MCID: BRT005
MIFTS: 51

Barth Syndrome

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

Aliases & Classifications for Barth Syndrome

MalaCards integrated aliases for Barth Syndrome:

Name: Barth Syndrome 57 12 76 24 53 25 54 59 75 37 13 55 44 15
3-Methylglutaconic Aciduria Type 2 25 59 75 29 6 73
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 57 53 25 59 75
Bths 57 53 25 59 75
Mga Type Ii 12 53 25 75
Mga2 57 59 75
3-Methylglutaconic Aciduria Type Ii 53 75
Mga Type 2 12 25
Taz Defect 53 25
Mgca2 57 75
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 75
Left Ventricular Non-Compaction Isolated X-Linked 75
X-Linked Cardioskeletal Myopathy and Neutropenia 59
Cardioskeletal Myopathy-Neutropenia Syndrome 59
3-Methylglutaconic Aciduria, Type Ii; Mgca2 57
Agammaglobulinemia 2, Autosomal Recessive 73
3-Alpha-Methylglutaconic Aciduria Type 2 75
3-Methylglutaconic Aciduria, Type Ii 57
3 Methylglutaconic Aciduria, Type Ii 25
Cardioskeletal Myopathy-Neutropenia 75
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Mga, Type Ii; Mga2 57
Barth Syndrome ) 40
Dnajc19 Defect 25
Mga, Type Ii 57
Agm2 75
Invm 75

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
barth syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Although the question of the penetrance of barth syndrome has never been formally evaluated, it is thought that males manifest complete penetrance, although with variable expressivity...

Classifications:



Summaries for Barth Syndrome

NINDS : 54 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.

MalaCards based summary : Barth Syndrome, also known as 3-methylglutaconic aciduria type 2, is related to 3-methylglutaconic aciduria, type v and 3-methylglutaconic aciduria, and has symptoms including fatigue and proximal weakness. An important gene associated with Barth Syndrome is TAZ (Tafazzin), and among its related pathways/superpathways are Glycerophospholipid metabolism and Mitochondrial protein import. The drugs Calcimimetic Agents and Cinacalcet Hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and neutrophil, and related phenotypes are dilated cardiomyopathy and endocardial fibroelastosis

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)

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

GeneReviews: NBK247162

Related Diseases for Barth Syndrome

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



Diseases related to Barth Syndrome

Symptoms & Phenotypes for Barth Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
growth retardation

Cardiovascular Heart:
hypertrophic cardiomyopathy
congestive heart failure
dilated cardiomyopathy
endocardial fibroelastosis
cardiac arrhythmias
more
Head And Neck Ears:
large ears

Skeletal Feet:
talipes equinovarus (in some patients)

Voice:
nasal quality to speech

Hematology:
neutropenia (in some patients)

Prenatal Manifestations:
fetal demise, male

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

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

Head And Neck Eyes:
deep-set eyes

Neurologic Central Nervous System:
delayed motor milestones

Metabolic Features:
intermittent lactic acidemia

Immunology:
recurrent infections in infancy and early childhood

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

Human phenotypes related to Barth Syndrome:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
2 endocardial fibroelastosis 59 32 frequent (33%) Frequent (79-30%) HP:0001706
3 abnormality of neutrophils 59 32 frequent (33%) Frequent (79-30%) HP:0001874
4 abnormal mitochondrial morphology 59 32 frequent (33%) Frequent (79-30%) HP:0008322
5 full cheeks 32 HP:0000293
6 mandibular prognathia 32 HP:0000303
7 round face 32 HP:0000311
8 macrotia 32 HP:0000400
9 deeply set eye 32 HP:0000490
10 motor delay 32 HP:0001270
11 gait disturbance 32 HP:0001288
12 failure to thrive 32 HP:0001508
13 growth delay 32 HP:0001510
14 congestive heart failure 32 HP:0001635
15 hypertrophic cardiomyopathy 32 HP:0001639
16 talipes equinovarus 32 occasional (7.5%) HP:0001762
17 neutropenia 32 occasional (7.5%) HP:0001875
18 granulocytopenia 32 HP:0001913
19 organic aciduria 32 occasional (7.5%) HP:0001992
20 myopathic facies 32 HP:0002058
21 3-methylglutaconic aciduria 32 HP:0003535
22 exercise intolerance 32 HP:0003546
23 skeletal myopathy 32 HP:0003756
24 intermittent lactic acidemia 32 HP:0004913
25 recurrent infections in infancy and early childhood 32 HP:0005437
26 arrhythmia 32 HP:0011675
27 fatigue 32 HP:0012378

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):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcimimetic Agents Phase 4
2 Cinacalcet Hydrochloride Phase 4
3 Hormone Antagonists Phase 4
4 Hormones Phase 4
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
6
Zoledronic acid Approved Phase 2 118072-93-8 68740
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Atorvastatin Calcium Phase 2 134523-03-8
10 Bone Density Conservation Agents Phase 2
11 Calcium, Dietary Phase 2
12 Diphosphonates Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
14 Hypolipidemic Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 taxane Phase 2
17 Ubiquinone
18 pyruvate Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4 Sensipar
2 A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome Active, not recruiting NCT03098797 Phase 2, Phase 3 Elamipretide
3 Resistance Exercise in Barth Syndrome Recruiting NCT01629459 Phase 2
4 Neoadjuvant Zoledronate and Atorvastatin in Triple Negative Breast Cancer Not yet recruiting NCT03358017 Phase 2 Zoledronate;Atorvastatin 80mg;Standard neoadjuvant cht
5 Exercise Training in Barth Syndrome Completed NCT01194141 Not Applicable
6 Heart and Muscle Metabolism in Barth Syndrome Recruiting NCT01625663
7 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
8 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism 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 TAZ

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

41
Heart, Skeletal Muscle, Neutrophil, Eye, Breast, Kidney, Bone

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 165)
# Title Authors Year
1
Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies. ( 29795646 )
2018
2
Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth syndrome lymphoblasts. ( 29563154 )
2018
3
Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome. ( 29129703 )
2018
4
Barth Syndrome: Different Approaches to Diagnosis. ( 29249525 )
2018
5
Barth syndrome associated with triple mutation. ( 29508483 )
2018
6
The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice. ( 29695963 )
2018
7
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study. ( 29654548 )
2018
8
Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency. ( 29694924 )
2018
9
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. ( 28279226 )
2017
10
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. ( 28097490 )
2017
11
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. ( 28196853 )
2017
12
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. ( 28070695 )
2017
13
Assessing olfactory functions in patients with Barth syndrome. ( 29099864 )
2017
14
Evaluation of cardiolipin nanodisks as lipidreplacement therapy for Barth syndrome. ( 29336355 )
2017
15
Barth syndrome cardiomyopathy. ( 28158532 )
2017
16
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. ( 28318529 )
2017
17
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. ( 28188263 )
2017
18
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. ( 28108107 )
2017
19
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. ( 28289596 )
2016
20
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. ( 27295193 )
2016
21
New targets for monitoring and therapy in Barth syndrome. ( 26845103 )
2016
22
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. ( 26853223 )
2016
23
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. ( 27358708 )
2016
24
Defining functional classes of Barth syndrome mutation in humans. ( 26908608 )
2016
25
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. ( 27124939 )
2016
26
Loss of protein association causes cardiolipin degradation in Barth syndrome. ( 27348092 )
2016
27
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. ( 27015085 )
2016
28
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. ( 25776009 )
2015
29
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. ( 26251611 )
2015
30
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. ( 25688091 )
2015
31
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. ( 26144817 )
2015
32
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 )
2015
33
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. ( 26415690 )
2015
34
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. ( 26697888 )
2015
35
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. ( 25860817 )
2015
36
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. ( 26191532 )
2015
37
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. ( 25941633 )
2015
38
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. ( 26337810 )
2015
39
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. ( 25782672 )
2015
40
Cardiac metabolic pathways affected in the mouse model of barth syndrome. ( 26030409 )
2015
41
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. ( 24901565 )
2014
42
Tafazzin splice variants and mutations in Barth syndrome. ( 24342716 )
2014
43
Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy. ( 24996164 )
2014
44
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. ( 25185984 )
2014
45
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
46
Clinical laboratory studies in Barth Syndrome. ( 24751896 )
2014
47
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence. ( 25118650 )
2014
48
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 25112388 )
2014
49
The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype. ( 24445246 )
2014
50
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. ( 23109063 )
2013

Variations for Barth Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 TAZ p.Arg94Ser VAR_014110 rs104894942
2 TAZ p.Cys118Arg VAR_014111 rs104894937
3 TAZ p.Gly197Arg VAR_014112 rs132630277
4 TAZ p.Gly240Arg VAR_068434 rs387907218

ClinVar genetic disease variations for Barth Syndrome:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAZ TAZ, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
2 TAZ NM_000116.4(TAZ): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs104894941 GRCh37 Chromosome X, 153640466: 153640466
3 TAZ NM_000116.4(TAZ): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs104894941 GRCh38 Chromosome X, 154412129: 154412129
4 TAZ TAZ, IVS2AS, G-C, -1 single nucleotide variant Pathogenic
5 TAZ TAZ, 1-BP INS, NT868 insertion Pathogenic
6 TAZ TAZ, 1-BP DEL deletion Pathogenic
7 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh37 Chromosome X, 153648376: 153648376
8 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh38 Chromosome X, 154420037: 154420037
9 TAZ TAZ, IVS1DS, G-C, +5 single nucleotide variant Pathogenic
10 TAZ TAZ, IVS3DS, G-A, +110 single nucleotide variant Pathogenic
11 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh37 Chromosome X, 153641886: 153641886
12 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh38 Chromosome X, 154413549: 154413549
13 TAZ TAZ, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
14 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh37 Chromosome X, 153641585: 153641585
15 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh38 Chromosome X, 154413248: 154413248
16 TAZ TAZ, 4-BP DEL, AGTG deletion Pathogenic
17 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh37 Chromosome X, 153648550: 153648550
18 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh38 Chromosome X, 154420211: 154420211
19 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
20 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh38 Chromosome X, 154420676: 154420676
21 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh37 Chromosome X, 153640521: 153640521
22 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh38 Chromosome X, 154412184: 154412184
23 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh37 Chromosome X, 153641862: 153641862
24 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh38 Chromosome X, 154413525: 154413525
25 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh37 Chromosome X, 153641841: 153641841
26 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh38 Chromosome X, 154413504: 154413504
27 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh37 Chromosome X, 153641844: 153641844
28 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh38 Chromosome X, 154413507: 154413507
29 TAZ NM_000116.4(TAZ): c.590G> A (p.Gly197Glu) single nucleotide variant Likely pathogenic rs397515746 GRCh37 Chromosome X, 153648377: 153648377
30 TAZ NM_000116.4(TAZ): c.590G> A (p.Gly197Glu) single nucleotide variant Likely pathogenic rs397515746 GRCh38 Chromosome X, 154420038: 154420038
31 TAZ NM_000116.4(TAZ): c.700-1G> A single nucleotide variant Pathogenic rs397515747 GRCh37 Chromosome X, 153648996: 153648996
32 TAZ NM_000116.4(TAZ): c.700-1G> A single nucleotide variant Pathogenic rs397515747 GRCh38 Chromosome X, 154420657: 154420657
33 TAZ NM_000116.4(TAZ): c.718G> C (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
34 TAZ NM_000116.4(TAZ): c.718G> C (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh38 Chromosome X, 154420676: 154420676
35 TAZ NM_000116.4(TAZ): c.823C> T (p.Gln275Ter) single nucleotide variant Likely pathogenic rs397515750 GRCh37 Chromosome X, 153649287: 153649287
36 TAZ NM_000116.4(TAZ): c.823C> T (p.Gln275Ter) single nucleotide variant Likely pathogenic rs397515750 GRCh38 Chromosome X, 154420948: 154420948
37 TAZ NM_000116.3: c.(?_1)_(370_?)del deletion Likely pathogenic GRCh37 Chromosome X, 153640181: 153641904
38 TAZ NM_000116.4(TAZ): c.657C> T (p.Asp219=) single nucleotide variant Likely benign rs140751478 GRCh37 Chromosome X, 153648561: 153648561
39 TAZ NM_000116.4(TAZ): c.657C> T (p.Asp219=) single nucleotide variant Likely benign rs140751478 GRCh38 Chromosome X, 154420222: 154420222
40 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh37 Chromosome X, 153641881: 153641881
41 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh38 Chromosome X, 154413544: 154413544
42 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh37 Chromosome X, 153649007: 153649008
43 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh38 Chromosome X, 154420668: 154420669
44 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh37 Chromosome X, 153648551: 153648551
45 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh38 Chromosome X, 154420212: 154420212
46 TAZ NM_000116.4(TAZ): c.751C> T (p.Arg251Trp) single nucleotide variant Uncertain significance rs372689133 GRCh38 Chromosome X, 154420709: 154420709
47 TAZ NM_000116.4(TAZ): c.751C> T (p.Arg251Trp) single nucleotide variant Uncertain significance rs372689133 GRCh37 Chromosome X, 153649048: 153649048
48 TAZ NM_000116.4(TAZ): c.584-7delT deletion Likely benign rs782192927 GRCh38 Chromosome X, 154420025: 154420025
49 TAZ NM_000116.4(TAZ): c.584-7delT deletion Likely benign rs782192927 GRCh37 Chromosome X, 153648364: 153648364
50 TAZ NM_000116.4(TAZ): c.227C> G (p.Pro76Arg) single nucleotide variant Likely pathogenic rs878853654 GRCh37 Chromosome X, 153640540: 153640540

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:

37
# 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
1 10.59 DNAJC19 TAZ TOMM40

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 mitochondrion GO:0005739 9.43 CPOX DNAJC19 PLA2G6 SDHA TAZ TOMM40
2 mitochondrial inner membrane GO:0005743 9.02 CPOX DNAJC19 SDHA TAZ TOMM40

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.16 DNAJC19 TOMM40
2 protein import into mitochondrial matrix GO:0030150 8.96 DNAJC19 TOMM40
3 cardiolipin biosynthetic process GO:0032049 8.62 PLA2G6 TAZ

Sources for Barth Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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