Disease #02453 (CTLN2 (citrullinemia, type II (CTLN-2)), OMIM:603471)

Official abbreviation CTLN2
Name citrullinemia, type II (CTLN-2)
OMIM ID 603471
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 64
Phenotype entries for this disease 64
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

64 entries on 1 page. Showing entries 1 - 64.
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00112522 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112524 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112525 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 9 Johan den Dunnen
00112526 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112529 - - - F - China - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Chao Liu
00112531 11153906-Pat PubMed: Yasuda 2000 2 patients M - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 2 Johan den Dunnen
00112532 - PubMed: Kobayashi 1999, OMIM:var0002 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112536 - PubMed: Kobayashi 1999, OMIM:var0003 - - - - - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00112538 - PubMed: Fiermonte 2008, OMIM:var0007 - - no Pakistan - - - - - CTLN2 episodic confusion, elevated plasma ammonia/arginine levels; fatal hyperammonemic encephalopathy SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132621 patient PubMed: Takahashi 2006 - M - Japan - - - - - CTLN2 see paper SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132622 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Canada French-Canadian - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132625 ? PubMed: Woo 2014, Journal: Woo 2014 - - - China - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132626 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 11 Johan den Dunnen
00132627 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 11 Johan den Dunnen
00132628 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132629 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Taiwan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132630 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Canada French-Canadian - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132631 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132632 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 49 Johan den Dunnen
00132633 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 34 Johan den Dunnen
00132634 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132635 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 3 Johan den Dunnen
00132636 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132637 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00132638 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132639 Pat702 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132640 PatP474 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132642 Pat557 PubMed: Tabata 2008, Journal: Tabata 2008 - F no Japan - - - - partial liver transplantation from mother CTLN2 diagnosed as CTLN2 by clinical and biochemical studies SLC25A13 SLC25A13 3 1 Johan den Dunnen
00132643 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00132646 Pat857 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132650 Pat549 PubMed: Tabata 2008, Journal: Tabata 2008 - - no Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132651 Pat456 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132750 17982687-Pat5 PubMed: Ko 2007 - M - Korea - - - - - CTLN2 hyperammonemia, hypercitrullinemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132751 17982687-Pat6 PubMed: Ko 2007 - M - Korea - - - - - CTLN2 hyperammonemia, hypercitrullinemia SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132760 16059747-Pat1 PubMed: Lu 2005 - - - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132761 16059747-Pat PubMed: Lu 2005 - - no Japan - - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00132764 11153906-Pat PubMed: Yasuda 2000 - F - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00132766 11153906-Pat PubMed: Yasuda 2000 - M - Japan - - - - - CTLN2 - SLC25A13 SLC25A13 2 1 Johan den Dunnen
00431025 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431027 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431029 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 44 Johan den Dunnen
00431031 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 28 Johan den Dunnen
00431033 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431039 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431041 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431044 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431046 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431049 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 15 Johan den Dunnen
00431051 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431052 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 15 Johan den Dunnen
00431054 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431057 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431058 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 3 Johan den Dunnen
00431061 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431063 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431065 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431066 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431070 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431072 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431075 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431077 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 1 Johan den Dunnen
00431079 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 4 Johan den Dunnen
00431081 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 2 Johan den Dunnen
00431087 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - SLC25A13 SLC25A13 1 3 Johan den Dunnen
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