Cowden syndrome causes: Difference between revisions
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Less common causes of [[cowden syndrome]] include:<ref name="pmid21177507">{{cite journal |vauthors=Bennett KL, Mester J, Eng C |title=Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome |journal=JAMA |volume=304 |issue=24 |pages=2724–31 |date=December 2010 |pmid=21177507 |doi=10.1001/jama.2010.1877 |url=}}</ref><ref name="pmid18385383">{{cite journal |vauthors=Cho YJ, Liang P |title=Killin is a p53-regulated nuclear inhibitor of DNA synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=105 |issue=14 |pages=5396–401 |date=April 2008 |pmid=18385383 |pmc=2291080 |doi=10.1073/pnas.0705410105 |url=}}</ref> | Less common causes of [[cowden syndrome]] include:<ref name="pmid21177507">{{cite journal |vauthors=Bennett KL, Mester J, Eng C |title=Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome |journal=JAMA |volume=304 |issue=24 |pages=2724–31 |date=December 2010 |pmid=21177507 |doi=10.1001/jama.2010.1877 |url=}}</ref><ref name="pmid18385383">{{cite journal |vauthors=Cho YJ, Liang P |title=Killin is a p53-regulated nuclear inhibitor of DNA synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=105 |issue=14 |pages=5396–401 |date=April 2008 |pmid=18385383 |pmc=2291080 |doi=10.1073/pnas.0705410105 |url=}}</ref> | ||
*''KLLN'' (KILLIN) [[gene mutation]] | *''KLLN'' (KILLIN) [[gene mutation]] | ||
*[[Succinate dehydrogenase]] (''[[Succinate dehydrogenase|SDH]]'') [[gene mutation]] | *[[Succinate dehydrogenase]] (''[[Succinate dehydrogenase|SDH]]'') [[gene mutation]]<ref name="pmid18678321">{{cite journal |vauthors=Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C |title=Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes |journal=Am. J. Hum. Genet. |volume=83 |issue=2 |pages=261–8 |date=August 2008 |pmid=18678321 |pmc=2495063 |doi=10.1016/j.ajhg.2008.07.011 |url=}}</ref> | ||
*''[[SEC23B]]'' [[gene mutation]] | *''[[SEC23B]]'' [[gene mutation]] | ||
*''[[EGFR]]'' [[gene mutation]] | *''[[EGFR]]'' [[gene mutation]] |
Revision as of 18:19, 21 February 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The most common cause of cowden syndrome is PTEN gene mutations. PTEN hamartoma tumor syndrome (PHTS) which includes a group of many disorders Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Proteus and Proteus-like syndrome (PS).
Causes
Common Genetic Causes
Common causes of cowden syndrome may include:
- PTEN gene mutations in a gene on chromosome 10
- Allelic heterogeneity is positive in cowden syndrome
Less Common Genetic Causes
Less common causes of cowden syndrome include:[1][2]
- KLLN (KILLIN) gene mutation
- Succinate dehydrogenase (SDH) gene mutation[3]
- SEC23B gene mutation
- EGFR gene mutation
Causes by Organ System
Cardiovascular | No underlying causes |
Chemical/Poisoning | No underlying causes |
Dental | No underlying causes |
Dermatologic | No underlying causes |
Drug Side Effect | No underlying causes |
Ear Nose Throat | No underlying causes |
Endocrine | No underlying causes |
Environmental | No underlying causes |
Gastroenterologic | No underlying causes |
Genetic | No underlying causes |
Hematologic | No underlying causes |
Iatrogenic | No underlying causes |
Infectious Disease | No underlying causes |
Musculoskeletal/Orthopedic | No underlying causes |
Neurologic | No underlying causes |
Nutritional/Metabolic | No underlying causes |
Obstetric/Gynecologic | No underlying causes |
Oncologic | No underlying causes |
Ophthalmologic | No underlying causes |
Overdose/Toxicity | No underlying causes |
Psychiatric | No underlying causes |
Pulmonary | No underlying causes |
Renal/Electrolyte | No underlying causes |
Rheumatology/Immunology/Allergy | No underlying causes |
Sexual | No underlying causes |
Trauma | No underlying causes |
Urologic | No underlying causes |
Miscellaneous | No underlying causes |
Causes in Alphabetical Order
List the causes of the disease in alphabetical order:
- Cause 1
- Cause 2
- Cause 3
- Cause 4
- Cause 5
- Cause 6
- Cause 7
- Cause 8
- Cause 9
- Cause 10
References
- ↑ Bennett KL, Mester J, Eng C (December 2010). "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome". JAMA. 304 (24): 2724–31. doi:10.1001/jama.2010.1877. PMID 21177507.
- ↑ Cho YJ, Liang P (April 2008). "Killin is a p53-regulated nuclear inhibitor of DNA synthesis". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5396–401. doi:10.1073/pnas.0705410105. PMC 2291080. PMID 18385383.
- ↑ Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C (August 2008). "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes". Am. J. Hum. Genet. 83 (2): 261–8. doi:10.1016/j.ajhg.2008.07.011. PMC 2495063. PMID 18678321.