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Disease Profile
Familial thyroglossal duct cyst
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
Q89.2
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)
Hereditary thyroglossal duct cysts; Thyroglossal duct cysts; Thyroglossal duct cysts familial
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Summary
Cause
Treatment
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
- Children's Hospital Boston has an information page on thyroglossal duct cyst. Click on Children's Hospital Boston to view this information page.
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 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 Familial thyroglossal duct cyst. Click on the link to view a sample search on this topic.
References
- Chrysostomos Kepertis,Kleanthis Anastasiadis,Vassilis Lambropoulos,Vassilis Mouravas,Ioannis Spyridakis. Diagnostic and Surgical Approach of Thyroglossal Duct Cyst in Children: Ten Years Data Review. J Clin Diagn Res. December 2015; 9(12):PC13-PC15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717790/.
- Omar Islam. Thyroglossal Duct Cyst Imaging. In: Daniel D Mott. Medscape. Oct 16, 2015; https://emedicine.medscape.com/article/1346365-overview.
- Inga Schader, Stephen Robertson, Kiki Maoate, Spencer Beasley. Hereditary thyroglossal duct cysts. Pediatric Surgery International. July 2005; 21(7):593-594. https://www.ncbi.nlm.nih.gov/pubmed/16012840. Accessed 5/17/2016.
- Victor A. McKusick. THYROGLOSSAL DUCT CYST, FAMILIAL. In: Iosif W. Lurie. OMIM. 7/13/2012; https://www.omim.org/entry/188455.
- Acierno SP, Waldhausen JHT. Congenital Cervical Cysts, Sinuses and Fistulae. Otolaryngologic Clinics of North America. 2007;
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