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Neurofibromatosis, type 1
Neurofibromatosis 1

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cafe-au-lait spots integumentary 91 % 9128932 2011-10-19
Intertriginous freckling integumentary 86 % 9128932 2011-10-12
Lisch nodules nervous 57 % 9128932 2011-10-12
Neurofibromas integumentary 54 % 9128932 2011-10-12
Macrocephaly nervous 39 % 11337320 2011-10-12
Scoliosis skeletal 26 % 9128932 2011-10-12
Dysplastic sphenoid wing skeletal 11 % 9128932 2011-10-12
Seizures nervous 6 % 9128932 2011-10-12

List of references:

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
J M Friedman, P H Birch,

Type 1 Neurofibromatosis, NF1, is a common genetic disorder with variable clinical manifestations. Although NF1 often is only of cosmetic concern, serious and even lethal complications may occur. It is not possible to predict which symptoms will develop in any affected individual. The NNFF International Database is a multicentre collaborative system for collecting information about this condition. At the time of this analysis, complete clinical information was available on 1,479 probands and 249 of their affected relatives with NF1. On average, the age at diagnosis of NF1 was 8 years younger in the probands than in the affected relatives (P<.01). Many of the manifestations of NF1 were more frequent in the probands than in their affected relatives. The age-specific prevalence of most manifestations of NF1 increases with age. Despite biases inherent in a convenience sample from specialist clinics, the frequencies of many of the serious manifestations of NF1 are similar to those of two smaller population-based studies. The frequencies in this study are likely representative of patients seen at specialized clinics.

American journal of medical genetics - May 1997

Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.
R G Steen, J S Taylor, J W Langston, J O Glass, V R Brewer, W E Reddick, R Mages, E K Pivnick,

Mutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain development and because 30% to 50% of children with NF-1 display macrocephaly in the absence of hydrocephalus, we sought to determine the relationship between macrocephaly and other brain abnormalities in young subjects with NF-1. These subjects were free of brain tumor, epilepsy, or other obvious neurologic problems.

AJNR. American journal of neuroradiology - May 2001

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