Neurofibromatosis type 1 epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
- Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.[1]
- The country with major prevalence of neurofibromatosis type 1 reported is Israel, while the one with least reported is Denmark.[2][3][4]
- Older paternal age may increase the chances for de novo mutations in NF1 gene.[5][6][7]
- There is no race or gender predilection for neurofibromatosis type 1.[8][9]
Epidemiology and Demographics
Incidence
- The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[10]
- The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.[2][11]
Prevalence
- The prevalence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[10][12]
- Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.[10][12]
- The highest prevalence of neurofibromatosis type 1 is in the population between 10 to 19 years old.[2]
Case-fatality rate/Mortality rate
- Neurofibromatosis type 1 decreases life expectancy in approximately 15-20 years from a normal person.[13][14]
- The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.[14][15]
- The mean annual mortality rate associated with neurofibromatosis type 1 is 0.092 per 100,000 people.[15]
Age
- The median age of diagnosis for neurofibromatosis type 1 is usually around 20 years old, although it can range from 3 months to 60 years old.[2]
- Since its a hereditary disorder, patients of all age groups may develop neurofibromatosis type 1 symptoms.
- Prevalence of neurofibromatosis has been found to be increased in individuals born from parents with advanced age.[2][5][6]
- The mean age of mothers who give to birth of a child with neurofibromatosis type 1 is 30 years , while the paternal age is 33.[2]
Race
- There is no racial predilection to neurofibromatosis type 1.[8]
- There seems to be a lower incidence of optic nerve glioma in African-American population.[8]
Gender
- Neurofibromatosis type 1 affects men and women equally.[9]
Region
- The majority of neurofibromatosis type 1 cases are reported in Israel.[2][3]
- The country with less cases of neurofibromatosis type 1 reported is Denmark.[2][4]
Developing Countries
- Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks of neurofibromatosis type 1.[10][16]
References
- ↑ "Neurofibromatosis - Orthopaedics and Trauma".
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
- ↑ 3.0 3.1 Garty BZ, Laor A, Danon YL (November 1994). "Neurofibromatosis type 1 in Israel: survey of young adults". J. Med. Genet. 31 (11): 853–7. doi:10.1136/jmg.31.11.853. PMC 1016658. PMID 7853369.
- ↑ 4.0 4.1 BORBERG A (1951). "Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes". Acta Psychiatr Neurol Scand Suppl. 71: 1–239. PMID 14877597.
- ↑ 5.0 5.1 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 6.0 6.1 Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
- ↑ Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M (March 2012). "The importance of advanced parental age in the origin of neurofibromatosis type 1". Am. J. Med. Genet. A. 158A (3): 519–23. doi:10.1002/ajmg.a.34413. PMID 22302476.
- ↑ 8.0 8.1 8.2 "What are the racial predilections for neurofibromatosis type 1 (NF1)?".
- ↑ 9.0 9.1 "www.orpha.net" (PDF).
- ↑ 10.0 10.1 10.2 10.3 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Riccardi, Vincent M. (1987). "Neurofibromatosis". Neurologic Clinics. 5 (3): 337–349. doi:10.1016/S0733-8619(18)30909-5. ISSN 0733-8619.
- ↑ 12.0 12.1 Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (March 2015). "Incidence and mortality of neurofibromatosis: a total population study in Finland". J. Invest. Dermatol. 135 (3): 904–906. doi:10.1038/jid.2014.465. PMID 25354145.
- ↑ Rasmussen SA, Yang Q, Friedman JM (May 2001). "Mortality in neurofibromatosis 1: an analysis using U.S. death certificates". Am. J. Hum. Genet. 68 (5): 1110–8. doi:10.1086/320121. PMC 1226092. PMID 11283797.
- ↑ 14.0 14.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ 15.0 15.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.