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Disease Profile
Gamma heavy chain disease
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
Adult
ICD-10
C88.2
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)
IgG heavy chain disease; Franklin disease; Gamma heavy chain deposition disease
Summary
Gamma heavy chain disease affects the growth of
Symptoms
Symptoms of gamma heavy chain disease may include:[2][3]
- Swollen
lymph nodes (lymphadenopathy) - Enlarged spleen (splenomegaly)
- Enlarged liver (hepatomegaly)
Anemia
Symptoms typically begin in adulthood, after age 40. About one-third of people with gamma heavy chain disease have an autoimmune condition such as rheumatoid
Treatment
Specialists involved in the care of someone with gamma heavy chain disease may include:
Hematologist Immunologist Oncologist
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 Merck Manual Home Edition for Patients and Caregivers provides more information on heavy chain diseases.
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 Merck Manual for Healthcare Professionals provides more detailed information on heavy chain diseases.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Gamma heavy chain disease. Click on the link to view a sample search on this topic.
References
- Bianchi G, Anderson KC, Harris NL, Sohani AR. The heavy chain diseases: clinical and pathologic features. Oncology (Williston Park). Jan 2014; 28(1):45-53. https://pubmed.ncbi.nlm.nih.gov/24683718.
- Ramasamy I, Rudzki Z. Two Cases of Gamma-Heavy Chain Disease and a Review of the Literature. Case Rep Hematol. Aug 12, 2018; 2018:4832619. https://pubmed.ncbi.nlm.nih.gov/30186642.
- Rajkumar SV. The heavy chain diseases. UpToDate. updated Sept. 18, 2020; https://www.uptodate.com/contents/the-heavy-chain-diseases.
- Gulli F, Napodano C, Pocino K, Cuccaro A, Hohaus S, Basile U. Heavy chain disease: our experience. Clin Chem Lab Med. Nov 27, 2017; 56(1):e10-e12. https://pubmed.ncbi.nlm.nih.gov/28665788.
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