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Field	Query

	Field	Term

General Information:

Id:	6,678
Diseases:	Barth syndrome - [OMIM] Cardiomyopathy Myopathy
Organism:	Homo sapiens
Publication type:	article
Reference:	Clarke SL et al.(2013) Barth syndrome Orphanet J Rare Dis 8: 23 [PMID: 23398819]

Interaction Information:

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64567	gene/protein mutant TAZ-mut decreases_activity of gene/protein TAZ located at Xq28.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64568	gene/protein mutant TAZ-del decreases_activity of gene/protein TAZ located at Xq28.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64569	gene/protein TAZ increases_activity of disease Barth syndrome If TAZ is mutated, or deleted.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64571	gene/protein TAZ increases_activity of disease Cardiomyopathy If TAZ is mutated, or deleted.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64573	gene/protein TAZ increases_activity of disease Myopathy If TAZ is mutated, or deleted.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64575	gene/protein TAZ increases_activity of phenotype decreased neutrophil cell number If TAZ is mutated, or deleted.

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64577	gene/protein TAZ affects_activity of drug/chemical compound Cardiolipin If TAZ is mutated, or deleted.
Drugbank entries	Show/Hide entries for
Drugbank DB03429	Cardiolipin not specified SLC25A4
Drugbank DB03429	Cardiolipin not specified SLC25A4

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64579	disease Barth syndrome increases_activity of disease Cardiomyopathy

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64580	disease Barth syndrome increases_activity of disease Myopathy

Comment	Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane.
Formal Description Interaction-ID: 64581	disease Barth syndrome increases_activity of phenotype decreased neutrophil cell number

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