BTHS
MCID: BRT005
MIFTS: 54

Barth Syndrome (BTHS) malady

Neuronal, Eye, Metabolic, Blood, Cardiovascular categories

Summaries for Barth Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 3-methylglutaconic aciduria type ii, is related to n syndrome and left ventricular noncompaction, and has symptoms including cardiomyopathy/hypertrophic/dilated, abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase 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 skin, heart and skeletal muscle, 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: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:64 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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic, Blood, Cardiovascular


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 44 47 10 45 49
3-methylglutaconic aciduria type ii 43 20 22
cardioskeletal myopathy with neutropenia and abnormal mitochondria 43 49
3-methylglutaconic aciduria type 2 49 61
mga type ii 8 43
bths 43 49
x-linked cardioskeletal myopathy and neutropenia 49
3-@methylglutaconic aciduria, type i 61
cardioskeletal myopathy-neutropenia 49
3-methylglutaconicaciduria type ii 8
3-methylglutaconicaciduria type 2 8
mga type 2 8
mga2 49


External Ids:

Disease Ontology8 DOID:0050476
MeSH35 D056889
OMIM47 302060
MESH via Orphanet36 D056889
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet58 297231002
UMLS via Orphanet62 C0574083

Related Diseases for Barth Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Barth Syndrome:



Diseases related to barth syndrome

Clinical Features for Barth Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

302060

Clinical synopsis from OMIM:

302060

Symptoms:

49 (see all 5)
  • cardiomyopathy/hypertrophic/dilated
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • x-linked recessive inheritance
  • endocardium anomalies/fibroelastosis/endocarditis
  • polynuclear cells/neutrophils anomalies/neutropenia

Drugs & Therapeutics for Barth Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Barth Syndrome:

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

Anatomical Context for Barth Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Barth Syndrome:

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

Animal Models for Barth Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Barth Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6LDB3, PLA2G6, HCCS, DMD, PDLIM5, DTNA

Publications for Barth Syndrome

Sources:
51PubMed
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Articles related to Barth Syndrome:

(show top 50)    (show all 117)
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
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. (23606313)
2013
6
Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. (22580961)
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
Seven functional classes of Barth syndrome mutation. (23100323)
2013
10
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. (23792436)
2013
11
Barth syndrome. (23398819)
2013
12
Haematological features in Barth syndrome. (23041719)
2013
13
Barth syndrome in a female patient. (22410210)
2012
14
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
15
Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. (21987083)
2012
16
Emergence and nature of mathematical difficulties in young children with Barth syndrome. (22566029)
2012
17
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. (21068380)
2011
18
Impaired cardiac reserve and severely diminished skeletal muscle Oa88 utilization mediate exercise intolerance in Barth syndrome. (21873497)
2011
19
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
20
Dysmorphology of Barth syndrome. (19648820)
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
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: first case report and determination of annular diameter. (18954662)
2008
25
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. (19037987)
2008
26
Gene symbol: TAZ. Disease: Barth syndrome. (18846664)
2008
27
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. (17846786)
2008
28
New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. (16904369)
2007
29
Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients. (17430492)
2007
30
A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. (16794186)
2006
31
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. (16873891)
2006
32
Stroke associated with Barth syndrome. (16970891)
2006
33
Cardiolipin metabolism and Barth Syndrome. (16442164)
2006
34
Characterization of lymphoblast mitochondria from patients with Barth syndrome. (15806137)
2005
35
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. (16135531)
2005
36
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. (15805542)
2005
37
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
38
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. (15304507)
2004
39
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. (15098233)
2004
40
Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. (15499385)
2004
41
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. (14651618)
2004
42
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. (14764526)
2004
43
Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment. (12562862)
2003
44
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (14654353)
2003
45
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. (12112112)
2002
46
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (11238270)
2001
47
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). (11241464)
2001
48
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. (11118295)
2000
49
Barth syndrome may be due to an acyltransferase deficiency. (9259571)
1997
50
A novel X-linked gene, G4.5. is responsible for Barth syndrome. (8630491)
1996

Genetic Variations for Barth Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Barth Syndrome:

63
id Symbol AA change Variation SNP ID
1TAZp.Arg94SerVAR_014110
2TAZp.Cys118ArgVAR_014111
3TAZp.Gly197ArgVAR_014112
4TAZp.Gly240ArgVAR_068434

Expression for genes affiliated with Barth Syndrome

Sources:
1BioGPS, 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

Sources:
52QIAGEN, 54Reactome, 30KEGG
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Compounds for genes affiliated with Barth Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Barth Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1bromoenol lactone4510.0PLA2G6, ANXA5
2lysophospholipid4510.0DBT, PLA2G6
3cardiolipin45 1110.9ANXA5, TAZ, PLA2G6
47beta-hydroxycholesterol459.9TTR, ANXA5
5phosphatidylethanolamine45 1110.9PLA2G6, TAZ, ANXA5
6succinate459.7DMD, PLA2G6, CPOX
7fatty acid459.6CPOX, PLA2G6, TAZ, DBT
8hoechst 33342459.4DMD, ANXA5
9cyclosporin a45 29 6011.1PLA2G6, TTR, ANXA5, DMD
10phospholipid459.1CPOX, DMD, ANXA5, DBT, TAZ, PLA2G6
11lipid458.8DMD, TOMM40, ANXA5, DBT, TAZ, PLA2G6
12atp45 299.0TIMM17A, AMPD1, DMD, TOMM40, ANXA5, TAZ

GO Terms for genes affiliated with Barth Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Barth Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet