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:

Search ClinicalTrials for Barth Syndrome

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. (23843353)
2013
3
New clinical and molecular insights on Barth syndrome. (23409742)
2013
4
Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. (23410936)
2013
5
Advances in the understanding of Barth syndrome. (23432031)
2013
6
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. (23109063)
2013
7
Barth syndrome in adulthood: a clinical case. (22999963)
2013
8
A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. (23678274)
2013
9
Haematological features in Barth syndrome. (23041719)
2013
10
Barth syndrome in a female patient. (22410210)
2012
11
Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation. (22427193)
2012
12
Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome. (22721508)
2012
13
Emergence and nature of mathematical difficulties in young children with Barth syndrome. (22566029)
2012
14
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. (21068380)
2011
15
Impaired cardiac reserve and severely diminished skeletal muscle Oa88 utilization mediate exercise intolerance in Barth syndrome. (21873497)
2011
16
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. (21932011)
2011
17
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (20303308)
2010
18
Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome. (20651830)
2010
19
Barth syndrome: an X-linked cardiomyopathy with a novel mutation. (20981509)
2010
20
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. (19962311)
2009
21
Psychosocial Functioning in Youth with Barth Syndrome. (20808735)
2009
22
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. (19454236)
2009
23
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome. (19396829)
2009
24
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome. (18799610)
2008
25
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. (19037987)
2008
26
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. (17846786)
2008
27
New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. (16904369)
2007
28
Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients. (17430492)
2007
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
Cardiac and clinical phenotype in Barth syndrome. (16847078)
2006
32
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. (16873891)
2006
33
Stroke associated with Barth syndrome. (16970891)
2006
34
Clinicopathologic conference: Barth Syndrome. (16396830)
2005
35
Characterization of lymphoblast mitochondria from patients with Barth syndrome. (15806137)
2005
36
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. (15805542)
2005
37
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. (15304507)
2004
38
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. (15098233)
2004
39
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. (14651618)
2004
40
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. (14764526)
2004
41
Little known killer: Barth syndrome. (12806708)
2003
42
Normal pituitary function in a Japanese patient with Barth syndrome. (11808885)
2002
43
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. (12112112)
2002
44
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. (12194913)
2002
45
Preliminary evidence for a cognitive phenotype in Barth syndrome. (11503166)
2001
46
Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome. (11430723)
2001
47
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. (11118295)
2000
48
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. (10484787)
1999
49
Mutation characterization and genotype-phenotype correlation in Barth syndrome. (9345098)
1997
50
A novel X-linked gene, G4.5. is responsible for Barth syndrome. (8630491)
1996

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
  • Proteins
  • Lysates
  • Antibodies

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