Neurofibromatosis type 1 epidemiology and demographics: Difference between revisions

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{{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]]  
{{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]]  
==Overview==
==Overview==
Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 4 in 100,000 births worldwide.<ref name="urlNeurofibromatosis - Orthopaedics and Trauma">{{cite web |url=https://www.orthopaedicsandtraumajournal.co.uk/article/S1877-1327(15)00017-2/fulltext |title=Neurofibromatosis - Orthopaedics and Trauma |format= |work= |accessdate=}}</ref>
'''[[Neurofibromatosis type 1]]''' is the most common single [[gene]] disorder in [[humans]], occurring in about 30 to 40 in 100,000 births worldwide.
 
The country with major [[prevalence]] of [[neurofibromatosis type 1]] reported is Israel, while the one with the least reported in Denmark.
 
Older [[Paternal age effect|paternal age]] may increase the chances for de novo [[Mutation|mutations]] in [[NF1|NF1 gene]].
 
There is no [[race]] or [[Gender-based medicine|gender]] predilection for [[neurofibromatosis type 1]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Incidence===
===Incidence===
*The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
 
*In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
*The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061" />
*The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref>


===Prevalence===
===Prevalence===
*The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
 
*In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
*The [[prevalence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals [[Worldwide Protein Data Bank|worldwide]].<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref>
*The prevalence of [disease/malignancy] is estimated to be [number] cases annually.
*[[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.<ref name="pmid28230061" /><ref name="pmid25354145" />
*The highest [[prevalence]] of [[neurofibromatosis type 1]] is in the [[population]] between 10 to 19 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />


===Case-fatality rate/Mortality rate===
===Case-fatality rate/Mortality rate===
*In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
 
*The case-fatality rate/mortality rate of [disease name] is approximately [number range].
*Neurofibromatosis type 1 decreases [[life expectancy]] in approximately 15-20 years from a normal person.<ref name="pmid11283797">{{cite journal |vauthors=Rasmussen SA, Yang Q, Friedman JM |title=Mortality in neurofibromatosis 1: an analysis using U.S. death certificates |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1110–8 |date=May 2001 |pmid=11283797 |pmc=1226092 |doi=10.1086/320121 |url=}}</ref><ref name="pmid214390342">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>
*The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.<ref name="pmid214390342" /><ref name="pmid214390343">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>
*The mean annual [[mortality rate]] associated with [[neurofibromatosis type 1]] is 0.092 per 100,000 people.<ref name="pmid214390343" />


===Age===
===Age===
*Patients of all age groups may develop [disease name].
 
*The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
*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.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />
*[Disease name] commonly affects individuals younger than/older than [number of years] years of age.  
*Since its a [[hereditary disorder]], patients of all [[age]] groups may develop [[neurofibromatosis type 1]] [[symptoms]].
*[Chronic disease name] is usually first diagnosed among [age group].
*[[Prevalence]] of [[Neurofibromatosis type I|neurofibromatosis]] has been found to be increased in individuals born from parents with [[Old age|advanced age]].<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref>
*[Acute disease name] commonly affects [age group].
*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.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland &#124; Journal of Medical Genetics |format= |work= |accessdate=}}</ref>


===Race===
===Race===
*There is no racial predilection to [disease name].
 
*[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
*There is no racial predilection to [[neurofibromatosis type 1]].<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?" />
*There seems to be a lower [[Incidence (epidemiology)|incidence]] of [[optic nerve glioma]] in African-American population.<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?">{{cite web |url=https://www.medscape.com/answers/1177266-103891/what-are-the-racial-predilections-for-neurofibromatosis-type-1-nf1 |title=What are the racial predilections for neurofibromatosis type 1 (NF1)? |format= |work= |accessdate=}}</ref>
 
===Gender===
===Gender===
*[Disease name] affects men and women equally.
 
*[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
*[[Neurofibromatosis type 1]] affects men and women equally.<ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf |title=www.orpha.net |format= |work= |accessdate=}}</ref>


===Region===
===Region===
*The majority of [disease name] cases are reported in [geographical region].


*[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
*The majority of [[neurofibromatosis type 1]] cases are reported in Israel.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369">{{cite journal |vauthors=Garty BZ, Laor A, Danon YL |title=Neurofibromatosis type 1 in Israel: survey of young adults |journal=J. Med. Genet. |volume=31 |issue=11 |pages=853–7 |date=November 1994 |pmid=7853369 |pmc=1016658 |doi=10.1136/jmg.31.11.853 |url=}}</ref>
*The country with less cases of [[neurofibromatosis type 1]] reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid14877597">{{cite journal |vauthors=BORBERG A |title=Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes |journal=Acta Psychiatr Neurol Scand Suppl |volume=71 |issue= |pages=1–239 |date=1951 |pmid=14877597 |doi= |url=}}</ref>


===Developed Countries===
===Developing Countries===


===Developing Countries===
*Many countries lack a proper electronic patient [[Medical Record|record]], so many times, [[researcher]] have to rely on [[death certificate]]<nowiki/>s and non-population-based [[Cohort study|cohorts]] to estimate risks of [[neurofibromatosis type 1]].<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>


<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 14:23, 1 September 2020

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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.

The country with major prevalence of neurofibromatosis type 1 reported is Israel, while the one with the least reported in Denmark.

Older paternal age may increase the chances for de novo mutations in NF1 gene.

There is no race or gender predilection for neurofibromatosis type 1.

Epidemiology and Demographics

Incidence

Prevalence

Case-fatality rate/Mortality rate

Age

Race

Gender

Region

Developing Countries


References

  1. ↑ 1.0 1.1 1.2 1.3 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.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
  3. ↑ Riccardi, Vincent M. (1987). "Neurofibromatosis". Neurologic Clinics. 5 (3): 337–349. doi:10.1016/S0733-8619(18)30909-5. ISSN 0733-8619.
  4. ↑ 4.0 4.1 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.
  5. ↑ 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.
  6. ↑ 6.0 6.1 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.
  7. ↑ 7.0 7.1 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 10.0 10.1 "What are the racial predilections for neurofibromatosis type 1 (NF1)?".
  11. ↑ "www.orpha.net" (PDF).
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.

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