Neurofibromatosis type 1

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by xxwillelliottxx
Last updated 5 years ago

Discipline:
Science
Subject:
Genetics
Grade:
10

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Neurofibromatosis type 1

Neurofibromatosis type 1

Chromosome

Neurofibromatosis type one (or nfm 1) is a genetical disorder characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.

How do you get it?NFM 1 is an autosomal dominant disease. Unlike most autosomal dominant disorders, NFM 1 has to have 2 mutated genes to develope the tumors.

Beginning in early childhood children develope Cafe au lait spots, discolorations in the skin

Symptomes/ medical concerns1. Flat, light brown spots on the skin.2. Freckling in the armpits or groin area.3. Soft bumps on or under the skin3. Tiny bumps on the iris of your eye (Lisch nodules)4. Bone deformities.5. Learning disabilities. 6. Larger than average head size. 7. Short stature.This disease also can cause several types of cancers such as leukemia but this is not common.

Cures: none

Statistics:Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide.

Gene


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