Dictionary » N » Neurofibromatosis

Neurofibromatosis

neurofibromatosis

(Science: oncology) One of the most common disorders in genetics, neurofibromatosis encompasses at least two diseases, designated nF-1 and NF-2.

nF-1 or classic neurofibromatosis, is characterised by the familiar cafe- au-lait spots, axillary freckling, cutaneous and visceral neurofibromas (which sometimes undergo malignant transformation), gliomas, scoliosis, and Lisch nodules of the iris. NF-1 is associated with the the von recklinghausen Neurofibromatosis locus that encodes the NF-1 protein, a gTPase activating protein which interacts with the ras proteins. The gene is located on chromosome 17.

nF-2, also called acoustic or central neurofibromatosis, features neurofibromas restricted to the acoustic nerve (usually bilateral) and the central nervous system, skin lesions may or may not be present. The gene is located on chromosome 22.

There are no biochemical markers of the disorder, but the cloning of both the nF-1 and NF-2 genes makes dNA-based diagnosis possible in some families. Both genes appear to be tumour suppressor genes. Both conditions are autosomal dominant, but the variable penetrance and expressivity and [[high frequency of new mutations make genetic counseling difficult.

inheritance: autosomal dominant.


Please contribute to this project, if you have more information about this term feel free to edit this page



Results from our forum


Re: Neurofibromatosis type 1

I am no expert but perhaps blood vessels play a great deal with NEUROFIBROMATOSIS , ALSO Chemical synapses WHICH PLAYS A SPECIAL ROLE IN MUSCLES AND AND GLANDS which have a great share in hemostatis. I know you know more then me but I hope that helps a bit. ...

See entire post
by CXCR4
Sat Jul 11, 2009 9:06 pm
 
Forum: Genetics
Topic: Neurofibromatosis type 1
Replies: 1
Views: 2802

Neurofibromatosis type 1

Iv'e been searching various online medical journals and search engines but haven't come across one site that mentions NF-1's impact on human homeostasis. All I know is that the NF-1 gene produces neurofibromin which acts as a tumor suppressor, and mutations in the gene lead to the formation of neuro...

See entire post
by CarbonProduct
Sat Jul 11, 2009 5:40 pm
 
Forum: Genetics
Topic: Neurofibromatosis type 1
Replies: 1
Views: 2802

Re: Natural selection is proven wrong

... * Mucolipidoses * Mucopolysaccharide Disorders * Muscular Dystrophy * Neonatal Onset Multisystem Inflammatory Disease * Neural Tube Defects * Neurofibromatosis * Niemann-Pick Disease * Noonan Syndrome * Optic Atrophy * Osteogenesis Imperfecta * Peutz-Jeghers Syndrome * Phenylketonuria (PKU) ...

See entire post
by gamila
Thu Apr 23, 2009 4:16 am
 
Forum: Evolution
Topic: Natural selection is proven wrong
Replies: 247
Views: 620367

Re: Population Genetics Lab

If there were some selective advantage to having neurofibromatosis, then I could see the frequency of the allele increasing. But the opposite should happen if there is a disadvantage to carrying the allele. The actual prevalence of Type I NF is less ...

See entire post
by blcr11
Tue Feb 12, 2008 9:00 pm
 
Forum: Genetics
Topic: Population Genetics Lab
Replies: 3
Views: 6489

Population Genetics Lab

Imagine that you are a member of a committee assigned to evaluate a report on neurofibromatosis, a disorder inherited through a dominant allele. The report concludes that, because 75% of the offspring of parents who are heterozygous for neurofibromatosis will ...

See entire post
by n0vad3m0n
Tue Feb 12, 2008 7:26 pm
 
Forum: Genetics
Topic: Population Genetics Lab
Replies: 3
Views: 6489
View all matching forum results

This page was last modified 21:16, 3 October 2005. This page has been accessed 3,066 times. 
What links here | Related changes | Permanent link