Citrullinemia, type II, adult-onset

Preferred Label : Citrullinemia, type II, adult-onset;

Symbol : CTLN2;

CISMeF acronym : CTLN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Citrin deficiency;

Description : Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 (SLC25A13, 603859.0001);

Neoplasia : Hepatocellular carcinoma;

Laboratory abnormalities : Hyperammonemia; Citrullinemia; Abnormal liver enzymes; Low serum albumin; Increased serum triglycerides; Increased serum pancreatic secretory trypsin inhibitor (PSTI); Secondary decreased activity of argininosuccinate synthetase (ASS1);

Prefixed ID : #603471;

Details

Origin ID

603471;

UMLS CUI

C1863844;

Automatic exact mappings (from CISMeF team)
- Citrin deficiency [MedDRA LLT]
- SLC25A13 wt Allele [NCIt concept]
- adult-onset type II citrullinemia [DO Concept]
- symbol withdrawn CTLN2 [HGNC gene]
Currated CISMeF NLP mapping
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
DO Cross reference
- adult-onset type II citrullinemia [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (citrin), member 13 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Argininosuccinic aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Ballooning hepatocyte degeneration [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Elevated plasma citrulline [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hyperammonemia [HPO term]
- Hyperargininemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Pancreatitis [HPO term]
- Portal inflammation [HPO term]
ORDO concept(s)
- Citrullinemia type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Citrin deficiency [ICD-11 More detail]
- Citrin deficiency [ORDO Disease]
- Citrin deficiency (disorder) [SNOMED CT concept]
- citrin deficiency [Disease (Nov.)]

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