CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
\kənd͡ʒˈɛnɪtə͡l ɪnsˌɛnsɪtˈɪvɪti tə pˈe͡ɪn wɪð ˌanhɪdɹˈə͡ʊsɪs], \kəndʒˈɛnɪtəl ɪnsˌɛnsɪtˈɪvɪti tə pˈeɪn wɪð ˌanhɪdɹˈəʊsɪs], \k_ə_n_dʒ_ˈɛ_n_ɪ_t_əl ɪ_n_s_ˌɛ_n_s_ɪ_t_ˈɪ_v_ɪ_t_i t_ə p_ˈeɪ_n w_ɪ_ð ˌa_n_h_ɪ_d_ɹ_ˈəʊ_s_ɪ_s]\
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A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
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Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
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