MCID: BRT005
MIFTS: 53

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 54 12 23 50 24 25 51 56 71 13 52 42 14
3-Methylglutaconic Aciduria Type 2 24 25 56 71 29 69
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 50 25 56 71
Mga Type Ii 12 50 25 71
Bths 50 25 56 71
3-Methylglutaconic Aciduria Type Ii 50 24 71
Mga2 24 56 71
Mga Type 2 12 25
Taz Defect 50 25
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 71
Left Ventricular Non-Compaction Isolated X-Linked 71
X-Linked Cardioskeletal Myopathy and Neutropenia 56
Cardioskeletal Myopathy-Neutropenia Syndrome 56
Agammaglobulinemia 2, Autosomal Recessive 69
3-Alpha-Methylglutaconic Aciduria Type 2 71
Endocardial Fibroelastosis, X-Linked 24
3 Methylglutaconic Aciduria, Type Ii 25
Cardioskeletal Myopathy-Neutropenia 71
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Endocardial Fibroelastosis Type 2 24
Dnajc19 Defect 25
Mga, Type Ii 24
Mgca2 71
Agm2 71
Invm 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:

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 : 51 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 agammaglobulinemia 2 and familial isolated noncompaction of left ventricular myocardium, and has symptoms including dilated cardiomyopathy, endocardial fibroelastosis and abnormality of neutrophils. An important gene associated with Barth Syndrome is TAZ (Tafazzin), and among its related pathways/superpathways is 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.

NIH Rare Diseases : 50 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

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.

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.

OMIM : 54
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)

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 : 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:

54

Growth- Other:
failure to thrive
growth retardation

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

Cardiovascular- Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
endocardial fibroelastosis
cardiac arrhythmias
congestive heart failure
more
Skeletal- Feet:
talipes equinovarus (in some patients)

Hematology:
neutropenia (in some patients)

Metabolic Features:
intermittent lactic acidemia

Prenatal Manifestations:
fetal demise, male

Head And Neck- Ears:
large ears

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

Head And Neck- Eyes:
deep-set eyes

Neurologic- Central Nervous System:
delayed motor milestones

Voice:
nasal quality to speech

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:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001644
2 endocardial fibroelastosis 56 32 frequent (33%) Frequent (79-30%) HP:0001706
3 abnormality of neutrophils 56 32 frequent (33%) Frequent (79-30%) HP:0001874
4 abnormal mitochondrial morphology 56 32 frequent (33%) Frequent (79-30%) HP:0008322
5 failure to thrive 32 HP:0001508
6 neutropenia 32 occasional (7.5%) HP:0001875
7 round face 32 HP:0000311
8 fatigue 32 HP:0012378
9 myopathic facies 32 HP:0002058
10 hypertrophic cardiomyopathy 32 HP:0001639
11 exercise intolerance 32 HP:0003546
12 talipes equinovarus 32 occasional (7.5%) HP:0001762
13 motor delay 32 HP:0001270
14 full cheeks 32 HP:0000293
15 arrhythmia 32 HP:0011675
16 congestive heart failure 32 HP:0001635
17 3-methylglutaconic aciduria 32 HP:0003535
18 gait disturbance 32 HP:0001288
19 growth delay 32 HP:0001510
20 macrotia 32 HP:0000400
21 skeletal myopathy 32 HP:0003756
22 intermittent lactic acidemia 32 HP:0004913
23 recurrent infections in infancy and early childhood 32 HP:0005437
24 mandibular prognathia 32 HP:0000303
25 deeply set eye 32 HP:0000490
26 granulocytopenia 32 HP:0001913

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 9)
id 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 Pharmaceutical Solutions Phase 1
7 Vaccines Phase 1
8 Ubiquinone
9 pyruvate Nutraceutical

Interventional clinical trials:


id 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 Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome Recruiting NCT02738450 Phase 1
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 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
9 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:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 2 29 24 TAZ

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

39
Heart, Skeletal Muscle, Neutrophil, Eye, Kidney, Skin, Pituitary

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 155)
id Title Authors Year
1
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. ( 28188263 )
2017
2
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. ( 28097490 )
2017
3
Barth syndrome cardiomyopathy. ( 28158532 )
2017
4
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. ( 28108107 )
2017
5
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. ( 28318529 )
2017
6
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. ( 28196853 )
2017
7
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. ( 28279226 )
2017
8
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. ( 28070695 )
2017
9
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. ( 28289596 )
2016
10
New targets for monitoring and therapy in Barth syndrome. ( 26845103 )
2016
11
Loss of protein association causes cardiolipin degradation in Barth syndrome. ( 27348092 )
2016
12
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. ( 27015085 )
2016
13
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. ( 27295193 )
2016
14
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. ( 27124939 )
2016
15
Defining functional classes of Barth syndrome mutation in humans. ( 26908608 )
2016
16
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. ( 27358708 )
2016
17
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. ( 26853223 )
2016
18
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. ( 25782672 )
2015
19
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. ( 25688091 )
2015
20
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. ( 25941633 )
2015
21
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 )
2015
22
Cardiac metabolic pathways affected in the mouse model of barth syndrome. ( 26030409 )
2015
23
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. ( 26697888 )
2015
24
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. ( 26415690 )
2015
25
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. ( 26191532 )
2015
26
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. ( 26144817 )
2015
27
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. ( 26251611 )
2015
28
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. ( 25860817 )
2015
29
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. ( 25776009 )
2015
30
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. ( 26337810 )
2015
31
Clinical laboratory studies in Barth Syndrome. ( 24751896 )
2014
32
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
33
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. ( 24901565 )
2014
34
Tafazzin splice variants and mutations in Barth syndrome. ( 24342716 )
2014
35
The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype. ( 24445246 )
2014
36
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. ( 25185984 )
2014
37
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 25112388 )
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
Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy. ( 24996164 )
2014
40
Barth syndrome in adulthood: a clinical case. ( 23485191 )
2013
41
Advances in the understanding of Barth syndrome. ( 23432031 )
2013
42
Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. ( 23410936 )
2013
43
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. ( 23361305 )
2013
44
Novel mutations in the TAZ gene in patients with Barth syndrome. ( 24093814 )
2013
45
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. ( 23190323 )
2013
46
Barth syndrome. ( 23398819 )
2013
47
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. ( 23792436 )
2013
48
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. ( 23523468 )
2013
49
A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. ( 23678274 )
2013
50
Seven functional classes of Barth syndrome mutation. ( 23100323 )
2013

Variations for Barth Syndrome

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

71
id 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)
id 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.700-1G> A single nucleotide variant Likely pathogenic rs397515747 GRCh38 Chromosome X, 154420657: 154420657
16 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh37 Chromosome X, 153640521: 153640521
17 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh37 Chromosome X, 153641862: 153641862
18 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh37 Chromosome X, 153641841: 153641841
19 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh37 Chromosome X, 153641844: 153641844
20 TAZ NM_000116.4(TAZ): c.590G> A (p.Gly197Glu) single nucleotide variant Likely pathogenic rs397515746 GRCh37 Chromosome X, 153648377: 153648377
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 GeneCards Suite gene sharing:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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