OTCD
MCID: ORN006
MIFTS: 61

Ornithine Transcarbamylase Deficiency (OTCD) malady

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

Aliases & Classifications for Ornithine Transcarbamylase Deficiency

Aliases & Descriptions for Ornithine Transcarbamylase Deficiency:

Name: Ornithine Transcarbamylase Deficiency 54 12 23 50 24 25 56 66 13 52 38
Ornithine Carbamoyltransferase Deficiency 38 12 23 50 24 56 66 14 69
Otc Deficiency 23 50 24 56 66
Ornithine Carbamoyltransferase Deficiency Disease 25 29 52 42
Otcd 50 66
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 66
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 54
Hyperammonemia Due to Ornithine Transcarbamylase Deficiency 24
Ornithine Carbamoyl Transferase Deficiency 24
Deficiency of Citrulline Phosphorylase 12
Ornithine Transcarbamylase 13
Oct Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
ornithine transcarbamylase deficiency:
Inheritance x-linked recessive inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 311250
Disease Ontology 12 DOID:9271
ICD10 33 E72.4
NCIt 47 C84957
SNOMED-CT 64 124249000 80908008
Orphanet 56 ORPHA664
UMLS via Orphanet 70 C0268542
MESH via Orphanet 43 D020163
ICD10 via Orphanet 34 E72.4
UMLS 69 C0268542

Summaries for Ornithine Transcarbamylase Deficiency

UniProtKB/Swiss-Prot : 66 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 carbamoylphosphate synthetase i deficiency and argininemia, and has symptoms including splenomegaly, aminoaciduria and hypoglycemia. An important gene associated with Ornithine Transcarbamylase Deficiency is OTC (Ornithine Carbamoyltransferase), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. The drugs Acetohydroxamic Acid and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and testes.

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.

NIH Rare Diseases : 50 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. the signs and symptoms of otc deficiency may include development delay, intellectual disability and liver problems. it is caused by changes (mutations) in the otc gene. otc deficiency is inherited as anĀ x-linkedĀ condition. treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed. last updated: 11/30/2015

OMIM : 54 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

Wikipedia : 71 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

GeneReviews: NBK154378

Related Diseases for Ornithine Transcarbamylase Deficiency

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

(show all 43)
id Related Disease Score Top Affiliating Genes
1 carbamoylphosphate synthetase i deficiency 11.1
2 argininemia 11.1
3 argininosuccinic aciduria 11.1
4 encephalopathy 10.4
5 hyperammonemia 10.4
6 hepatitis 10.2
7 cerebritis 10.2
8 acute liver failure 10.0
9 enteropathica 10.0
10 acrodermatitis 10.0
11 acrodermatitis enteropathica 10.0
12 central pontine myelinolysis 10.0
13 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ASS1 OTC
14 adenosine deaminase deficiency 9.9
15 chronic granulomatous disease 9.9
16 influenza 9.9
17 retinitis pigmentosa 9.9
18 intracranial hypertension 9.9
19 urea cycle disorder 9.9
20 muscular dystrophy 9.9
21 x-linked disease 9.9
22 congenital adrenal hyperplasia 9.9
23 thrombosis 9.9
24 ataxia 9.9
25 cortical blindness 9.9
26 hepatocellular carcinoma 9.9
27 status epilepticus 9.9
28 encephalomalacia 9.9
29 orotic aciduria 9.9
30 retinitis 9.9
31 brain edema 9.9
32 duchenne muscular dystrophy 9.9
33 pancreatitis 9.9
34 malignant cardiac peripheral nerve sheath neoplasm 9.9 ASS1 OTC
35 ifih1-related aicardi-goutieres syndrome 9.8 ASL CPS1 OTC
36 pulmonary hypertension, neonatal 9.8 ASS1 CPS1 OTC
37 cardiomyopathy, dilated, 1j 9.7 ASL ASS1 OTC
38 aneurysm, intracranial berry, 1 9.7 ASL ASS1 OTC
39 ichthyosis, congenital, autosomal recessive 1 9.7 ASL ASS1
40 carnitine acetyltransferase deficiency 9.7 ASL ASS1 OTC
41 waldenstrom macroglobulinemia 9.6 ASL ASS1 CPS1 OTC
42 c syndrome 9.5 ASL ASS1 DPYD OTC
43 chromosome xp21 deletion syndrome 9.0 ASL ASS1 CPS1 CYBB DPYD OTC

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



Diseases related to Ornithine Transcarbamylase Deficiency

Symptoms & Phenotypes for Ornithine Transcarbamylase Deficiency

Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Human phenotypes related to Ornithine Transcarbamylase Deficiency:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
2 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
3 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
4 hepatic failure 56 32 Very frequent (99-80%) HP:0001399
5 hyperammonemia 56 32 Very frequent (99-80%) HP:0001987
6 pyloric stenosis 56 32 Very frequent (99-80%) HP:0002021
7 seizures 32 HP:0001250
8 vomiting 32 HP:0002013
9 lethargy 32 HP:0001254
10 intellectual disability 32 HP:0001249
11 failure to thrive 32 HP:0001508
12 global developmental delay 32 HP:0001263
13 irritability 32 HP:0000737
14 coma 32 HP:0001259
15 stroke 32 HP:0001297
16 cerebral edema 32 HP:0002181
17 episodic ammonia intoxication 32 HP:0001951
18 hyperglutaminemia 32 HP:0003217
19 episodic ataxia 32 HP:0002131
20 respiratory alkalosis 32 HP:0001950
21 protein avoidance 32 HP:0002038
22 low plasma citrulline 32 HP:0003572

UMLS symptoms related to Ornithine Transcarbamylase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetohydroxamic Acid Approved Phase 1, Phase 2 546-88-3 1990
2 Hematinics Phase 2
3 Liver Extracts Phase 2,Phase 1
4
Ornithine Nutraceutical Phase 2,Phase 1 3184-13-2 6262 389
5 Glutamic Acid Nutraceutical Phase 2
6 Vaccines

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Recruiting NCT00843921 Phase 2, Phase 3
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
6 Manipulating the Gut Microbiome Study Recruiting NCT03181828 Phase 1, Phase 2
7 Urease Inhibitor Drug Treatment for Urea Cycle Disorders Not yet recruiting NCT02670889 Phase 1, Phase 2
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
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

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ornithine Transcarbamylase Deficiency cell therapies at LifeMap Discovery.
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

Genetic tests related to Ornithine Transcarbamylase Deficiency:

id Genetic test Affiliating Genes
1 Ornithine Carbamoyltransferase Deficiency 29
2 Ornithine Transcarbamylase Deficiency 24 OTC

Anatomical Context for Ornithine Transcarbamylase Deficiency

MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate

Publications for Ornithine Transcarbamylase Deficiency

Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50) (show all 192)
id Title Authors Year
1
Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency. ( 28293384 )
2017
2
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency. ( 28266016 )
2017
3
Hiding in Plain Sight, A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation. ( 27997078 )
2016
4
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome. ( 26753873 )
2016
5
Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency. ( 26791129 )
2016
6
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency. ( 27000017 )
2016
7
Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors. ( 27891735 )
2016
8
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). ( 27070778 )
2016
9
Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report. ( 27447480 )
2016
10
Fetal Gene Therapy for Ornithine Transcarbamylase Deficiency by Intrahepatic Plasmid DNA-Micro-Bubble Injection Combined with Hepatic Ultrasound Insonation. ( 26995155 )
2016
11
Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency. ( 26819360 )
2016
12
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. ( 25958381 )
2015
13
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. ( 25647322 )
2015
14
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. ( 25434494 )
2015
15
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration. ( 25949836 )
2015
16
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. ( 26067829 )
2015
17
Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency. ( 25932215 )
2015
18
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. ( 26059767 )
2015
19
Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency. ( 25687292 )
2015
20
Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations. ( 25227973 )
2015
21
Early intervention for late-onset ornithine transcarbamylase deficiency. ( 25711267 )
2015
22
Intracranial Pressure Monitoring Demonstrates that : in a Child with Ornithine Transcarbamylase Deficiency. ( 26427994 )
2015
23
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. ( 25994866 )
2015
24
Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman. ( 26574542 )
2015
25
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. ( 24485820 )
2014
26
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. ( 25011434 )
2014
27
[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency]. ( 25297582 )
2014
28
[Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency]. ( 24711021 )
2014
29
Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiency. ( 24997132 )
2014
30
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. ( 24881970 )
2014
31
Late-onset ornithine transcarbamylase deficiency: treatment and outcome of hyperammonemic crisis. ( 24616362 )
2014
32
Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness. ( 24850570 )
2014
33
Antepartum ornithine transcarbamylase deficiency. ( 25759629 )
2014
34
Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. ( 24271778 )
2013
35
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. ( 23769969 )
2013
36
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. ( 23829977 )
2013
37
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. ( 21884343 )
2011
38
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
39
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency. ( 20406775 )
2010
40
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. ( 19893582 )
2010
41
Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. ( 19783189 )
2010
42
Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report. ( 19640662 )
2010
43
Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency. ( 20422467 )
2010
44
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. ( 20817516 )
2010
45
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. ( 19359120 )
2009
46
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. ( 20050118 )
2009
47
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. ( 19343772 )
2009
48
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. ( 19225137 )
2009
49
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. ( 19567648 )
2009
50
Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma. ( 19737127 )
2009

Variations for Ornithine Transcarbamylase Deficiency

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

66 (show top 50) (show all 111)
id 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:

6 (show all 32)
id 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.72_77+18del24 deletion Pathogenic rs863225061 GRCh37 Chromosome X, 38212021: 38212044
32 OTC NM_000531.5(OTC): c.254T> C (p.Ile85Thr) single nucleotide variant Likely pathogenic rs878853245 GRCh37 Chromosome X, 38229086: 38229086

Copy number variations for Ornithine Transcarbamylase Deficiency from CNVD:

7
id 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

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

Pathways for Ornithine Transcarbamylase Deficiency

GO Terms for Ornithine Transcarbamylase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ASS1 CPS1 CYBB OTC
2 cytoplasm GO:0005737 9.17 ASL ASS1 CPS1 CYBB DPYD OTC

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.61 CPS1 CYBB OTC
2 liver development GO:0001889 9.46 CPS1 OTC
3 cellular amino acid biosynthetic process GO:0008652 9.43 ASL ASS1 OTC
4 response to zinc ion GO:0010043 9.4 CPS1 OTC
5 midgut development GO:0007494 9.37 CPS1 OTC
6 citrulline biosynthetic process GO:0019240 9.32 CPS1 OTC
7 anion homeostasis GO:0055081 9.16 CPS1 OTC
8 arginine biosynthetic process GO:0006526 9.13 ASL ASS1 OTC
9 urea cycle GO:0000050 8.92 ASL ASS1 CPS1 OTC

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

id Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.26 CPS1 OTC
2 flavin adenine dinucleotide binding GO:0050660 9.16 CYBB DPYD
3 catalytic activity GO:0003824 9.13 ASL CPS1 DPYD
4 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Ornithine Transcarbamylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....