MCID: BRT005
MIFTS: 52

Barth Syndrome

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

Aliases & Classifications for Barth Syndrome

MalaCards integrated aliases for Barth Syndrome:

Name: Barth Syndrome 53 12 72 23 49 24 50 55 71 36 13 51 41 14
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 53 49 24 55 71
3-Methylglutaconic Aciduria Type 2 24 55 71 28 69
Bths 53 49 24 55 71
Mga Type Ii 12 49 24 71
Mga2 53 55 71
3-Methylglutaconic Aciduria Type Ii 49 71
Mga Type 2 12 24
Taz Defect 49 24
Mgca2 53 71
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 71
Left Ventricular Non-Compaction Isolated X-Linked 71
X-Linked Cardioskeletal Myopathy and Neutropenia 55
Cardioskeletal Myopathy-Neutropenia Syndrome 55
3-Methylglutaconic Aciduria, Type Ii; Mgca2 53
Agammaglobulinemia 2, Autosomal Recessive 69
3-Alpha-Methylglutaconic Aciduria Type 2 71
3-Methylglutaconic Aciduria, Type Ii 53
3 Methylglutaconic Aciduria, Type Ii 24
Cardioskeletal Myopathy-Neutropenia 71
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Mga, Type Ii; Mga2 53
Dnajc19 Defect 24
Mga, Type Ii 53
Agm2 71
Invm 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
barth syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

23
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 : 50 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 cardioskeletal myopathy with neutropenia and abnormal mitochondria, is related to 3-methylglutaconic aciduria, type v and 3-methylglutaconic aciduria, and has symptoms including abnormality of neutrophils, dilated cardiomyopathy and endocardial fibroelastosis. 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.

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 : 24 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 : 49 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. Last updated: 2/25/2016

OMIM : 53 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 : 71 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 : 72 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:

53
Muscle Soft Tissue:
fatigue
proximal weakness
exercise intolerance
abnormal gait
skeletal myopathy

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

Growth Other:
failure to thrive
growth retardation

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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of neutrophils 55 31 frequent (33%) Frequent (79-30%) HP:0001874
2 dilated cardiomyopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001644
3 endocardial fibroelastosis 55 31 frequent (33%) Frequent (79-30%) HP:0001706
4 abnormal mitochondrial morphology 55 31 frequent (33%) Frequent (79-30%) HP:0008322
5 fatigue 31 HP:0012378
6 gait disturbance 31 HP:0001288
7 failure to thrive 31 HP:0001508
8 mandibular prognathia 31 HP:0000303
9 macrotia 31 HP:0000400
10 hypertrophic cardiomyopathy 31 HP:0001639
11 arrhythmia 31 HP:0011675
12 full cheeks 31 HP:0000293
13 congestive heart failure 31 HP:0001635
14 growth delay 31 HP:0001510
15 deeply set eye 31 HP:0000490
16 round face 31 HP:0000311
17 talipes equinovarus 31 occasional (7.5%) HP:0001762
18 neutropenia 31 occasional (7.5%) HP:0001875
19 motor delay 31 HP:0001270
20 myopathic facies 31 HP:0002058
21 exercise intolerance 31 HP:0003546
22 organic aciduria 31 occasional (7.5%) HP:0001992
23 3-methylglutaconic aciduria 31 HP:0003535
24 granulocytopenia 31 HP:0001913
25 skeletal myopathy 31 HP:0003756
26 intermittent lactic acidemia 31 HP:0004913
27 recurrent infections in infancy and early childhood 31 HP:0005437

UMLS symptoms related to Barth Syndrome:


proximal weakness, fatigue

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 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
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 28 TAZ

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

38
Heart, Skeletal Muscle, Neutrophil, Eye, Kidney, Bone, Breast

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 159)
# Title Authors Year
1
Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome. ( 29129703 )
2018
2
Barth Syndrome: Different Approaches to Diagnosis. ( 29249525 )
2018
3
Evaluation of cardiolipin nanodisks as lipidreplacement therapy for Barth syndrome. ( 29336355 )
2017
4
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. ( 28188263 )
2017
5
Assessing olfactory functions in patients with Barth syndrome. ( 29099864 )
2017
6
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. ( 28279226 )
2017
7
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. ( 28070695 )
2017
8
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. ( 28318529 )
2017
9
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. ( 28097490 )
2017
10
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. ( 28196853 )
2017
11
Barth syndrome cardiomyopathy. ( 28158532 )
2017
12
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. ( 28108107 )
2017
13
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. ( 27124939 )
2016
14
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. ( 27358708 )
2016
15
Loss of protein association causes cardiolipin degradation in Barth syndrome. ( 27348092 )
2016
16
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. ( 26853223 )
2016
17
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. ( 27295193 )
2016
18
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. ( 28289596 )
2016
19
New targets for monitoring and therapy in Barth syndrome. ( 26845103 )
2016
20
Defining functional classes of Barth syndrome mutation in humans. ( 26908608 )
2016
21
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. ( 27015085 )
2016
22
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. ( 26415690 )
2015
23
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. ( 26337810 )
2015
24
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. ( 26697888 )
2015
25
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. ( 25860817 )
2015
26
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. ( 26191532 )
2015
27
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. ( 25782672 )
2015
28
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 )
2015
29
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. ( 25941633 )
2015
30
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. ( 25688091 )
2015
31
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. ( 26251611 )
2015
32
Cardiac metabolic pathways affected in the mouse model of barth syndrome. ( 26030409 )
2015
33
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. ( 26144817 )
2015
34
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. ( 25776009 )
2015
35
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. ( 25185984 )
2014
36
Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy. ( 24996164 )
2014
37
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. ( 24901565 )
2014
38
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
39
Tafazzin splice variants and mutations in Barth syndrome. ( 24342716 )
2014
40
The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype. ( 24445246 )
2014
41
Clinical laboratory studies in Barth Syndrome. ( 24751896 )
2014
42
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 25112388 )
2014
43
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
44
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. ( 23109063 )
2013
45
Barth syndrome in adulthood: a clinical case. ( 23485191 )
2013
46
New clinical and molecular insights on Barth syndrome. ( 23409742 )
2013
47
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. ( 23606313 )
2013
48
Barth syndrome in adulthood: a clinical case. ( 22999963 )
2013
49
A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. ( 23678274 )
2013
50
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. ( 23792436 )
2013

Variations for Barth Syndrome

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

71
# 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 all 28)
# 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 TAZ, IVS2AS, G-C, -1 single nucleotide variant Pathogenic
4 TAZ TAZ, 1-BP INS, NT868 insertion Pathogenic
5 TAZ TAZ, 1-BP DEL deletion Pathogenic
6 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh37 Chromosome X, 153648376: 153648376
7 TAZ TAZ, IVS1DS, G-C, +5 single nucleotide variant Pathogenic
8 TAZ TAZ, IVS3DS, G-A, +110 single nucleotide variant Pathogenic
9 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh37 Chromosome X, 153641886: 153641886
10 TAZ TAZ, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
11 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh37 Chromosome X, 153641585: 153641585
12 TAZ TAZ, 4-BP DEL, AGTG deletion Pathogenic
13 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh37 Chromosome X, 153648550: 153648550
14 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
15 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh37 Chromosome X, 153640521: 153640521
16 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh37 Chromosome X, 153641862: 153641862
17 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh37 Chromosome X, 153641841: 153641841
18 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh37 Chromosome X, 153641844: 153641844
19 TAZ NM_000116.4(TAZ): c.590G> A (p.Gly197Glu) single nucleotide variant Likely pathogenic rs397515746 GRCh37 Chromosome X, 153648377: 153648377
20 TAZ NM_000116.4(TAZ): c.700-1G> A single nucleotide variant Likely pathogenic rs397515747 GRCh37 Chromosome X, 153648996: 153648996
21 TAZ NM_000116.4(TAZ): c.718G> C (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
22 TAZ NM_000116.4(TAZ): c.823C> T (p.Gln275Ter) single nucleotide variant Likely pathogenic rs397515750 GRCh37 Chromosome X, 153649287: 153649287
23 TAZ NC_000023.10: g.(?_153640181)_(153641904_?)del deletion Likely pathogenic GRCh37 Chromosome X, 153640181: 153641904
24 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh37 Chromosome X, 153641881: 153641881
25 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh37 Chromosome X, 153649007: 153649008
26 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh37 Chromosome X, 153648551: 153648551
27 TAZ NM_000116.4(TAZ): c.227C> G (p.Pro76Arg) single nucleotide variant Likely pathogenic rs878853654 GRCh37 Chromosome X, 153640540: 153640540
28 TAZ NM_181312.3(TAZ): c.794delC (p.Thr265Ilefs) deletion Likely pathogenic GRCh38 Chromosome X, 154420961: 154420961

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:

36
# 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 9.35 DNAJC19 PLA2G6 SDHA TAZ TOMM40
2 mitochondrial inner membrane GO:0005743 8.92 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 8.96 DNAJC19 TOMM40
2 cardiolipin biosynthetic process GO:0032049 8.62 PLA2G6 TAZ

Sources for Barth Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
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54 OMIM via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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