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
- Smooth Muscle Myosins ‐ Myosin type II isoforms found in…
- Barium Compounds ‐ Inorganic compounds that contain barium as an integral part of…
- Arabs ‐ Members of a Semitic people inhabiting the Arabian peninsula…
- Methyl Aspartylphenylalanine ‐ Flavoring agent sweeter than sugar, metabolized as phenylalanine…
- Comprehensive Dental Care ‐ Providing for the full range of dental health services for diagnosis,…
- Dicrocoelium dendriticum ‐ A genus of trematode liver flukes of the family Dicrocoeliidae…
- Hydrolases, Xylan ‐ A group of enzymes that catalyze the hydrolysis of alpha- or…
- Embryonic Antigen-1, Stage-Specific ‐ Carbohydrate antigen which is accumulated in various human cancer…
- Gene, sor ‐ DNA sequences that form the coding region for the vif (virion…
- Acetylcholine Agents ‐ Any drug used for its actions on cholinergic systems. Included…