Rare Pediatrics News
Disease Profile
Barth syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
E71.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
BTHS; 3-methylglutaconic aciduria type II; MGA type II;
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Summary
Barth
Symptoms
Barth syndrome is also associated with abnormally diminished muscle tone (
In addition to the signs and symptoms previously mentioned, individuals with Barth syndrome have abnormally increased levels of a substance called 3-methylglutaconic acid in their urine and blood. However, there does not appear to be an association between the increased acid levels and the severity of other symptoms and signs associated with Barth syndrome.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
30%-79% of people have these symptoms | ||
Abnormal mitochondrial morphology | 0008322 | |
Abnormality of neutrophils | 0001874 | |
Endocardial fibroelastosis | 0001706 | |
5%-29% of people have these symptoms | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Organic aciduria | 0001992 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Percent of people who have these symptoms is not available through HPO | ||
3-Methylglutaconic aciduria | 0003535 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Granulocytopenia | 0001913 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
Intermittent lactic acidemia | 0004913 | |
Macrotia |
Large ears
|
0000400 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Motor delay | 0001270 | |
Myopathic facies | 0002058 | |
Recurrent infections in infancy and early childhood | 0005437 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Skeletal myopathy | 0003756 | |
0001419 |
Cause
Diagnosis
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. - An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes hereditary, dilated and nutritional cardiomyopathy and idiopathic/cyclic neutropenia (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Barth Syndrome Foundation
2005 Palmer Avenue #1033
Larchmont, NY 10538
Toll-free: 855-662-2784 or 855-NO-BARTH
Telephone: 914-303-6323
Fax: 518-213-4061
E-mail: [email protected]
Website: https://www.barthsyndrome.org -
Cardiomyopathy Association
Chiltern Court
Asheridge Road
Unit 10
Chesham Buckinghamshire HP5 2PX
United Kingdom
Telephone: +44 01494 791 224
Fax: +44 1923 249 987
E-mail: [email protected]
Website: https://www.cardiomyopathy.org -
Children's Cardiomyopathy Foundation
P.O. Box 547
Tenafly, NJ 07670
Toll-free: 866-808-CURE (2873)
Fax: 201-227-7016
E-mail: [email protected]
Website: https://www.childrenscardiomyopathy.org/ -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
Neutropenia Support Association, Inc.
971 Corydon Avenue
P.O. Box 243
Winnepeg, Manitoba, R3M 3S7
Canada
Toll-free: 800-663-8876
Telephone: 204-489-8454
E-mail: [email protected]
Website: https://www.neutropenia.ca
Organizations Providing General Support
-
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org -
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
Website: https://www.mitoaction.org/ -
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: [email protected]
Website: https://www.piduk.org/ -
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Barth syndrome. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Barth syndrome. Click on the link to view a sample search on this topic.
References
- Barth Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/barth-syndrome/.
- Barth syndrome. Genetics Home Reference. July 2014; https://ghr.nlm.nih.gov/condition/barth-syndrome.
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