BTHS
MCID: BRT005
MIFTS: 52

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 58 12 77 25 54 26 60 76 38 13 56 45 15
3-Methylglutaconic Aciduria Type 2 26 60 76 30 6 74
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 58 54 26 60 76
Bths 58 54 26 60 76
Mga Type Ii 12 54 26 76
Mga2 58 60 76
3-Methylglutaconic Aciduria Type Ii 54 76
Mga Type 2 12 26
Taz Defect 54 26
Mgca2 58 76
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 76
Left Ventricular Non-Compaction Isolated X-Linked 76
X-Linked Cardioskeletal Myopathy and Neutropenia 60
Cardioskeletal Myopathy-Neutropenia Syndrome 60
3-Methylglutaconic Aciduria, Type Ii; Mgca2 58
Agammaglobulinemia 2, Autosomal Recessive 74
3-Alpha-Methylglutaconic Aciduria Type 2 76
3-Methylglutaconic Aciduria, Type Ii 58
3 Methylglutaconic Aciduria, Type Ii 26
Cardioskeletal Myopathy-Neutropenia 76
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Mga, Type Ii; Mga2 58
Barth Syndrome ) 41
Dnajc19 Defect 26
Mga, Type Ii 58
Agm2 76
Invm 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
barth syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

25
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 : 55 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 left ventricular noncompaction, 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 Cinacalcet and Calcium have 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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 : 58 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 : 76 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 : 77 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

Human phenotypes related to Barth Syndrome:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001644
2 abnormality of neutrophils 60 33 frequent (33%) Frequent (79-30%) HP:0001874
3 endocardial fibroelastosis 60 33 frequent (33%) Frequent (79-30%) HP:0001706
4 abnormal mitochondrial morphology 60 33 frequent (33%) Frequent (79-30%) HP:0008322
5 talipes equinovarus 33 occasional (7.5%) HP:0001762
6 neutropenia 33 occasional (7.5%) HP:0001875
7 organic aciduria 33 occasional (7.5%) HP:0001992
8 gait disturbance 33 HP:0001288
9 failure to thrive 33 HP:0001508
10 mandibular prognathia 33 HP:0000303
11 macrotia 33 HP:0000400
12 fatigue 33 HP:0012378
13 hypertrophic cardiomyopathy 33 HP:0001639
14 arrhythmia 33 HP:0011675
15 full cheeks 33 HP:0000293
16 congestive heart failure 33 HP:0001635
17 growth delay 33 HP:0001510
18 motor delay 33 HP:0001270
19 broad forehead 33 HP:0000337
20 deeply set eye 33 HP:0000490
21 round face 33 HP:0000311
22 myopathic facies 33 HP:0002058
23 exercise intolerance 33 HP:0003546
24 skeletal myopathy 33 HP:0003756
25 3-methylglutaconic aciduria 33 HP:0003535
26 intermittent lactic acidemia 33 HP:0004913
27 recurrent infections in infancy and early childhood 33 HP:0005437
28 granulocytopenia 33 HP:0001913

Symptoms via clinical synopsis from OMIM:

58
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
skeletal myopathy
proximal weakness
abnormal gait

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

UMLS symptoms related to Barth Syndrome:


fatigue, proximal weakness

GenomeRNAi Phenotypes related to Barth Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 ANXA5 CPOX DBT SDHA TAZ TTR

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
Cinacalcet Approved Phase 4 226256-56-0 156419
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3 Hormones Phase 4
4 Hormone Antagonists Phase 4
5 Calcium, Dietary Phase 4
6 Calcimimetic Agents Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8
Zoledronic Acid Approved Phase 2 118072-93-8 68740
9
Atorvastatin Approved Phase 2 134523-00-5 60823
10 taxane Phase 2
11 Lipid Regulating Agents Phase 2
12 Anticholesteremic Agents Phase 2
13 Antimetabolites Phase 2
14 Hypolipidemic Agents Phase 2
15 Bone Density Conservation Agents Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
17 Ubiquinone
18 pyruvate

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 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 30 TAZ

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

42
Heart, Skeletal Muscle, Eye, Neutrophil, Kidney, Bone, Breast

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 178)
# Title Authors Year
1
Neutropenia in Barth syndrome: characteristics, risks, and management. ( 30451719 )
2019
2
Overexpression of branched-chain amino acid aminotransferases rescues the growth defects of cells lacking the Barth syndrome-related gene TAZ1. ( 30604168 )
2019
3
COmplexome Profiling ALignment (COPAL) reveals remodeling of mitochondrial protein complexes in Barth syndrome. ( 30649188 )
2019
4
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome. ( 30744648 )
2019
5
Mitochondrial Dysfunctions in Barth Syndrome. ( 30746873 )
2019
6
AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome. ( 30788385 )
2019
7
Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies. ( 29795646 )
2018
8
Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth syndrome lymphoblasts. ( 29563154 )
2018
9
Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome. ( 29129703 )
2018
10
Barth Syndrome: Different Approaches to Diagnosis. ( 29249525 )
2018
11
Barth syndrome associated with triple mutation. ( 29508483 )
2018
12
The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice. ( 29695963 )
2018
13
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study. ( 29654548 )
2018
14
Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency. ( 29694924 )
2018
15
Phosphokinome Analysis of Barth Syndrome Lymphoblasts Identify Novel Targets in the Pathophysiology of the Disease. ( 30002286 )
2018
16
Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome. ( 30008435 )
2018
17
AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome. ( 30070157 )
2018
18
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution. ( 30251684 )
2018
19
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. ( 28279226 )
2017
20
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. ( 28097490 )
2017
21
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. ( 28196853 )
2017
22
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. ( 28070695 )
2017
23
Assessing olfactory functions in patients with Barth syndrome. ( 29099864 )
2017
24
Evaluation of cardiolipin nanodisks as lipidreplacement therapy for Barth syndrome. ( 29336355 )
2017
25
Barth syndrome cardiomyopathy. ( 28158532 )
2017
26
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. ( 28318529 )
2017
27
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. ( 28188263 )
2017
28
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. ( 28108107 )
2017
29
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. ( 28289596 )
2016
30
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. ( 27295193 )
2016
31
New targets for monitoring and therapy in Barth syndrome. ( 26845103 )
2016
32
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. ( 26853223 )
2016
33
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. ( 27358708 )
2016
34
Defining functional classes of Barth syndrome mutation in humans. ( 26908608 )
2016
35
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. ( 27124939 )
2016
36
Loss of protein association causes cardiolipin degradation in Barth syndrome. ( 27348092 )
2016
37
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. ( 27015085 )
2016
38
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 26373950 )
2016
39
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE. ( 30226969 )
2016
40
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. ( 25776009 )
2015
41
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. ( 26251611 )
2015
42
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. ( 25688091 )
2015
43
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. ( 26144817 )
2015
44
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 )
2015
45
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. ( 26415690 )
2015
46
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. ( 26697888 )
2015
47
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. ( 25860817 )
2015
48
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. ( 26191532 )
2015
49
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. ( 25941633 )
2015
50
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. ( 26337810 )
2015

Variations for Barth Syndrome

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

76
# 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 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAZ NM_000116.3: c.(?_1)_(370_?)del deletion Likely pathogenic GRCh37 Chromosome X, 153640181: 153641904
2 TAZ NM_000116.4(TAZ): c.331C> T (p.His111Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200405157 GRCh37 Chromosome X, 153641865: 153641865
3 TAZ NM_000116.4(TAZ): c.331C> T (p.His111Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200405157 GRCh38 Chromosome X, 154413528: 154413528
4 TAZ NM_000116.4(TAZ): c.657C> T (p.Asp219=) single nucleotide variant Likely benign rs140751478 GRCh37 Chromosome X, 153648561: 153648561
5 TAZ NM_000116.4(TAZ): c.657C> T (p.Asp219=) single nucleotide variant Likely benign rs140751478 GRCh38 Chromosome X, 154420222: 154420222
6 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh37 Chromosome X, 153641881: 153641881
7 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh38 Chromosome X, 154413544: 154413544
8 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh37 Chromosome X, 153649007: 153649008
9 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh38 Chromosome X, 154420668: 154420669
10 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh37 Chromosome X, 153648551: 153648551
11 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh38 Chromosome X, 154420212: 154420212
12 TAZ NM_000116.4(TAZ): c.751C> T (p.Arg251Trp) single nucleotide variant Uncertain significance rs372689133 GRCh38 Chromosome X, 154420709: 154420709
13 TAZ NM_000116.4(TAZ): c.751C> T (p.Arg251Trp) single nucleotide variant Uncertain significance rs372689133 GRCh37 Chromosome X, 153649048: 153649048
14 TAZ NM_000116.4(TAZ): c.584-7delT deletion Likely benign rs782192927 GRCh38 Chromosome X, 154420025: 154420025
15 TAZ NM_000116.4(TAZ): c.584-7delT deletion Likely benign rs782192927 GRCh37 Chromosome X, 153648364: 153648364
16 TAZ TAZ, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
17 TAZ NM_000116.4(TAZ): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs104894941 GRCh37 Chromosome X, 153640466: 153640466
18 TAZ NM_000116.4(TAZ): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs104894941 GRCh38 Chromosome X, 154412129: 154412129
19 TAZ TAZ, IVS2AS, G-C, -1 single nucleotide variant Pathogenic
20 TAZ TAZ, 1-BP INS, NT868 insertion Pathogenic
21 TAZ TAZ, 1-BP DEL deletion Pathogenic
22 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh37 Chromosome X, 153648376: 153648376
23 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh38 Chromosome X, 154420037: 154420037
24 TAZ TAZ, IVS1DS, G-C, +5 single nucleotide variant Pathogenic
25 TAZ TAZ, IVS3DS, G-A, +110 single nucleotide variant Pathogenic
26 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh37 Chromosome X, 153641886: 153641886
27 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh38 Chromosome X, 154413549: 154413549
28 TAZ TAZ, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
29 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh37 Chromosome X, 153641585: 153641585
30 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh38 Chromosome X, 154413248: 154413248
31 TAZ TAZ, 4-BP DEL, AGTG deletion Pathogenic
32 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh37 Chromosome X, 153648550: 153648550
33 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh38 Chromosome X, 154420211: 154420211
34 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
35 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh38 Chromosome X, 154420676: 154420676
36 TAZ NM_000116.4(TAZ): c.110-17C> T single nucleotide variant Conflicting interpretations of pathogenicity rs62617809 GRCh37 Chromosome X, 153640406: 153640406
37 TAZ NM_000116.4(TAZ): c.110-17C> T single nucleotide variant Conflicting interpretations of pathogenicity rs62617809 GRCh38 Chromosome X, 154412069: 154412069
38 TAZ NM_000116.4(TAZ): c.700-1G> A single nucleotide variant Pathogenic rs397515747 GRCh37 Chromosome X, 153648996: 153648996
39 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh37 Chromosome X, 153640521: 153640521
40 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh38 Chromosome X, 154412184: 154412184
41 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh37 Chromosome X, 153641862: 153641862
42 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh38 Chromosome X, 154413525: 154413525
43 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh37 Chromosome X, 153641841: 153641841
44 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh38 Chromosome X, 154413504: 154413504
45 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh37 Chromosome X, 153641844: 153641844
46 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh38 Chromosome X, 154413507: 154413507
47 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh37 Chromosome X, 153642450: 153642450
48 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh38 Chromosome X, 154414113: 154414113
49 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh37 Chromosome X, 153647956: 153647956
50 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh38 Chromosome X, 154419617: 154419617

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:

38
# 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 10.42 DNAJC19 TAZ

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 cytoplasm GO:0005737 9.56 ANXA5 CPOX DBT DTNA LDB3 PLA2G6
2 mitochondrial inner membrane GO:0005743 9.33 DNAJC19 SDHA TAZ
3 mitochondrion GO:0005739 9.1 CPOX DBT DNAJC19 PLA2G6 SDHA TAZ

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

# Name GO ID Score Top Affiliating Genes
1 cardiolipin biosynthetic process GO:0032049 8.62 PLA2G6 TAZ

Sources for Barth Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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