Details of Disease

General Information of Disease (ID: DIS8XETO)

• Disease Name: Neonatal intrahepatic cholestasis due to citrin deficiency
• Synonyms: citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia; neonatal-onset citrullinemia type II; citrullinemia, type II, neonatal-onset; citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia; cholestasis, neonatal intrahepatic, caused by citrin deficiency; neonatal-onset citrullinemia type 2; NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency; neonatal intrahepatic cholestasis due to citrin deficiency
• Definition: Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
• Disease Hierarchy:
  DISIJZ2R: Citrin deficiency
  DIS8XETO: Neonatal intrahepatic cholestasis due to citrin deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0011601
  MESH ID: C536398
  UMLS CUI: C1853942
  OMIM ID: 605814
  MedGen ID: 340091
  Orphanet ID: 247598
  SNOMED CT ID: 717155003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AFP	TTCFEA1	Strong	Altered Expression	[1]
GGT1	TTZVT7O	Strong	Altered Expression	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	DTDSYAQ	Limited	Genetic Variation	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	OTTZVSK6	Supportive	Autosomal recessive	[4]
GPD2	OTV232Y7	Strong	Genetic Variation	[5]

References

• [1] Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.Mol Genet Metab Rep. 2018 Sep 1;17:3-8. doi: 10.1016/j.ymgmr.2018.08.002. eCollection 2018 Dec.
• [2] Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.BMC Pediatr. 2019 Jan 14;19(1):18. doi: 10.1186/s12887-018-1383-5.
• [3] Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):157-163. doi: 10.1515/jpem-2019-0377.
• [4] Citrin Deficiency. 2005 Sep 16 [updated 2017 Aug 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [5] Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.