TYPE 1 NEUROFIBROMATOSIS
\tˈa͡ɪp wˈɒn njˌuːɹəfˌɪbɹəmɐtˈə͡ʊsɪs], \tˈaɪp wˈɒn njˌuːɹəfˌɪbɹəmɐtˈəʊsɪs], \t_ˈaɪ_p w_ˈɒ_n n_j_ˌuː_ɹ_ə_f_ˌɪ_b_ɹ_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.