HSANS (HEREDITARY SENSORY AUTONOMIC NEUROPATHY)
\ˈe͡ɪt͡ʃsˈanz hɪɹˈɛdɪtəɹi sˈɛnsəɹˌi ɔːtənˈɒmɪk njuːɹˈɒpəθɪ], \ˈeɪtʃsˈanz hɪɹˈɛdɪtəɹi sˈɛnsəɹˌi ɔːtənˈɒmɪk njuːɹˈɒpəθɪ], \ˈeɪ_tʃ_s_ˈa_n_z__ h_ɪ_ɹ_ˈɛ_d_ɪ_t_ə_ɹ_i s_ˈɛ_n_s_ə_ɹ_ˌi_ ɔː_t_ə_n_ˈɒ_m_ɪ_k n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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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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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.
Nearby Words
- hsan type iii
- hsan type iis
- hsan type is
- hsan type iv
- hsan type v
- HSANs (Hereditary Sensory Autonomic Neuropathy)
- hsdb 3453
- hsian
- hsien
- hsn type i
- hsn type ii