Hereditary sensory and autonomic neuropathy type IIB

Common Name(s)

Hereditary sensory and autonomic neuropathy type IIB

Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by {1:Ilgaz Aydinlar et al., 2014}). HSAN2A ({201300}) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400}).
 

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Following organizations serve the condition "Hereditary sensory and autonomic neuropathy type IIB" for support, advocacy or research.

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Scientific Literature

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