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Disease Profile
Hereditary amyloidosis
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)
Familial amyloidosis; Amyloidosis hereditary
Categories
Metabolic disorders
Summary
Hereditary amyloidosis refers to a group of
Diagnosis
The diagnosis of amyloidosis is usually made by performing a
Additionally, when a hereditary amyloidoses is suspected,
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- The Amyloid Treatment and Research Program at Boston University School of Medicine provides information on the treatment of different forms of amyloidosis.
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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Amyloidosis Australia, Inc.
131-133 Napier Street
St. Arnaud,
Victoria, 3478
Australia
Telephone: 03 5495 1169
E-mail: [email protected]
Website: https://www.amyloidosis.com.au/ -
Amyloidosis Foundation
7151 N. Main Street
Suite 2
Clarkston, MI 48346
Toll-free: 877-AMYLOID (1-877-269-5643)
E-mail: [email protected]
Website: https://www.amyloidosis.org/ -
Amyloidosis Research Consortium
320 Nevada Street, Suite 210
Newton, MA 02460
Telephone: 617-467-5170
E-mail: [email protected]
Website: https://www.arci.org/ -
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Toll-free: 866-404-7539
Telephone: 630-350-7539
E-mail: [email protected]
Website: https://www.amyloidosissupport.org/
Social Networking Websites
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RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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
- The Mayo Clinic provides information on the diagnosis and treatment of amyloidosis.
- Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary amyloidosis. Click on the link to view a sample search on this topic.
References
- Benson MD. The hereditary amyloidoses. Best Practice & Research Clinical Rheumatology. 2003; https://www.ncbi.nlm.nih.gov/pubmed/15123043.
- Hereditary Amyloidosis. MedlinePlus. 10/27/2015; https://medlineplus.gov/ency/article/000368.htm.
- Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, Obici L, Westermark P, Grateau G, Wechalekar AD. Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations. Hum Mutat. Sep 2014; 35(9):E2402-12. https://www.ncbi.nlm.nih.gov/pubmed/25044787.
- Hereditary Amyloidosis. Amyloidosis Foundation. https://www.amyloidosis.org/facts/familial/. Accessed 7/19/2016.
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