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Disease Profile
PIK3CA-related overgrowth spectrum
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)
PIK3CA-associated segmental overgrowth
Summary
PIK3CA-related overgrowth spectrum (PROS) is a group of rare disorders that cause overgrowth of parts of the body, due to
- Fibroadipose hyperplasia (also called fibroadipose overgrowth)
- CLOVES syndrome
- Megalencephaly-capillary malformation syndrome (MCAP
syndrome ) - Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome)
- Hemimegalencephaly
- Facial infiltrating lipomatosis (a
congenital disorder that causes overgrowth of one side of the face)
Signs and symptoms of PROS depend on the specific disorder present. Depending on the disorder, they can include having a larger-than-normal brain (megalencephaly), low muscle tone (
PROS is usually caused by
Symptoms
CLOVES
Megalencephaly-capillary malformation syndrome (MCAP syndrome) is associated with having a very large brain (megalencephaly) or having one half of the brain larger than expected (hemimegalencephaly). It also causes differences in the smallest blood vessels, called the capillaries. Megalencephaly can cause symptoms including low muscle tone (
Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome) is associated with non-progressive, asymmetrical, moderate overgrowth usually affecting the limbs. It is also associated with slow-growing, painless, subcutaneous lipomatous masses (made up of fat
Facial infiltrating lipomatosis (FIL) causes overgrowth and enlargement of one side of the face. It can also cause mucosal neuromas (masses that grow from a nerve), hemimacroglossia (enlargement of half of the tongue), bone enlargement, and premature dental eruption.[4]
Because PROS causes cells of the body to grow and divide more quickly, there is an increased risk of
Cause
Diagnosis
A diagnosis of PROS can be confirmed with
Treatment
People with PROS may be followed by a multi-disciplinary team that may include a
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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CLOVES Syndrome Community
PO Box 406
West Kennebunk, ME 04094
Toll-free: 1-833-425-6837 (1-833-4CLOVES)
E-mail: [email protected]
Website: https://www.clovessyndrome.org/ -
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 -
M-CM Network
PO Box 97
Chatham, NY 12037
Telephone: 518-392-2150
E-mail: [email protected]
Website: https://www.m-cm.net/
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.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- PubMed is a searchable database of medical literature and lists journal articles that discuss PIK3CA-related overgrowth spectrum. Click on the link to view a sample search on this topic.
- The University of Cambridge has a resource about segmental overgrowth and opportunities to enroll in a database for future research opportunities.
References
- Mirzaa G, Conway R,Graham JM, and Dobyns WB.. PIK3CA-Related Segmental Overgrowth. GeneReviews. August 15 2013; https://www.ncbi.nlm.nih.gov/books/NBK153722/.
- PIK3CA gene. Genetics Home Reference (GHR). August, 2016; https://ghr.nlm.nih.gov/gene/PIK3CA#conditions.
- Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, et al. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet. January, 2017; 91(1):14-21. https://www.ncbi.nlm.nih.gov/pubmed/27426476.
- Couto JA, Konczyk DJ, Vivero MP, et al. Somatic PIK3CA Mutations are Present in Multiple Tissues of Facial Infiltrating Lipomatosis. Pediatr Res. November, 2017; 82(5):850-854. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645230/.
- Hemihyperplasia-multiple lipomatosis syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280. Accessed 7/10/2018.
- Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, and Keppler-Noreuil KM. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. American Journal of Medical Genetics. October 2016; 170(10):2559-2569. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514817/.
- PIK3CA gene. Genetics Home Reference. August 2016; https://ghr.nlm.nih.gov/gene/PIK3CA.
- Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Dobyns W, and Biesecker LG. PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation. American Journal of Medical Genetics. February 2015; 167(2):287-295. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480633/.
- Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, and Wakamatsu N. The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). Oncotarget. July 11, 2017; 8(28):45470-45483. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542201/.
- Keppler-Noreuil KM, Parker VER, Darling TN, and Martinez-Agosto JA. Somatic Overgrowth Disorders of the PI3K/mTOR Pathway & Therapeutic Strategies. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. December 2016; 172(4):402-421. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592089/.
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