BTHS
MCID: BRT005
MIFTS: 62

Barth Syndrome (BTHS) malady

Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Cardiovascular diseases categories

Summaries for Barth Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of cardiomyopathy (a disorder of the heart muscle leading to a poorly functioning heart), neutropenia (a reduction in the number of white blood cells which may lead to an increased risk for bacterial infections), hypotonia (reduced muscle tone), muscle weakness, undeveloped skeletal muscles, delayed growth, lack of stamina, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two, and, thus, are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers.

MalaCards: Barth Syndrome, also known as 3-methylglutaconic aciduria type ii, is related to myopathy and dilated cardiomyopathy, and has symptoms including polynuclear cells/neutrophils anomalies/neutropenia, abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase and endocardium anomalies/fibroelastosis/endocarditis. An important gene associated with Barth Syndrome is TAZ (tafazzin), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Acyl chain remodeling of CL. The compounds bromoenol lactone and lysophospholipid have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and eye, and related mouse phenotype muscle.

Disease Ontology:8 A lipid metabolism disorder that has material basis in x-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

NIH Rare Diseases:42 Barth syndrome is a metabolic and neuromuscular disorder, occurring exclusively in males, that primarily affects the heart, immune system, and growth. it typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies considerably among affected individuals. the main characteristics of the condition include abnormalities of heart and skeletal muscle (cardiomyopathy and skeletal myopathy); low levels of certain white blood cells called neutrophils that help to fight bacterial infections (neutropenia); and growth retardation, potentially leading to short stature. other signs and symptoms may include increased levels of certain organic acids in the urine and blood (such as 3-methylglutaconic acid), and increased thickness of the left ventricle of the heart due to endocardial fibroelastosis, which can cause potential heart failure. it is caused by mutations in the taz gene and is inherited in an x-linked recessive manner. treatment is directed toward the specific symptoms that are apparent in each individual. last updated: 6/3/2011

Wikipedia:63 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

Description from OMIM:46 302060

Aliases & Classifications for Barth Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
barth syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

barth syndrome 8 9 42 43 46 10 44 48
3-methylglutaconic aciduria type ii 42 20 22
cardioskeletal myopathy with neutropenia and abnormal mitochondria 42 48
3-methylglutaconic aciduria type 2 48 60
mga type ii 8 42
bths 42 48
x-linked cardioskeletal myopathy and neutropenia 48
3-@methylglutaconic aciduria, type i 60
cardioskeletal myopathy-neutropenia 48
3-methylglutaconicaciduria type ii 8
3-methylglutaconicaciduria type 2 8
mga type 2 8
mga2 48


External Ids:

Disease Ontology8 DOID:0050476
MeSH34 D056889
OMIM46 302060
MESH via Orphanet35 D056889
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet57 297231002
UMLS via Orphanet61 C0574083

Related Diseases for Barth Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Barth Syndrome:



Diseases related to barth syndrome

Clinical Features for Barth Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

302060

Clinical synopsis from OMIM:

302060

Symptoms:

48
  • polynuclear cells/neutrophils anomalies/neutropenia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • endocardium anomalies/fibroelastosis/endocarditis
  • x-linked recessive inheritance
  • cardiomyopathy/hypertrophic/dilated

Drugs & Therapeutics for Barth Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Barth Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Barth Syndrome

Search CenterWatch for Barth Syndrome

Genetic Tests for Barth Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Barth Syndrome:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 220 22 TAZ

Anatomical Context for Barth Syndrome

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32MalaCards
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MalaCards organs/tissues related to Barth Syndrome:

32
Heart, Skeletal muscle, Eye, T cells, Testes, Skin, Pituitary

Animal Models for Barth Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Barth Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6LDB3, PLA2G6, HCCS, DMD, PDLIM5, DTNA

Publications for Barth Syndrome

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50PubMed
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Articles related to Barth Syndrome:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Tafazzin splice variants and mutations in Barth syndrome. (24342716)
2014
2
Barth syndrome in adulthood: a clinical case. (23485191)
2013
3
Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. (23410936)
2013
4
Advances in the understanding of Barth syndrome. (23432031)
2013
5
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. (23109063)
2013
6
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. (23361305)
2013
7
The cellular and molecular mechanisms for neutropenia in Barth syndrome. (22023389)
2012
8
Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome. (22721508)
2012
9
Barth syndrome mutations that cause tafazzin complex lability. (21300850)
2011
10
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. (20812380)
2010
11
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (20303308)
2010
12
Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome. (20651830)
2010
13
Barth syndrome: an X-linked cardiomyopathy with a novel mutation. (20981509)
2010
14
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. (19962311)
2009
15
Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome. (19164547)
2009
16
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. (19261493)
2009
17
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome. (18799610)
2008
18
Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction. (18365900)
2008
19
Barth syndrome is associated with a cognitive phenotype. (17353728)
2007
20
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. (17394203)
2007
21
Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. (17241629)
2007
22
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. (16880272)
2006
23
A Drosophila model of Barth syndrome. (16855048)
2006
24
Cardiac and clinical phenotype in Barth syndrome. (16847078)
2006
25
Barth syndrome, a human disorder of cardiolipin metabolism. (16973164)
2006
26
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. (16857210)
2006
27
Clinicopathologic conference: Barth Syndrome. (16396830)
2005
28
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. (16235007)
2005
29
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. (15805542)
2005
30
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. (14651618)
2004
31
A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome. (12529714)
2003
32
Phospholipid abnormalities in children with Barth syndrome. (14662265)
2003
33
Little known killer: Barth syndrome. (12806708)
2003
34
Postinflammatorial stenoses of the pharynx in a child with Barth-syndrome. (12623146)
2003
35
Normal pituitary function in a Japanese patient with Barth syndrome. (11808885)
2002
36
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. (12410207)
2002
37
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. (12194913)
2002
38
Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome. (12032589)
2002
39
Preliminary evidence for a cognitive phenotype in Barth syndrome. (11503166)
2001
40
Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome. (11430723)
2001
41
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. (10484787)
1999
42
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). (10407787)
1999
43
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. (10484795)
1999
44
Mutation characterization and genotype-phenotype correlation in Barth syndrome. (9345098)
1997
45
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. (9382097)
1997
46
Heart transplantation for Barth syndrome. (9049131)
1997
47
Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. (9358581)
1997
48
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. (8739954)
1996
49
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. (7616547)
1995
50
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. (1998334)
1991

Genetic Variations for Barth Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Barth Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TAZp.Arg94SerVAR_014110
2TAZp.Cys118ArgVAR_014111
3TAZp.Gly197ArgVAR_014112
4TAZp.Gly240ArgVAR_068434

Expression for genes affiliated with Barth Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Barth Syndrome

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Pathways for genes affiliated with Barth Syndrome

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51QIAGEN, 53Reactome, 29KEGG
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Compounds for genes affiliated with Barth Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Barth Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1bromoenol lactone4410.0PLA2G6, ANXA5
2lysophospholipid4410.0DBT, PLA2G6
3cardiolipin44 1110.9ANXA5, TAZ, PLA2G6
47beta-hydroxycholesterol449.9TTR, ANXA5
5phosphatidylethanolamine44 1110.9PLA2G6, TAZ, ANXA5
6succinate449.7DMD, PLA2G6, CPOX
7fatty acid449.6CPOX, PLA2G6, TAZ, DBT
8hoechst 33342449.4DMD, ANXA5
9cyclosporin a44 28 5911.1PLA2G6, TTR, ANXA5, DMD
10phospholipid449.1CPOX, DMD, ANXA5, DBT, TAZ, PLA2G6
11lipid448.8DMD, TOMM40, ANXA5, DBT, TAZ, PLA2G6
12atp44 289.0TIMM17A, AMPD1, DMD, TOMM40, ANXA5, TAZ

GO Terms for genes affiliated with Barth Syndrome

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16Gene Ontology
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Cellular components related to Barth Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.6CPOX, TAZ, DNAJC19, HCCS
2mitochondrial outer membrane translocase complexGO:0057429.3TOMM40, TOMM5
3mitochondrionGO:0057398.2CPOX, TOMM5, TOMM40, HCCS, DNAJC19, DBT

Biological processes related to Barth Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cardiolipin biosynthetic processGO:0320499.7PLA2G6, TAZ
2cardiolipin acyl-chain remodelingGO:0359659.5PLA2G6, TAZ, LCLAT1
3glycerophospholipid biosynthetic processGO:0464749.5PLA2G6, TAZ, LCLAT1
4protein targeting to mitochondrionGO:0066268.5TIMM17A, TOMM5, TOMM40, DNAJC19

Products for genes affiliated with Barth Syndrome

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  • Antibodies
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Sources for Barth Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet