Citrullinemia, Type Ii, Neonatal-Onset (NICCD)

Alias:

Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency

Niccd

Citrullinemia, Type Ii, Neonatal-Onset, with or Without Failure to Thrive and Dyslipidemia

Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Neonatal-Onset Type Ii Citrullinemia

Citrin Deficiency

Neonatal-Onset Citrullinemia Type Ii

Neonatal-Onset Type 2 Citrullinemia

Neonatal-Onset Citrullinemia Type 2

Adult-Onset Citrullinemia Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Citrullinemia, Type Ii, Neonatal-Onset, also known as neonatal intrahepatic cholestasis due to citrin deficiency, is related to citrullinemia, type ii, adult-onset and citrullinemia, classic. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver and brain, and related phenotypes are hypertriglyceridemia and jaundice

Related ID：

MALACARDS：CTR077

OMIM：605814

MESH：D002780