTC): c.540+265G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome X, 38260946: 38260946

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

Expression for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

Pathways for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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

36
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220

GO Terms for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

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 12)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.51 CPS1 OTC
2 cellular amino acid biosynthetic process GO:0008652 9.5 ASL ASS1 OTC
3 response to zinc ion GO:0010043 9.49 CPS1 OTC
4 nitrogen compound metabolic process GO:0006807 9.48 CPS1 UPB1
5 pyrimidine nucleoside catabolic process GO:0046135 9.46 DPYD UPB1
6 midgut development GO:0007494 9.43 CPS1 OTC
7 citrulline biosynthetic process GO:0019240 9.4 CPS1 OTC
8 arginine biosynthetic process via ornithine GO:0042450 9.37 ASL OTC
9 urea cycle GO:0000050 9.35 ASL ASS1 CPS1 NAGS OTC
10 anion homeostasis GO:0055081 9.26 CPS1 OTC
11 beta-alanine biosynthetic process GO:0019483 9.16 DPYD UPB1
12 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 phospholipid binding GO:0005543 9.16 CPS1 OTC
2 catalytic activity GO:0003824 9.13 ASL CPS1 DPYD
3 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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