BTHS
MCID: BRT005
MIFTS: 64

Barth Syndrome (BTHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Blood diseases, Cardiovascular diseases categories
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Summaries for Barth Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 cardioskeletal myopathy with neutropenia and abnormal mitochondria, 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 Mitochondrial Protein Import. The compounds 7beta-hydroxycholesterol and lysophospholipid have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and eye, and related mouse phenotypes are muscle and growth/size/body.

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.

Genetics Home Reference:21 Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.

NIH Rare Diseases:43 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:65 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

Description from OMIM:47 302060

Aliases & Classifications for Barth Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 62UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 43 21 44 47 10 45 49
cardioskeletal myopathy with neutropenia and abnormal mitochondria 43 21 49
3-methylglutaconic aciduria type ii 43 20 22
3-methylglutaconic aciduria type 2 21 49 62
mga type ii 8 43 21
bths 43 21 49
mga type 2 8 21
x-linked cardioskeletal myopathy and neutropenia 49
3 methylglutaconic aciduria, type ii 21
3-@methylglutaconic aciduria, type i 62
cardioskeletal myopathy-neutropenia 49
3-methylglutaconicaciduria type ii 8
3-methylglutaconicaciduria type 2 8
dnajc19 defect 21
taz defect 21
mga2 49


External Ids:

Disease Ontology8 DOID:0050476
MeSH35 D056889
OMIM47 302060
MESH via Orphanet36 D056889
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet59 297231002
UMLS via Orphanet63 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

Symptoms for Barth Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

302060

Clinical features from OMIM:

302060

Symptoms:

49
  • 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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Barth Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Barth Syndrome:

33
Heart, Skeletal muscle, Eye, T cells, Testes, Skin, Pituitary

Animal Models for Barth Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Barth Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1DMD, WWTR1, DTNA, LDB3, PLA2G6, PDLIM5
2MP:00053787.3DMD, WWTR1, DTNA, LDB3, PLA2G6, LCLAT1
3MP:00107687.2ZBTB18, DMD, DBT, WWTR1, DTNA, LDB3
4MP:00053866.5PDLIM5, DMD, DBT, WWTR1, DTNA, LDB3

Publications for Barth Syndrome

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52PubMed
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Articles related to Barth Syndrome:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Barth syndrome. (23843353)
2013
2
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. (23523468)
2013
3
New clinical and molecular insights on Barth syndrome. (23409742)
2013
4
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. (23190323)
2013
5
Barth syndrome in adulthood: a clinical case. (23485191)
2013
6
Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. (23410936)
2013
7
Barth syndrome in a female patient. (22410210)
2012
8
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. (23045169)
2012
9
The cellular and molecular mechanisms for neutropenia in Barth syndrome. (22023389)
2012
10
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. (21068380)
2011
11
Eponym: Barth syndrome. (21947198)
2011
12
Impaired cardiac reserve and severely diminished skeletal muscle Oa88 utilization mediate exercise intolerance in Barth syndrome. (21873497)
2011
13
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. (20812380)
2010
14
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (20303308)
2010
15
Dysmorphology of Barth syndrome. (19648820)
2009
16
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. (19962311)
2009
17
Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome. (19164547)
2009
18
Psychosocial Functioning in Youth with Barth Syndrome. (20808735)
2009
19
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. (19261493)
2009
20
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome. (18799610)
2008
21
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: first case report and determination of annular diameter. (18954662)
2008
22
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. (19037987)
2008
23
Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction. (18365900)
2008
24
Gene symbol: TAZ. Disease: Barth syndrome. (18846664)
2008
25
New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. (16904369)
2007
26
Barth syndrome is associated with a cognitive phenotype. (17353728)
2007
27
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. (17394203)
2007
28
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. (16055927)
2006
29
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. (16880272)
2006
30
A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. (16794186)
2006
31
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. (16906470)
2006
32
A Drosophila model of Barth syndrome. (16855048)
2006
33
Cardiac and clinical phenotype in Barth syndrome. (16847078)
2006
34
Barth syndrome, a human disorder of cardiolipin metabolism. (16973164)
2006
35
Clinicopathologic conference: Barth Syndrome. (16396830)
2005
36
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
37
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. (15304507)
2004
38
Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment. (12562862)
2003
39
Normal pituitary function in a Japanese patient with Barth syndrome. (11808885)
2002
40
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. (12112112)
2002
41
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. (12410207)
2002
42
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. (12194913)
2002
43
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (11238270)
2001
44
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. (11118295)
2000
45
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. (10484787)
1999
46
X chromosome inactivation in carriers of Barth syndrome. (9792874)
1998
47
Barth syndrome may be due to an acyltransferase deficiency. (9259571)
1997
48
Mutation characterization and genotype-phenotype correlation in Barth syndrome. (9345098)
1997
49
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. (8434619)
1993
50
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. (1998334)
1991

Variations for Barth Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Barth Syndrome:

64
id Symbol AA change Variation ID SNP ID
1TAZp.Arg94SerVAR_014110
2TAZp.Cys118ArgVAR_014111
3TAZp.Gly197ArgVAR_014112
4TAZp.Gly240ArgVAR_068434

Clinvar genetic disease variations for Barth Syndrome:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1TAZTAZ, IVS2, G-A, -1single nucleotide variantPathogenic
2TAZNM_000116.3(TAZ): c.153C> G (p.Tyr51Ter)single nucleotide variantPathogenicrs104894941GRCh37Chr X, 153640466: 153640466
3TAZTAZ, IVS2, G-C, -1single nucleotide variantPathogenic
4TAZTAZ, 1-BP INSinsertionPathogenic
5TAZTAZ, 1-BP DELdeletionPathogenic
6TAZNM_000116.3(TAZ): c.589G> A (p.Gly197Arg)single nucleotide variantPathogenicrs132630277GRCh37Chr X, 153648376: 153648376
7TAZTAZ, IVS1, G-C, +5single nucleotide variantPathogenic
8TAZTAZ, IVS3, G-A, +110single nucleotide variantPathogenic
9TAZNM_000116.3(TAZ): c.352T> C (p.Cys118Arg)single nucleotide variantPathogenicrs104894937GRCh37Chr X, 153641886: 153641886
10TAZTAZ, IVS1, A-G, -2single nucleotide variantPathogenic
11TAZNM_000116.3(TAZ): c.280C> A (p.Arg94Ser)single nucleotide variantPathogenicrs104894942GRCh37Chr X, 153641585: 153641585
12TAZTAZ, 4-BP DEL, AGTGdeletionPathogenic
13TAZNM_000116.3(TAZ): c.647-1G> Csingle nucleotide variantPathogenicGRCh37Chr X, 153648550: 153648550
14TAZNM_000116.3(TAZ): c.718G> A (p.Gly240Arg)single nucleotide variantPathogenicrs387907218GRCh37Chr X, 153649015: 153649015
15TAZNM_000116.3(TAZ): c.310T> C (p.Phe104Leu)single nucleotide variantPathogenicrs397515741GRCh37Chr X, 153641844: 153641844

Expression for genes affiliated with Barth Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Barth Syndrome

Search GEO for disease gene expression data for Barth Syndrome.

Pathways for genes affiliated with Barth Syndrome

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50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Barth Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7DTNA, DMD
29.3TAZ, DNAJC19, TOMM40, TIMM17A
3
Show member pathways
9.3TAZ, DNAJC19, TOMM40, TIMM17A
4
Show member pathways
9.1PLA2G6, LCLAT1, TAZ
5
Show member pathways
8.1DBT, AMPD1, WWTR1, PLA2G6, LCLAT1, TAZ

Compounds for genes affiliated with Barth Syndrome

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45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 61Tocris Bioscience
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Compounds related to Barth Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
17beta-hydroxycholesterol45 2911.2ANXA5, TTR
2lysophospholipid4510.1PLA2G6, DBT
3bromoenol lactone4510.1PLA2G6, ANXA5
4hoechst 333424510.0DMD, ANXA5
5cardiolipin45 1110.9TAZ, PLA2G6, ANXA5
6phosphatidylethanolamine45 1110.9ANXA5, PLA2G6, TAZ
7quinacrine45 1110.9DBT, PLA2G6
8ndga459.8PLA2G6, ANXA5
9lidocaine45 29 1111.7PLA2G6, ANXA5
10phosphatidylcholine459.7TAZ, PLA2G6, ANXA5
11phosphatidylserine45 29 1111.7PLA2G6, ANXA5, TTR
12glycerol45 24 1111.6DMD, TTR, PLA2G6
13lysophosphatidylcholine29 4510.6PLA2G6, DBT
14cyclosporin a45 29 6111.4DMD, TTR, ANXA5, PLA2G6
15adenylate459.4PLA2G6, AMPD1, TTR, DMD
16Heptadecanoyl CoA249.3LCLAT1, PLA2G6, DBT
17phospholipid459.3DMD, DBT, ANXA5, PLA2G6, TAZ
18lipid459.0DMD, DBT, TOMM40, ANXA5, PLA2G6, TAZ
19atp45 299.5TAZ, PLA2G6, ANXA5, TOMM40, AMPD1, TIMM17A

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
1protein complexGO:0432349.4DTNA, TTR, DMD
2mitochondrionGO:0057398.9TAZ, PLA2G6, DNAJC19, TOMM40, DBT

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiolipin biosynthetic processGO:03204910.0TAZ, PLA2G6
2cardiac muscle contractionGO:0600489.9TAZ, DMD
3response to organic substanceGO:0100339.6ANXA5, AMPD1
4protein targeting to mitochondrionGO:0066269.6DNAJC19, TOMM40, TIMM17A
5cardiolipin acyl-chain remodelingGO:0359659.2TAZ, LCLAT1, PLA2G6
6glycerophospholipid biosynthetic processGO:0464749.1PLA2G6, LCLAT1, TAZ
7phospholipid metabolic processGO:0066449.0TAZ, LCLAT1, PLA2G6

Molecular functions related to Barth Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:0050809.9PDLIM5, LDB3

Products for genes affiliated with Barth Syndrome

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  • Antibodies
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Sources for Barth Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet