Disease #00129 (NICCD (Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency), OMIM:605814)

Official abbreviation NICCD
Name Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency
OMIM ID 605814
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene SLC25A13
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000663 Hock Lock Ngu et al.(2010) F Malaysia Malay - - - NICCD birth weight: 2.3kg, jaundiced with pale-coloured stools and had a mild hepatosplenomegaly. Liver function test revealed conjugated hyperbilirubinemia and evidence of liver dysfunction. SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000664 Hock Lock Ngu et al.(2010) F Malaysia Malay - - - NICCD birth weight: 2.1kg, jaundiced with pale stools, failure to thrive and a mild hepatosplenomegaly, had hypokalemia, hypophosphatemia and metabolic acidosis with normal anion gap. Hepatic sonography showed features of fatty liver but normal biliary tract. Hepatic biopsy showed generalized macrovesicular steatosis, bile stasis, and the portal tract was infiltrated by lymphocytes SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000665 Hock Lock Ngu et al.(2010) M Malaysia Malay - - - NICCD birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month. SLC25A13 SLC25A13 2 1 Nur Aisyah Athirah
00000705 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.5kg, physiological jaundice at 3 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000706 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.3kg, jaundice at 8 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000707 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.46kg, cholestatic jaundice at 8 weeks, Mild delay in development SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000708 Hui Bein Chew et al.(2010) F Malaysia Chinese - - - NICCD Birth weight: 2.95kg, transient neonatal physiological jaundice at 8 weeks, Failure to thrive SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000709 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
00000710 Hui Bein Chew et al.(2010) M Malaysia Malay - - - NICCD Birth weight: 2.5kg, physiological jaundice at 8 weeks SLC25A13 SLC25A13 2 1 Nur Aisyah Athirah
00000711 Hui Bein Chew et al.(2010) M Malaysia Chinese - - - NICCD Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly SLC25A13 SLC25A13 2 1 Nur Aisyah Athirah
00000712 Hui Bein Chew et al.(2010) F Malaysia Malay - - - NICCD Birth weight: 2.5kg, prolonged cholestatic jaundice at 4 weeks, Hepatomegaly. SLC25A13 SLC25A13 1 1 Nur Aisyah Athirah
Legend   How to query