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

Official abbreviation HLHS
Name heart, hypoplastic left, syndrome (HLHS)
OMIM ID 241550
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 1 gene GJA1
Associated tissues -
Disease features -
Remarks -


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00266678 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266679 - PubMed: Akçaboy 2008 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266682 - PubMed: Beffagna 2013 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266685 - PubMed: Belvís 2009 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266693 - PubMed: Benson 1999 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266712 - PubMed: Costa 2013 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266714 - PubMed: Costa 2013 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266718 - PubMed: De Luca 2011 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266720 - PubMed: Dentice 2006 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266721 - PubMed: Dentice 2006 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266733 - PubMed: Elliott 2003 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266737 - PubMed: Esposito 2009 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266738 - PubMed: Freudenberg-Hua 2014 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266741 - PubMed: Gioli-Pereira 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266744 - PubMed: Goldmuntz 2001 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266760 - PubMed: Hirayama-Yamada 2005 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266774 - PubMed: Kasahara 2000 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266778 - PubMed: Kasahara 2000 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266784 - PubMed: Kasahara 2004 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266788 - PubMed: Khatami 2017 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266810 - PubMed: Matsuoka 2005 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266827 - PubMed: McElhinney 2003 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266839 - PubMed: Porto 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266845 - PubMed: Pulignani 2018 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266852 - PubMed: Rauch 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266881 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266902 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266928 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266941 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266948 - PubMed: Reamon-Buettner 2013 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266953 - PubMed: Salazar 2011 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266959 - PubMed: Schott 1998 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266963 - PubMed: Stallmeyer 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266974 - PubMed: van Engelen 2012 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266975 - PubMed: Vega 2016 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267008 - PubMed: Zhu 2000 - - - - - - 0 - - ASD-7, HLHS, VSD , SSS: sick sinus syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00300268 Pt5521 Submitted to Human Mutation - F no France - 00y 0 - - CHD, HLHS Hypoplastic mitral valve, hypoplastic left ventricle, hypoplastic aorta HP:0004383 - TAB2 1 4 Patrice Bouvagnet
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