Catalog

Hereditary sensory and autonomic neuropathy type IIA

No MMS code

Link to WHO Definition

Hereditary sensory and autonomic neuropathy type IIA – http://id.who.int/icd/entity/2050984064

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.