Doctor insights on:
Is There A Defective Gene In 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 moreSee 1 more doctor answer
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
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 moreSee 2 more doctor answers
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 moreSee 2 more doctor answers
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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