About The Medical Condition Type I, Neurofibromatosis
Find the definition of the medical term Type I, Neurofibromatosis. Type I, Neurofibromatosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type I, Neurofibromatosis
| Type I, Neurofibromatosis Medical Condition |
|---|
What's The Definition Of The Medical Condition Type I, Neurofibromatosis?
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic neural crest. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Avenavirus ‐ A family of RNA plant viruses infecting dicotyledons. Transmission…
- Corn Oils ‐ Oil from corn or…
- Phase, Cell Division ‐ The stages which a cell undergoes when dividing. There are four…
- Methylamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Research Subject Recruitments ‐ Criteria and standards used for the determination of the appropriateness…
- Plastid ‐ Self-replicating cytoplasmic organelles of plant and algal cells…
- Nephritides, Tubulointerstitial ‐ Diffuse or local inflammation and edema of the interstitial tissue…
- NADP+ Dependent Glutamate Dehydrogenase ‐ An enzyme that catalyzes the conversion of L-glutamate, H2O,…
- Arteries, Bronchial ‐ Left bronchial arteries arise from the thoracic aorta, the right…
- Porphyrias, Congenital Erythropoietic ‐ Autosomal recessive porphyria characterized by splenomegaly,…