LINDAUS DISEASE
\lˈɪnda͡ʊs dɪzˈiːz], \lˈɪndaʊs dɪzˈiːz], \l_ˈɪ_n_d_aʊ_s d_ɪ_z_ˈiː_z]\
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An autosomal dominant disorder associated with various neoplasms including central nervous system (most often cerebellar) and retinal HEMANGIOBLASTOMA, endolymphatic sac tumors, renal cell carcinoma (see CARCINOMA, RENAL CELL), renal and pancreatic cysts, HEMANGIOMA of the spinal cord, and PHEOCHROMOCYTOMA. The most common presenting manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, INTRACRANIAL HYPERTENSION, and other signs of neurologic dysfunction. (From Neurochirurgie 1998 Nov;44 (4):258-66)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.