Hereditary sensory and autonomic neuropathy type IIA (Q100555): Difference between revisions

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Latest revision as of 17:16, 16 August 2026

HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.

Language	Label	Description	Also known as
default for all languages	ID_2050984064
English	Hereditary sensory and autonomic neuropathy type IIA	HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.