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, endocardium anomalies/fibroelastosis/endocarditis and x-linked recessive inheritance. 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, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 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
  • endocardium anomalies/fibroelastosis/endocarditis
  • x-linked recessive inheritance
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • 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:

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Drug clinical trials:

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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, Pituitary, T cells, Skin, Testes

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
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
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. (23190323)
2013
4
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. (23606313)
2013
5
Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. (22580961)
2013
6
Seven functional classes of Barth syndrome mutation. (23100323)
2013
7
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. (23792436)
2013
8
Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and lifespan defects in the tafazzin mutant: Implications for Barth syndrome. (24318983)
2013
9
Natural history of Barth syndrome: a national cohort study of 22 patients. (23656970)
2013
10
Barth syndrome. (23398819)
2013
11
Novel mutations in the TAZ gene in patients with Barth syndrome. (24093814)
2013
12
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. (23045169)
2012
13
The cellular and molecular mechanisms for neutropenia in Barth syndrome. (22023389)
2012
14
Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. (21987083)
2012
15
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. (23031367)
2012
16
A mixed-methods investigation of sensory response patterns in Barth syndrome: a clinical phenotype? (22711649)
2012
17
Eponym: Barth syndrome. (21947198)
2011
18
Barth syndrome mutations that cause tafazzin complex lability. (21300850)
2011
19
Dysmorphology of Barth syndrome. (19648820)
2009
20
Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome. (19164547)
2009
21
Psychosocial Functioning in Youth with Barth Syndrome. (20808735)
2009
22
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. (19261493)
2009
23
Mitochondrial defects lie at the basis of neutropenia in Barth syndrome. (19057200)
2009
24
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: first case report and determination of annular diameter. (18954662)
2008
25
Gene symbol: TAZ. Disease: Barth syndrome. (18846664)
2008
26
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. (18070816)
2008
27
New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. (16904369)
2007
28
Barth syndrome is associated with a cognitive phenotype. (17353728)
2007
29
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography. (17043667)
2007
30
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
31
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. (16906470)
2006
32
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. (16857210)
2006
33
Cardiolipin metabolism and Barth Syndrome. (16442164)
2006
34
Hypomagnesemia in a patient with Barth syndrome. (15921184)
2005
35
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. (16135531)
2005
36
Barth syndrome: TAZ gene mutations, mRNAs, and evolution. (15793838)
2005
37
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
38
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. (15098233)
2004
39
Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. (15499385)
2004
40
Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment. (12562862)
2003
41
Phospholipid abnormalities in children with Barth syndrome. (14662265)
2003
42
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (14654353)
2003
43
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (11238270)
2001
44
Gross motor development of a toddler with barth syndrome, an x-linked recessive disorder: a case report. (17053636)
2001
45
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. (11735032)
2001
46
X chromosome inactivation in carriers of Barth syndrome. (9792874)
1998
47
Barth syndrome may be due to an acyltransferase deficiency. (9259571)
1997
48
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. (7616547)
1995
49
Barth syndrome: clinical observations and genetic linkage studies. (8042670)
1994
50
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. (8434619)
1993

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
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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