Gene:
OTC
ornithine carbamoyltransferase

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.


Annotated Labels

  1. FDA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
  2. FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG
  3. FDA Label for phenylacetic acid,sodium benzoate and ARG1,ASL,ASS1,CPS1,NAGS,OTC
  4. EMA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
  5. PMDA Label for valproic acid and CPS1,OTC
  6. HCSC Label for sodium phenylbutyrate and ASS1,CPS1,OTC
  7. HCSC Label for valproic acid and OTC,POLG

last updated 12/13/2013

1. FDA Label for sodium phenylbutyrate and ASS1,CPS1,OTC

Genetic testing required

Summary

BUPHENYL(sodium phenylbutyrate) is indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS).

There's more of this label. Read more.


last updated 03/21/2016

2. FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG

Actionable PGx

Summary

Valproic acid is used to treat patients with various types of seizures. The FDA-approved drug label for valproic acid notes that it is contraindicated in patients with known urea cycle disorders (UCDs), a group of uncommon genetic abnormalities, since these patients can sometimes experience fatal hyperammonemic encephalopathy following initiation of treatment. It is also contraindicated in patients with POLG mutations. However, the label does not explicitly mention testing for genetic mutations leading to UCDs or POLG mutations prior to valproic acid treatment.

There's more of this label. Read more.



last updated 10/29/2013

4. EMA Label for sodium phenylbutyrate and ASS1,CPS1,OTC

Informative PGx

Summary

The EMA European Public Assessment Report (EPAR) for Sodium phenylbutyrate (Ammonaps) contains information regarding the indication of the drug in patients with urea acid disorders. It states that early diagnosis of such disorders and immediate treatment with Sodium phenylbutyrate is important to improve clinical outcome.

There's more of this label. Read more.


5. PMDA Label for valproic acid and CPS1,OTC

Actionable PGx

Summary

The PMDA package insert for valproic acid states that it is contraindicated in patients with known urea cycle disorders (UCDs), due to a risk for severe hyperammonemia. UCDs result from mutations in one of several genes, including ornithine transcarbamylase (OTC) deficiency and carbamoyl-phosphate synthetase 1 (CPS1) deficiency.

There's more of this label. Read more.


6. HCSC Label for sodium phenylbutyrate and ASS1,CPS1,OTC

Genetic testing required

Summary

The product monograph for sodium phenylbutyrate (Pheburane) states that it is indicated for treatment of urea cycle disorders due to deficiencies of carbamylphosphate synthetase (CPS1), ornithine transcarbamylase (OTC) or argininosuccinate synthetase (ASS1).

There's more of this label. Read more.


7. HCSC Label for valproic acid and OTC,POLG

Actionable PGx

Summary

The product monograph for valproic acid states that it is contraindicated in patients with mitochondrial disorders caused by mutations in mitochondrial DNA polymerase gamma (POLG) or in patients with known urea cycle disorders, particularly ornithine transcarbamylase (OTC) deficiency.

There's more of this label. Read more.


PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA32840

Details

Cytogenetic Location: chrX : p21.1 - p11.4
GP mRNA Boundary: chrX : 38211736 - 38280703
GP Gene Boundary: chrX : 38201736 - 38283703
Strand: plus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to OTC: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics. 2010. Beaulieu Mathieu, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Human mutation. 2009. Mitchell Sabrina, et al. PubMed

LinkOuts

NCBI Gene:
5009
OMIM:
300461
311250
UCSC Genome Browser:
NM_000531
RefSeq RNA:
NM_000531
RefSeq Protein:
NP_000522
RefSeq DNA:
NG_008471
NT_079573
UniProtKB:
OTC_HUMAN (P00480)
Ensembl:
ENSG00000036473
GenAtlas:
OTC
GeneCard:
OTC
MutDB:
OTC
ALFRED:
LO061912T
HuGE:
OTC
Comparative Toxicogenomics Database:
5009
ModBase:
P00480
HumanCyc Gene:
HS00516
HGNC:
8512

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