Citrullinemia, type II, neonatal-onset

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

CISMeF acronym : NICCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NICCD; Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia; Cholestasis, neonatal intrahepatic, caused by citrin deficiency;

Description : Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most patients show spontaneous improvement by 1 year of age. However, some patients may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease (summary by Song et al., 2011).;

Inheritance : Autosomal recessive;

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

Laboratory abnormalities : Elevated plasma citrulline (citrullinemia); Elevated plasma methionine (methioninemia); Elevated plasma galactose (galactosemia); Elevated bilirubin (bilirubinemia); Increased serum triglycerides; Increased cholesterol; Decreased HDL cholesterol;

Prefixed ID : #605814;

Details

Origin ID

605814;

UMLS CUI

C1853942;

Automatic exact mappings (from CISMeF team)
- Citrin deficiency [ORDO Disease]
- SLC25A13 wt Allele [NCIt concept]
- neonatal-onset type II citrullinemia [DO Concept]
Broader ORDO disease(s)
- Citrullinemia [ORDO Disease]
Currated CISMeF NLP mapping
- Neonatal intrahepatic cholestasis caused by citrin deficiency [ICD-11 More detail]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) [SNOMED CT concept]
- Neonatal-onset citrullinemia type 2 [MeSH concept]
- neonatal onset citrullinemia type 2 [Disease (Nov.)]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]
DO Cross reference
- neonatal-onset type II citrullinemia [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (citrin), member 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Elevated plasma citrulline [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypercholesterolemia [HPO term]
- Hypermethioninemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Intrahepatic cholestasis [HPO term]
ORDO concept(s)
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal intrahepatic cholestasis caused by citrin deficiency [ICD-11 More detail]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) [SNOMED CT concept]
- Neonatal-onset citrullinemia type 2 [MeSH concept]
- neonatal onset citrullinemia type 2 [Disease (Nov.)]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]

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