Disease #01086 (BTHS;MGCA-2 (Barth syndrome (BTHS, 3-methylglutaconic aciduria type II (MGCA-2))), OMIM:302060)

Official abbreviation BTHS;MGCA-2
Name Barth syndrome (BTHS, 3-methylglutaconic aciduria type II (MGCA-2))
OMIM ID 302060
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 262
Phenotype entries for this disease 262
Associated with 1 gene TAZ
Associated tissues -
Disease features -
Remarks -


Individuals

262 entries on 3 pages. Showing entries 1 - 100.
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00029045 - PubMed: Cantlay 1999 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; dilated cardiomyopathy TAZ TAZ 1 1 Johan den Dunnen
00029046 - {PMID:Steward 2011:DB Barth Syndrome Foundation} - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029047 - DB Barth Syndrome Foundation MGZ (Munchen, Germany) - M - Germany - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029048 - PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029049 - - - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029050 - {PMID:Steward 2011:DB Barth Syndrome Foundation}, PubMed: Kirwin 2014 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029051 - DB Barth Syndrome Foundation - BZapała (Krakow, Poland) - M - Poland - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029052 - PubMed: Mazurova 2013 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029053 - PubMed: Chang 2010, PubMed: Momoi 2012 Japan M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 3 Johan den Dunnen
00029054 - PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029055 - PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Kelley 1991 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029056 - PubMed: Mazurova 2013 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029057 - PubMed: Johnston 1997 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029058 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029059 - PubMed: Ichida 2001 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029060 - PubMed: Valianpour 2002, PubMed: Kuijpers 2004 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; dilated cardiomyopathy, ventricular noncompaction, mild proximal muscle weakness, neutropenia, growth -2SD TAZ TAZ 1 1 Johan den Dunnen
00029061 - PubMed: Bowron 2014 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029062 - {PMID:Steward 2011:DB Barth Syndrome Foundation} - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029063 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Schlame 2003, PubMed: Kirwin 2014 - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; dilated cardiomyopathy, neutropenia, growth retardation, skeletal muscle weakness, 3-methylglutaconic aciduria unknown TAZ TAZ 1 1 Johan den Dunnen
00029064 - PubMed: Ichida 2001 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029065 - PubMed: Bachou 2009 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029066 - PubMed: D'Adamo 1997, PubMed: Vreeken 2000, PubMed: Schlame 2003 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029067 - PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029068 - PubMed: Rigaud 2013 3-generation family, affected son/carrier mother M - France - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; cardiomyopathy TAZ TAZ 1 1 Johan den Dunnen
00029069 - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029070 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029071 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029072 - PubMed: Bione 1996, PubMed: Vreeken 2000 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029073 - PubMed: D'Adamo 1997, PubMed: Valianpour 2002, PubMed: Kuijpers 2004 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029074 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Yen 2008 - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029076 - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029077 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029078 - PubMed: Kuijpers 2004, PubMed: Bowron 2014 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029079 - PubMed: Kuijpers 2004 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029080 - PubMed: Johnston 1997, PubMed: Schlame 2003, PubMed: Gonzalez 2005, PubMed: Kirwin 2014 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029081 - DB Barth Syndrome Foundation MGZ (Munchen, Germany) - M - Germany - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029082 - PubMed: D'Adamo 1997, PubMed: Steward 2010 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029083 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029084 - DB Barth Syndrome Foundation Harvard Partners (USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029085 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029086 - DB Barth Syndrome Foundation MGZ (Munchen, Germany) - M - Germany - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029087 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029088 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029089 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029090 - PubMed: Kim 2013 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029091 - PubMed: Schlame 2003,{ PMID:Gonzalez 2005:15793838}, PubMed: Kirwin 2014 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029092 - Miller 2005 (ACC2005 Poster1142-245) - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029093 - PubMed: Kirwin 2014 BTHS M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029094 - PubMed: Kirwin 2014 BTHS M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029095 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029096 - PubMed: Kirwin 2014 BTHS M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029097 - PubMed: Bione 1996, PubMed: D'Adamo 1997 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029098 - PubMed: Bione 1996, PubMed: Vreeken 2000 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029099 - PubMed: D'Adamo 1997 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029100 - PubMed: van Werkhoven 2006 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029101 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK), {PMID:Steward 2011:DB Barth Syndrome Foundation} - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029102 - PubMed: Valianpour 2002 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; dilated cardiomyopathy, mild proximal muscle weakness, neutropenia, growth -2SD TAZ TAZ 1 1 Johan den Dunnen
00029103 - PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029104 - Exome Variant Server - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029105 - DB Barth Syndrome Foundation AKrentz (Prevention Genetics, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029106 - PubMed: Johnston 1997, PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029107 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029108 - {PMID:Steward 2011:DB Barth Syndrome Foundation} - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029109 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029110 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Kirwin 2014 - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029111 - PubMed: Sabater-Molina 2013 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029112 - PubMed: Mazurova 2013 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029113 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029114 - PubMed: Steward 2010 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029115 - PubMed: Sakamoto 2002 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029116 - PubMed: Rigaud 2013 3-generation family, affected son/carrier mother M - France - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; infection TAZ TAZ 1 1 Johan den Dunnen
00029117 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029118 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Brady 2006 - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029120 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029121 - PubMed: Claypool 2011 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029122 - PubMed: Claypool 2011 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029123 - DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - M - Netherlands - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029124 - DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - M - Netherlands - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029125 - DB Barth Syndrome Foundation BPerez (Madrid, Spain) - M - Spain - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029126 - PubMed: Rigaud 2013 3-generation family, affected son M - France - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 see paper; cardiomyopathy TAZ TAZ 1 1 Johan den Dunnen
00029127 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029128 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029129 - PubMed: Ferri 2013 2-generation family, affected son and carrier mother M - Italy - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029130 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029131 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029132 - PubMed: Sakamoto 2001 - M - - - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029133 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029134 - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029135 - PubMed: Vreeken 2000 - M - Netherlands - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029136 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029137 - DB Barth Syndrome Foundation Harvard Partners (USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029138 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029139 - DB Barth Syndrome Foundation Harvard Partners (USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029140 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029141 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029142 - DB Barth Syndrome Foundation Harvard Partners (USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029143 - DB Barth Syndrome Foundation MGZ (Munchen, Germany) - M - Germany - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029144 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029145 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
00029146 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - BTHS;MGCA-2 - TAZ TAZ 1 1 Johan den Dunnen
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