Ornithine transcarbamylase deficiency, hyperammonemia due to

Preferred Label : Ornithine transcarbamylase deficiency, hyperammonemia due to;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ornithine carbamoyltransferase deficiency; Otc deficiency;

Description : 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).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ornithine transcarbamylase gene (OTC, 311250.0001);

Laboratory abnormalities : Hyperammonemia; Low plasma citrulline; Low plasma arginine; High plasma glutamine; High plasma asparagine; High urinary orotic acid; High ornithine; Hepatic ornithine transcarbamylase deficiency;

Prefixed ID : #311250;

Details

Origin ID

311250;

UMLS CUI

C0268542;

Automatic exact mappings (from CISMeF team)
- ornithine transcarbamylase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamoylase deficiency [MedDRA Preferred Term]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]
DO Cross reference
- ornithine carbamoyltransferase deficiency [DO Concept]
Genes related to phenotype
- Ornithine carbamoyltransferase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Episodic ammonia intoxication [HPO term]
- Episodic ataxia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperammonemia [HPO term]
- Hyperglutaminemia [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Low plasma citrulline [HPO term]
- Protein avoidance [HPO term]
- Respiratory alkalosis [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Ornithine transcarbamylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine Transcarbamylase Deficiency [NCIt concept]
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamoylase deficiency [MedDRA Preferred Term]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]

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