Disease #02564 (NICCD (citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD))), OMIM:605814)

Official abbreviation NICCD
Name citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD))
OMIM ID 605814
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 71
Phenotype entries for this disease 71
Associated with 1 gene SLC25A13
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

71 entries on 1 page. Showing entries 1 - 71.
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00112523 - PubMed: Tazawa 2001 - - - - - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112527 - PubMed: Ohura 2001, OMIM:var0001 - - - Japan - - - - - NICCD favorable clinical course, all biochemical abnormalities normalized at 12m SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112528 - PubMed: Tamamori 2002, OMIM:var0001 - - - Japan - - - - - NICCD progressive, liver transplant at 10m SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112533 - PubMed: Tamamori 2002, OMIM:var0002 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112534 - PubMed: Tomamosa 2001, OMIM:var0002 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 2 2 Johan den Dunnen
00132623 Pat758 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132647 Pat709 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Israel Jewish-Ashkenazi - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132648 Pat730 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132649 Pat1037 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Czech Republic - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132652 Pat1221 PubMed: Tabata 2008, Journal: Tabata 2008 - - - United Kingdom (Great Britain) Pakistan - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132740 16737877-Pat1 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased Citr, Met, Orn SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132741 16737877-Pat2 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Met, Tyr, Pro SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132742 16737877-Pat3 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD normal amino acid levels SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132743 16737877-Pat11 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132744 16737877-Pat4 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Met, Tyr SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132745 16737877-Pat5 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Citr SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132746 17982687-Pat1 PubMed: Ko 2007 - M - Korea - - - - - NICCD hyperammonemia, hypercitrullinemia, galactosemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132747 17982687-Pat2 PubMed: Ko 2007 - F - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132748 17982687-Pat3 PubMed: Ko 2007 - M - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132749 17982687-Pat4 PubMed: Ko 2007 - F - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132753 Pat Journal: Hutchin 2006 P-4-23 - M no United Kingdom (Great Britain) - - - - - NICCD see paper; ... SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132754 Pat Journal: Sheng 2006 P-18-24 - M - Taiwan - - - - - NICCD see paper; ... SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132755 Pat1 Journal: Luder 2006 O-17-2 - M - Israel moslem - - - - NICCD severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132756 Pat2 Journal: Luder 2006 O-17-2 - - no Israel mixed Moslem/Circassian - - - - NICCD severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132757 16311094-Pat PubMed: Takaya 2005 - M - Japan - - - - - NICCD see paper; ... SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132758 16311094-Pat2 PubMed: Takaya 2005 - F - Japan - - - - - NICCD see paper; ... SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132759 12409267-Pat PubMed: Ben-Shalom 2002 - M yes Israel Moslem - - - - NICCD see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132762 15542392-Pat8 PubMed: Tazawa 2004 - F no Japan - - - - - NICCD see paper; ... SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132763 11793471-Pat2 PubMed: Yamaguchi 2002 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00431026 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 15 Johan den Dunnen
00431028 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 23 Johan den Dunnen
00431030 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 78 Johan den Dunnen
00431032 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 21 Johan den Dunnen
00431034 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431035 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431036 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Viet Nam Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431037 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 76 Johan den Dunnen
00431038 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 28 Johan den Dunnen
00431040 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431042 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 6 Johan den Dunnen
00431043 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431045 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 15 Johan den Dunnen
00431047 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431048 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 9 Johan den Dunnen
00431050 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431053 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 26 Johan den Dunnen
00431055 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 5 Johan den Dunnen
00431056 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431059 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431060 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431062 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431064 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 5 Johan den Dunnen
00431067 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431068 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 9 Johan den Dunnen
00431069 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431071 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431073 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - - - - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431074 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 3 Johan den Dunnen
00431076 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431078 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 6 Johan den Dunnen
00431080 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 16 Johan den Dunnen
00431082 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431083 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431084 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431085 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431086 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - - - - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431088 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - NICCD - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431089 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431090 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - - Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431091 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431092 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - NICCD - SLC25A13 SLC25A13 1 1 Johan den Dunnen
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