Attenuated familial adenomatous polyposis
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Attenuated FAP; AFAP; Mild form of FAP;
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||
|80%-99% of people have these symptoms|
|Adenomatous colonic polyposis||0005227|
|30%-79% of people have these symptoms|
|Multiple gastric polyps||0004394|
|5%-29% of people have these symptoms|
|Adenocarcinoma of the colon||0040276|
[ more ]
|Fibroadenoma of the breast||0010619|
|Increased number of teeth||
Increased tooth count
[ more ]
|Multiple renal cysts||
Multiple kidney cysts
Failure of eruption of tooth
|1%-4% of people have these symptoms|
|Papillary thyroid carcinoma||0002895|
|Percent of people who have these symptoms is not available through HPO|
|Hyperpigmentation of the skin||
Patchy darkened skin
Multiple fatty lumps
|Small intestine carcinoid||0006722|
Because individuals with AFAP can also develop duodenal adenomas and other
A number of drugs such as celecoxib and sulindac reportedly have been successful at reducing the number and the size of polyps in affected people, but these drugs generally help to prevent further complications and are not considered adequate treatment.
Additional and more detailed information about the treatment and management of FAP, including AFAP, is available on eMedicine's Web site and can be viewed by clicking here.
Specialists involved in the care of someone with familial adenomatous polyposis may include:
Medical geneticist Gastroenterologist
- Orthopedic surgeon
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.
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.
- Genetics Home Reference (GHR) contains information on Attenuated familial adenomatous polyposis. This website is maintained by the National Library of Medicine.
- 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.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Attenuated familial adenomatous polyposis. Click on the link to view a sample search on this topic.
- Jasperson KW, Patel SG, Ahnen DJ. APC-Associated Polyposis Conditions. GeneReviews. Updated Feb 2, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1345/.
- Mohammad Wehbi. Familial Adenomatous Polyposis. eMedicine. September 1, 2011; https://emedicine.medscape.com/article/175377-overview. Accessed 12/16/2011.
- Peter A L Bonis, MD; Dennis J Ahnen, MD; Lisen Axell, MS, CGC. Familial adenomatous polyposis and MUTYH associated polyposis: Screening and management of patients and families. UpToDate. April 2014;
- Provenzale D, Gupta S, Ahnen DJ, Bray T, Cannon JA, Cooper G, David DS, et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. Aug 2016; 14(8):1010-30. https://pubmed.ncbi.nlm.nih.gov/27496117/.
- Hyer W, Cohen S, Attard T, Vila-Miravet V, Pienar C, Auth M, Septer S, et al. Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. Mar 2019; 68(3):428-441. https://pubmed.ncbi.nlm.nih.gov/30585891/.