About The Medical Condition Neurofibromatoses, Type I
Find the definition of the medical term Neurofibromatoses, Type I. Neurofibromatoses, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Neurofibromatoses, Type I
| Neurofibromatoses, Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Neurofibromatoses, Type I?
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
- Proteins, Encephalitogenic Basic ‐ A group of 7 proteins produced from a single gene by alternate…
- Dicarboxylate Carrier ‐ A family of ORGANIC ION TRANSPORTERS that specifically transport…
- Brainstem Neoplasms, Primary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Long-Term Care Insurance ‐ Health insurance to provide full or partial coverage for long-term…
- Unilateral Headache ‐ Pain in the cranial region that may occur as an isolated and…
- Postoperative Pains ‐ Pain during the period…
- Platelet Transforming Growth Factor ‐ A factor synthesized in a wide variety of tissues. It acts synergistically…
- Frontal Gait ‐ Gait abnormalities that are a manifestation of nervous system…
- Compression, Spinal Cord ‐ Acute and chronic conditions characterized by external mechanical…
- Disturbances, Menstruation ‐ Variations of menstruation which may be indicative…