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Doctor insights on: Is There A Defective Gene In Neurofibromatosis

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Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Possible: NIH diagnostic criteria for NF1 with two or more of following features:1)6 or more café-au-lait macules over 5 mm in diameter prepubertal individuals over 15 mm in greatest diameter in postpubertal..2) 2or more neurofibromas or one plexiform neurofibroma.3)Freckling in armpit or groin areas4)Optic glioma (optic nerve tumor)5) > 2 Lisch nodules(iris of eye)6)typical bone lesions 7)1deg relative nf1 ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is there a defective gene in neurofibromatosis?

Is there a defective gene in neurofibromatosis?

Mostly genetic: Neurofibromatosis is a mostly inherited problem or mutation with degrees involvement from mild to severe. NF t autosomal dominant pattern of inheritance. People are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. Remaining cases result from new mutations in the NF1 gene, ...Read more

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How could you get neurofibromatosis without it being in your past family genetics?

How could you get neurofibromatosis without it being in your past family genetics?

Mutation: 50% of new NF1 cases are mutations and do not arise from inheritance. NF1 has autosomal dominant inheritance.Descendants of an affected individual have 50% risk of inheriting the altered NF1 gene. ...Read more

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Have you ever heard of the genetic disorder known as nerofibromatosis(nf) because I have nf2 and I am just looking to see if it us well known?

NF syndromes: Nf is one of the best known of the neuro-cutaneous syndromes (skin findings suggest nervous system problems) is has several distinct forms. Many are new mutations but these can be inherited in an autosomal dominant fashion. A second ncs is tuberous sclerosis. ...Read more

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What are the tests for neurofibromatosis?

Clinical diagnosis: The best test for neutofibromatosis is a physical examination by a practitioner familiar with the nih criteria. ...Read more

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Can you tell me about neurofibromatosis is a rare disease?

Can you tell me about neurofibromatosis is a rare disease?

Incidence of NF 1, : caused by a mutant Neurofibromin gene on chromosome 17, is 1:2500 - 1:3000. Each child of a person with NF 1 has a 50% chance of inheriting it. Medical & neurodevelopmental manifestations vary widely depending on size & location of nerve tumors on/under skin, in the brain & peripheral nervous system & in other organs. Learning disorders & ADHD often occur. See www.ctf.org for more information. ...Read more

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Is neurofibromatosis a rare disease?

Define rare: At 1/4000 births this is relatively common compared to many genetically influenced afflictions. About a 3rd are new mutations and the others are passed from an affected parent to half their offspring. ...Read more

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What to do if I have neurofibromatosis but I ain't show if it's type 1 of type 2 does anyone know how 2 find out?

What to do if I have neurofibromatosis but I ain't show if it's type 1 of type 2 does anyone know how 2 find out?

Physician for help: Neurofibromatosis,inherited,with varying involvement from mild to severe.Neurofibroma is benign tumor that originates from the nerve cells.Tumors usually arise from nerves in or under skin.Type1 usually appears in children with brown flat skin spots, freckling in armpits, and soft tumors under skin and sometimes bone deformity.Type 2 usually brain tumors,vestibular schwannomas,acoustic neuromas. ...Read more

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Is there any research is being done on neurofibromatosis (nf)?

Yes: Research teams located the exact position of the NF1 gene on chromosome 17.Product of NF1 gene is a large and complex protein called neurofibromin,which is primarily active in nervous cells as a regulator of cell division.Intensive efforts have let to the identification of the NF2 gene on chromosome 22. NF2 gene product is a tumor-suppressor protein called merlin.Ongoing research to discover genes ...Read more

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Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more