Disease #00390 (HLHS1 (heart, hypoplastic left, syndrome (HLHS)), OMIM:241550)

Official abbreviation HLHS1
Name heart, hypoplastic left, syndrome (HLHS)
OMIM ID 241550
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 1 gene GJA1
Associated tissues -
Disease features -
Remarks -
Date created 2014-05-30 09:00:53 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00266678 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266679 - PubMed: Akçaboy 2008 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266682 - PubMed: Beffagna 2013 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266685 - PubMed: Belvís 2009 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266693 - PubMed: Benson 1999 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266712 - PubMed: Costa 2013 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266714 - PubMed: Costa 2013 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266718 - PubMed: De Luca 2011 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266720 - PubMed: Dentice 2006 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266721 - PubMed: Dentice 2006 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266733 - PubMed: Elliott 2003 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266737 - PubMed: Esposito 2009 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266738 - PubMed: Freudenberg-Hua 2014 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266741 - PubMed: Gioli-Pereira 2010 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266744 - PubMed: Goldmuntz 2001 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266760 - PubMed: Hirayama-Yamada 2005 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266774 - PubMed: Kasahara 2000 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266778 - PubMed: Kasahara 2000 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266784 - PubMed: Kasahara 2004 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266788 - PubMed: Khatami 2017 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266810 - PubMed: Matsuoka 2005 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266827 - PubMed: McElhinney 2003 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266839 - PubMed: Porto 2010 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266845 - PubMed: Pulignani 2018 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266852 - PubMed: Rauch 2010 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266881 - PubMed: Reamon-Buettner 2004 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266902 - PubMed: Reamon-Buettner 2004 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266928 - PubMed: Reamon-Buettner 2004 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266941 - PubMed: Reamon-Buettner 2004 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266948 - PubMed: Reamon-Buettner 2013 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266953 - PubMed: Salazar 2011 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266959 - PubMed: Schott 1998 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00266963 - PubMed: Stallmeyer 2010 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266974 - PubMed: van Engelen 2012 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266975 - PubMed: Vega 2016 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00267008 - PubMed: Zhu 2000 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana Dain
00300268 Pt5521 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - CHD, HLHS1 Hypoplastic mitral valve, hypoplastic left ventricle, hypoplastic aorta HP:0004383 - TAB2 1 4 Patrice Bouvagnet
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