Barth Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Cardiovascular diseases
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Aliases & Descriptions for Barth Syndrome:
Orphanet epidemiological data:53
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
Inheritance: x-linked recessive inheritance
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...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Blood diseases, Cardiovascular diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Rare immunological diseases
NINDS:48 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 cunt, 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 3-methylglutaconic aciduria, type v, and has symptoms including hypertrophic cardiomyopathy, abnormality of neutrophils and abnormality of the musculature. An important gene associated with Barth Syndrome is TAZ (Tafazzin), and among its related pathways is Mitochondrial protein import. Affiliated tissues include heart, skeletal muscle and neutrophil.
Disease Ontology:11 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: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.
NIH Rare Diseases:47 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:51 Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with... (302060) more...
UniProtKB/Swiss-Prot:69 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:70 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...
GeneReviews for NBK247162
Human phenotypes related to Barth Syndrome:63 53 (show all 28)
UMLS symptoms related to Barth Syndrome:fatigue, myopathic facies, proximal weakness
Drugs for Barth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 23)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Barth Syndrome
MalaCards organs/tissues related to Barth Syndrome:35
Heart, Skeletal muscle, Neutrophil, Eye, Testes, Kidney, Pituitary
Articles related to Barth Syndrome:(show top 50) (show all 148)
UniProtKB/Swiss-Prot genetic disease variations for Barth Syndrome:69
Clinvar genetic disease variations for Barth Syndrome:5 (show all 28)
Search GEO for disease gene expression data for Barth Syndrome.
Cellular components related to Barth Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Barth Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet