Citrullinemia, Type Ii, Neonatal-Onset malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Citrullinemia, Type Ii, Neonatal-Onset:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
citrullinemia, type ii, neonatal-onset:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
NIH Rare Diseases:46 Neonatal intrahepatic cholestasis caused by citrin deficiency (niccd) is a liver condition is also known as neonatal-onset type ii citrullinemia. niccd blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. this leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. niccd is generally not severe, and symptoms disappear by age one year with appropriate treatment. years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type ii citrullinemia. niccd is caused by mutations in the slc25a13 gene. this condition is inherited in an autosomal recessive pattern. last updated: 7/11/2011
MalaCards based summary: Citrullinemia, Type Ii, Neonatal-Onset, also known as niccd, is related to failure to thrive and dyslipidemia caused by citrin deficiency and cholestasis, and has symptoms including disturbance of consciousness, cirrhosis and intrahepatic cholestasis. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver.
UniProtKB/Swiss-Prot:68 Cholestasis, neonatal intrahepatic, caused by citrin deficiency: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.
OMIM:50 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder... (605814) more...
Diseases in the Citrullinemia, Type Ii, Neonatal-Onset family:
Diseases related to Citrullinemia, Type Ii, Neonatal-Onset via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Citrullinemia, Type Ii, Neonatal-Onset:
HPO human phenotypes related to Citrullinemia, Type Ii, Neonatal-Onset:(show all 10)
UMLS symptoms related to Citrullinemia, Type Ii, Neonatal-Onset:disturbance of consciousness
MalaCards organs/tissues related to Citrullinemia, Type Ii, Neonatal-Onset:34
UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:68
Clinvar genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:5 (show all 16)
Search GEO for disease gene expression data for Citrullinemia, Type Ii, Neonatal-Onset.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet