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Disease Profile
Fibro-adipose vascular anomaly
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.
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Age of onset
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ICD-10
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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)
FAVA; Fibro adipose vascular anomaly
Categories
Congenital and Genetic Diseases
Summary
A fibro-adipose vascular anomaly (FAVA) is a rare mass that develops within a muscle. It is made up of abnormal blood vessels and tough, fibrous, fatty
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
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Klippel-Trenaunay Support Group (K-T Support Group)
1471 Greystone Lane
Milford, OH 45150
Telephone: +1-513-722-7724
E-mail: [email protected]
Website: https://k-t.org/
Contact form: https://k-t.org/about-us/contact -
Project FAVA
5319 University Drive, No. 144
Irvine, CA 92612
E-mail: [email protected]
Website: https://www.projectfava.org/ -
Society for Vascular Surgery
633 N. St. Clair
24th Floor
Chicago, IL 60611
Toll-free: 800-258-7188
Telephone: 312-334-2300
Fax: 312-334-2320
E-mail: [email protected]
Website: https://www.vascularweb.org/index.html -
Vascular Birthmarks Foundation (VBF)
PO Box 106
Latham
NY 12110
Telephone: (877) VBF-4646
E-mail: [email protected]
Website: https://birthmark.org/
Organizations Providing General Support
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National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
E-mail: [email protected]
Website: https://www.novanews.org -
Vascular Cures
274 Redwood Shores Parkway, #717
Redwood City, CA 94065
Telephone: +1-650-368-6022
E-mail: [email protected]
Website: https://vascularcures.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.
General Information
- The Boston Children's Hospital has developed information on fibro-adipose vascular anomaly for parents of children with this rare condition.
Selected Full-Text Journal Articles
- Fernandez-Pineda I et al., Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder. Ann Vasc Dis. 2014;7(3):316-9.
- Luks VL et al., Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5.
References
- Alomari A. Fibro-Adipose Vascular Anomaly (FAVA) in Children. Boston Children's Hospital. 2015; https://www.childrenshospital.org/conditions-and-treatments/conditions/fibro-adipose-vascular-anomaly. Accessed 9/14/2016.