Argininemia - CISMeF

Preferred Label : Argininemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arg1 deficiency; HYPERARGININEMIA; Arginase deficiency;

Description : Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine. 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: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arginase gene (ARG1, 207800.0001);

Laboratory abnormalities : Hyperammonemia; Diaminoaciduria (argininuria, lysinuria, cystinuria, ornithinuria); Hyperargininemia; Orotic aciduria; Pyrimidinuria; Elevated CSF amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine);

Prefixed ID : #207800;

Details

Origin ID

207800;

UMLS CUI

C0268548;

Automatic exact mappings (from CISMeF team)
- Hyperargininemia [HPO term]
Currated CISMeF NLP mapping
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [LOINC component]
- Argininemia [NCIt concept]
- Argininemia [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininemia [PASCAL descriptor]
- arginase deficiency [Disease (Nov.)]
- arginase deficiency [SNOMED Notion]
- argininemia [Artificial nutrition thesaurus concept]
- hyperargininemia [DO Concept]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]
DO Cross reference
- hyperargininemia [DO Concept]
Genes related to phenotype
- Arginase 1 [OMIM gene]
HPO term(s)
- Anorexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Cholestasis [HPO term]
- Diaminoaciduria [HPO term]
- Episodic vomiting [HPO term]
- Frequent falls [HPO term]
- Global developmental delay [HPO term]
- Growth failure [HPO term]
- Hepatomegaly [HPO term]
- Hyperactivity [HPO term]
- Hyperammonemia [HPO term]
- Hyperargininemia [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Micronodular cirrhosis [HPO term]
- Neonatal onset [HPO term]
- Oroticaciduria [HPO term]
- Portal fibrosis [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive spastic quadriplegia [HPO term]
- Seizure [HPO term]
- Spastic gait [HPO term]
- Spastic paraparesis [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Argininemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arginase 1 deficiency [MedDRA LLT]
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [LOINC component]
- Argininemia [ORDO Disease]
- Argininemia [NCIt concept]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininaemia [MedDRA LLT]
- Hyperargininemia [NCIt concept]
- Hyperargininemia [HPO term]
- Hyperargininemia [MedDRA LLT]
- arginase deficiency [SNOMED Notion]
- arginase deficiency [Disease (Nov.)]
- hyperargininemia [MeSH Descriptor]
- hyperargininemia [MeSH concept]
- hyperargininemia [DO Concept]
Validated automatic mappings to NTBT
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- urea cycle disorder [Disease (Nov.)]

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