Barth Syndrome (BTHS)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Barth Syndrome

MalaCards integrated aliases for Barth Syndrome:

Name: Barth Syndrome 57 12 73 25 20 43 53 58 72 36 13 54 44 15 39
3-Methylglutaconic Aciduria Type 2 43 58 72 29 6 70
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 57 20 43 58 72
Bths 57 20 43 58 72
Mga Type Ii 12 20 43 72
Mga2 57 58 72
3-Methylglutaconic Aciduria Type Ii 20 72
Mga Type 2 12 43
Taz Defect 20 43
Mgca2 57 72
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 72
Left Ventricular Non-Compaction Isolated X-Linked 72
X-Linked Cardioskeletal Myopathy and Neutropenia 58
Cardioskeletal Myopathy-Neutropenia Syndrome 58
3-Methylglutaconic Aciduria, Type Ii; Mgca2 57
Agammaglobulinemia 2, Autosomal Recessive 70
3-Alpha-Methylglutaconic Aciduria Type 2 72
3-Methylglutaconic Aciduria, Type Ii 57
3 Methylglutaconic Aciduria, Type Ii 43
Cardioskeletal Myopathy-Neutropenia 72
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Mga, Type Ii; Mga2 57
Dnajc19 Defect 43
Mga, Type Ii 57
Agm2 72
Invm 72


Orphanet epidemiological data:

barth syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United States),1-9/1000000 (United Kingdom); Age of onset: Childhood; Age of death: any age;


57 (Updated 20-May-2021)
x-linked recessive

striking intrafamilial variability
neuromuscular, cardiovascular, and infectious symptoms improve with age
dramatic late catch-up growth occurs in adolescence


barth syndrome:
Inheritance x-linked recessive inheritance


Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare immunological diseases

External Ids:

Disease Ontology 12 DOID:0050476
OMIM® 57 302060
OMIM Phenotypic Series 57 PS250950
KEGG 36 H00654
MeSH 44 D056889
NCIt 50 C84585
SNOMED-CT 67 297231002
ICD10 32 E78.71
MESH via Orphanet 45 D056889
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C0574083
Orphanet 58 ORPHA111
MedGen 41 C0574083
UMLS 70 C0574083 C3150750

Summaries for Barth Syndrome

MedlinePlus Genetics : 43 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.In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within the first months of life. Over time, the heart muscle becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some areas of the heart muscle, which contributes to the cardiomyopathy. This condition is called endocardial fibroelastosis; it results in thickening of the muscle and impairs its ability to pump blood. In people with Barth syndrome, the heart problems can lead to heart failure. In rare cases, the cardiomyopathy gets better over time and affected individuals eventually have no symptoms of heart disease.In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the center of the body (proximal muscles), is usually noticeable from birth and causes low muscle tone (hypotonia). The muscle weakness often causes delay of motor skills such as crawling and walking. Additionally, affected individuals tend to experience extreme tiredness (fatigue) during strenuous physical activity.Most males with Barth syndrome have neutropenia. The levels of white blood cells can be consistently low (persistent), can vary from normal to low (intermittent), or can cycle between regular episodes of normal and low (cyclical). Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, so affected individuals have an increased risk of recurrent infections.Newborns with Barth syndrome are often smaller than normal, and their growth continues to be slow throughout life. Some boys with this condition experience a growth spurt in puberty and are of average height as adults, but many men with Barth syndrome continue to have short stature in adulthood.Males with Barth syndrome often have distinctive facial features including prominent cheeks. Affected individuals typically have normal intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles.Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. The amount of the acid does not appear to influence the signs and symptoms of the condition. Barth syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria).Even though most features of Barth syndrome are present at birth or in infancy, affected individuals may not experience health problems until later in life. The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. The severity of signs and symptoms among affected individuals is also highly variable.Males with Barth syndrome have a reduced life expectancy. Many affected children die of heart failure or infection in infancy or early childhood, but those who live into adulthood can survive into their late forties.

MalaCards based summary : Barth Syndrome, also known as 3-methylglutaconic aciduria type 2, is related to 3-methylglutaconic aciduria, type iv and sengers syndrome, and has symptoms including fatigue and proximal weakness. An important gene associated with Barth Syndrome is TAFAZZIN (Tafazzin, Phospholipid-Lysophospholipid Transacylase), and among its related pathways/superpathways are Glycerophospholipid metabolism and Acyl chain remodelling of PE. The drug pyruvate has been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and eye, and related phenotypes are dilated cardiomyopathy and abnormality of neutrophils

Disease Ontology : 12 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.

GARD : 20 Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, 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. Barth syndrome 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.

OMIM® : 57 Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (302060) (Updated 20-May-2021)

NINDS : 53 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 heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell count, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, 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 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 typically 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 but typically will not have symptoms.

KEGG : 36 Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy, cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved in the metabolism of cardiolipin localized in the inner mitochondrial membrane.

UniProtKB/Swiss-Prot : 72 Barth syndrome: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.

Wikipedia : 73 Barth syndrome (BTHS) is an X-linked genetic disorder. The disorder, which affects multiple body... more...

GeneReviews: NBK247162

Related Diseases for Barth Syndrome

Diseases related to Barth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iv 32.4 TMEM70 SERAC1
2 sengers syndrome 31.8 TMEM70 TAFAZZIN SERAC1 DNAJC19 AGK
3 3-methylglutaconic aciduria, type v 31.5 TMEM70 TIMM17A TAMM41 TAFAZZIN SERAC1 DNAJC19
4 endocardial fibroelastosis 31.3 TAFAZZIN LDB3 DTNA DNASE1L1 DNAJC19
5 dilated cardiomyopathy 31.1 TAFAZZIN SDHA MYBPC3 LDB3 DTNA DNAJC19
6 3-methylglutaconic aciduria 31.0 TMEM70 TAFAZZIN SERAC1 DNASE1L1 DNAJC19 AGK
8 organic acidemia 30.8 TMEM70 TAFAZZIN SERAC1 DNAJC19
9 left ventricular noncompaction 30.7 TMEM70 TAFAZZIN MYBPC3 LDB3 DTNA DNASE1L1
10 hypertrophic cardiomyopathy 30.5 TTR TAFAZZIN MYBPC3 LDB3 DTNA AGK
11 left ventricular noncompaction 1 30.4 LDB3 DTNA
12 3-methylglutaconic aciduria, type i 30.3 TMEM70 SERAC1 DNAJC19
13 3-methylglutaconic aciduria, type iii 30.1 TMEM70 TAFAZZIN SERAC1 LCLAT1 DNAJC19 AGK
14 agammaglobulinemia 2, autosomal recessive 11.2
15 neutropenia 10.8
16 atrial standstill 1 10.5
17 hypotonia 10.4
18 cyclic neutropenia 10.4
19 lactic acidosis 10.4
20 hypoglycemia 10.3
21 neurodegeneration with brain iron accumulation 2b 10.3 PNPLA8 PLA2G6
22 cataract 38 10.3 SDHA AGK
23 mitochondrial myopathy 10.3
24 ebstein anomaly 10.3 MYBPC3 LDB3 DTNA
25 intrinsic cardiomyopathy 10.3 TAFAZZIN MYBPC3 LDB3
26 mitochondrial complex v deficiency, nuclear type 5 10.3 TMEM70 AGK
27 neurodegeneration with brain iron accumulation 2a 10.3 PNPLA8 PLA2G6
28 mohr-tranebjaerg syndrome 10.2 TIMM17A SERAC1 DNAJC19 AGK
29 restrictive cardiomyopathy 10.2 TTR MYBPC3 LDB3
30 fumarase deficiency 10.2 TMEM70 SDHA
31 x-linked recessive disease 10.2
32 bacterial infectious disease 10.2
33 cone-rod dystrophy 1 10.2 TAMM41 TAFAZZIN
34 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.2 TMEM70 TAFAZZIN SERAC1 DNAJC19 AGK
35 cardiac conduction defect 10.1
36 heart disease 10.1
37 brugada syndrome 1 10.0 MYBPC3 LDB3
38 cardiac arrhythmia 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 metabolic acidosis 10.0
41 respiratory failure 10.0
42 mitochondrial metabolism disease 10.0
43 mitochondrial disorders 10.0
44 muscular lipidosis 10.0
45 wolff-parkinson-white syndrome 10.0
46 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
47 fibrosis of extraocular muscles, congenital, 1 9.9
48 phosphoglycoprotein 1 9.9
49 cystic fibrosis 9.9
50 batten-turner congenital myopathy 9.9

Graphical network of the top 20 diseases related to Barth Syndrome:

Diseases related to Barth Syndrome

Symptoms & Phenotypes for Barth Syndrome

Human phenotypes related to Barth Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
3 endocardial fibroelastosis 58 31 frequent (33%) Frequent (79-30%) HP:0001706
4 abnormal mitochondrial morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008322
5 talipes equinovarus 31 occasional (7.5%) HP:0001762
6 neutropenia 31 occasional (7.5%) HP:0001875
7 organic aciduria 31 occasional (7.5%) HP:0001992
8 failure to thrive 31 HP:0001508
9 gait disturbance 31 HP:0001288
10 macrotia 31 HP:0000400
11 mandibular prognathia 31 HP:0000303
12 fatigue 31 HP:0012378
13 full cheeks 31 HP:0000293
14 congestive heart failure 31 HP:0001635
15 growth delay 31 HP:0001510
16 hypertrophic cardiomyopathy 31 HP:0001639
17 motor delay 31 HP:0001270
18 arrhythmia 31 HP:0011675
19 deeply set eye 31 HP:0000490
20 broad forehead 31 HP:0000337
21 round face 31 HP:0000311
22 3-methylglutaconic aciduria 31 HP:0003535
23 myopathic facies 31 HP:0002058
24 exercise intolerance 31 HP:0003546
25 skeletal myopathy 31 HP:0003756
26 granulocytopenia 31 HP:0001913
27 intermittent lactic acidemia 31 HP:0004913
28 recurrent infections in infancy and early childhood 31 HP:0005437

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
growth retardation

Head And Neck Face:
full cheeks
round face
myopathic facies
prominent chin
tall, broad forehead

Metabolic Features:
intermittent lactic acidemia

Head And Neck Ears:
large ears

Skeletal Feet:
talipes equinovarus (in some patients)

neutropenia (in some patients)

Prenatal Manifestations:
fetal demise, male

Muscle Soft Tissue:
exercise intolerance
skeletal myopathy
proximal weakness
abnormal gait

Cardiovascular Heart:
congestive heart failure
hypertrophic cardiomyopathy
dilated cardiomyopathy
endocardial fibroelastosis
cardiac arrhythmias
recurrent infections in infancy and early childhood

Head And Neck Eyes:
deep-set eyes

Neurologic Central Nervous System:
delayed motor milestones

nasal quality to speech

Laboratory Abnormalities:
organic aciduria, mild (in some patients)
elevated urinary 3-methylglutaconate
elevated urinary 3-methylglutarate
elevated urinary 2-ethylhydracrylate

Clinical features from OMIM®:

302060 (Updated 20-May-2021)

UMLS symptoms related to Barth Syndrome:

fatigue; proximal weakness

Drugs & Therapeutics for Barth Syndrome

Drugs for Barth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 pyruvate

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Trial to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Barth Syndrome Followed by an Open-Label Treatment Extension Active, not recruiting NCT03098797 Phase 2, Phase 3 Elamipretide
2 Effects of Resistance Exercise Training on Cardiac, Metabolic and Muscle Function and Quality of Life in Barth Syndrome Completed NCT01629459
3 Heart and Skeletal Muscle Metabolism, Energetics and Function in Barth Syndrome Completed NCT01625663
4 Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome Completed NCT01194141
5 Dietary Therapy for Inherited Disorders of Energy Metabolism No longer available NCT01461304 triheptanoin

Search NIH Clinical Center for Barth Syndrome

Cochrane evidence based reviews: barth syndrome

Genetic Tests for Barth Syndrome

Genetic tests related to Barth Syndrome:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 2 29 TAFAZZIN

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

Heart, Skeletal Muscle, Eye, Brain, Neutrophil, Skin, Myeloid

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 425)
# Title Authors PMID Year
Dysmorphology of Barth syndrome. 57 25 54 61 6
19648820 2009
Mutation characterization and genotype-phenotype correlation in Barth syndrome. 54 61 57 25 6
9345098 1997
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. 25 57 6 54 61
7616547 1995
New targets for monitoring and therapy in Barth syndrome. 25 57 6 61
26845103 2016
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. 61 25 6 57
20812380 2010
Barth syndrome: clinical observations and genetic linkage studies. 61 57 6 25
8042670 1994
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. 25 6 57 61
8434619 1993
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. 61 54 57 6
17394203 2007
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. 54 6 57 61
15098233 2004
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. 57 6 54 61
12468278 2002
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 6 57 54 61
9382096 1997
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 61 6 57 54
8630491 1996
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. 6 25 57
1719174 1991
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. 61 6 54 25
16873891 2006
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. 54 61 25 6
16548007 2006
X chromosome inactivation in carriers of Barth syndrome. 25 57 61 54
9792874 1998
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. 61 6 57
9332651 1997
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. 61 57 6
9382097 1997
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. 6 57 61
1998334 1991
Natural history of Barth syndrome: a national cohort study of 22 patients. 61 25 6
23656970 2013
New clinical and molecular insights on Barth syndrome. 61 25 6
23409742 2013
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. 61 25 57
12112112 2002
Two cases of endocardial fibroelastosis--possible x-linked determination. 57 6
4685904 1973
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. 6 61 54
16880272 2006
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 6 54 61
16427346 2006
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. 6 61 54
11735032 2001
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 61 54 6
11238270 2001
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. 57 54 61
11118295 2000
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. 61 54 57
10484795 1999
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. 57 25
7833193 1994
Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism. 57 25
3411399 1988
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. 57 25
6142097 1983
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. 6 61
28123175 2017
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 6 61
28183324 2017
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? 6 61
26724946 2016
Cardiomyopathy in a male patient with neutropenia and growth delay. 6 61
24887148 2014
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. 61 6
23361305 2013
Barth syndrome mutations that cause tafazzin complex lability. 6 61
21300850 2011
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. 61 57
21068380 2011
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome. 6 61
19396829 2009
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. 61 54 25
19454236 2009
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. 61 25 54
18070816 2008
Barth syndrome, a human disorder of cardiolipin metabolism. 61 57
16973164 2006
A Drosophila model of Barth syndrome. 57 61
16855048 2006
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. 54 25 61
16135531 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. 25 54 61
15805542 2005
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. 57 61
12410207 2002
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. 6 61
12032589 2002
Barth syndrome may be due to an acyltransferase deficiency. 57 61
9259571 1997
A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population. 61 25
31732128 2020

Variations for Barth Syndrome

ClinVar genetic disease variations for Barth Syndrome:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAFAZZIN NM_000116.5(TAFAZZIN):c.239-1G>A SNV Pathogenic 11100 rs1603377590 GRCh37: X:153641543-153641543
GRCh38: X:154413206-154413206
2 TAFAZZIN NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) SNV Pathogenic 11101 rs104894941 GRCh37: X:153640466-153640466
GRCh38: X:154412129-154412129
3 TAFAZZIN NM_000116.5(TAFAZZIN):c.239-1G>C SNV Pathogenic 11102 rs1603377590 GRCh37: X:153641543-153641543
GRCh38: X:154413206-154413206
4 TAFAZZIN TAZ, 1-BP INS, NT868 Insertion Pathogenic 11103 GRCh37:
5 TAFAZZIN TAZ, 1-BP DEL Deletion Pathogenic 11104 GRCh37:
6 TAFAZZIN NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) SNV Pathogenic 11105 rs132630277 GRCh37: X:153648376-153648376
GRCh38: X:154420037-154420037
7 TAFAZZIN TAZ, IVS1DS, G-C, +5 SNV Pathogenic 11106 GRCh37:
8 TAFAZZIN NM_000116.5(TAFAZZIN):c.284+110G>A SNV Pathogenic 11107 rs1603377747 GRCh37: X:153641699-153641699
GRCh38: X:154413362-154413362
9 TAFAZZIN NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) SNV Pathogenic 11108 rs104894937 GRCh37: X:153641886-153641886
GRCh38: X:154413549-154413549
10 DNASE1L1 , TAFAZZIN NM_000116.5(TAFAZZIN):c.110-2A>G SNV Pathogenic 11109 rs1603376833 GRCh37: X:153640421-153640421
GRCh38: X:154412084-154412084
11 TAFAZZIN NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) SNV Pathogenic 11110 rs104894942 GRCh37: X:153641585-153641585
GRCh38: X:154413248-154413248
12 TAFAZZIN NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) Deletion Pathogenic 11111 rs1603381671 GRCh37: X:153648390-153648393
GRCh38: X:154420051-154420054
13 TAFAZZIN NM_000116.5(TAFAZZIN):c.647-1G>C SNV Pathogenic 11112 rs587776741 GRCh37: X:153648550-153648550
GRCh38: X:154420211-154420211
14 TAFAZZIN NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) SNV Pathogenic 403954 rs1060500044 GRCh37: X:153641586-153641586
GRCh38: X:154413249-154413249
15 TAFAZZIN NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) SNV Pathogenic 560626 rs1569552731 GRCh37: X:153641901-153641901
GRCh38: X:154413564-154413564
16 TAFAZZIN NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) SNV Pathogenic 638931 rs1603377945 GRCh37: X:153641904-153641904
GRCh38: X:154413567-154413567
17 TAFAZZIN NM_000116.5(TAFAZZIN):c.700-1G>A SNV Pathogenic 42265 rs397515747 GRCh37: X:153648996-153648996
GRCh38: X:154420657-154420657
18 TAFAZZIN NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) SNV Pathogenic 42257 rs397515741 GRCh37: X:153641844-153641844
GRCh38: X:154413507-154413507
19 TAFAZZIN NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) SNV Pathogenic 653322 rs1060500044 GRCh37: X:153641586-153641586
GRCh38: X:154413249-154413249
20 TAFAZZIN NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) SNV Pathogenic 426783 rs1085307797 GRCh37: X:153648433-153648433
GRCh38: X:154420094-154420094
21 TAFAZZIN NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) SNV Pathogenic 662186 rs1603381860 GRCh37: X:153648601-153648601
GRCh38: X:154420262-154420262
22 TAFAZZIN NM_000116.5(TAFAZZIN):c.708_709TG[1] (p.Val237fs) Microsatellite Pathogenic 177908 rs727504394 GRCh37: X:153649005-153649006
GRCh38: X:154420666-154420667
23 TAFAZZIN NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) SNV Pathogenic 35505 rs387907218 GRCh37: X:153649015-153649015
GRCh38: X:154420676-154420676
24 TAFAZZIN NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) SNV Likely pathogenic 177990 rs727504431 GRCh37: X:153648551-153648551
GRCh38: X:154420212-154420212
25 TAFAZZIN NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) SNV Likely pathogenic 807698 rs1557191170 GRCh37: X:153640551-153640551
GRCh38: X:154412214-154412214
26 TAFAZZIN NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) SNV Likely pathogenic 177794 rs727504327 GRCh37: X:153641881-153641881
GRCh38: X:154413544-154413544
27 TAFAZZIN NM_000116.5(TAFAZZIN):c.236_238+5del Deletion Likely pathogenic 842542 GRCh37: X:153640549-153640556
GRCh38: X:154412212-154412219
28 TAFAZZIN NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) SNV Likely pathogenic 992964 GRCh37: X:153649070-153649070
GRCh38: X:154420731-154420731
29 TAFAZZIN NM_000116.5(TAFAZZIN):c.238+2_238+9del Deletion Likely pathogenic 661106 rs1603376938 GRCh37: X:153640550-153640557
GRCh38: X:154412213-154412220
30 TAFAZZIN NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) SNV Likely pathogenic 42256 rs397515740 GRCh37: X:153641841-153641841
GRCh38: X:154413504-154413504
31 TAFAZZIN NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) SNV Likely pathogenic 42255 rs397515739 GRCh37: X:153641862-153641862
GRCh38: X:154413525-154413525
32 TAFAZZIN NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) SNV Likely pathogenic 42264 rs397515746 GRCh37: X:153648377-153648377
GRCh38: X:154420038-154420038
33 TAFAZZIN NM_000116.5(TAFAZZIN):c.528_541+7del Deletion Likely pathogenic 855792 GRCh37: X:153647946-153647966
GRCh38: X:154419607-154419627
34 TAFAZZIN NM_000116.5(TAFAZZIN):c.542-2A>G SNV Likely pathogenic 855841 GRCh37: X:153648042-153648042
GRCh38: X:154419703-154419703
35 TAFAZZIN NM_000116.5(TAFAZZIN):c.542-3C>G SNV Likely pathogenic 488616 rs781795144 GRCh37: X:153648041-153648041
GRCh38: X:154419702-154419702
36 TAFAZZIN NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) Deletion Likely pathogenic 433548 rs1557194525 GRCh37: X:153649300-153649300
GRCh38: X:154420961-154420961
37 TAFAZZIN NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) SNV Likely pathogenic 42254 rs397515738 GRCh37: X:153640521-153640521
GRCh38: X:154412184-154412184
38 TAFAZZIN and overlap with 1 gene(s) NC_000023.10:g.(?_153640181)_(153641904_?)del Deletion Likely pathogenic 177904 GRCh37: X:153640181-153641904
39 TAFAZZIN NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) SNV Likely pathogenic 237009 rs878853654 GRCh37: X:153640540-153640540
GRCh38: X:154412203-154412203
40 TAFAZZIN NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) SNV Conflicting interpretations of pathogenicity 692017 rs1298362744 GRCh37: X:153649275-153649275
GRCh38: X:154420936-154420936
41 TAFAZZIN NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) SNV Conflicting interpretations of pathogenicity 430910 rs1557194488 GRCh37: X:153649254-153649254
GRCh38: X:154420915-154420915
42 TAFAZZIN NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) SNV Conflicting interpretations of pathogenicity 368087 rs1057515818 GRCh37: X:153647925-153647925
GRCh38: X:154419586-154419586
43 TAFAZZIN NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) SNV Uncertain significance 914161 GRCh37: X:153641885-153641885
GRCh38: X:154413548-154413548
44 TAFAZZIN NM_000116.5(TAFAZZIN):c.*165T>A SNV Uncertain significance 914208 GRCh37: X:153649508-153649508
GRCh38: X:154421169-154421169
45 TAFAZZIN NM_000116.5(TAFAZZIN):c.647-6C>T SNV Uncertain significance 912700 GRCh37: X:153648545-153648545
GRCh38: X:154420206-154420206
46 TAFAZZIN NM_000116.5(TAFAZZIN):c.*618A>G SNV Uncertain significance 913108 GRCh37: X:153649961-153649961
GRCh38: X:154421622-154421622
47 TAFAZZIN NM_000116.5(TAFAZZIN):c.*648A>C SNV Uncertain significance 913109 GRCh37: X:153649991-153649991
GRCh38: X:154421652-154421652
48 DNASE1L1 , TAFAZZIN NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) SNV Uncertain significance 913761 GRCh37: X:153640229-153640229
GRCh38: X:154411892-154411892
49 TAFAZZIN NM_000116.5(TAFAZZIN):c.*33G>A SNV Uncertain significance 913803 GRCh37: X:153649376-153649376
GRCh38: X:154421037-154421037
50 TAFAZZIN NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) SNV Uncertain significance 42261 rs397515744 GRCh37: X:153647956-153647956
GRCh38: X:154419617-154419617

UniProtKB/Swiss-Prot genetic disease variations for Barth Syndrome:

# Symbol AA change Variation ID SNP ID
1 TAFAZZIN p.Arg94Ser VAR_014110 rs104894942
2 TAFAZZIN p.Cys118Arg VAR_014111 rs104894937
3 TAFAZZIN p.Gly197Arg VAR_014112 rs132630277
4 TAFAZZIN p.Gly240Arg VAR_068434 rs387907218

Expression for Barth Syndrome

Search GEO for disease gene expression data for Barth Syndrome.

Pathways for Barth Syndrome

Pathways related to Barth Syndrome according to KEGG:

# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

Pathways related to Barth Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
3 10.34 PNPLA8 PLA2G6

GO Terms for Barth Syndrome

Cellular components related to Barth Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 TOMM40 TMEM70 TIMM17A TAMM41 TAFAZZIN SDHA
2 mitochondrion GO:0005739 9.4 TOMM40 TMEM70 TIMM17A TAMM41 TAFAZZIN SERAC1
3 Mitochondria-associated ER Membrane GO:0044233 9.26 TOMM40 SERAC1
4 pseudopodium GO:0031143 9.16 PLA2G6 LDB3

Biological processes related to Barth Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 TAMM41 SERAC1 PNPLA8 PLA2G6 LCLAT1
2 phospholipid biosynthetic process GO:0008654 9.54 TAMM41 SERAC1 LCLAT1
3 phosphatidylcholine acyl-chain remodeling GO:0036151 9.49 PNPLA8 PLA2G6
4 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.48 PNPLA8 PLA2G6
5 CDP-diacylglycerol biosynthetic process GO:0016024 9.43 TAMM41 LCLAT1
6 protein targeting to mitochondrion GO:0006626 9.43 TOMM40 TIMM17A DNAJC19
7 phosphatidylcholine catabolic process GO:0034638 9.4 PNPLA8 PLA2G6
8 protein import into mitochondrial matrix GO:0030150 9.33 TOMM40 TIMM17A DNAJC19
9 phosphatidylethanolamine catabolic process GO:0046338 9.32 PNPLA8 PLA2G6
10 cardiolipin acyl-chain remodeling GO:0035965 9.13 TAFAZZIN PLA2G6 LCLAT1
11 cardiolipin biosynthetic process GO:0032049 8.8 TAMM41 TAFAZZIN PLA2G6

Molecular functions related to Barth Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 O-acyltransferase activity GO:0008374 9.4 TAFAZZIN LCLAT1
2 lysophospholipase activity GO:0004622 9.37 PNPLA8 PLA2G6
3 ATPase activator activity GO:0001671 9.32 MYBPC3 DNAJC19
4 protein transmembrane transporter activity GO:0008320 9.26 TOMM40 TIMM17A
5 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.16 TAFAZZIN LCLAT1
6 phosphatidyl phospholipase B activity GO:0102545 8.96 PNPLA8 PLA2G6
7 calcium-independent phospholipase A2 activity GO:0047499 8.62 PNPLA8 PLA2G6

Sources for Barth Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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