Citrullinemia, classic

Preferred Label : Citrullinemia, classic;

CISMeF acronym : CTLN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Citrullinemia, type I; Ass deficiency; CTLN1; Argininosuccinate synthetase deficiency; CITRULLINURIA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the argininosuccinate synthetase gene (ASS, 603470.0001);

Laboratory abnormalities : Hyperammonemia; High plasma citrulline (1000-5000 micromolar); High plasma glutamine; Low plasma arginine; Orotic aciduria; Hepatic argininosuccinate synthetase deficiency;

Prefixed ID : #215700;

Details

Origin ID

215700;

UMLS CUI

C4721769;

Automatic exact mappings (from CISMeF team)
- ASS1 wt Allele [NCIt concept]
- Adult-onset citrullinemia type I [ORDO Disease]
- Citrullinuria [HPO term]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- argininosuccinate synthase 1 [ORDO Gene]
- citrullinemia [Artificial nutrition thesaurus concept]
- classic citrullinemia [DO Concept]
Currated CISMeF NLP mapping
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [ICD-11 Sub-sub category]
- Citrullinaemia [MedDRA LLT]
- Citrullinaemia type 1 [ICD-11 More detail]
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [ORDO Disease]
- Citrullinemia [MedDRA LLT]
- Citrullinemia [NCIt concept]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia Type I [NCIt concept]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [Disease (Nov.)]
- citrullinemia [DO Concept]
- citrullinemia [MeSH Descriptor]
- citrullinemia [MeSH concept]
- citrullinemia [SNOMED Notion]
DO Cross reference
- classic citrullinemia [DO Concept]
Genes related to phenotype
- Argininosuccinate synthetase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Cirrhosis [HPO term]
- Coma [HPO term]
- Episodic ammonia intoxication [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperglutaminemia [HPO term]
- Hypoargininemia [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Neonatal onset [HPO term]
- Oroticaciduria [HPO term]
- Protein avoidance [HPO term]
- Respiratory alkalosis [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Vomiting [HPO term]
Matching ORDO disease(s)
- Citrullinemia [ORDO Disease]
ORDO concept(s)
- Citrullinemia type I [ORDO Disease]
See also inter- (CISMeF)
- Acute neonatal citrullinemia type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [MedDRA LLT]
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia [ORDO Disease]
- Citrullinemia [NCIt concept]
- Citrullinemia [MedDRA LLT]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia Type I [NCIt concept]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [SNOMED Notion]
- citrullinemia [MeSH Descriptor]
- citrullinemia [MeSH concept]
- citrullinemia [DO Concept]
- citrullinemia [Disease (Nov.)]

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